ClinVar Miner

List of variants reported as likely benign for Hereditary sensory and autonomic neuropathy type 6; Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 947
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HGVS dbSNP gnomAD frequency
NM_001374736.1(DST):c.15584G>A (p.Cys5195Tyr) rs57472891 0.01957
NM_001374736.1(DST):c.17923-10A>G rs116504133 0.01889
NM_001374736.1(DST):c.3495-17T>C rs74865335 0.01174
NM_001723.7(DST):c.5780A>G (p.His1927Arg) rs12209266 0.00441
NM_001723.7(DST):c.3336G>C (p.Glu1112Asp) rs34767818 0.00349
NM_001374736.1(DST):c.12839A>G (p.Lys4280Arg) rs186813964 0.00285
NM_001374736.1(DST):c.14461A>C (p.Asn4821His) rs139089184 0.00260
NM_001723.7(DST):c.5153A>C (p.Lys1718Thr) rs45487998 0.00245
NM_001723.7(DST):c.6373G>A (p.Val2125Ile) rs75275319 0.00217
NM_001723.7(DST):c.4961C>T (p.Ala1654Val) rs150229184 0.00182
NM_001723.7(DST):c.4060C>A (p.Gln1354Lys) rs35599167 0.00167
NM_001374736.1(DST):c.2705C>G (p.Ser902Cys) rs138553142 0.00148
NM_001374736.1(DST):c.14440G>A (p.Asp4814Asn) rs200442117 0.00147
NM_001374736.1(DST):c.21538A>G (p.Met7180Val) rs200006386 0.00141
NM_001723.7(DST):c.7135G>A (p.Ala2379Thr) rs140192373 0.00140
NM_001723.7(DST):c.4049C>T (p.Thr1350Met) rs45472691 0.00137
NM_001374736.1(DST):c.4997A>T (p.Asn1666Ile) rs183804748 0.00118
NM_001374736.1(DST):c.18433C>T (p.Arg6145Trp) rs193252082 0.00107
NM_001723.7(DST):c.6401C>T (p.Thr2134Met) rs115983672 0.00107
NM_001374736.1(DST):c.16495A>T (p.Ser5499Cys) rs180765536 0.00102
NM_001374736.1(DST):c.20438A>G (p.Asn6813Ser) rs199628430 0.00095
NM_001374736.1(DST):c.16967G>A (p.Arg5656Gln) rs116774070 0.00088
NM_001723.7(DST):c.84T>C (p.Asn28=) rs137865390 0.00086
NM_001374736.1(DST):c.15004A>C (p.Lys5002Gln) rs201900709 0.00079
NM_001723.7(DST):c.5921A>G (p.Asn1974Ser) rs147572287 0.00076
NM_001374736.1(DST):c.23094G>A (p.Lys7698=) rs377080714 0.00066
NM_001374736.1(DST):c.11542-8C>T rs370887046 0.00060
NM_001374736.1(DST):c.2157A>G (p.Ser719=) rs145351947 0.00049
NM_001723.7(DST):c.6868A>G (p.Arg2290Gly) rs112473525 0.00047
NM_001374736.1(DST):c.16065A>G (p.Gln5355=) rs200707935 0.00045
NM_001374736.1(DST):c.17086T>C (p.Leu5696=) rs201084174 0.00043
NM_001723.7(DST):c.5604A>G (p.Gln1868=) rs138838195 0.00042
NM_001374736.1(DST):c.16047C>G (p.Thr5349=) rs370841140 0.00041
NM_001374736.1(DST):c.4638+7A>T rs185349093 0.00041
NM_001723.7(DST):c.4772A>C (p.Gln1591Pro) rs138185589 0.00041
NM_001374736.1(DST):c.3051G>A (p.Ala1017=) rs143352267 0.00040
NM_001374736.1(DST):c.2125A>G (p.Met709Val) rs142650835 0.00039
NM_001723.7(DST):c.5352A>G (p.Gln1784=) rs116469100 0.00039
NM_001374736.1(DST):c.4929+18G>A rs374777175 0.00037
NM_001374736.1(DST):c.14274T>C (p.Asp4758=) rs184283341 0.00036
NM_001374736.1(DST):c.3622A>C (p.Ile1208Leu) rs200913640 0.00036
NM_001723.7(DST):c.3853G>A (p.Glu1285Lys) rs138949781 0.00036
NM_001374736.1(DST):c.12159T>G (p.Thr4053=) rs369432519 0.00035
NM_001374736.1(DST):c.3282C>T (p.Asp1094=) rs145723100 0.00034
NM_001374736.1(DST):c.5148-8T>C rs376856354 0.00034
NM_001723.7(DST):c.5091C>T (p.Arg1697=) rs144113067 0.00034
NM_001374736.1(DST):c.4473C>T (p.Asn1491=) rs143239593 0.00033
NM_001723.7(DST):c.7578G>A (p.Gly2526=) rs143623628 0.00032
NM_001374736.1(DST):c.18358-13T>C rs546159578 0.00031
NM_001374736.1(DST):c.2589A>G (p.Glu863=) rs146171809 0.00031
NM_001374736.1(DST):c.18849C>G (p.Pro6283=) rs370495323 0.00029
NM_001374736.1(DST):c.4650C>T (p.Ser1550=) rs138607224 0.00029
NM_001723.7(DST):c.5304T>C (p.Thr1768=) rs375931704 0.00029
NM_001723.7(DST):c.6831C>T (p.Ala2277=) rs34628660 0.00029
NM_001374736.1(DST):c.3964-11C>T rs371499560 0.00028
NM_001374736.1(DST):c.2630C>T (p.Thr877Ile) rs141523606 0.00026
NM_001723.7(DST):c.3485C>T (p.Pro1162Leu) rs375521654 0.00026
NM_001374736.1(DST):c.23055C>T (p.Pro7685=) rs201991278 0.00025
NM_001374736.1(DST):c.20094+11G>A rs373711358 0.00024
NM_001374736.1(DST):c.4330G>A (p.Glu1444Lys) rs143924906 0.00024
NM_001374736.1(DST):c.18699C>T (p.Ala6233=) rs373689917 0.00023
NM_001374736.1(DST):c.13721+13T>G rs758871907 0.00022
NM_001374736.1(DST):c.14441-7C>T rs41271866 0.00022
NM_001374736.1(DST):c.23406G>A (p.Thr7802=) rs199881276 0.00022
NM_001374736.1(DST):c.14688G>A (p.Leu4896=) rs370207289 0.00021
NM_001374736.1(DST):c.18754G>A (p.Asp6252Asn) rs776644026 0.00021
NM_001723.7(DST):c.4443G>A (p.Gly1481=) rs144396052 0.00021
NM_001723.7(DST):c.5808A>G (p.Glu1936=) rs138015691 0.00019
NM_001374736.1(DST):c.19465-19G>T rs763241467 0.00018
NM_001374736.1(DST):c.22458C>T (p.Ala7486=) rs554828969 0.00018
NM_001723.7(DST):c.5145G>A (p.Arg1715=) rs147759423 0.00017
NM_001723.7(DST):c.6120C>T (p.Pro2040=) rs370483824 0.00017
NM_001374736.1(DST):c.12834G>A (p.Ala4278=) rs200168835 0.00016
NM_001374736.1(DST):c.20148G>A (p.Thr6716=) rs552952660 0.00016
NM_001374736.1(DST):c.13191G>C (p.Val4397=) rs371033457 0.00015
NM_001374736.1(DST):c.13361T>C (p.Leu4454Ser) rs201758531 0.00014
NM_001374736.1(DST):c.15540A>G (p.Pro5180=) rs368976790 0.00014
NM_001374736.1(DST):c.2253A>T (p.Ser751=) rs369018665 0.00014
NM_001723.7(DST):c.7557G>A (p.Gln2519=) rs368876285 0.00014
NM_001723.7(DST):c.7710T>C (p.Val2570=) rs149243443 0.00014
NM_001374736.1(DST):c.11736T>C (p.Ala3912=) rs775702098 0.00013
NM_001374736.1(DST):c.12904-14G>A rs374055379 0.00013
NM_001374736.1(DST):c.4930-11A>G rs193053829 0.00013
NM_001374736.1(DST):c.12907T>C (p.Leu4303=) rs187952313 0.00012
NM_001374736.1(DST):c.14440+10G>A rs375501871 0.00012
NM_001374736.1(DST):c.3853A>G (p.Asn1285Asp) rs201419873 0.00012
NM_001374736.1(DST):c.14052A>G (p.Glu4684=) rs7739398 0.00011
NM_001374736.1(DST):c.18102C>T (p.Ile6034=) rs201951832 0.00011
NM_001374736.1(DST):c.19239+10A>T rs767526367 0.00011
NM_001374736.1(DST):c.19240-15A>G rs375493704 0.00011
NM_001374736.1(DST):c.2757G>A (p.Ala919=) rs376863860 0.00011
NM_001374736.1(DST):c.3375G>A (p.Ala1125=) rs149789667 0.00011
NM_001723.7(DST):c.5972A>G (p.Asn1991Ser) rs201140563 0.00011
NM_001723.7(DST):c.6066G>A (p.Gln2022=) rs201266275 0.00011
NM_001374736.1(DST):c.20394+19A>G rs371438561 0.00010
NM_001374736.1(DST):c.21348C>T (p.Thr7116=) rs74722945 0.00010
NM_001374736.1(DST):c.12549C>T (p.Asp4183=) rs375624981 0.00009
NM_001374736.1(DST):c.16377T>C (p.Leu5459=) rs369447134 0.00009
NM_001374736.1(DST):c.18780+14C>G rs753756897 0.00009
NM_001374736.1(DST):c.22195C>T (p.Arg7399Cys) rs373258036 0.00009
NM_001374736.1(DST):c.23035G>T (p.Ala7679Ser) rs201138592 0.00009
NM_001374736.1(DST):c.23079A>G (p.Pro7693=) rs370496665 0.00009
NM_001723.7(DST):c.4341A>G (p.Gln1447=) rs780419000 0.00009
NM_001723.7(DST):c.7215G>A (p.Glu2405=) rs377752084 0.00009
NM_001374736.1(DST):c.13527T>C (p.Asp4509=) rs543691284 0.00008
NM_001374736.1(DST):c.14069-12T>C rs781252100 0.00008
NM_001374736.1(DST):c.14310+19C>T rs375907252 0.00008
NM_001374736.1(DST):c.14495A>G (p.Glu4832Gly) rs201437391 0.00008
NM_001374736.1(DST):c.14709T>A (p.Ile4903=) rs199986238 0.00008
NM_001374736.1(DST):c.20412T>C (p.Ala6804=) rs146563577 0.00008
NM_001723.7(DST):c.5447A>C (p.Gln1816Pro) rs368746654 0.00008
NM_001374736.1(DST):c.23433A>G (p.Lys7811=) rs769595354 0.00007
NM_001374736.1(DST):c.11949G>A (p.Leu3983=) rs375814327 0.00006
NM_001374736.1(DST):c.13371G>T (p.Arg4457=) rs768383458 0.00006
NM_001374736.1(DST):c.14311-20T>G rs201436347 0.00006
NM_001374736.1(DST):c.14641-4T>G rs757638125 0.00006
NM_001374736.1(DST):c.15327T>C (p.Ala5109=) rs779500842 0.00006
NM_001374736.1(DST):c.15426A>G (p.Thr5142=) rs767246314 0.00006
NM_001374736.1(DST):c.15765C>T (p.Asp5255=) rs368002729 0.00006
NM_001374736.1(DST):c.16572A>G (p.Glu5524=) rs371044158 0.00006
NM_001374736.1(DST):c.17340G>A (p.Lys5780=) rs200304225 0.00006
NM_001374736.1(DST):c.17505C>T (p.Asn5835=) rs376888650 0.00006
NM_001374736.1(DST):c.1794A>G (p.Gln598=) rs370678197 0.00006
NM_001374736.1(DST):c.18780+20A>G rs778166213 0.00006
NM_001374736.1(DST):c.18825C>T (p.Ile6275=) rs754958682 0.00006
NM_001374736.1(DST):c.19464+16T>C rs754337299 0.00006
NM_001374736.1(DST):c.20394+14T>C rs374715767 0.00006
NM_001374736.1(DST):c.21237C>T (p.Thr7079=) rs749307333 0.00006
NM_001374736.1(DST):c.21915G>A (p.Thr7305=) rs906093081 0.00006
NM_001374736.1(DST):c.23385G>A (p.Ala7795=) rs371464814 0.00006
NM_001374736.1(DST):c.4812A>G (p.Ala1604=) rs767712487 0.00006
NM_001723.7(DST):c.3956C>A (p.Ala1319Glu) rs142302277 0.00006
NM_001723.7(DST):c.5052G>A (p.Leu1684=) rs757615570 0.00006
NM_001723.7(DST):c.6606C>T (p.Pro2202=) rs771032986 0.00006
NM_001374736.1(DST):c.13028-17T>G rs764106619 0.00005
NM_001374736.1(DST):c.14094G>T (p.Met4698Ile) rs184352375 0.00005
NM_001374736.1(DST):c.17681-19C>T rs777006137 0.00005
NM_001374736.1(DST):c.19317A>G (p.Ala6439=) rs183257700 0.00005
NM_001374736.1(DST):c.20095-12C>T rs776779270 0.00005
NM_001374736.1(DST):c.20937A>G (p.Gly6979=) rs200383542 0.00005
NM_001374736.1(DST):c.22857C>G (p.Ser7619=) rs370820734 0.00005
NM_001374736.1(DST):c.23076G>A (p.Thr7692=) rs375362610 0.00005
NM_001374736.1(DST):c.2860-4G>C rs370134977 0.00005
NM_001374736.1(DST):c.2964+16G>A rs756741680 0.00005
NM_001374736.1(DST):c.5100G>A (p.Ser1700=) rs377380086 0.00005
NM_001723.7(DST):c.3591C>T (p.Arg1197=) rs368674616 0.00005
NM_001723.7(DST):c.4290G>A (p.Ala1430=) rs533016750 0.00005
NM_001723.7(DST):c.5058G>A (p.Ala1686=) rs143594621 0.00005
NM_001723.7(DST):c.5346T>A (p.Leu1782=) rs769786699 0.00005
NM_001374736.1(DST):c.12903+15A>G rs747670088 0.00004
NM_001374736.1(DST):c.14661C>T (p.Ala4887=) rs752954362 0.00004
NM_001374736.1(DST):c.16533C>T (p.Ala5511=) rs368550568 0.00004
NM_001374736.1(DST):c.16609-7A>C rs370676277 0.00004
NM_001374736.1(DST):c.17235A>G (p.Ala5745=) rs757658809 0.00004
NM_001374736.1(DST):c.17784G>A (p.Ala5928=) rs760938132 0.00004
NM_001374736.1(DST):c.18219C>T (p.Asp6073=) rs906435037 0.00004
NM_001374736.1(DST):c.18324C>T (p.Thr6108=) rs367584614 0.00004
NM_001374736.1(DST):c.18432A>G (p.Glu6144=) rs369202101 0.00004
NM_001374736.1(DST):c.20049A>G (p.Glu6683=) rs746982969 0.00004
NM_001374736.1(DST):c.20895C>T (p.Leu6965=) rs765299229 0.00004
NM_001374736.1(DST):c.2109A>G (p.Thr703=) rs150266492 0.00004
NM_001374736.1(DST):c.21885C>T (p.Thr7295=) rs764924172 0.00004
NM_001374736.1(DST):c.2247C>T (p.Gly749=) rs1421257989 0.00004
NM_001374736.1(DST):c.2451A>G (p.Lys817=) rs746290195 0.00004
NM_001374736.1(DST):c.3097A>C (p.Arg1033=) rs138548125 0.00004
NM_001374736.1(DST):c.3126G>A (p.Lys1042=) rs76795414 0.00004
NM_001374736.1(DST):c.3699T>C (p.Asp1233=) rs751682343 0.00004
NM_001374736.1(DST):c.3806-20A>G rs748934318 0.00004
NM_001374736.1(DST):c.3806-7T>G rs747520369 0.00004
NM_001723.7(DST):c.108T>C (p.Cys36=) rs766639572 0.00004
NM_001723.7(DST):c.3381G>A (p.Lys1127=) rs970861989 0.00004
NM_001723.7(DST):c.3852G>A (p.Glu1284=) rs772290241 0.00004
NM_001723.7(DST):c.4479A>T (p.Ala1493=) rs781257215 0.00004
NM_001723.7(DST):c.4962G>A (p.Ala1654=) rs370912424 0.00004
NM_001374736.1(DST):c.12633A>G (p.Arg4211=) rs759964682 0.00003
NM_001374736.1(DST):c.13482A>G (p.Glu4494=) rs755369237 0.00003
NM_001374736.1(DST):c.14440+9C>T rs753031362 0.00003
NM_001374736.1(DST):c.15465A>G (p.Lys5155=) rs764050980 0.00003
NM_001374736.1(DST):c.16233G>C (p.Val5411=) rs201830030 0.00003
NM_001374736.1(DST):c.16653A>C (p.Gln5551His) rs200345187 0.00003
NM_001374736.1(DST):c.17109-12G>A rs760581388 0.00003
NM_001374736.1(DST):c.18348A>G (p.Gln6116=) rs371040493 0.00003
NM_001374736.1(DST):c.18589T>C (p.Leu6197=) rs770777659 0.00003
NM_001374736.1(DST):c.18750A>G (p.Ala6250=) rs748163345 0.00003
NM_001374736.1(DST):c.18771A>G (p.Gln6257=) rs779784752 0.00003
NM_001374736.1(DST):c.19782A>G (p.Gln6594=) rs373569297 0.00003
NM_001374736.1(DST):c.20283C>G (p.Gly6761=) rs371477306 0.00003
NM_001374736.1(DST):c.2046C>T (p.Asp682=) rs148980773 0.00003
NM_001374736.1(DST):c.21178T>C (p.Leu7060=) rs761472644 0.00003
NM_001374736.1(DST):c.21420G>A (p.Ser7140=) rs375659355 0.00003
NM_001374736.1(DST):c.22350C>T (p.Ser7450=) rs746597844 0.00003
NM_001374736.1(DST):c.22455T>C (p.Asp7485=) rs766194072 0.00003
NM_001374736.1(DST):c.3192G>A (p.Glu1064=) rs746292165 0.00003
NM_001374736.1(DST):c.3306G>A (p.Pro1102=) rs766166298 0.00003
NM_001374736.1(DST):c.3564A>G (p.Val1188=) rs754240740 0.00003
NM_001374736.1(DST):c.3609C>T (p.Ser1203=) rs747997266 0.00003
NM_001374736.1(DST):c.4020G>A (p.Lys1340=) rs137982571 0.00003
NM_001374736.1(DST):c.4380G>A (p.Thr1460=) rs200169945 0.00003
NM_001374736.1(DST):c.4776A>G (p.Lys1592=) rs746892771 0.00003
NM_001374736.1(DST):c.5040T>A (p.Pro1680=) rs1470578488 0.00003
NM_001374736.1(DST):c.5058+9A>G rs761622114 0.00003
NM_001723.7(DST):c.3372G>A (p.Gln1124=) rs201297384 0.00003
NM_001723.7(DST):c.4191G>A (p.Thr1397=) rs374733987 0.00003
NM_001723.7(DST):c.5589C>A (p.Leu1863=) rs772956942 0.00003
NM_001723.7(DST):c.6234T>C (p.His2078=) rs766566492 0.00003
NM_001723.7(DST):c.6351C>G (p.Leu2117=) rs377110563 0.00003
NM_001723.7(DST):c.7629T>C (p.Asn2543=) rs202229586 0.00003
NM_001374736.1(DST):c.11616C>T (p.Asn3872=) rs781115542 0.00002
NM_001374736.1(DST):c.11679T>C (p.Tyr3893=) rs375258425 0.00002
NM_001374736.1(DST):c.11980T>C (p.Leu3994=) rs372499813 0.00002
NM_001374736.1(DST):c.12363G>A (p.Glu4121=) rs766393212 0.00002
NM_001374736.1(DST):c.12471T>G (p.Leu4157=) rs191989879 0.00002
NM_001374736.1(DST):c.14542T>C (p.Leu4848=) rs754131087 0.00002
NM_001374736.1(DST):c.14934G>A (p.Thr4978=) rs200938033 0.00002
NM_001374736.1(DST):c.15564C>T (p.Asn5188=) rs780706310 0.00002
NM_001374736.1(DST):c.15825T>C (p.Phe5275=) rs770973190 0.00002
NM_001374736.1(DST):c.16194C>T (p.Phe5398=) rs763296327 0.00002
NM_001374736.1(DST):c.16365C>T (p.Thr5455=) rs371951779 0.00002
NM_001374736.1(DST):c.16609-14T>C rs755120641 0.00002
NM_001374736.1(DST):c.17082G>A (p.Glu5694=) rs1212554692 0.00002
NM_001374736.1(DST):c.17568G>A (p.Gly5856=) rs755606940 0.00002
NM_001374736.1(DST):c.18129+12T>C rs757694150 0.00002
NM_001374736.1(DST):c.18358-20T>G rs752413558 0.00002
NM_001374736.1(DST):c.18525C>T (p.Pro6175=) rs754728952 0.00002
NM_001374736.1(DST):c.18543T>C (p.Tyr6181=) rs369810130 0.00002
NM_001374736.1(DST):c.18597T>C (p.Ala6199=) rs376171977 0.00002
NM_001374736.1(DST):c.19332T>C (p.Asp6444=) rs371657329 0.00002
NM_001374736.1(DST):c.19440C>T (p.Ala6480=) rs765615341 0.00002
NM_001374736.1(DST):c.19761A>G (p.Leu6587=) rs758488384 0.00002
NM_001374736.1(DST):c.19776G>A (p.Gln6592=) rs1358754807 0.00002
NM_001374736.1(DST):c.20106C>T (p.Phe6702=) rs369165013 0.00002
NM_001374736.1(DST):c.20175G>A (p.Pro6725=) rs761835229 0.00002
NM_001374736.1(DST):c.21591C>T (p.Gly7197=) rs760689511 0.00002
NM_001374736.1(DST):c.21618C>T (p.Pro7206=) rs748595263 0.00002
NM_001374736.1(DST):c.22134T>C (p.Asn7378=) rs1234622799 0.00002
NM_001374736.1(DST):c.22377T>C (p.Asp7459=) rs757599796 0.00002
NM_001374736.1(DST):c.23025T>C (p.Pro7675=) rs1173189755 0.00002
NM_001374736.1(DST):c.23334C>G (p.Val7778=) rs749163618 0.00002
NM_001374736.1(DST):c.3240A>G (p.Gly1080=) rs749766933 0.00002
NM_001374736.1(DST):c.3963+10A>G rs186911323 0.00002
NM_001374736.1(DST):c.4050C>T (p.Ala1350=) rs768749488 0.00002
NM_001374736.1(DST):c.4680C>T (p.Asp1560=) rs746485081 0.00002
NM_001374736.1(DST):c.4740A>G (p.Thr1580=) rs369750889 0.00002
NM_001374736.1(DST):c.4851A>G (p.Arg1617=) rs762100685 0.00002
NM_001723.7(DST):c.18T>C (p.Tyr6=) rs1392922017 0.00002
NM_001723.7(DST):c.3534T>C (p.Asn1178=) rs140427392 0.00002
NM_001723.7(DST):c.3672C>T (p.Ala1224=) rs763921292 0.00002
NM_001723.7(DST):c.3690C>T (p.Ala1230=) rs374143007 0.00002
NM_001723.7(DST):c.3705C>G (p.Leu1235=) rs1293756940 0.00002
NM_001723.7(DST):c.4020C>T (p.Ile1340=) rs768554069 0.00002
NM_001723.7(DST):c.6384T>G (p.Thr2128=) rs941586034 0.00002
NM_001723.7(DST):c.6564A>G (p.Thr2188=) rs772905590 0.00002
NM_001723.7(DST):c.6673T>C (p.Leu2225=) rs753017821 0.00002
NM_001723.7(DST):c.6731T>A (p.Ile2244Asn) rs780009389 0.00002
NM_001723.7(DST):c.7158G>A (p.Gly2386=) rs986659037 0.00002
NM_001723.7(DST):c.7347A>C (p.Ala2449=) rs770185060 0.00002
NM_001723.7(DST):c.7350G>T (p.Gly2450=) rs768775070 0.00002
NM_001374736.1(DST):c.11658C>A (p.Gly3886=) rs373528826 0.00001
NM_001374736.1(DST):c.11694+14T>A rs1248446969 0.00001
NM_001374736.1(DST):c.12132T>G (p.Thr4044=) rs563848118 0.00001
NM_001374736.1(DST):c.12201A>G (p.Gln4067=) rs767619402 0.00001
NM_001374736.1(DST):c.12420T>C (p.Asp4140=) rs900075798 0.00001
NM_001374736.1(DST):c.12546A>G (p.Glu4182=) rs751368596 0.00001
NM_001374736.1(DST):c.12727-14C>T rs373606530 0.00001
NM_001374736.1(DST):c.12843C>T (p.His4281=) rs777284565 0.00001
NM_001374736.1(DST):c.12861G>A (p.Ala4287=) rs750764970 0.00001
NM_001374736.1(DST):c.12960G>A (p.Thr4320=) rs763102936 0.00001
NM_001374736.1(DST):c.12987A>T (p.Gly4329=) rs1178377873 0.00001
NM_001374736.1(DST):c.13027+9T>C rs572634843 0.00001
NM_001374736.1(DST):c.13110A>C (p.Ser4370=) rs766064417 0.00001
NM_001374736.1(DST):c.13237-14T>C rs986801364 0.00001
NM_001374736.1(DST):c.13554+18C>T rs1205308085 0.00001
NM_001374736.1(DST):c.13581C>T (p.His4527=) rs1483796743 0.00001
NM_001374736.1(DST):c.13722-5T>C rs1185373753 0.00001
NM_001374736.1(DST):c.13929C>T (p.Asn4643=) rs192005493 0.00001
NM_001374736.1(DST):c.13947A>G (p.Leu4649=) rs781204953 0.00001
NM_001374736.1(DST):c.14130C>T (p.Leu4710=) rs757068475 0.00001
NM_001374736.1(DST):c.14193A>G (p.Glu4731=) rs371597519 0.00001
NM_001374736.1(DST):c.14440+15T>G rs1313367528 0.00001
NM_001374736.1(DST):c.14532A>G (p.Val4844=) rs1185994786 0.00001
NM_001374736.1(DST):c.14592C>T (p.Pro4864=) rs777542945 0.00001
NM_001374736.1(DST):c.14686C>T (p.Leu4896=) rs2097403549 0.00001
NM_001374736.1(DST):c.14952C>T (p.Asn4984=) rs147317534 0.00001
NM_001374736.1(DST):c.15162G>A (p.Ser5054=) rs370399416 0.00001
NM_001374736.1(DST):c.15376T>C (p.Leu5126=) rs751708590 0.00001
NM_001374736.1(DST):c.15696G>A (p.Leu5232=) rs1408470142 0.00001
NM_001374736.1(DST):c.15897T>C (p.His5299=) rs752507058 0.00001
NM_001374736.1(DST):c.16008A>C (p.Ala5336=) rs781475363 0.00001
NM_001374736.1(DST):c.16179A>G (p.Glu5393=) rs1324080812 0.00001
NM_001374736.1(DST):c.16236G>A (p.Gly5412=) rs772061660 0.00001
NM_001374736.1(DST):c.16392G>A (p.Arg5464=) rs770605509 0.00001
NM_001374736.1(DST):c.16656T>C (p.Asp5552=) rs912722502 0.00001
NM_001374736.1(DST):c.16770+11C>T rs1031800343 0.00001
NM_001374736.1(DST):c.16771-11G>A rs201322108 0.00001
NM_001374736.1(DST):c.16914G>A (p.Val5638=) rs777955085 0.00001
NM_001374736.1(DST):c.16941+9G>T rs2096970920 0.00001
NM_001374736.1(DST):c.17070T>C (p.Asp5690=) rs534757940 0.00001
NM_001374736.1(DST):c.17108+9T>C rs1190429612 0.00001
NM_001374736.1(DST):c.17109-9C>T rs771973757 0.00001
NM_001374736.1(DST):c.17133G>A (p.Ser5711=) rs780435915 0.00001
NM_001374736.1(DST):c.17220C>T (p.Pro5740=) rs1312055155 0.00001
NM_001374736.1(DST):c.17268+7T>C rs1462522389 0.00001
NM_001374736.1(DST):c.17520G>A (p.Val5840=) rs373575965 0.00001
NM_001374736.1(DST):c.17547C>T (p.Val5849=) rs1476749742 0.00001
NM_001374736.1(DST):c.17596-15T>C rs1333730917 0.00001
NM_001374736.1(DST):c.17658A>G (p.Leu5886=) rs571796812 0.00001
NM_001374736.1(DST):c.1779-6T>C rs2098916435 0.00001
NM_001374736.1(DST):c.17817C>T (p.His5939=) rs769643988 0.00001
NM_001374736.1(DST):c.18039A>G (p.Val6013=) rs1339084522 0.00001
NM_001374736.1(DST):c.18072C>T (p.Ser6024=) rs747333827 0.00001
NM_001374736.1(DST):c.18249+10T>C rs2096617707 0.00001
NM_001374736.1(DST):c.18351A>C (p.Ser6117=) rs1210353839 0.00001
NM_001374736.1(DST):c.18357+15G>A rs773880544 0.00001
NM_001374736.1(DST):c.1839C>T (p.Asp613=) rs777719362 0.00001
NM_001374736.1(DST):c.18606G>A (p.Lys6202=) rs769894107 0.00001
NM_001374736.1(DST):c.18702C>T (p.Asp6234=) rs759480002 0.00001
NM_001374736.1(DST):c.18747G>A (p.Val6249=) rs1276483032 0.00001
NM_001374736.1(DST):c.18777T>C (p.Thr6259=) rs1325785138 0.00001
NM_001374736.1(DST):c.18888C>T (p.Ile6296=) rs1456465402 0.00001
NM_001374736.1(DST):c.18921A>G (p.Glu6307=) rs758985783 0.00001
NM_001374736.1(DST):c.1899G>A (p.Val633=) rs746002438 0.00001
NM_001374736.1(DST):c.19013-7T>C rs749521618 0.00001
NM_001374736.1(DST):c.19141T>C (p.Leu6381=) rs1457248791 0.00001
NM_001374736.1(DST):c.19230A>G (p.Glu6410=) rs769762490 0.00001
NM_001374736.1(DST):c.19233A>G (p.Ala6411=) rs1355998778 0.00001
NM_001374736.1(DST):c.19362+8T>G rs756810038 0.00001
NM_001374736.1(DST):c.19470A>G (p.Val6490=) rs773314213 0.00001
NM_001374736.1(DST):c.19533C>T (p.Leu6511=) rs746754823 0.00001
NM_001374736.1(DST):c.19693C>T (p.Leu6565=) rs1427245753 0.00001
NM_001374736.1(DST):c.19698A>G (p.Lys6566=) rs1050039958 0.00001
NM_001374736.1(DST):c.19893T>C (p.His6631=) rs771233472 0.00001
NM_001374736.1(DST):c.2016A>G (p.Gln672=) rs1369192665 0.00001
NM_001374736.1(DST):c.20190G>A (p.Pro6730=) rs764337606 0.00001
NM_001374736.1(DST):c.20223+20C>G rs770585780 0.00001
NM_001374736.1(DST):c.2027+17T>C rs748002906 0.00001
NM_001374736.1(DST):c.20367G>A (p.Ser6789=) rs527722818 0.00001
NM_001374736.1(DST):c.21048-5C>T rs777699585 0.00001
NM_001374736.1(DST):c.21100C>T (p.Leu7034=) rs767433417 0.00001
NM_001374736.1(DST):c.21102A>G (p.Leu7034=) rs1176091834 0.00001
NM_001374736.1(DST):c.21141G>A (p.Gln7047=) rs2095527587 0.00001
NM_001374736.1(DST):c.21231G>A (p.Lys7077=) rs748287972 0.00001
NM_001374736.1(DST):c.21324G>A (p.Gln7108=) rs1257017632 0.00001
NM_001374736.1(DST):c.21327A>G (p.Glu7109=) rs375126533 0.00001
NM_001374736.1(DST):c.21402+12G>C rs754645711 0.00001
NM_001374736.1(DST):c.21456G>A (p.Ala7152=) rs780580029 0.00001
NM_001374736.1(DST):c.21531+11T>C rs771920987 0.00001
NM_001374736.1(DST):c.21858A>G (p.Glu7286=) rs762689413 0.00001
NM_001374736.1(DST):c.21864+13T>A rs1464509916 0.00001
NM_001374736.1(DST):c.21865-20C>T rs762408429 0.00001
NM_001374736.1(DST):c.2190C>T (p.Thr730=) rs756775878 0.00001
NM_001374736.1(DST):c.2196G>T (p.Gly732=) rs1010235023 0.00001
NM_001374736.1(DST):c.21972C>T (p.Val7324=) rs770208009 0.00001
NM_001374736.1(DST):c.22110G>A (p.Ala7370=) rs763706326 0.00001
NM_001374736.1(DST):c.22287G>A (p.Thr7429=) rs781039354 0.00001
NM_001374736.1(DST):c.22413A>C (p.Ala7471=) rs755207298 0.00001
NM_001374736.1(DST):c.22467C>T (p.Ile7489=) rs765285817 0.00001
NM_001374736.1(DST):c.22551+16A>G rs1039532774 0.00001
NM_001374736.1(DST):c.22584G>A (p.Gln7528=) rs753660669 0.00001
NM_001374736.1(DST):c.22687+18A>G rs1014589062 0.00001
NM_001374736.1(DST):c.23220A>T (p.Pro7740=) rs765987178 0.00001
NM_001374736.1(DST):c.23310C>T (p.Ser7770=) rs1036786598 0.00001
NM_001374736.1(DST):c.23361A>G (p.Arg7787=) rs2094190914 0.00001
NM_001374736.1(DST):c.2358A>G (p.Ser786=) rs780496854 0.00001
NM_001374736.1(DST):c.2430A>C (p.Thr810=) rs1360148812 0.00001
NM_001374736.1(DST):c.2670A>G (p.Arg890=) rs1345310282 0.00001
NM_001374736.1(DST):c.2697+9_2697+10insC rs1554548438 0.00001
NM_001374736.1(DST):c.2752C>T (p.Arg918Cys) rs202110806 0.00001
NM_001374736.1(DST):c.2856T>C (p.His952=) rs759732250 0.00001
NM_001374736.1(DST):c.2859+8C>T rs774279266 0.00001
NM_001374736.1(DST):c.2976G>A (p.Ala992=) rs755236728 0.00001
NM_001374736.1(DST):c.3057C>T (p.Phe1019=) rs1268016169 0.00001
NM_001374736.1(DST):c.3099G>A (p.Arg1033=) rs774095463 0.00001
NM_001374736.1(DST):c.3187-11T>G rs776200597 0.00001
NM_001374736.1(DST):c.3261A>G (p.Gln1087=) rs756201295 0.00001
NM_001374736.1(DST):c.3318C>T (p.Ile1106=) rs375817273 0.00001
NM_001374736.1(DST):c.3357C>T (p.Asp1119=) rs757167060 0.00001
NM_001374736.1(DST):c.3426G>A (p.Glu1142=) rs1276209420 0.00001
NM_001374736.1(DST):c.3444G>T (p.Val1148=) rs2098809287 0.00001
NM_001374736.1(DST):c.3477G>A (p.Ala1159=) rs201509973 0.00001
NM_001374736.1(DST):c.3585T>C (p.Asn1195=) rs1213338072 0.00001
NM_001374736.1(DST):c.3618T>C (p.Ala1206=) rs761042846 0.00001
NM_001374736.1(DST):c.3660A>G (p.Leu1220=) rs1466470680 0.00001
NM_001374736.1(DST):c.3747A>G (p.Glu1249=) rs1381176409 0.00001
NM_001374736.1(DST):c.3964-10T>C rs376752835 0.00001
NM_001374736.1(DST):c.4143-17T>G rs777417829 0.00001
NM_001374736.1(DST):c.4143-19G>A rs752238080 0.00001
NM_001374736.1(DST):c.4431A>G (p.Gln1477=) rs766624513 0.00001
NM_001374736.1(DST):c.4458T>C (p.His1486=) rs776305444 0.00001
NM_001374736.1(DST):c.4507C>T (p.Leu1503=) rs371885526 0.00001
NM_001374736.1(DST):c.4593G>A (p.Gln1531=) rs774123568 0.00001
NM_001374736.1(DST):c.4716A>G (p.Thr1572=) rs749460129 0.00001
NM_001374736.1(DST):c.4770A>G (p.Gln1590=) rs1445667459 0.00001
NM_001374736.1(DST):c.5088G>A (p.Lys1696=) rs759984134 0.00001
NM_001374736.1(DST):c.5173T>C (p.Leu1725=) rs2098536029 0.00001
NM_001374736.1(DST):c.5199G>A (p.Gln1733=) rs552582917 0.00001
NM_001374736.1(DST):c.5244A>G (p.Gln1748=) rs1398606730 0.00001
NM_001723.7(DST):c.114A>C (p.Pro38=) rs1196974149 0.00001
NM_001723.7(DST):c.129T>C (p.Ser43=) rs764913069 0.00001
NM_001723.7(DST):c.141C>T (p.Phe47=) rs141587299 0.00001
NM_001723.7(DST):c.3486G>A (p.Pro1162=) rs373842697 0.00001
NM_001723.7(DST):c.3627C>T (p.Ala1209=) rs538627825 0.00001
NM_001723.7(DST):c.3801G>A (p.Glu1267=) rs151250081 0.00001
NM_001723.7(DST):c.3817T>C (p.Leu1273=) rs930763473 0.00001
NM_001723.7(DST):c.4017G>A (p.Pro1339=) rs781157616 0.00001
NM_001723.7(DST):c.4050G>A (p.Thr1350=) rs377356403 0.00001
NM_001723.7(DST):c.4092C>G (p.Leu1364=) rs773365984 0.00001
NM_001723.7(DST):c.4104A>G (p.Val1368=) rs768607392 0.00001
NM_001723.7(DST):c.4110A>G (p.Glu1370=) rs571317621 0.00001
NM_001723.7(DST):c.4167T>C (p.Leu1389=) rs765411314 0.00001
NM_001723.7(DST):c.4263G>A (p.Lys1421=) rs750495787 0.00001
NM_001723.7(DST):c.4422A>G (p.Glu1474=) rs772559320 0.00001
NM_001723.7(DST):c.4464C>T (p.Asp1488=) rs80337136 0.00001
NM_001723.7(DST):c.4485T>C (p.Ala1495=) rs751282273 0.00001
NM_001723.7(DST):c.4539T>C (p.Asp1513=) rs768158783 0.00001
NM_001723.7(DST):c.4788A>G (p.Glu1596=) rs753399512 0.00001
NM_001723.7(DST):c.4917G>A (p.Glu1639=) rs752171457 0.00001
NM_001723.7(DST):c.4971A>G (p.Gln1657=) rs2098659869 0.00001
NM_001723.7(DST):c.5175A>G (p.Leu1725=) rs772996445 0.00001
NM_001723.7(DST):c.5457C>T (p.His1819=) rs773960159 0.00001
NM_001723.7(DST):c.5514G>A (p.Gln1838=) rs1285263997 0.00001
NM_001723.7(DST):c.5700T>A (p.Thr1900=) rs758030172 0.00001
NM_001723.7(DST):c.5835A>C (p.Pro1945=) rs754355507 0.00001
NM_001723.7(DST):c.5844A>G (p.Lys1948=) rs1336074594 0.00001
NM_001723.7(DST):c.5886A>G (p.Thr1962=) rs141397420 0.00001
NM_001723.7(DST):c.6007G>A (p.Ala2003Thr) rs74874398 0.00001
NM_001723.7(DST):c.6042C>T (p.Pro2014=) rs758737887 0.00001
NM_001723.7(DST):c.6081A>G (p.Thr2027=) rs368341445 0.00001
NM_001723.7(DST):c.6123T>C (p.Ser2041=) rs766230887 0.00001
NM_001723.7(DST):c.6306G>A (p.Val2102=) rs564521119 0.00001
NM_001723.7(DST):c.6402G>A (p.Thr2134=) rs770236010 0.00001
NM_001723.7(DST):c.6471C>T (p.Ala2157=) rs774196676 0.00001
NM_001723.7(DST):c.6513A>G (p.Leu2171=) rs777489252 0.00001
NM_001723.7(DST):c.6528A>C (p.Ala2176=) rs767540132 0.00001
NM_001723.7(DST):c.6603C>T (p.Asp2201=) rs1275661720 0.00001
NM_001723.7(DST):c.6672A>G (p.Thr2224=) rs761923573 0.00001
NM_001723.7(DST):c.6744G>A (p.Gln2248=) rs1257849550 0.00001
NM_001723.7(DST):c.6891C>T (p.Asn2297=) rs1331031276 0.00001
NM_001723.7(DST):c.6975G>A (p.Glu2325=) rs765817163 0.00001
NM_001723.7(DST):c.7098T>C (p.Tyr2366=) rs768382656 0.00001
NM_001723.7(DST):c.7116G>A (p.Gln2372=) rs779359385 0.00001
NM_001723.7(DST):c.7119A>G (p.Gln2373=) rs2098620303 0.00001
NM_001723.7(DST):c.7197A>G (p.Leu2399=) rs1586728110 0.00001
NM_001723.7(DST):c.7323G>A (p.Lys2441=) rs767241595 0.00001
NM_001723.7(DST):c.7341T>C (p.Pro2447=) rs1586721865 0.00001
NM_001723.7(DST):c.7408T>C (p.Leu2470=) rs1563207693 0.00001
NM_001723.7(DST):c.7449A>G (p.Gln2483=) rs147198836 0.00001
NM_001723.7(DST):c.7503C>T (p.Ala2501=) rs754482991 0.00001
NM_001723.7(DST):c.7524G>T (p.Leu2508=) rs1355225971 0.00001
NM_001723.7(DST):c.7692G>T (p.Gly2564=) rs1020828510 0.00001
NM_001723.7(DST):c.7932C>T (p.Ser2644=) rs1187500129 0.00001
NM_001723.7(DST):c.90T>C (p.Asn30=) rs753112845 0.00001
NM_001374736.1(DST):c.11580C>T (p.Leu3860=)
NM_001374736.1(DST):c.11695-10G>A rs1211658580
NM_001374736.1(DST):c.11697A>G (p.Glu3899=)
NM_001374736.1(DST):c.11700A>G (p.Leu3900=) rs2152698033
NM_001374736.1(DST):c.11745G>A (p.Val3915=) rs772436994
NM_001374736.1(DST):c.11907A>C (p.Ala3969=) rs2152697824
NM_001374736.1(DST):c.11928+7A>G rs2098413478
NM_001374736.1(DST):c.11964C>T (p.Thr3988=) rs1487278628
NM_001374736.1(DST):c.12081C>T (p.Gly4027=)
NM_001374736.1(DST):c.12204C>T (p.His4068=)
NM_001374736.1(DST):c.12327G>A (p.Lys4109=) rs2098331279
NM_001374736.1(DST):c.12333G>A (p.Leu4111=) rs2152688870
NM_001374736.1(DST):c.12354A>T (p.Ala4118=) rs1231711765
NM_001374736.1(DST):c.12579C>T (p.Tyr4193=)
NM_001374736.1(DST):c.12723T>G (p.Ser4241=) rs2152688463
NM_001374736.1(DST):c.12810A>G (p.Gly4270=) rs2098290744
NM_001374736.1(DST):c.12867C>T (p.Asp4289=) rs2098289560
NM_001374736.1(DST):c.12888A>G (p.Gln4296=) rs201201114
NM_001374736.1(DST):c.12903+10G>A rs201012735
NM_001374736.1(DST):c.12903+10G>T
NM_001374736.1(DST):c.12903+10_12903+11delinsTT
NM_001374736.1(DST):c.12903+19A>G
NM_001374736.1(DST):c.12903+19A>T rs1317624735
NM_001374736.1(DST):c.12903+9_12903+10del rs2152685476
NM_001374736.1(DST):c.12904-15C>T
NM_001374736.1(DST):c.12981C>T (p.Ala4327=) rs2152636982
NM_001374736.1(DST):c.13027+17C>T rs1307309702
NM_001374736.1(DST):c.13065T>C (p.Ser4355=) rs2152618298
NM_001374736.1(DST):c.13116T>C (p.Ser4372=) rs2152618184
NM_001374736.1(DST):c.13197A>G (p.Leu4399=) rs2152618031
NM_001374736.1(DST):c.13236+19A>T
NM_001374736.1(DST):c.13237-17T>G rs2152614735
NM_001374736.1(DST):c.13555-13T>C rs2152611333
NM_001374736.1(DST):c.13555-20A>T rs2152611387
NM_001374736.1(DST):c.13710C>A (p.Thr4570=) rs1015870115
NM_001374736.1(DST):c.13878+8A>G rs2097755190
NM_001374736.1(DST):c.14069-5C>T rs2152566772
NM_001374736.1(DST):c.14328G>A (p.Leu4776=) rs1366898093
NM_001374736.1(DST):c.14367A>G (p.Lys4789=) rs1203098297
NM_001374736.1(DST):c.14412C>T (p.Pro4804=) rs2152565502
NM_001374736.1(DST):c.14440+11T>C
NM_001374736.1(DST):c.14440+8G>A rs2152565479
NM_001374736.1(DST):c.14441-10T>C rs1422037197
NM_001374736.1(DST):c.14441-7_14441-6del rs773495985
NM_001374736.1(DST):c.14505C>T (p.Ser4835=) rs758911241
NM_001374736.1(DST):c.14640+19C>T rs757415475
NM_001374736.1(DST):c.14640+8T>G rs2097441611
NM_001374736.1(DST):c.14641-4T>C rs757638125
NM_001374736.1(DST):c.14646G>A (p.Leu4882=) rs887717915
NM_001374736.1(DST):c.14655A>G (p.Glu4885=) rs2097404194
NM_001374736.1(DST):c.14718G>A (p.Arg4906=) rs2152559964
NM_001374736.1(DST):c.14772G>A (p.Val4924=) rs1367030512
NM_001374736.1(DST):c.14880T>C (p.Ser4960=) rs1322303762
NM_001374736.1(DST):c.14904T>C (p.Asn4968=)
NM_001374736.1(DST):c.14937C>T (p.His4979=) rs773501882
NM_001374736.1(DST):c.15147C>G (p.Val5049=) rs764514722
NM_001374736.1(DST):c.15327T>A (p.Ala5109=) rs779500842
NM_001374736.1(DST):c.15486A>G (p.Lys5162=) rs1584777193
NM_001374736.1(DST):c.15534C>T (p.Leu5178=) rs778200825
NM_001374736.1(DST):c.15624A>G (p.Leu5208=) rs2152555913
NM_001374736.1(DST):c.15690T>C (p.Asn5230=) rs2152555853
NM_001374736.1(DST):c.15699C>T (p.Leu5233=) rs1419108007
NM_001374736.1(DST):c.15711G>A (p.Glu5237=) rs530295193
NM_001374736.1(DST):c.15804G>A (p.Leu5268=) rs2152555720
NM_001374736.1(DST):c.15888A>G (p.Leu5296=) rs2097345646
NM_001374736.1(DST):c.15903G>A (p.Ser5301=) rs371189011
NM_001374736.1(DST):c.15903G>C (p.Ser5301=)
NM_001374736.1(DST):c.15903G>T (p.Ser5301=) rs371189011
NM_001374736.1(DST):c.16107G>A (p.Gln5369=)
NM_001374736.1(DST):c.16116A>G (p.Glu5372=) rs1584766102
NM_001374736.1(DST):c.16401G>A (p.Glu5467=) rs2152554986
NM_001374736.1(DST):c.16428A>G (p.Leu5476=)
NM_001374736.1(DST):c.16608+15A>G rs2097336854
NM_001374736.1(DST):c.16701C>T (p.Ser5567=) rs747136161
NM_001374736.1(DST):c.16770+9C>G rs747510950
NM_001374736.1(DST):c.16788C>T (p.Ala5596=) rs2152521879
NM_001374736.1(DST):c.16942-10T>C rs2096913614
NM_001374736.1(DST):c.16956G>A (p.Leu5652=) rs371645175
NM_001374736.1(DST):c.16977G>A (p.Thr5659=) rs954410279
NM_001374736.1(DST):c.17028C>G (p.Pro5676=) rs376195050
NM_001374736.1(DST):c.17028C>T (p.Pro5676=)
NM_001374736.1(DST):c.17133G>T (p.Ser5711=) rs780435915
NM_001374736.1(DST):c.17157A>G (p.Glu5719=) rs764438079
NM_001374736.1(DST):c.17190C>T (p.Thr5730=)
NM_001374736.1(DST):c.17280T>C (p.Asp5760=) rs1562584237
NM_001374736.1(DST):c.17385A>G (p.Leu5795=) rs781167503
NM_001374736.1(DST):c.17522A>T (p.His5841Leu) rs758568001
NM_001374736.1(DST):c.17577G>A (p.Lys5859=) rs2152511460
NM_001374736.1(DST):c.17596-11T>C rs1215526553
NM_001374736.1(DST):c.17601G>T (p.Leu5867=) rs1301592706
NM_001374736.1(DST):c.17730G>A (p.Arg5910=) rs2152508238
NM_001374736.1(DST):c.17772T>A (p.Thr5924=) rs775714240
NM_001374736.1(DST):c.1779-109C>G
NM_001374736.1(DST):c.1779-16T>C
NM_001374736.1(DST):c.1779-19_1779-15del rs772747118
NM_001374736.1(DST):c.1779-8T>C
NM_001374736.1(DST):c.17880T>G (p.Val5960=) rs2152508091
NM_001374736.1(DST):c.17922+9T>A
NM_001374736.1(DST):c.17928G>A (p.Leu5976=) rs771628122
NM_001374736.1(DST):c.17940T>G (p.Ala5980=) rs2096799844
NM_001374736.1(DST):c.18081C>T (p.Ile6027=) rs2152505889
NM_001374736.1(DST):c.18117G>T (p.Leu6039=) rs1212469644
NM_001374736.1(DST):c.18123A>G (p.Ser6041=) rs2096797253
NM_001374736.1(DST):c.18249+12del
NM_001374736.1(DST):c.18250-11G>A rs2096613681
NM_001374736.1(DST):c.18250-11G>T rs2096613681
NM_001374736.1(DST):c.18250-7A>T rs771413644
NM_001374736.1(DST):c.18276C>T (p.His6092=)
NM_001374736.1(DST):c.18480T>C (p.Leu6160=) rs2096571100
NM_001374736.1(DST):c.18576+10G>A rs2152485973
NM_001374736.1(DST):c.18577-4A>G
NM_001374736.1(DST):c.18621G>A (p.Lys6207=) rs1583547445
NM_001374736.1(DST):c.1869G>A (p.Gln623=) rs2152781448
NM_001374736.1(DST):c.1872+16G>A
NM_001374736.1(DST):c.1872+7T>G
NM_001374736.1(DST):c.1873-4A>G
NM_001374736.1(DST):c.1873-9A>G
NM_001374736.1(DST):c.18781-18T>G
NM_001374736.1(DST):c.18838A>C (p.Arg6280=) rs2152473917
NM_001374736.1(DST):c.18882A>G (p.Glu6294=) rs2152473854
NM_001374736.1(DST):c.19012+15A>G
NM_001374736.1(DST):c.19013-19A>T
NM_001374736.1(DST):c.19047T>C (p.Ile6349=) rs2152471809
NM_001374736.1(DST):c.19056C>T (p.Asn6352=) rs1251405028
NM_001374736.1(DST):c.19074A>G (p.Glu6358=) rs1242855841
NM_001374736.1(DST):c.19095G>T (p.Leu6365=) rs749337601
NM_001374736.1(DST):c.19240-10C>G rs763787804
NM_001374736.1(DST):c.19320T>C (p.Cys6440=) rs2152468572
NM_001374736.1(DST):c.19491A>G (p.Ala6497=) rs1583341150
NM_001374736.1(DST):c.19536A>G (p.Glu6512=)
NM_001374736.1(DST):c.19560G>A (p.Glu6520=) rs1394306212
NM_001374736.1(DST):c.19566+11G>A rs2096232005
NM_001374736.1(DST):c.19566+15T>C rs2152462654
NM_001374736.1(DST):c.19566+7G>T rs2152462716
NM_001374736.1(DST):c.19590A>G (p.Gln6530=) rs1164897156
NM_001374736.1(DST):c.1965T>C (p.His655=) rs1587583413
NM_001374736.1(DST):c.19683A>G (p.Pro6561=) rs1055906207
NM_001374736.1(DST):c.19741-7del rs2152458367
NM_001374736.1(DST):c.19815A>G (p.Thr6605=) rs1314799721
NM_001374736.1(DST):c.19821C>G (p.Thr6607=) rs756132163
NM_001374736.1(DST):c.19821C>T (p.Thr6607=) rs756132163
NM_001374736.1(DST):c.19896+9C>T rs777689743
NM_001374736.1(DST):c.19902C>T (p.Leu6634=) rs1326737777
NM_001374736.1(DST):c.19941C>A (p.Ala6647=) rs747978357
NM_001374736.1(DST):c.19941C>T (p.Ala6647=) rs747978357
NM_001374736.1(DST):c.1995A>G (p.Gly665=) rs2152780640
NM_001374736.1(DST):c.20064G>A (p.Arg6688=) rs2095976013
NM_001374736.1(DST):c.20109T>C (p.His6703=) rs1243729426
NM_001374736.1(DST):c.20223+7_20223+8dup rs757863175
NM_001374736.1(DST):c.20224-15G>A rs752053786
NM_001374736.1(DST):c.20265G>A (p.Lys6755=) rs376995632
NM_001374736.1(DST):c.2027+12A>G
NM_001374736.1(DST):c.20271G>A (p.Leu6757=) rs2095838184
NM_001374736.1(DST):c.2028-14G>A
NM_001374736.1(DST):c.2028-19C>T
NM_001374736.1(DST):c.2028-20C>G
NM_001374736.1(DST):c.20382C>G (p.Leu6794=) rs2152444069
NM_001374736.1(DST):c.20394+17A>C
NM_001374736.1(DST):c.20395-17A>C
NM_001374736.1(DST):c.2043T>C (p.Arg681=) rs2152777692
NM_001374736.1(DST):c.20451C>T (p.Asp6817=) rs1562343147
NM_001374736.1(DST):c.20511C>G (p.Leu6837=) rs373540758
NM_001374736.1(DST):c.20511C>T (p.Leu6837=)
NM_001374736.1(DST):c.20559C>T (p.Ala6853=) rs2152440374
NM_001374736.1(DST):c.20596C>T (p.Leu6866=) rs1439679404
NM_001374736.1(DST):c.2067C>T (p.Asn689=)
NM_001374736.1(DST):c.2079T>C (p.Ser693=) rs2098884845
NM_001374736.1(DST):c.2082G>C (p.Val694=) rs1554550933
NM_001374736.1(DST):c.20847C>T (p.Asp6949=) rs781606045
NM_001374736.1(DST):c.2101C>T (p.Leu701=)
NM_001374736.1(DST):c.2103G>A (p.Leu701=)
NM_001374736.1(DST):c.21047+9T>A rs2152431779
NM_001374736.1(DST):c.21048-14A>G
NM_001374736.1(DST):c.21048-4C>G rs1306860934
NM_001374736.1(DST):c.21183G>T (p.Val7061=) rs2152427374
NM_001374736.1(DST):c.21195C>T (p.Ile7065=)
NM_001374736.1(DST):c.21204C>T (p.His7068=) rs2152427364
NM_001374736.1(DST):c.21234G>A (p.Arg7078=) rs781409379
NM_001374736.1(DST):c.21243T>C (p.Ser7081=) rs779915352
NM_001374736.1(DST):c.21403-23TG[16] rs144810945
NM_001374736.1(DST):c.21403-23TG[17] rs144810945
NM_001374736.1(DST):c.21403-23TG[20] rs144810945
NM_001374736.1(DST):c.21403-23TG[21] rs144810945
NM_001374736.1(DST):c.21403-23TG[8] rs144810945
NM_001374736.1(DST):c.21510G>A (p.Arg7170=) rs2152421224
NM_001374736.1(DST):c.21570A>G (p.Leu7190=) rs2152412086
NM_001374736.1(DST):c.21618C>G (p.Pro7206=) rs748595263
NM_001374736.1(DST):c.21675+10T>A rs2152411896
NM_001374736.1(DST):c.21676-6T>C rs2152409389
NM_001374736.1(DST):c.21676-9C>T rs2095186499
NM_001374736.1(DST):c.21717T>C (p.Ser7239=) rs2152409352
NM_001374736.1(DST):c.21861C>T (p.His7287=)
NM_001374736.1(DST):c.21864+7T>C rs2152409183
NM_001374736.1(DST):c.2193A>T (p.Ser731=) rs2152777541
NM_001374736.1(DST):c.21951A>G (p.Ser7317=) rs1306326928
NM_001374736.1(DST):c.21995-10A>G
NM_001374736.1(DST):c.22131C>T (p.Leu7377=) rs2152398970
NM_001374736.1(DST):c.2221C>T (p.Leu741=)
NM_001374736.1(DST):c.22248C>T (p.Phe7416=) rs2152396881
NM_001374736.1(DST):c.22251C>T (p.Phe7417=) rs908357353
NM_001374736.1(DST):c.22322-20C>T rs1448374052
NM_001374736.1(DST):c.22338C>T (p.Arg7446=) rs1275662424
NM_001374736.1(DST):c.22359A>C (p.Ala7453=) rs2152394817
NM_001374736.1(DST):c.22470A>G (p.Glu7490=) rs2152394718
NM_001374736.1(DST):c.22477-14A>G rs781272563
NM_001374736.1(DST):c.22479G>A (p.Val7493=)
NM_001374736.1(DST):c.2253A>G (p.Ser751=)
NM_001374736.1(DST):c.22551+18T>A
NM_001374736.1(DST):c.22551+8T>C rs2152394198
NM_001374736.1(DST):c.22552-20C>A
NM_001374736.1(DST):c.22558C>T (p.Leu7520=) rs1351076430
NM_001374736.1(DST):c.22593A>G (p.Arg7531=) rs752263952
NM_001374736.1(DST):c.22593A>T (p.Arg7531=) rs752263952
NM_001374736.1(DST):c.2268C>A (p.Ser756=) rs1054499790
NM_001374736.1(DST):c.22764A>G (p.Lys7588=) rs2094448793
NM_001374736.1(DST):c.2280A>G (p.Pro760=)
NM_001374736.1(DST):c.22863A>C (p.Pro7621=) rs1428255507
NM_001374736.1(DST):c.22875C>A (p.Gly7625=) rs2094445311
NM_001374736.1(DST):c.22893C>T (p.Ser7631=) rs2094444503
NM_001374736.1(DST):c.22917G>A (p.Ala7639=) rs567935553
NM_001374736.1(DST):c.22950C>A (p.Thr7650=) rs2094442057
NM_001374736.1(DST):c.22960-8C>T rs1218502975
NM_001374736.1(DST):c.23022T>A (p.Thr7674=) rs1479060665
NM_001374736.1(DST):c.23061A>T (p.Pro7687=) rs2152378922
NM_001374736.1(DST):c.23070+7T>G rs2094414094
NM_001374736.1(DST):c.23071-18G>A rs2152370537
NM_001374736.1(DST):c.2310C>T (p.Phe770=) rs2152777426
NM_001374736.1(DST):c.2316A>G (p.Ser772=) rs186557063
NM_001374736.1(DST):c.23194+19T>A rs2152370165
NM_001374736.1(DST):c.23195-6C>T
NM_001374736.1(DST):c.23195-8T>C rs2152366533
NM_001374736.1(DST):c.23250C>T (p.Ser7750=) rs2152366376
NM_001374736.1(DST):c.23304C>A (p.Ile7768=)
NM_001374736.1(DST):c.23348G>C (p.Arg7783Thr)
NM_001374736.1(DST):c.2340A>G (p.Ser780=) rs372907839
NM_001374736.1(DST):c.23415G>A (p.Arg7805=) rs2094189177
NM_001374736.1(DST):c.2457T>C (p.Val819=) rs2152777216
NM_001374736.1(DST):c.2490+10T>C
NM_001374736.1(DST):c.2490+17_2490+21del rs778761769
NM_001374736.1(DST):c.2490+8A>G
NM_001374736.1(DST):c.2490+9A>G rs759815239
NM_001374736.1(DST):c.2490+9A>T
NM_001374736.1(DST):c.2491-8G>A rs372435739
NM_001374736.1(DST):c.2491-9T>C
NM_001374736.1(DST):c.2497C>T (p.Leu833=) rs2152777015
NM_001374736.1(DST):c.2520A>G (p.Ser840=) rs139336917
NM_001374736.1(DST):c.2620-10C>T
NM_001374736.1(DST):c.2652T>C (p.Tyr884=)
NM_001374736.1(DST):c.2655A>G (p.Ala885=)
NM_001374736.1(DST):c.2668A>C (p.Arg890=)
NM_001374736.1(DST):c.2688A>G (p.Ala896=)
NM_001374736.1(DST):c.2697+13_2697+16del rs751060715
NM_001374736.1(DST):c.2697+20C>A
NM_001374736.1(DST):c.2808T>C (p.Tyr936=)
NM_001374736.1(DST):c.2826C>T (p.Asn942=) rs1316661234
NM_001374736.1(DST):c.2829C>T (p.Thr943=)
NM_001374736.1(DST):c.2859+13T>G
NM_001374736.1(DST):c.2859+18A>G
NM_001374736.1(DST):c.2859+19C>T
NM_001374736.1(DST):c.2860-5T>G
NM_001374736.1(DST):c.2919A>G (p.Ala973=)
NM_001374736.1(DST):c.2964+17T>C rs756849946
NM_001374736.1(DST):c.2964+20T>C
NM_001374736.1(DST):c.2970C>T (p.Tyr990=)
NM_001374736.1(DST):c.3024G>A (p.Val1008=) rs2152770282
NM_001374736.1(DST):c.3030G>A (p.Gln1010=)
NM_001374736.1(DST):c.3060+17A>G
NM_001374736.1(DST):c.3061-16T>C rs2152767563
NM_001374736.1(DST):c.3061-6C>T
NM_001374736.1(DST):c.3084T>C (p.Ala1028=)
NM_001374736.1(DST):c.3111T>C (p.Asp1037=) rs1349181093
NM_001374736.1(DST):c.3186+11A>C
NM_001374736.1(DST):c.3187-13A>G
NM_001374736.1(DST):c.3187-18A>G
NM_001374736.1(DST):c.3258T>C (p.Ile1086=)
NM_001374736.1(DST):c.3285T>C (p.Cys1095=) rs2152766009
NM_001374736.1(DST):c.3321T>C (p.Cys1107=)
NM_001374736.1(DST):c.3339+9A>G
NM_001374736.1(DST):c.3340-19G>C
NM_001374736.1(DST):c.3351C>T (p.Tyr1117=) rs2152765614
NM_001374736.1(DST):c.3413C>G (p.Pro1138Arg)
NM_001374736.1(DST):c.3453C>T (p.Thr1151=)
NM_001374736.1(DST):c.3480G>A (p.Val1160=) rs1554536257
NM_001374736.1(DST):c.3494+13T>C
NM_001374736.1(DST):c.3494+9A>G
NM_001374736.1(DST):c.3495-7A>G rs777837070
NM_001374736.1(DST):c.3495-9G>A
NM_001374736.1(DST):c.3507G>A (p.Gln1169=) rs2152764940
NM_001374736.1(DST):c.3537G>A (p.Glu1179=) rs2152764915
NM_001374736.1(DST):c.3573T>C (p.His1191=) rs1587320934
NM_001374736.1(DST):c.3601C>A (p.Arg1201=)
NM_001374736.1(DST):c.3622-12G>C
NM_001374736.1(DST):c.3702C>T (p.Ser1234=)
NM_001374736.1(DST):c.3729A>C (p.Ser1243=)
NM_001374736.1(DST):c.3774T>C (p.Tyr1258=)
NM_001374736.1(DST):c.3777T>C (p.Tyr1259=)
NM_001374736.1(DST):c.3805+10G>T
NM_001374736.1(DST):c.3805+12G>T
NM_001374736.1(DST):c.3805+17C>T
NM_001374736.1(DST):c.3805+19T>G
NM_001374736.1(DST):c.3805+20G>T rs377469675
NM_001374736.1(DST):c.3806-13T>C
NM_001374736.1(DST):c.3806-15T>C
NM_001374736.1(DST):c.3819A>G (p.Glu1273=)
NM_001374736.1(DST):c.3870A>G (p.Leu1290=)
NM_001374736.1(DST):c.3963+19T>C
NM_001374736.1(DST):c.3963+7G>A rs371216097
NM_001374736.1(DST):c.3964-9G>A rs2098778410
NM_001374736.1(DST):c.3978G>A (p.Glu1326=)
NM_001374736.1(DST):c.3986G>A (p.Arg1329Gln) rs763518239
NM_001374736.1(DST):c.4035C>T (p.Phe1345=)
NM_001374736.1(DST):c.4080G>A (p.Glu1360=) rs753272271
NM_001374736.1(DST):c.4142+15T>A
NM_001374736.1(DST):c.4143-10C>G rs939051878
NM_001374736.1(DST):c.4143-4T>G rs2152757741
NM_001374736.1(DST):c.4164G>A (p.Val1388=)
NM_001374736.1(DST):c.4194C>T (p.Leu1398=)
NM_001374736.1(DST):c.4215A>G (p.Lys1405=) rs1421414844
NM_001374736.1(DST):c.4242T>C (p.Ala1414=)
NM_001374736.1(DST):c.4275T>C (p.Thr1425=) rs1192803206
NM_001374736.1(DST):c.4281+9C>G
NM_001374736.1(DST):c.4282-11A>T
NM_001374736.1(DST):c.4302T>C (p.Asp1434=) rs2152755941
NM_001374736.1(DST):c.4362T>C (p.Ser1454=)
NM_001374736.1(DST):c.4392G>A (p.Arg1464=)
NM_001374736.1(DST):c.4470C>T (p.Asp1490=)
NM_001374736.1(DST):c.4475+17del
NM_001374736.1(DST):c.4476-16G>C
NM_001374736.1(DST):c.4476-18C>T
NM_001374736.1(DST):c.4476-5C>T rs374983858
NM_001374736.1(DST):c.4500C>G (p.Gly1500=)
NM_001374736.1(DST):c.4515C>T (p.Tyr1505=) rs1227107949
NM_001374736.1(DST):c.4530C>T (p.Tyr1510=) rs2152753232
NM_001374736.1(DST):c.4539A>G (p.Leu1513=)
NM_001374736.1(DST):c.4611C>T (p.Thr1537=) rs776953508
NM_001374736.1(DST):c.4620A>G (p.Thr1540=) rs2152753143
NM_001374736.1(DST):c.4632A>G (p.Gln1544=) rs2152753135
NM_001374736.1(DST):c.4638+14A>G
NM_001374736.1(DST):c.4638+18C>T
NM_001374736.1(DST):c.4639-12G>A
NM_001374736.1(DST):c.4639-20T>C
NM_001374736.1(DST):c.4695T>C (p.Tyr1565=) rs2152751657
NM_001374736.1(DST):c.4710A>G (p.Ser1570=)
NM_001374736.1(DST):c.4722+18C>T
NM_001374736.1(DST):c.4722+20_4722+21del
NM_001374736.1(DST):c.4723-17T>C rs774583385
NM_001374736.1(DST):c.4723-6A>T rs2098723269
NM_001374736.1(DST):c.4773A>G (p.Gln1591=)
NM_001374736.1(DST):c.4830+12A>G rs1586981555
NM_001374736.1(DST):c.4830+18G>C
NM_001374736.1(DST):c.4830+20_4830+21del
NM_001374736.1(DST):c.4830+9A>C rs2152747838
NM_001374736.1(DST):c.4831-16T>C
NM_001374736.1(DST):c.4831-17T>C
NM_001374736.1(DST):c.4831-19T>C
NM_001374736.1(DST):c.4831-4G>A rs2152746799
NM_001374736.1(DST):c.4857T>C (p.Thr1619=) rs2152746758
NM_001374736.1(DST):c.4905A>G (p.Ser1635=) rs1238901442
NM_001374736.1(DST):c.4905A>T (p.Ser1635=)
NM_001374736.1(DST):c.4917G>A (p.Leu1639=)
NM_001374736.1(DST):c.4930-2941G>A rs1224803858
NM_001374736.1(DST):c.4930-2943del
NM_001374736.1(DST):c.4930-2944C>G
NM_001374736.1(DST):c.4930-3494C>T
NM_001374736.1(DST):c.4953A>G (p.Lys1651=)
NM_001374736.1(DST):c.5106A>C (p.Ala1702=) rs1586594481
NM_001374736.1(DST):c.5148-6A>G rs2098536263
NM_001374736.1(DST):c.5265T>C (p.Asp1755=) rs2152718007
NM_001723.7(DST):c.118C>T (p.Leu40=)
NM_001723.7(DST):c.165C>T (p.His55=) rs2152781868
NM_001723.7(DST):c.3360A>C (p.Ser1120=) rs772863390
NM_001723.7(DST):c.3375T>C (p.Arg1125=) rs2152740248
NM_001723.7(DST):c.3411A>G (p.Thr1137=)
NM_001723.7(DST):c.3466C>G (p.Arg1156Gly) rs577972555
NM_001723.7(DST):c.3498G>A (p.Glu1166=)
NM_001723.7(DST):c.3525G>A (p.Gln1175=) rs2152739966
NM_001723.7(DST):c.3618G>A (p.Glu1206=)
NM_001723.7(DST):c.3732A>G (p.Glu1244=)
NM_001723.7(DST):c.3831A>G (p.Leu1277=)
NM_001723.7(DST):c.3915A>C (p.Ala1305=)
NM_001723.7(DST):c.3939G>A (p.Gln1313=) rs1324705147
NM_001723.7(DST):c.3954A>G (p.Glu1318=)
NM_001723.7(DST):c.3963A>G (p.Arg1321=)
NM_001723.7(DST):c.4023A>G (p.Thr1341=) rs2152738824
NM_001723.7(DST):c.4077G>A (p.Gln1359=)
NM_001723.7(DST):c.4083A>G (p.Ala1361=)
NM_001723.7(DST):c.4101G>A (p.Gln1367=)
NM_001723.7(DST):c.4107T>C (p.Asp1369=) rs1586848548
NM_001723.7(DST):c.4155G>C (p.Leu1385=)
NM_001723.7(DST):c.4161T>C (p.Tyr1387=) rs1586846643
NM_001723.7(DST):c.4194A>T (p.Ser1398=)
NM_001723.7(DST):c.4264T>C (p.Leu1422=) rs1426265208
NM_001723.7(DST):c.4272G>C (p.Leu1424=) rs2152738057
NM_001723.7(DST):c.4293G>A (p.Glu1431=)
NM_001723.7(DST):c.4308A>G (p.Gln1436=) rs1487950350
NM_001723.7(DST):c.4404T>C (p.Asn1468=) rs1452905120
NM_001723.7(DST):c.4437A>G (p.Glu1479=)
NM_001723.7(DST):c.4455A>G (p.Arg1485=)
NM_001723.7(DST):c.4549T>C (p.Leu1517=)
NM_001723.7(DST):c.4554A>G (p.Glu1518=)
NM_001723.7(DST):c.4563A>G (p.Gln1521=)
NM_001723.7(DST):c.4614T>C (p.His1538=)
NM_001723.7(DST):c.4620G>A (p.Gln1540=)
NM_001723.7(DST):c.4659T>C (p.Asp1553=) rs978832786
NM_001723.7(DST):c.4671G>A (p.Arg1557=)
NM_001723.7(DST):c.4839A>G (p.Ala1613=)
NM_001723.7(DST):c.4881C>T (p.Ser1627=) rs757219517
NM_001723.7(DST):c.48T>C (p.Ser16=)
NM_001723.7(DST):c.4957C>T (p.Leu1653=) rs2152736003
NM_001723.7(DST):c.4977G>A (p.Leu1659=)
NM_001723.7(DST):c.4998G>A (p.Lys1666=) rs948986432
NM_001723.7(DST):c.5136A>G (p.Leu1712=)
NM_001723.7(DST):c.5163C>T (p.Asp1721=)
NM_001723.7(DST):c.5256G>A (p.Glu1752=) rs746535766
NM_001723.7(DST):c.5334C>T (p.Asp1778=)
NM_001723.7(DST):c.5343T>C (p.Ser1781=)
NM_001723.7(DST):c.5358C>T (p.Asn1786=)
NM_001723.7(DST):c.5376T>C (p.Asn1792=) rs746923141
NM_001723.7(DST):c.5385T>A (p.Leu1795=)
NM_001723.7(DST):c.5421T>A (p.Leu1807=)
NM_001723.7(DST):c.54T>C (p.Thr18=) rs1264900098
NM_001723.7(DST):c.5511C>T (p.Ala1837=) rs2152734685
NM_001723.7(DST):c.5538G>A (p.Lys1846=)
NM_001723.7(DST):c.5559C>T (p.Ile1853=)
NM_001723.7(DST):c.5565G>A (p.Glu1855=) rs767523875
NM_001723.7(DST):c.5577A>G (p.Gln1859=)
NM_001723.7(DST):c.5670G>A (p.Gln1890=) rs2152734220
NM_001723.7(DST):c.5685G>A (p.Leu1895=) rs186454978
NM_001723.7(DST):c.5685G>C (p.Leu1895=) rs186454978
NM_001723.7(DST):c.5703A>G (p.Gly1901=) rs2098649971
NM_001723.7(DST):c.5760A>G (p.Pro1920=) rs2152734017
NM_001723.7(DST):c.5814A>G (p.Gln1938=) rs764590338
NM_001723.7(DST):c.5838C>T (p.Leu1946=)
NM_001723.7(DST):c.5850A>G (p.Lys1950=)
NM_001723.7(DST):c.5892C>A (p.Thr1964=) rs146263203
NM_001723.7(DST):c.5892C>G (p.Thr1964=) rs146263203
NM_001723.7(DST):c.5892C>T (p.Thr1964=) rs146263203
NM_001723.7(DST):c.5952G>A (p.Lys1984=) rs2152733563
NM_001723.7(DST):c.5970G>C (p.Leu1990=)
NM_001723.7(DST):c.6078T>C (p.His2026=)
NM_001723.7(DST):c.6090A>G (p.Thr2030=) rs1417774465
NM_001723.7(DST):c.6129A>G (p.Glu2043=)
NM_001723.7(DST):c.6318T>G (p.Leu2106=) rs1221571496
NM_001723.7(DST):c.6319C>T (p.Leu2107=)
NM_001723.7(DST):c.6339G>A (p.Glu2113=)
NM_001723.7(DST):c.6351C>T (p.Leu2117=) rs377110563
NM_001723.7(DST):c.6393G>A (p.Lys2131=)
NM_001723.7(DST):c.6423G>A (p.Gly2141=)
NM_001723.7(DST):c.6441A>G (p.Thr2147=)
NM_001723.7(DST):c.6447A>G (p.Glu2149=) rs2152731419
NM_001723.7(DST):c.6510T>C (p.Phe2170=)
NM_001723.7(DST):c.6555A>G (p.Ser2185=)
NM_001723.7(DST):c.6567T>C (p.Tyr2189=) rs1554500971
NM_001723.7(DST):c.6570T>A (p.Ser2190=) rs2152731077
NM_001723.7(DST):c.6609A>G (p.Glu2203=) rs1313891533
NM_001723.7(DST):c.6636G>A (p.Glu2212=) rs2152730938
NM_001723.7(DST):c.6666T>G (p.Ser2222=) rs1586745341
NM_001723.7(DST):c.6768C>T (p.Asp2256=)
NM_001723.7(DST):c.6786T>C (p.Arg2262=)
NM_001723.7(DST):c.6816G>A (p.Gly2272=) rs768611198
NM_001723.7(DST):c.6816G>T (p.Gly2272=) rs768611198
NM_001723.7(DST):c.6849T>C (p.His2283=)
NM_001723.7(DST):c.6868A>C (p.Arg2290=) rs112473525
NM_001723.7(DST):c.6882T>C (p.Asn2294=)
NM_001723.7(DST):c.6978G>A (p.Arg2326=)
NM_001723.7(DST):c.6993C>T (p.Leu2331=)
NM_001723.7(DST):c.7044A>C (p.Ser2348=)
NM_001723.7(DST):c.7044A>G (p.Ser2348=) rs2098622028
NM_001723.7(DST):c.7053C>G (p.Thr2351=) rs2230867
NM_001723.7(DST):c.7056G>T (p.Val2352=) rs767589940
NM_001723.7(DST):c.7107T>G (p.Leu2369=) rs941444126
NM_001723.7(DST):c.7158G>T (p.Gly2386=)
NM_001723.7(DST):c.7185T>G (p.Thr2395=) rs574505826
NM_001723.7(DST):c.7203C>T (p.Phe2401=)
NM_001723.7(DST):c.7260T>C (p.Tyr2420=)
NM_001723.7(DST):c.7293T>C (p.Ala2431=)
NM_001723.7(DST):c.7359G>A (p.Leu2453=) rs558345330
NM_001723.7(DST):c.7389A>G (p.Leu2463=)
NM_001723.7(DST):c.7413T>C (p.Val2471=)
NM_001723.7(DST):c.7419G>T (p.Arg2473=) rs1554498664
NM_001723.7(DST):c.7425T>C (p.Thr2475=) rs901347298
NM_001723.7(DST):c.7470T>C (p.Ile2490=)
NM_001723.7(DST):c.7485C>T (p.Gly2495=)
NM_001723.7(DST):c.7533G>A (p.Glu2511=) rs1247577216
NM_001723.7(DST):c.7536G>A (p.Gly2512=) rs1586712983
NM_001723.7(DST):c.7536G>C (p.Gly2512=) rs1586712983
NM_001723.7(DST):c.7611A>G (p.Ser2537=)
NM_001723.7(DST):c.7659C>T (p.Ile2553=)
NM_001723.7(DST):c.7761C>A (p.Val2587=) rs138396829
NM_001723.7(DST):c.7824A>C (p.Thr2608=) rs376757243
NM_001723.7(DST):c.7839A>C (p.Thr2613=) rs145110038
NM_001723.7(DST):c.7839A>G (p.Thr2613=) rs145110038
NM_001723.7(DST):c.7842T>C (p.Tyr2614=) rs781669086
NM_001723.7(DST):c.7911C>T (p.Pro2637=)
NM_001723.7(DST):c.7920A>G (p.Thr2640=)
NM_001723.7(DST):c.7947C>G (p.Ser2649=)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.