ClinVar Miner

List of variants in gene TGM6 studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 394
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HGVS dbSNP gnomAD frequency
NM_198994.3(TGM6):c.1968-10C>T rs6036467 0.98682
NM_198994.3(TGM6):c.172A>G (p.Met58Val) rs2076405 0.93204
NM_198994.3(TGM6):c.425-189T>A rs6048642 0.92546
NM_198994.3(TGM6):c.544-255T>C rs2235609 0.90765
NM_198994.3(TGM6):c.7+303A>G rs2422754 0.79642
NM_198994.3(TGM6):c.7+63C>T rs2422753 0.78809
NM_198994.3(TGM6):c.425-232T>A rs6106621 0.65100
NM_198994.3(TGM6):c.850+12G>A rs2076404 0.61481
NM_198994.3(TGM6):c.*31T>C rs2076652 0.44571
NM_198994.3(TGM6):c.1968-116G>A rs2076654 0.44565
NM_198994.3(TGM6):c.1968-11C>T rs2076653 0.44564
NM_198994.3(TGM6):c.1967+119C>T rs7269048 0.44561
NM_198994.3(TGM6):c.1679-140C>T rs2076649 0.44092
NM_198994.3(TGM6):c.1476G>A (p.Lys492=) rs2295077 0.26375
NM_198994.3(TGM6):c.1337-222C>A rs1004269 0.23423
NM_198994.3(TGM6):c.1968-301C>G rs58037765 0.22451
NM_198994.3(TGM6):c.1833+122G>A rs2076648 0.21050
NM_198994.3(TGM6):c.1678+234A>G rs79724730 0.18172
NM_198994.3(TGM6):c.1678+260T>C rs77254585 0.18170
NM_198994.3(TGM6):c.1678+195C>G rs62192893 0.18144
NM_198994.3(TGM6):c.1678+192A>G rs6132624 0.18141
NM_198994.3(TGM6):c.1337-285A>C rs77558422 0.16043
NM_198994.3(TGM6):c.1337-320G>A rs6137956 0.16025
NM_198994.3(TGM6):c.672+268G>A rs8124987 0.14800
NM_198994.3(TGM6):c.1678+211A>G rs6137965 0.14676
NC_000020.11:g.2380859A>G rs9680025 0.13321
NM_198994.3(TGM6):c.789G>A (p.Lys263=) rs6114033 0.13293
NM_198994.3(TGM6):c.181+169G>T rs7266902 0.11360
NM_198994.3(TGM6):c.424+222G>A rs6083054 0.09690
NM_198994.3(TGM6):c.424+204del rs148226181 0.09604
NM_198994.3(TGM6):c.7+173G>A rs16984767 0.08903
NM_198994.3(TGM6):c.543+268T>C rs6036350 0.08268
NM_198994.3(TGM6):c.1093+5G>A rs6137891 0.07885
NM_198994.3(TGM6):c.477C>T (p.Ser159=) rs16984872 0.03978
NM_198994.3(TGM6):c.422C>A (p.Ala141Glu) rs73894929 0.02857
NM_198994.3(TGM6):c.1336+128C>T rs3865537 0.02631
NM_198994.3(TGM6):c.*90del rs142483840 0.02556
NM_198994.3(TGM6):c.989+144G>A rs73569452 0.02165
NM_198994.3(TGM6):c.7+157G>T rs17222895 0.02028
NM_198994.3(TGM6):c.1342C>T (p.Arg448Trp) rs147979536 0.01429
NM_198994.3(TGM6):c.989+11C>T rs6048684 0.01409
NM_198994.3(TGM6):c.543+75C>G rs45449695 0.01064
NM_198994.3(TGM6):c.1103G>A (p.Arg368Gln) rs75122556 0.00731
NM_198994.3(TGM6):c.7+46G>A rs151031920 0.00730
NM_198994.3(TGM6):c.42G>A (p.Ser14=) rs149394698 0.00719
NM_198994.3(TGM6):c.1126G>A (p.Ala376Thr) rs79724097 0.00706
NM_198994.3(TGM6):c.1336+37G>A rs151011799 0.00650
NM_198994.3(TGM6):c.1656C>T (p.Ala552=) rs75601099 0.00634
NM_198994.3(TGM6):c.1657G>A (p.Val553Met) rs74338361 0.00574
NM_198994.3(TGM6):c.-2A>G rs80329336 0.00475
NM_198994.3(TGM6):c.12C>G (p.Ile4Met) rs139796716 0.00438
NM_198994.3(TGM6):c.1235G>A (p.Arg412His) rs142679146 0.00410
NM_198994.3(TGM6):c.1580T>A (p.Val527Glu) rs61729226 0.00370
NM_198994.3(TGM6):c.481A>G (p.Ser161Gly) rs141930579 0.00348
NM_198994.3(TGM6):c.*87C>A rs45544131 0.00240
NM_198994.3(TGM6):c.146A>T (p.Asp49Val) rs12106280 0.00238
NM_198994.3(TGM6):c.171G>A (p.Thr57=) rs12106116 0.00220
NM_198994.3(TGM6):c.181+8G>A rs12106117 0.00210
NM_198994.3(TGM6):c.111G>A (p.Ser37=) rs140110349 0.00196
NM_198994.3(TGM6):c.502G>A (p.Val168Met) rs147494925 0.00175
NM_198994.3(TGM6):c.2052G>A (p.Val684=) rs149369357 0.00165
NM_198994.3(TGM6):c.1523G>A (p.Gly508Asp) rs140719871 0.00149
NM_198994.3(TGM6):c.1995G>C (p.Arg665Ser) rs138807504 0.00136
NM_198994.3(TGM6):c.1216G>A (p.Glu406Lys) rs144338465 0.00135
NM_198994.3(TGM6):c.956G>A (p.Arg319Gln) rs148376598 0.00123
NM_198994.3(TGM6):c.1387G>A (p.Gly463Ser) rs138184667 0.00090
NM_198994.3(TGM6):c.245G>C (p.Gly82Ala) rs144094215 0.00080
NM_198994.3(TGM6):c.751T>C (p.Trp251Arg) rs375649994 0.00073
NM_198994.3(TGM6):c.1094-6G>T rs145554251 0.00071
NM_198994.3(TGM6):c.1025G>A (p.Arg342Gln) rs201645096 0.00069
NM_198994.3(TGM6):c.1301G>A (p.Arg434His) rs150243412 0.00068
NM_198994.3(TGM6):c.1011G>A (p.Glu337=) rs142832802 0.00056
NM_198994.3(TGM6):c.1452C>T (p.Asp484=) rs142748417 0.00046
NM_198994.3(TGM6):c.1705T>A (p.Tyr569Asn) rs142406714 0.00041
NM_198994.3(TGM6):c.380G>A (p.Arg127Gln) rs146964822 0.00038
NM_198994.3(TGM6):c.622G>A (p.Val208Met) rs61743614 0.00037
NM_198994.3(TGM6):c.115A>T (p.Ser39Cys) rs144201778 0.00036
NM_198994.3(TGM6):c.555C>T (p.Asp185=) rs144101264 0.00036
NM_198994.3(TGM6):c.1690C>T (p.Pro564Ser) rs200674917 0.00034
NM_198994.3(TGM6):c.1953A>G (p.Glu651=) rs146629414 0.00034
NM_198994.3(TGM6):c.537C>T (p.Tyr179=) rs140070681 0.00031
NM_198994.3(TGM6):c.38G>A (p.Arg13Gln) rs201694328 0.00027
NM_198994.3(TGM6):c.1171G>A (p.Val391Met) rs116904482 0.00026
NM_198994.3(TGM6):c.1318C>T (p.Leu440Phe) rs199802654 0.00026
NM_198994.3(TGM6):c.1556A>C (p.Asn519Thr) rs374219808 0.00026
NM_198994.3(TGM6):c.1040C>T (p.Pro347Leu) rs183670042 0.00024
NM_198994.3(TGM6):c.658G>T (p.Val220Phe) rs145018385 0.00024
NM_198994.3(TGM6):c.304G>A (p.Ala102Thr) rs150088385 0.00021
NM_198994.3(TGM6):c.940G>A (p.Val314Met) rs202184911 0.00021
NM_198994.3(TGM6):c.31T>G (p.Trp11Gly) rs141178275 0.00018
NM_198994.3(TGM6):c.1250C>T (p.Thr417Met) rs141071237 0.00016
NM_198994.3(TGM6):c.379C>T (p.Arg127Trp) rs148854519 0.00014
NM_198994.3(TGM6):c.632G>A (p.Arg211His) rs192045738 0.00014
NM_198994.3(TGM6):c.2078A>G (p.Asp693Gly) rs377479985 0.00013
NM_198994.3(TGM6):c.1158C>T (p.His386=) rs371763464 0.00011
NM_198994.3(TGM6):c.1920G>A (p.Ala640=) rs768950448 0.00011
NM_198994.3(TGM6):c.1678+8T>C rs369457769 0.00010
NM_198994.3(TGM6):c.1967+9C>A rs780592016 0.00010
NM_198994.3(TGM6):c.743C>T (p.Pro248Leu) rs142013495 0.00010
NM_198994.3(TGM6):c.835G>A (p.Gly279Arg) rs375595045 0.00010
NM_198994.3(TGM6):c.951C>T (p.Phe317=) rs201333931 0.00010
NM_198994.3(TGM6):c.980A>G (p.Asp327Gly) rs387907098 0.00010
NM_198994.3(TGM6):c.52G>A (p.Ala18Thr) rs202247258 0.00009
NM_198994.3(TGM6):c.986T>C (p.Met329Thr) rs111506138 0.00009
NM_198994.3(TGM6):c.990-6T>C rs370391681 0.00009
NM_198994.3(TGM6):c.1170C>T (p.Phe390=) rs765423180 0.00008
NM_198994.3(TGM6):c.1102C>T (p.Arg368Trp) rs201326247 0.00007
NM_198994.3(TGM6):c.1668G>T (p.Gly556=) rs781154109 0.00007
NM_198994.3(TGM6):c.2059G>C (p.Val687Leu) rs374655115 0.00007
NM_198994.3(TGM6):c.834C>T (p.Ala278=) rs371740473 0.00007
NM_198994.3(TGM6):c.1226G>T (p.Ser409Ile) rs752095723 0.00006
NM_198994.3(TGM6):c.1303G>A (p.Val435Met) rs769042038 0.00006
NM_198994.3(TGM6):c.1550T>G (p.Leu517Trp) rs387907097 0.00006
NM_198994.3(TGM6):c.1968C>T (p.Asp656=) rs141258102 0.00006
NM_198994.3(TGM6):c.688G>A (p.Asp230Asn) rs147591485 0.00006
NM_198994.3(TGM6):c.816C>T (p.Gly272=) rs368599004 0.00006
NM_198994.3(TGM6):c.1528G>C (p.Asp510His) rs201964784 0.00005
NM_198994.3(TGM6):c.1596C>T (p.Ser532=) rs762016624 0.00005
NM_198994.3(TGM6):c.2079C>T (p.Asp693=) rs61748828 0.00005
NM_198994.3(TGM6):c.7+9G>A rs370531675 0.00005
NM_198994.3(TGM6):c.883G>A (p.Val295Met) rs200341133 0.00005
NM_198994.3(TGM6):c.1382T>C (p.Leu461Pro) rs984559925 0.00004
NM_198994.3(TGM6):c.1898T>C (p.Ile633Thr) rs746304003 0.00004
NM_198994.3(TGM6):c.543+7A>G rs755777005 0.00004
NM_198994.3(TGM6):c.691C>T (p.Arg231Ter) rs201338900 0.00004
NM_198994.3(TGM6):c.727G>A (p.Gly243Ser) rs202245813 0.00004
NM_198994.3(TGM6):c.755G>A (p.Arg252His) rs147093390 0.00004
NM_198994.3(TGM6):c.763G>A (p.Val255Met) rs751618387 0.00004
NM_198994.3(TGM6):c.992A>G (p.Asn331Ser) rs138323389 0.00004
NM_198994.3(TGM6):c.1089T>C (p.Ser363=) rs762242728 0.00003
NM_198994.3(TGM6):c.1302C>T (p.Arg434=) rs749578418 0.00003
NM_198994.3(TGM6):c.1527C>T (p.His509=) rs748042241 0.00003
NM_198994.3(TGM6):c.2040G>A (p.Arg680=) rs368673232 0.00003
NM_198994.3(TGM6):c.242G>A (p.Arg81Gln) rs767210657 0.00003
NM_198994.3(TGM6):c.621C>A (p.Asp207Glu) rs148696208 0.00003
NM_198994.3(TGM6):c.1234C>T (p.Arg412Cys) rs200536588 0.00002
NM_198994.3(TGM6):c.1997C>T (p.Ala666Val) rs535889149 0.00002
NM_198994.3(TGM6):c.2019C>T (p.Thr673=) rs779951018 0.00002
NM_198994.3(TGM6):c.850+4C>T rs765181893 0.00002
NM_198994.3(TGM6):c.1191C>T (p.Ala397=) rs147554438 0.00001
NM_198994.3(TGM6):c.1278C>A (p.Thr426=) rs751116090 0.00001
NM_198994.3(TGM6):c.1282G>T (p.Ala428Ser) rs556958028 0.00001
NM_198994.3(TGM6):c.1304T>C (p.Val435Ala) rs774694098 0.00001
NM_198994.3(TGM6):c.1371G>A (p.Ala457=) rs187699549 0.00001
NM_198994.3(TGM6):c.1383G>A (p.Leu461=) rs528547934 0.00001
NM_198994.3(TGM6):c.1384T>C (p.Phe462Leu) rs199968743 0.00001
NM_198994.3(TGM6):c.1600G>A (p.Ala534Thr) rs368369881 0.00001
NM_198994.3(TGM6):c.188G>A (p.Arg63Gln) rs1404374284 0.00001
NM_198994.3(TGM6):c.1967+1G>A rs747702159 0.00001
NM_198994.3(TGM6):c.2109C>T (p.Ala703=) rs754897031 0.00001
NM_198994.3(TGM6):c.390C>T (p.Gly130=) rs751704232 0.00001
NM_198994.3(TGM6):c.517C>T (p.Arg173Ter) rs543298933 0.00001
NM_198994.3(TGM6):c.573C>G (p.Leu191=) rs1347908694 0.00001
NM_198994.3(TGM6):c.618C>T (p.Thr206=) rs111415879 0.00001
NM_198994.3(TGM6):c.644T>C (p.Ile215Thr) rs376370167 0.00001
NM_198994.3(TGM6):c.687C>T (p.Asn229=) rs370489062 0.00001
NM_198994.3(TGM6):c.728G>C (p.Gly243Ala) rs751595281 0.00001
NM_198994.3(TGM6):c.733G>A (p.Gly245Ser) rs1288465164 0.00001
NM_198994.3(TGM6):c.787A>G (p.Lys263Glu) rs886056552 0.00001
NM_198994.3(TGM6):c.878G>A (p.Arg293Gln) rs776511523 0.00001
NM_198994.3(TGM6):c.982A>G (p.Ser328Gly) rs1271717343 0.00001
NC_000020.10:g.(?_2361615)_(2413289_?)dup
NC_000020.11:g.2432826T>G rs45610835
NM_198994.2(TGM6):c.425_435del11 rs1222726216
NM_198994.3(TGM6):c.1021G>A (p.Ala341Thr) rs780209863
NM_198994.3(TGM6):c.1047C>A (p.Tyr349Ter)
NM_198994.3(TGM6):c.1059G>C (p.Gln353His)
NM_198994.3(TGM6):c.1063C>A (p.Leu355Met)
NM_198994.3(TGM6):c.1066G>A (p.Asp356Asn)
NM_198994.3(TGM6):c.1071C>T (p.Ala357=)
NM_198994.3(TGM6):c.1076C>T (p.Pro359Leu)
NM_198994.3(TGM6):c.1093+16T>C
NM_198994.3(TGM6):c.1093+1G>A rs1599953368
NM_198994.3(TGM6):c.1093+4C>T
NM_198994.3(TGM6):c.109T>A (p.Ser37Thr) rs2084649513
NM_198994.3(TGM6):c.1108G>A (p.Gly370Ser) rs148889050
NM_198994.3(TGM6):c.1108G>C (p.Gly370Arg)
NM_198994.3(TGM6):c.1133G>A (p.Arg378His) rs756051299
NM_198994.3(TGM6):c.1133G>T (p.Arg378Leu)
NM_198994.3(TGM6):c.1134C>T (p.Arg378=)
NM_198994.3(TGM6):c.1135G>A (p.Glu379Lys)
NM_198994.3(TGM6):c.1147C>T (p.His383Tyr)
NM_198994.3(TGM6):c.1150C>T (p.Leu384=)
NM_198994.3(TGM6):c.1159G>A (p.Asp387Asn)
NM_198994.3(TGM6):c.1171G>C (p.Val391Leu)
NM_198994.3(TGM6):c.1179G>A (p.Ala393=)
NM_198994.3(TGM6):c.1180G>A (p.Glu394Lys) rs2084728678
NM_198994.3(TGM6):c.1183G>T (p.Val395Phe)
NM_198994.3(TGM6):c.1189G>A (p.Ala397Thr)
NM_198994.3(TGM6):c.1192G>A (p.Asp398Asn)
NM_198994.3(TGM6):c.11del (p.Ile4fs) rs1218671148
NM_198994.3(TGM6):c.1203C>T (p.Thr401=)
NM_198994.3(TGM6):c.1214A>G (p.His405Arg)
NM_198994.3(TGM6):c.1228C>T (p.Arg410Trp)
NM_198994.3(TGM6):c.1229G>A (p.Arg410Gln)
NM_198994.3(TGM6):c.123G>A (p.Thr41=)
NM_198994.3(TGM6):c.1242C>T (p.Tyr414=)
NM_198994.3(TGM6):c.1283C>T (p.Ala428Val)
NM_198994.3(TGM6):c.1284G>A (p.Ala428=)
NM_198994.3(TGM6):c.1286_1288dup (p.Val429_Gly430insVal)
NM_198994.3(TGM6):c.1300C>T (p.Arg434Cys)
NM_198994.3(TGM6):c.1307A>T (p.Asp436Val)
NM_198994.3(TGM6):c.1312A>G (p.Thr438Ala)
NM_198994.3(TGM6):c.1322A>G (p.Tyr441Cys)
NM_198994.3(TGM6):c.1331C>G (p.Pro444Arg) rs762711483
NM_198994.3(TGM6):c.1331C>T (p.Pro444Leu)
NM_198994.3(TGM6):c.1336+13T>A
NM_198994.3(TGM6):c.1336+15G>A
NM_198994.3(TGM6):c.1336+16C>T
NM_198994.3(TGM6):c.1337-13T>C
NM_198994.3(TGM6):c.1337-7C>A rs1239255276
NM_198994.3(TGM6):c.1343G>A (p.Arg448Gln)
NM_198994.3(TGM6):c.1352G>C (p.Arg451Thr) rs1265293202
NM_198994.3(TGM6):c.1420C>T (p.Arg474Cys)
NM_198994.3(TGM6):c.1429_1430insCTGTCTCTGGCGTGACGACCTC (p.Gly477fs) rs766605124
NM_198994.3(TGM6):c.1429_1430insTCTCTGGCGTGACGACCTCCTG (p.Gly477fs) rs1181987535
NM_198994.3(TGM6):c.1430_1431delinsTCTCTGGCGTGACGACCTCCTGGA (p.Gly477fs) rs2122409537
NM_198994.3(TGM6):c.1430_1439del (p.Gly477fs) rs760886419
NM_198994.3(TGM6):c.1431G>A (p.Gly477=) rs373549904
NM_198994.3(TGM6):c.1433_1464dup (p.Pro489fs) rs1599961411
NM_198994.3(TGM6):c.1452C>G (p.Asp484Glu)
NM_198994.3(TGM6):c.1455C>T (p.Asp485=)
NM_198994.3(TGM6):c.1456C>T (p.Leu486Phe)
NM_198994.3(TGM6):c.1477C>T (p.Pro493Ser)
NM_198994.3(TGM6):c.1483A>G (p.Ile495Val)
NM_198994.3(TGM6):c.1504C>T (p.Leu502=)
NM_198994.3(TGM6):c.1505T>C (p.Leu502Pro)
NM_198994.3(TGM6):c.1510C>A (p.Pro504Thr)
NM_198994.3(TGM6):c.1515C>T (p.Pro505=) rs750555578
NM_198994.3(TGM6):c.1523G>T (p.Gly508Val)
NM_198994.3(TGM6):c.1523del (p.Gly508fs)
NM_198994.3(TGM6):c.1548C>T (p.Cys516=)
NM_198994.3(TGM6):c.1556A>G (p.Asn519Ser) rs374219808
NM_198994.3(TGM6):c.1567C>T (p.Arg523Trp)
NM_198994.3(TGM6):c.1568G>A (p.Arg523Gln)
NM_198994.3(TGM6):c.1576C>G (p.Arg526Gly)
NM_198994.3(TGM6):c.1576C>T (p.Arg526Trp)
NM_198994.3(TGM6):c.1577G>A (p.Arg526Gln)
NM_198994.3(TGM6):c.1583G>A (p.Arg528Lys)
NM_198994.3(TGM6):c.1592T>A (p.Leu531Gln)
NM_198994.3(TGM6):c.1593G>T (p.Leu531=) rs1236088442
NM_198994.3(TGM6):c.1597G>A (p.Gly533Ser)
NM_198994.3(TGM6):c.1604C>T (p.Thr535Ile)
NM_198994.3(TGM6):c.1617C>T (p.Thr539=)
NM_198994.3(TGM6):c.1618C>T (p.Arg540Cys)
NM_198994.3(TGM6):c.1619G>A (p.Arg540His)
NM_198994.3(TGM6):c.1630G>T (p.Ala544Ser)
NM_198994.3(TGM6):c.1653C>T (p.His551=) rs755072071
NM_198994.3(TGM6):c.1657G>T (p.Val553Leu) rs74338361
NM_198994.3(TGM6):c.1678+11G>A
NM_198994.3(TGM6):c.1678+15G>A
NM_198994.3(TGM6):c.1678+2dup
NM_198994.3(TGM6):c.1678+9A>T
NM_198994.3(TGM6):c.1679-184A>G rs74955193
NM_198994.3(TGM6):c.1679-326T>C rs2076650
NM_198994.3(TGM6):c.170C>T (p.Thr57Met)
NM_198994.3(TGM6):c.1716T>A (p.Tyr572Ter)
NM_198994.3(TGM6):c.171_172delinsAG (p.Met58Val)
NM_198994.3(TGM6):c.1723G>C (p.Asp575His)
NM_198994.3(TGM6):c.1744A>G (p.Ile582Val)
NM_198994.3(TGM6):c.1750T>C (p.Leu584=)
NM_198994.3(TGM6):c.1777G>C (p.Gly593Arg)
NM_198994.3(TGM6):c.1778G>A (p.Gly593Glu)
NM_198994.3(TGM6):c.1784A>C (p.Lys595Thr)
NM_198994.3(TGM6):c.1792G>A (p.Val598Met)
NM_198994.3(TGM6):c.1797G>A (p.Glu599=)
NM_198994.3(TGM6):c.1800G>C (p.Lys600Asn) rs2122442359
NM_198994.3(TGM6):c.181+15C>T
NM_198994.3(TGM6):c.1812A>G (p.Leu604=)
NM_198994.3(TGM6):c.182-11C>T
NM_198994.3(TGM6):c.1833+1G>A
NM_198994.3(TGM6):c.1844_1848del (p.Pro615fs) rs1313336472
NM_198994.3(TGM6):c.1877T>G (p.Val626Gly)
NM_198994.3(TGM6):c.1882G>T (p.Val628Leu) rs1162119013
NM_198994.3(TGM6):c.1916G>C (p.Cys639Ser)
NM_198994.3(TGM6):c.1953_1955dup (p.Gln652dup) rs557817405
NM_198994.3(TGM6):c.1967+20G>T
NM_198994.3(TGM6):c.1967+210_1967+213del rs72068458
NM_198994.3(TGM6):c.1967+2T>C
NM_198994.3(TGM6):c.1968-11_1968-10delinsTT rs386811741
NM_198994.3(TGM6):c.1968C>G (p.Asp656Glu)
NM_198994.3(TGM6):c.1969G>A (p.Val657Met)
NM_198994.3(TGM6):c.1984C>A (p.Pro662Thr)
NM_198994.3(TGM6):c.2041C>A (p.Gln681Lys)
NM_198994.3(TGM6):c.2055C>A (p.Asp685Glu)
NM_198994.3(TGM6):c.2097C>T (p.Ile699=)
NM_198994.3(TGM6):c.2098G>A (p.Val700Ile)
NM_198994.3(TGM6):c.209C>G (p.Thr70Ser)
NM_198994.3(TGM6):c.20C>A (p.Thr7Asn)
NM_198994.3(TGM6):c.2121A>C (p.Ter707Cys)
NM_198994.3(TGM6):c.229T>C (p.Ser77Pro) rs1568656099
NM_198994.3(TGM6):c.230C>T (p.Ser77Leu)
NM_198994.3(TGM6):c.231G>A (p.Ser77=)
NM_198994.3(TGM6):c.234G>A (p.Glu78=)
NM_198994.3(TGM6):c.238G>A (p.Glu80Lys)
NM_198994.3(TGM6):c.240G>A (p.Glu80=)
NM_198994.3(TGM6):c.241C>T (p.Arg81Trp)
NM_198994.3(TGM6):c.242G>T (p.Arg81Leu)
NM_198994.3(TGM6):c.245G>T (p.Gly82Val) rs144094215
NM_198994.3(TGM6):c.268G>C (p.Glu90Gln)
NM_198994.3(TGM6):c.285A>G (p.Lys95=)
NM_198994.3(TGM6):c.289_290del (p.Leu97fs) rs764042831
NM_198994.3(TGM6):c.294C>G (p.Thr98=) rs1292170721
NM_198994.3(TGM6):c.295G>A (p.Val99Ile)
NM_198994.3(TGM6):c.326T>C (p.Ile109Thr)
NM_198994.3(TGM6):c.334T>C (p.Tyr112His)
NM_198994.3(TGM6):c.33G>A (p.Trp11Ter)
NM_198994.3(TGM6):c.364C>A (p.Arg122Ser) rs145445566
NM_198994.3(TGM6):c.365G>A (p.Arg122His)
NM_198994.3(TGM6):c.37C>T (p.Arg13Trp)
NM_198994.3(TGM6):c.404T>A (p.Leu135His)
NM_198994.3(TGM6):c.410A>G (p.Asn137Ser) rs1568656289
NM_198994.3(TGM6):c.419G>A (p.Cys140Tyr)
NM_198994.3(TGM6):c.424+44T>C rs73894931
NM_198994.3(TGM6):c.425-20G>A
NM_198994.3(TGM6):c.425-311del rs10548828
NM_198994.3(TGM6):c.425-312_425-311del rs10548828
NM_198994.3(TGM6):c.427G>A (p.Asp143Asn) rs1568656906
NM_198994.3(TGM6):c.430G>A (p.Asp144Asn) rs143085842
NM_198994.3(TGM6):c.430G>T (p.Asp144Tyr)
NM_198994.3(TGM6):c.446C>G (p.Ser149Ter)
NM_198994.3(TGM6):c.468C>T (p.Tyr156=)
NM_198994.3(TGM6):c.478G>A (p.Asp160Asn)
NM_198994.3(TGM6):c.483C>T (p.Ser161=)
NM_198994.3(TGM6):c.496C>T (p.Arg166Ter)
NM_198994.3(TGM6):c.506A>G (p.Glu169Gly)
NM_198994.3(TGM6):c.514A>C (p.Ile172Leu)
NM_198994.3(TGM6):c.514A>G (p.Ile172Val)
NM_198994.3(TGM6):c.51C>T (p.Gly17=)
NM_198994.3(TGM6):c.51_56delinsTGGGTACT (p.Ala18fs) rs2122345234
NM_198994.3(TGM6):c.520G>T (p.Ala174Ser) rs760984105
NM_198994.3(TGM6):c.524A>G (p.Gln175Arg)
NM_198994.3(TGM6):c.538G>A (p.Gly180Arg)
NM_198994.3(TGM6):c.543+16G>T
NM_198994.3(TGM6):c.543+1G>T
NM_198994.3(TGM6):c.544-17G>A
NM_198994.3(TGM6):c.553G>A (p.Asp185Asn)
NM_198994.3(TGM6):c.558C>T (p.Ile186=)
NM_198994.3(TGM6):c.566T>A (p.Ile189Asn)
NM_198994.3(TGM6):c.591C>T (p.Ser197=)
NM_198994.3(TGM6):c.612A>C (p.Pro204=)
NM_198994.3(TGM6):c.631C>T (p.Arg211Cys)
NM_198994.3(TGM6):c.648C>T (p.Tyr216=)
NM_198994.3(TGM6):c.653C>T (p.Thr218Ile)
NM_198994.3(TGM6):c.673-3C>T
NM_198994.3(TGM6):c.7+1G>T
NM_198994.3(TGM6):c.701T>C (p.Val234Ala)
NM_198994.3(TGM6):c.705A>T (p.Gln235His) rs2122361659
NM_198994.3(TGM6):c.713G>A (p.Trp238Ter)
NM_198994.3(TGM6):c.730G>A (p.Gly244Ser)
NM_198994.3(TGM6):c.754C>T (p.Arg252Cys)
NM_198994.3(TGM6):c.756C>T (p.Arg252=)
NM_198994.3(TGM6):c.757G>A (p.Gly253Ser)
NM_198994.3(TGM6):c.75C>T (p.Tyr25=)
NM_198994.3(TGM6):c.762C>T (p.Ser254=)
NM_198994.3(TGM6):c.767C>T (p.Ala256Val)
NM_198994.3(TGM6):c.78del (p.Cys27fs)
NM_198994.3(TGM6):c.806T>G (p.Val269Gly)
NM_198994.3(TGM6):c.813C>T (p.Tyr271=)
NM_198994.3(TGM6):c.832G>A (p.Ala278Thr)
NM_198994.3(TGM6):c.832_833delinsAA (p.Ala278Asn)
NM_198994.3(TGM6):c.841del (p.Leu281fs) rs1555799865
NM_198994.3(TGM6):c.84T>C (p.Pro28=)
NM_198994.3(TGM6):c.84T>G (p.Pro28=) rs1599947368
NM_198994.3(TGM6):c.850+17G>A
NM_198994.3(TGM6):c.850+20C>T
NM_198994.3(TGM6):c.850+5C>T
NM_198994.3(TGM6):c.851-11C>G
NM_198994.3(TGM6):c.851-19G>A
NM_198994.3(TGM6):c.851-20C>T
NM_198994.3(TGM6):c.851-2A>C rs748484145
NM_198994.3(TGM6):c.851-9G>T
NM_198994.3(TGM6):c.852C>A (p.Val284=)
NM_198994.3(TGM6):c.877C>T (p.Arg293Trp)
NM_198994.3(TGM6):c.897del (p.Ser300fs)
NM_198994.3(TGM6):c.901G>A (p.Ala301Thr)
NM_198994.3(TGM6):c.907G>A (p.Asp303Asn)
NM_198994.3(TGM6):c.921C>T (p.Asn307=)
NM_198994.3(TGM6):c.926G>A (p.Ser309Asn)
NM_198994.3(TGM6):c.939C>T (p.Tyr313=)
NM_198994.3(TGM6):c.945C>G (p.Asp315Glu)
NM_198994.3(TGM6):c.952G>A (p.Gly318Arg)
NM_198994.3(TGM6):c.954G>C (p.Gly318=)
NM_198994.3(TGM6):c.955C>A (p.Arg319=)
NM_198994.3(TGM6):c.955C>T (p.Arg319Trp) rs572902669
NM_198994.3(TGM6):c.974C>A (p.Thr325Lys)
NM_198994.3(TGM6):c.974C>G (p.Thr325Arg)
NM_198994.3(TGM6):c.97C>T (p.Arg33Cys) rs147548610
NM_198994.3(TGM6):c.981C>G (p.Asp327Glu)
NM_198994.3(TGM6):c.989+16A>G
NM_198994.3(TGM6):c.990-13C>G
NM_198994.3(TGM6):c.990-1G>C
NM_198994.3(TGM6):c.990G>C (p.Trp330Cys)
NM_198994.3(TGM6):c.999T>C (p.His333=)

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