ClinVar Miner

List of variants in gene DCHS1 reported as likely benign by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 545
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HGVS dbSNP gnomAD frequency
NM_003737.4(DCHS1):c.4470G>C (p.Ala1490=) rs548880262 0.00588
NM_003737.4(DCHS1):c.3158G>C (p.Trp1053Ser) rs138340204 0.00335
NM_003737.4(DCHS1):c.4072G>A (p.Glu1358Lys) rs184586428 0.00269
NM_003737.4(DCHS1):c.4392C>T (p.Asp1464=) rs374847582 0.00185
NM_003737.4(DCHS1):c.5567C>A (p.Pro1856His) rs111515657 0.00182
NM_003737.4(DCHS1):c.58C>T (p.His20Tyr) rs201684495 0.00163
NM_003737.4(DCHS1):c.4555C>T (p.Pro1519Ser) rs199544459 0.00154
NM_003737.4(DCHS1):c.2975G>A (p.Gly992Glu) rs145749053 0.00144
NM_003737.4(DCHS1):c.1493G>A (p.Arg498Gln) rs150834672 0.00142
NM_003737.4(DCHS1):c.4080G>A (p.Ala1360=) rs372790303 0.00137
NM_003737.4(DCHS1):c.9333G>T (p.Gly3111=) rs576965402 0.00125
NM_003737.4(DCHS1):c.2755C>T (p.Leu919Phe) rs148008642 0.00118
NM_003737.4(DCHS1):c.5503C>T (p.Leu1835Phe) rs148791938 0.00109
NM_003737.4(DCHS1):c.3184C>G (p.Arg1062Gly) rs151278380 0.00102
NM_003737.4(DCHS1):c.8264G>A (p.Arg2755His) rs141243126 0.00099
NM_003737.4(DCHS1):c.9609C>G (p.Pro3203=) rs143630838 0.00098
NM_003737.4(DCHS1):c.7448C>T (p.Thr2483Ile) rs146434035 0.00089
NM_003737.4(DCHS1):c.704G>A (p.Arg235Gln) rs143767864 0.00077
NM_003737.4(DCHS1):c.590C>T (p.Pro197Leu) rs145099391 0.00076
NM_003737.4(DCHS1):c.6495C>T (p.Asn2165=) rs147748847 0.00061
NM_003737.4(DCHS1):c.7192G>T (p.Val2398Phe) rs145939548 0.00060
NM_003737.4(DCHS1):c.1420C>T (p.Arg474Cys) rs117390152 0.00056
NM_003737.4(DCHS1):c.2517A>G (p.Leu839=) rs140006797 0.00051
NM_003737.4(DCHS1):c.3764C>T (p.Thr1255Met) rs147152025 0.00044
NM_003737.4(DCHS1):c.2338A>G (p.Ile780Val) rs145735483 0.00043
NM_003737.4(DCHS1):c.8901G>A (p.Lys2967=) rs140276142 0.00039
NM_003737.4(DCHS1):c.5543C>G (p.Ala1848Gly) rs145373149 0.00038
NM_003737.4(DCHS1):c.9834A>G (p.Ser3278=) rs201436786 0.00038
NM_003737.4(DCHS1):c.6133C>T (p.Arg2045Cys) rs147594191 0.00036
NM_003737.4(DCHS1):c.9269A>T (p.Tyr3090Phe) rs201094018 0.00031
NM_003737.4(DCHS1):c.3686G>A (p.Arg1229His) rs139849372 0.00030
NM_003737.4(DCHS1):c.759G>A (p.Pro253=) rs147414014 0.00029
NM_003737.4(DCHS1):c.186C>T (p.Gly62=) rs766867933 0.00027
NM_003737.4(DCHS1):c.2218+10C>T rs371184418 0.00027
NM_003737.4(DCHS1):c.7410G>T (p.Val2470=) rs149685502 0.00026
NM_003737.4(DCHS1):c.7329C>T (p.Asp2443=) rs139345379 0.00025
NM_003737.4(DCHS1):c.9797C>T (p.Pro3266Leu) rs61735331 0.00024
NM_003737.4(DCHS1):c.7435G>A (p.Ala2479Thr) rs200993350 0.00023
NM_003737.4(DCHS1):c.3773-4C>G rs375153840 0.00020
NM_003737.4(DCHS1):c.2292C>T (p.Asp764=) rs148545496 0.00019
NM_003737.4(DCHS1):c.300C>T (p.Val100=) rs139125506 0.00019
NM_003737.4(DCHS1):c.7538G>A (p.Arg2513His) rs201457110 0.00019
NM_003737.4(DCHS1):c.7846C>G (p.Pro2616Ala) rs150354113 0.00019
NM_003737.4(DCHS1):c.7872A>G (p.Val2624=) rs571764095 0.00019
NM_003737.4(DCHS1):c.8302C>T (p.Arg2768Cys) rs368211314 0.00019
NM_003737.4(DCHS1):c.5688C>T (p.Ala1896=) rs367857980 0.00016
NM_003737.4(DCHS1):c.6467T>A (p.Val2156Glu) rs148323523 0.00016
NM_003737.4(DCHS1):c.5868T>C (p.His1956=) rs752047205 0.00015
NM_003737.4(DCHS1):c.699C>T (p.Pro233=) rs143169401 0.00015
NM_003737.4(DCHS1):c.1103G>A (p.Ser368Asn) rs373185353 0.00014
NM_003737.4(DCHS1):c.3687C>T (p.Arg1229=) rs200997946 0.00014
NM_003737.4(DCHS1):c.5619G>A (p.Leu1873=) rs370648026 0.00014
NM_003737.4(DCHS1):c.6422G>A (p.Arg2141Gln) rs141488333 0.00014
NM_003737.4(DCHS1):c.6722C>T (p.Ala2241Val) rs151157215 0.00014
NM_003737.4(DCHS1):c.1160G>A (p.Arg387His) rs145132459 0.00013
NM_003737.4(DCHS1):c.9295C>T (p.Leu3099=) rs546047071 0.00013
NM_003737.4(DCHS1):c.1458G>A (p.Ala486=) rs150016516 0.00012
NM_003737.4(DCHS1):c.3081A>T (p.Pro1027=) rs550029967 0.00011
NM_003737.4(DCHS1):c.3481+8C>T rs201595915 0.00011
NM_003737.4(DCHS1):c.6710G>A (p.Arg2237His) rs140245002 0.00011
NM_003737.4(DCHS1):c.8800A>G (p.Asn2934Asp) rs539239282 0.00011
NM_003737.4(DCHS1):c.340C>T (p.Arg114Cys) rs200060711 0.00010
NM_003737.4(DCHS1):c.4476C>G (p.Thr1492=) rs1041489241 0.00010
NM_003737.4(DCHS1):c.7646G>A (p.Arg2549Gln) rs535854670 0.00010
NM_003737.4(DCHS1):c.9018T>C (p.Thr3006=) rs765898503 0.00010
NM_003737.4(DCHS1):c.2123G>A (p.Arg708His) rs763176856 0.00009
NM_003737.4(DCHS1):c.2699C>T (p.Thr900Met) rs150889229 0.00009
NM_003737.4(DCHS1):c.3162A>G (p.Leu1054=) rs768393607 0.00009
NM_003737.4(DCHS1):c.7224C>T (p.Asn2408=) rs768441388 0.00009
NM_003737.4(DCHS1):c.6380G>A (p.Arg2127His) rs142577975 0.00008
NM_003737.4(DCHS1):c.6804C>T (p.Ile2268=) rs200715455 0.00008
NM_003737.4(DCHS1):c.8466G>C (p.Val2822=) rs754014876 0.00008
NM_003737.4(DCHS1):c.1855G>A (p.Ala619Thr) rs150309662 0.00007
NM_003737.4(DCHS1):c.6921C>T (p.Pro2307=) rs146255712 0.00007
NM_003737.4(DCHS1):c.8637C>T (p.Ser2879=) rs761026707 0.00007
NM_003737.4(DCHS1):c.1812C>T (p.Asp604=) rs137978102 0.00006
NM_003737.4(DCHS1):c.3927G>A (p.Val1309=) rs200144593 0.00006
NM_003737.4(DCHS1):c.5363G>A (p.Arg1788His) rs753184200 0.00006
NM_003737.4(DCHS1):c.9558C>G (p.Leu3186=) rs372218018 0.00006
NM_003737.4(DCHS1):c.4608C>T (p.Val1536=) rs769958055 0.00005
NM_003737.4(DCHS1):c.5853C>T (p.Arg1951=) rs370161556 0.00005
NM_003737.4(DCHS1):c.2455+19C>A rs1304045487 0.00004
NM_003737.4(DCHS1):c.3414A>G (p.Gly1138=) rs181432898 0.00004
NM_003737.4(DCHS1):c.4819T>C (p.Leu1607=) rs374664957 0.00004
NM_003737.4(DCHS1):c.546A>G (p.Leu182=) rs112143988 0.00004
NM_003737.4(DCHS1):c.5924G>A (p.Ser1975Asn) rs778658992 0.00004
NM_003737.4(DCHS1):c.6242C>T (p.Ala2081Val) rs200072309 0.00004
NM_003737.4(DCHS1):c.6644C>T (p.Pro2215Leu) rs201703764 0.00004
NM_003737.4(DCHS1):c.6822C>T (p.Arg2274=) rs746316145 0.00004
NM_003737.4(DCHS1):c.7257C>T (p.Ala2419=) rs373710080 0.00004
NM_003737.4(DCHS1):c.7452G>A (p.Leu2484=) rs770679962 0.00004
NM_003737.4(DCHS1):c.8316C>T (p.Pro2772=) rs374270843 0.00004
NM_003737.4(DCHS1):c.8891G>A (p.Arg2964His) rs200940363 0.00004
NM_003737.4(DCHS1):c.9744T>C (p.Ala3248=) rs180772321 0.00004
NM_003737.4(DCHS1):c.1047T>G (p.Thr349=) rs1399779430 0.00003
NM_003737.4(DCHS1):c.1492C>T (p.Arg498Trp) rs200084780 0.00003
NM_003737.4(DCHS1):c.3765G>A (p.Thr1255=) rs746349339 0.00003
NM_003737.4(DCHS1):c.5372-17C>T rs773879395 0.00003
NM_003737.4(DCHS1):c.5583G>A (p.Ser1861=) rs769341071 0.00003
NM_003737.4(DCHS1):c.6243G>A (p.Ala2081=) rs376321689 0.00003
NM_003737.4(DCHS1):c.6276C>T (p.Ala2092=) rs202169002 0.00003
NM_003737.4(DCHS1):c.7286-13G>A rs763897571 0.00003
NM_003737.4(DCHS1):c.8370T>C (p.Ala2790=) rs775394503 0.00003
NM_003737.4(DCHS1):c.921C>T (p.Ile307=) rs201398426 0.00003
NM_003737.4(DCHS1):c.933G>C (p.Thr311=) rs770364686 0.00003
NM_003737.4(DCHS1):c.9405C>T (p.Phe3135=) rs766449407 0.00003
NM_003737.4(DCHS1):c.9648G>A (p.Val3216=) rs752482712 0.00003
NM_003737.4(DCHS1):c.9850G>A (p.Ala3284Thr) rs146383176 0.00003
NM_003737.4(DCHS1):c.1695C>T (p.Ser565=) rs769519294 0.00002
NM_003737.4(DCHS1):c.1815G>A (p.Ala605=) rs753510029 0.00002
NM_003737.4(DCHS1):c.2127C>A (p.Ala709=) rs543533148 0.00002
NM_003737.4(DCHS1):c.4051T>C (p.Leu1351=) rs917072302 0.00002
NM_003737.4(DCHS1):c.6828C>G (p.Thr2276=) rs779297780 0.00002
NM_003737.4(DCHS1):c.7932C>T (p.Gly2644=) rs200279703 0.00002
NM_003737.4(DCHS1):c.8943A>G (p.Leu2981=) rs781632057 0.00002
NM_003737.4(DCHS1):c.944A>G (p.Gln315Arg) rs554631257 0.00002
NM_003737.4(DCHS1):c.9459C>T (p.Gly3153=) rs145042783 0.00002
NM_003737.4(DCHS1):c.9798C>T (p.Pro3266=) rs774638070 0.00002
NM_003737.4(DCHS1):c.9870A>G (p.Pro3290=) rs751883574 0.00002
NM_003737.4(DCHS1):c.9879C>T (p.Asp3293=) rs965617510 0.00002
NM_003737.4(DCHS1):c.177A>G (p.Thr59=) rs774522684 0.00001
NM_003737.4(DCHS1):c.1873G>A (p.Gly625Arg) rs770172402 0.00001
NM_003737.4(DCHS1):c.192C>A (p.Ile64=) rs777922001 0.00001
NM_003737.4(DCHS1):c.2280C>T (p.Ile760=) rs780552863 0.00001
NM_003737.4(DCHS1):c.2484A>C (p.Leu828=) rs781043036 0.00001
NM_003737.4(DCHS1):c.2691T>G (p.Pro897=) rs768699475 0.00001
NM_003737.4(DCHS1):c.3132C>G (p.Pro1044=) rs369396400 0.00001
NM_003737.4(DCHS1):c.3423C>G (p.Thr1141=) rs1278549108 0.00001
NM_003737.4(DCHS1):c.3930+9G>A rs1333796692 0.00001
NM_003737.4(DCHS1):c.4359A>G (p.Ala1453=) rs775699777 0.00001
NM_003737.4(DCHS1):c.4369A>G (p.Thr1457Ala) rs759645411 0.00001
NM_003737.4(DCHS1):c.4380G>A (p.Ala1460=) rs1589955946 0.00001
NM_003737.4(DCHS1):c.4835G>A (p.Arg1612Gln) rs538937774 0.00001
NM_003737.4(DCHS1):c.5036-6C>T rs368703927 0.00001
NM_003737.4(DCHS1):c.5685C>T (p.Gly1895=) rs762569371 0.00001
NM_003737.4(DCHS1):c.5787G>A (p.Val1929=) rs1231832796 0.00001
NM_003737.4(DCHS1):c.5852G>A (p.Arg1951His) rs528656024 0.00001
NM_003737.4(DCHS1):c.6255T>A (p.Thr2085=) rs374937999 0.00001
NM_003737.4(DCHS1):c.6498C>T (p.Asp2166=) rs747968387 0.00001
NM_003737.4(DCHS1):c.6577-4C>T rs1439297886 0.00001
NM_003737.4(DCHS1):c.6876C>T (p.Gly2292=) rs980990604 0.00001
NM_003737.4(DCHS1):c.6993C>G (p.Val2331=) rs758556187 0.00001
NM_003737.4(DCHS1):c.726C>T (p.Asp242=) rs199809561 0.00001
NM_003737.4(DCHS1):c.7623G>A (p.Gly2541=) rs111242710 0.00001
NM_003737.4(DCHS1):c.7902T>C (p.His2634=) rs757788133 0.00001
NM_003737.4(DCHS1):c.828G>A (p.Gln276=) rs761729388 0.00001
NM_003737.4(DCHS1):c.8706G>A (p.Val2902=) rs764853502 0.00001
NM_003737.4(DCHS1):c.9441G>A (p.Leu3147=) rs755085535 0.00001
NM_003737.4(DCHS1):c.973C>T (p.Arg325Trp) rs758453554 0.00001
NM_003737.4(DCHS1):c.978G>A (p.Arg326=) rs778785311 0.00001
NM_003737.4(DCHS1):c.1032C>T (p.Gly344=)
NM_003737.4(DCHS1):c.1071C>T (p.Asp357=) rs377714578
NM_003737.4(DCHS1):c.1101C>T (p.Leu367=)
NM_003737.4(DCHS1):c.1134C>T (p.Ala378=)
NM_003737.4(DCHS1):c.1152C>T (p.Leu384=)
NM_003737.4(DCHS1):c.1257C>T (p.Ser419=)
NM_003737.4(DCHS1):c.1260C>T (p.Val420=)
NM_003737.4(DCHS1):c.1347A>G (p.Ser449=)
NM_003737.4(DCHS1):c.1383C>T (p.His461=)
NM_003737.4(DCHS1):c.139C>T (p.Leu47=)
NM_003737.4(DCHS1):c.1419C>T (p.Asp473=) rs1361102387
NM_003737.4(DCHS1):c.1467C>A (p.Gly489=)
NM_003737.4(DCHS1):c.1476A>G (p.Val492=)
NM_003737.4(DCHS1):c.1482G>A (p.Arg494=)
NM_003737.4(DCHS1):c.1494G>T (p.Arg498=)
NM_003737.4(DCHS1):c.1512C>T (p.Thr504=) rs771737919
NM_003737.4(DCHS1):c.1527T>A (p.Thr509=)
NM_003737.4(DCHS1):c.1605A>T (p.Ser535=)
NM_003737.4(DCHS1):c.1606C>T (p.Leu536=)
NM_003737.4(DCHS1):c.1629G>A (p.Gln543=)
NM_003737.4(DCHS1):c.1656T>C (p.Asp552=)
NM_003737.4(DCHS1):c.1665G>T (p.Leu555=)
NM_003737.4(DCHS1):c.1671T>C (p.Pro557=)
NM_003737.4(DCHS1):c.1677C>T (p.Ala559=) rs766148464
NM_003737.4(DCHS1):c.171G>A (p.Ala57=)
NM_003737.4(DCHS1):c.1728C>T (p.Pro576=)
NM_003737.4(DCHS1):c.1734C>T (p.Phe578=)
NM_003737.4(DCHS1):c.1749C>T (p.Tyr583=)
NM_003737.4(DCHS1):c.1755C>T (p.Ala585=) rs1856039145
NM_003737.4(DCHS1):c.1758A>G (p.Ser586=) rs1304143940
NM_003737.4(DCHS1):c.1797+11C>T
NM_003737.4(DCHS1):c.1797+16A>C
NM_003737.4(DCHS1):c.1833C>T (p.Gly611=)
NM_003737.4(DCHS1):c.1848C>T (p.Ser616=)
NM_003737.4(DCHS1):c.1872C>T (p.Ser624=)
NM_003737.4(DCHS1):c.1878T>A (p.Ser626=)
NM_003737.4(DCHS1):c.1905C>T (p.Ser635=)
NM_003737.4(DCHS1):c.1930C>T (p.Leu644=)
NM_003737.4(DCHS1):c.1935C>T (p.Asp645=)
NM_003737.4(DCHS1):c.1936C>G (p.Arg646Gly) rs199875933
NM_003737.4(DCHS1):c.1950C>T (p.Pro650=)
NM_003737.4(DCHS1):c.1954A>G (p.Ser652Gly)
NM_003737.4(DCHS1):c.1986+9G>A rs1247948746
NM_003737.4(DCHS1):c.1987-10G>A
NM_003737.4(DCHS1):c.1987-5A>G rs1855952820
NM_003737.4(DCHS1):c.1992C>T (p.Gly664=)
NM_003737.4(DCHS1):c.201G>A (p.Gly67=)
NM_003737.4(DCHS1):c.2025G>A (p.Leu675=) rs1471760618
NM_003737.4(DCHS1):c.2043C>T (p.Asn681=)
NM_003737.4(DCHS1):c.2067G>A (p.Glu689=) rs2134634459
NM_003737.4(DCHS1):c.207G>A (p.Pro69=)
NM_003737.4(DCHS1):c.2088C>T (p.Ala696=)
NM_003737.4(DCHS1):c.2115G>A (p.Leu705=)
NM_003737.4(DCHS1):c.215C>T (p.Thr72Met)
NM_003737.4(DCHS1):c.2218+20C>T
NM_003737.4(DCHS1):c.2219-5C>T
NM_003737.4(DCHS1):c.2343G>T (p.Val781=) rs773947270
NM_003737.4(DCHS1):c.2418C>T (p.Gly806=)
NM_003737.4(DCHS1):c.2455+9T>G
NM_003737.4(DCHS1):c.2456-17T>C rs2134632389
NM_003737.4(DCHS1):c.2456-20C>A
NM_003737.4(DCHS1):c.2460C>T (p.Arg820=)
NM_003737.4(DCHS1):c.2505A>G (p.Gly835=)
NM_003737.4(DCHS1):c.2556G>A (p.Leu852=)
NM_003737.4(DCHS1):c.2581T>C (p.Leu861=)
NM_003737.4(DCHS1):c.2595G>A (p.Val865=) rs541336434
NM_003737.4(DCHS1):c.2625C>T (p.Phe875=)
NM_003737.4(DCHS1):c.2730G>A (p.Gly910=)
NM_003737.4(DCHS1):c.2739C>T (p.Ile913=)
NM_003737.4(DCHS1):c.2763C>T (p.Pro921=)
NM_003737.4(DCHS1):c.282T>C (p.Ile94=)
NM_003737.4(DCHS1):c.285C>T (p.Asp95=)
NM_003737.4(DCHS1):c.2877A>G (p.Ser959=)
NM_003737.4(DCHS1):c.2883G>C (p.Gly961=) rs2134631175
NM_003737.4(DCHS1):c.2896C>T (p.Leu966=)
NM_003737.4(DCHS1):c.2910C>G (p.Ala970=)
NM_003737.4(DCHS1):c.2947C>A (p.Arg983=)
NM_003737.4(DCHS1):c.2982T>C (p.Arg994=)
NM_003737.4(DCHS1):c.2986C>T (p.Leu996=)
NM_003737.4(DCHS1):c.2988G>C (p.Leu996=)
NM_003737.4(DCHS1):c.3058C>T (p.Leu1020=)
NM_003737.4(DCHS1):c.3078A>C (p.Ala1026=)
NM_003737.4(DCHS1):c.3090C>T (p.Gly1030=)
NM_003737.4(DCHS1):c.315T>C (p.Arg105=)
NM_003737.4(DCHS1):c.3169C>A (p.Arg1057=)
NM_003737.4(DCHS1):c.3183C>T (p.Asp1061=)
NM_003737.4(DCHS1):c.3192C>T (p.Ala1064=)
NM_003737.4(DCHS1):c.3267C>A (p.Ala1089=)
NM_003737.4(DCHS1):c.3270C>T (p.Thr1090=)
NM_003737.4(DCHS1):c.3285C>A (p.Ile1095=) rs545225718
NM_003737.4(DCHS1):c.3288C>T (p.Leu1096=)
NM_003737.4(DCHS1):c.3309C>T (p.Pro1103=)
NM_003737.4(DCHS1):c.3321G>A (p.Glu1107=)
NM_003737.4(DCHS1):c.336G>C (p.Arg112=)
NM_003737.4(DCHS1):c.3399C>T (p.Asp1133=)
NM_003737.4(DCHS1):c.33C>T (p.Cys11=)
NM_003737.4(DCHS1):c.3450C>T (p.Asp1150=)
NM_003737.4(DCHS1):c.3459C>T (p.Ala1153=)
NM_003737.4(DCHS1):c.3481+13A>C
NM_003737.4(DCHS1):c.3481+19A>G
NM_003737.4(DCHS1):c.3481+9A>G
NM_003737.4(DCHS1):c.3482-18G>A
NM_003737.4(DCHS1):c.3482-19C>T
NM_003737.4(DCHS1):c.3482-5C>G
NM_003737.4(DCHS1):c.3482-7C>T rs1855912833
NM_003737.4(DCHS1):c.348C>T (p.Arg116=)
NM_003737.4(DCHS1):c.3510C>T (p.Asp1170=)
NM_003737.4(DCHS1):c.3552G>A (p.Gln1184=)
NM_003737.4(DCHS1):c.3567A>G (p.Pro1189=)
NM_003737.4(DCHS1):c.3594T>C (p.His1198=)
NM_003737.4(DCHS1):c.3615C>T (p.Asn1205=)
NM_003737.4(DCHS1):c.3621C>T (p.Asn1207=) rs1488521279
NM_003737.4(DCHS1):c.3630G>A (p.Thr1210=)
NM_003737.4(DCHS1):c.3663C>G (p.Gly1221=) rs751966019
NM_003737.4(DCHS1):c.3675+17G>A
NM_003737.4(DCHS1):c.3675+18A>G
NM_003737.4(DCHS1):c.3676-10G>C
NM_003737.4(DCHS1):c.3676-19del
NM_003737.4(DCHS1):c.3678A>G (p.Val1226=)
NM_003737.4(DCHS1):c.3723G>A (p.Ala1241=)
NM_003737.4(DCHS1):c.3738G>A (p.Glu1246=)
NM_003737.4(DCHS1):c.3741G>A (p.Gly1247=)
NM_003737.4(DCHS1):c.375C>T (p.Ala125=)
NM_003737.4(DCHS1):c.3772+9G>A
NM_003737.4(DCHS1):c.3773-12G>A
NM_003737.4(DCHS1):c.3773-5C>T
NM_003737.4(DCHS1):c.378C>T (p.Thr126=)
NM_003737.4(DCHS1):c.3840C>T (p.Ile1280=) rs766431564
NM_003737.4(DCHS1):c.3885C>T (p.Asp1295=)
NM_003737.4(DCHS1):c.3901C>A (p.Arg1301=)
NM_003737.4(DCHS1):c.3931-14C>A
NM_003737.4(DCHS1):c.3931-15C>G
NM_003737.4(DCHS1):c.3931-15C>T
NM_003737.4(DCHS1):c.3931-7A>G
NM_003737.4(DCHS1):c.3948C>T (p.Arg1316=)
NM_003737.4(DCHS1):c.3972C>T (p.Leu1324=)
NM_003737.4(DCHS1):c.3984C>T (p.Asp1328=) rs2134627322
NM_003737.4(DCHS1):c.3987A>G (p.Pro1329=)
NM_003737.4(DCHS1):c.3999G>C (p.Val1333=)
NM_003737.4(DCHS1):c.4005C>A (p.Val1335=)
NM_003737.4(DCHS1):c.4026T>C (p.Ala1342=)
NM_003737.4(DCHS1):c.4089T>G (p.Gly1363=)
NM_003737.4(DCHS1):c.4119C>T (p.Ala1373=)
NM_003737.4(DCHS1):c.4137C>T (p.Phe1379=)
NM_003737.4(DCHS1):c.4152C>T (p.Ala1384=)
NM_003737.4(DCHS1):c.4155A>C (p.Ser1385=)
NM_003737.4(DCHS1):c.4218G>C (p.Thr1406=)
NM_003737.4(DCHS1):c.4258C>T (p.Leu1420=) rs2134626532
NM_003737.4(DCHS1):c.4266G>A (p.Val1422=)
NM_003737.4(DCHS1):c.4338A>G (p.Pro1446=)
NM_003737.4(DCHS1):c.4395C>T (p.Gly1465=)
NM_003737.4(DCHS1):c.4398C>G (p.Pro1466=) rs773078078
NM_003737.4(DCHS1):c.4398C>T (p.Pro1466=)
NM_003737.4(DCHS1):c.4404C>T (p.Pro1468=)
NM_003737.4(DCHS1):c.4446C>G (p.Pro1482=)
NM_003737.4(DCHS1):c.4473C>T (p.Arg1491=) rs904154002
NM_003737.4(DCHS1):c.4476C>A (p.Thr1492=)
NM_003737.4(DCHS1):c.4530G>T (p.Leu1510=) rs1589955856
NM_003737.4(DCHS1):c.4548C>A (p.Thr1516=)
NM_003737.4(DCHS1):c.4548C>T (p.Thr1516=)
NM_003737.4(DCHS1):c.4557C>T (p.Pro1519=)
NM_003737.4(DCHS1):c.459T>C (p.Pro153=)
NM_003737.4(DCHS1):c.4638C>T (p.Phe1546=)
NM_003737.4(DCHS1):c.4665A>G (p.Pro1555=)
NM_003737.4(DCHS1):c.4668G>A (p.Glu1556=)
NM_003737.4(DCHS1):c.4686C>G (p.Pro1562=) rs1589955745
NM_003737.4(DCHS1):c.4687G>C (p.Ala1563Pro) rs781737138
NM_003737.4(DCHS1):c.4701G>A (p.Val1567=)
NM_003737.4(DCHS1):c.4708C>A (p.Arg1570=)
NM_003737.4(DCHS1):c.4713C>T (p.Asp1571=) rs2134625017
NM_003737.4(DCHS1):c.4731T>C (p.Ala1577=)
NM_003737.4(DCHS1):c.4747C>A (p.Arg1583=)
NM_003737.4(DCHS1):c.4749G>T (p.Arg1583=)
NM_003737.4(DCHS1):c.4752G>A (p.Leu1584=)
NM_003737.4(DCHS1):c.4795+11G>C
NM_003737.4(DCHS1):c.4795+15T>C
NM_003737.4(DCHS1):c.4796-10G>A rs1324309937
NM_003737.4(DCHS1):c.4796-5C>T
NM_003737.4(DCHS1):c.4812G>A (p.Val1604=)
NM_003737.4(DCHS1):c.4818G>C (p.Pro1606=)
NM_003737.4(DCHS1):c.4833A>G (p.Gln1611=) rs201414753
NM_003737.4(DCHS1):c.4851G>T (p.Leu1617=)
NM_003737.4(DCHS1):c.486C>T (p.Tyr162=)
NM_003737.4(DCHS1):c.4872C>T (p.His1624=)
NM_003737.4(DCHS1):c.490C>T (p.Leu164=)
NM_003737.4(DCHS1):c.4938G>C (p.Ala1646=)
NM_003737.4(DCHS1):c.4959G>A (p.Glu1653=)
NM_003737.4(DCHS1):c.4968C>T (p.Val1656=)
NM_003737.4(DCHS1):c.4998A>G (p.Thr1666=)
NM_003737.4(DCHS1):c.5019A>C (p.Ala1673=)
NM_003737.4(DCHS1):c.5028C>G (p.Pro1676=)
NM_003737.4(DCHS1):c.5028C>T (p.Pro1676=)
NM_003737.4(DCHS1):c.5035+12G>C
NM_003737.4(DCHS1):c.5035+15G>T
NM_003737.4(DCHS1):c.5035+16G>A
NM_003737.4(DCHS1):c.5036-8C>A
NM_003737.4(DCHS1):c.5046G>A (p.Gly1682=)
NM_003737.4(DCHS1):c.5073C>T (p.Ser1691=)
NM_003737.4(DCHS1):c.5100T>G (p.Thr1700=)
NM_003737.4(DCHS1):c.5115T>A (p.Thr1705=)
NM_003737.4(DCHS1):c.5115T>C (p.Thr1705=)
NM_003737.4(DCHS1):c.5121G>A (p.Arg1707=)
NM_003737.4(DCHS1):c.5133A>G (p.Arg1711=)
NM_003737.4(DCHS1):c.5145G>A (p.Glu1715=)
NM_003737.4(DCHS1):c.5162-20T>C
NM_003737.4(DCHS1):c.5162-8C>G
NM_003737.4(DCHS1):c.5169C>T (p.Ala1723=)
NM_003737.4(DCHS1):c.5202T>C (p.His1734=)
NM_003737.4(DCHS1):c.5205C>G (p.Val1735=)
NM_003737.4(DCHS1):c.5241T>C (p.His1747=)
NM_003737.4(DCHS1):c.5250C>A (p.Thr1750=)
NM_003737.4(DCHS1):c.5250C>T (p.Thr1750=)
NM_003737.4(DCHS1):c.5295C>G (p.Asp1765Glu)
NM_003737.4(DCHS1):c.5313G>A (p.Met1771Ile)
NM_003737.4(DCHS1):c.5331A>G (p.Pro1777=)
NM_003737.4(DCHS1):c.5371+13C>T
NM_003737.4(DCHS1):c.5372-8C>T
NM_003737.4(DCHS1):c.542C>T (p.Ala181Val)
NM_003737.4(DCHS1):c.543G>C (p.Ala181=)
NM_003737.4(DCHS1):c.5482C>A (p.Arg1828=) rs574706163
NM_003737.4(DCHS1):c.5595G>A (p.Pro1865=)
NM_003737.4(DCHS1):c.5616C>T (p.Thr1872=)
NM_003737.4(DCHS1):c.5625G>A (p.Leu1875=)
NM_003737.4(DCHS1):c.564A>G (p.Gly188=) rs2134645692
NM_003737.4(DCHS1):c.5673C>T (p.Thr1891=)
NM_003737.4(DCHS1):c.5697A>C (p.Ala1899=)
NM_003737.4(DCHS1):c.5715G>A (p.Glu1905=)
NM_003737.4(DCHS1):c.5735G>A (p.Arg1912His)
NM_003737.4(DCHS1):c.5772C>T (p.Ser1924=) rs1166075049
NM_003737.4(DCHS1):c.5781T>C (p.Phe1927=)
NM_003737.4(DCHS1):c.5793A>G (p.Ala1931=)
NM_003737.4(DCHS1):c.5832G>A (p.Val1944=) rs2134619473
NM_003737.4(DCHS1):c.5838C>T (p.Val1946=)
NM_003737.4(DCHS1):c.5847G>A (p.Thr1949=)
NM_003737.4(DCHS1):c.5859C>T (p.Val1953=)
NM_003737.4(DCHS1):c.5883C>T (p.Pro1961=)
NM_003737.4(DCHS1):c.5913C>T (p.Arg1971=)
NM_003737.4(DCHS1):c.591C>T (p.Pro197=)
NM_003737.4(DCHS1):c.5940C>T (p.Thr1980=)
NM_003737.4(DCHS1):c.5943G>A (p.Leu1981=)
NM_003737.4(DCHS1):c.5955A>C (p.Thr1985=)
NM_003737.4(DCHS1):c.5971C>A (p.Arg1991Ser) rs148935165
NM_003737.4(DCHS1):c.5972G>A (p.Arg1991His)
NM_003737.4(DCHS1):c.6063C>T (p.Arg2021=)
NM_003737.4(DCHS1):c.6183A>G (p.Glu2061=) rs1855813699
NM_003737.4(DCHS1):c.6216C>T (p.Ser2072=)
NM_003737.4(DCHS1):c.6228G>A (p.Thr2076=)
NM_003737.4(DCHS1):c.6250+13C>T
NM_003737.4(DCHS1):c.6251-13G>A
NM_003737.4(DCHS1):c.6251-14C>T
NM_003737.4(DCHS1):c.6251-19A>C
NM_003737.4(DCHS1):c.6300A>T (p.Gly2100=) rs2134618286
NM_003737.4(DCHS1):c.6330T>C (p.Asn2110=)
NM_003737.4(DCHS1):c.633G>A (p.Gly211=) rs2134645498
NM_003737.4(DCHS1):c.6364+13A>G
NM_003737.4(DCHS1):c.6365-5C>A
NM_003737.4(DCHS1):c.6365-7C>T
NM_003737.4(DCHS1):c.6393G>A (p.Gly2131=)
NM_003737.4(DCHS1):c.6396A>G (p.Leu2132=)
NM_003737.4(DCHS1):c.63C>T (p.Leu21=)
NM_003737.4(DCHS1):c.6459C>G (p.Ala2153=)
NM_003737.4(DCHS1):c.6477G>C (p.Leu2159=)
NM_003737.4(DCHS1):c.6573G>A (p.Leu2191=)
NM_003737.4(DCHS1):c.6576+8G>A
NM_003737.4(DCHS1):c.6577-10C>T
NM_003737.4(DCHS1):c.6577-12T>C
NM_003737.4(DCHS1):c.6585G>A (p.Ala2195=)
NM_003737.4(DCHS1):c.6624C>T (p.Tyr2208=)
NM_003737.4(DCHS1):c.6663C>T (p.His2221=)
NM_003737.4(DCHS1):c.6699C>G (p.Ala2233=)
NM_003737.4(DCHS1):c.669A>G (p.Leu223=)
NM_003737.4(DCHS1):c.6717C>T (p.Ile2239=)
NM_003737.4(DCHS1):c.6731+11G>A
NM_003737.4(DCHS1):c.6731+17T>C
NM_003737.4(DCHS1):c.6731+19G>A
NM_003737.4(DCHS1):c.6732-4C>T
NM_003737.4(DCHS1):c.6747C>T (p.Ala2249=)
NM_003737.4(DCHS1):c.6750A>G (p.Thr2250=)
NM_003737.4(DCHS1):c.6862+11G>A
NM_003737.4(DCHS1):c.6863-12C>A
NM_003737.4(DCHS1):c.6867G>A (p.Ala2289=)
NM_003737.4(DCHS1):c.6871T>C (p.Leu2291=)
NM_003737.4(DCHS1):c.690T>C (p.Gly230=)
NM_003737.4(DCHS1):c.6951G>A (p.Gly2317=)
NM_003737.4(DCHS1):c.6952C>T (p.Pro2318Ser)
NM_003737.4(DCHS1):c.696A>G (p.Ser232=)
NM_003737.4(DCHS1):c.7062G>T (p.Gly2354=)
NM_003737.4(DCHS1):c.7136G>T (p.Ser2379Ile)
NM_003737.4(DCHS1):c.7147-7A>C
NM_003737.4(DCHS1):c.7147-8C>T
NM_003737.4(DCHS1):c.7176C>G (p.Gly2392=)
NM_003737.4(DCHS1):c.7191C>T (p.Ser2397=)
NM_003737.4(DCHS1):c.7207C>T (p.Arg2403Trp) rs141901540
NM_003737.4(DCHS1):c.7275C>T (p.Asp2425=)
NM_003737.4(DCHS1):c.7281C>T (p.Asn2427=)
NM_003737.4(DCHS1):c.7285+7C>T
NM_003737.4(DCHS1):c.733C>T (p.Leu245=)
NM_003737.4(DCHS1):c.7384C>T (p.Arg2462Trp)
NM_003737.4(DCHS1):c.7404G>A (p.Val2468=)
NM_003737.4(DCHS1):c.7407C>T (p.His2469=)
NM_003737.4(DCHS1):c.7413G>A (p.Gln2471=)
NM_003737.4(DCHS1):c.7428C>T (p.Asn2476=)
NM_003737.4(DCHS1):c.7434C>T (p.His2478=)
NM_003737.4(DCHS1):c.7440G>A (p.Pro2480=)
NM_003737.4(DCHS1):c.7440G>C (p.Pro2480=)
NM_003737.4(DCHS1):c.7483C>T (p.Leu2495=)
NM_003737.4(DCHS1):c.7485G>T (p.Leu2495=)
NM_003737.4(DCHS1):c.7500T>C (p.Thr2500=) rs1050764556
NM_003737.4(DCHS1):c.7500T>G (p.Thr2500=)
NM_003737.4(DCHS1):c.753T>C (p.His251=)
NM_003737.4(DCHS1):c.7606A>C (p.Arg2536=) rs1261999118
NM_003737.4(DCHS1):c.7609C>T (p.Leu2537=)
NM_003737.4(DCHS1):c.7658G>A (p.Cys2553Tyr)
NM_003737.4(DCHS1):c.783T>C (p.His261=)
NM_003737.4(DCHS1):c.7884C>T (p.Asp2628=)
NM_003737.4(DCHS1):c.7913G>A (p.Arg2638His)
NM_003737.4(DCHS1):c.7923C>T (p.Val2641=)
NM_003737.4(DCHS1):c.7988A>G (p.His2663Arg)
NM_003737.4(DCHS1):c.7995G>A (p.Leu2665=)
NM_003737.4(DCHS1):c.8046T>G (p.Pro2682=)
NM_003737.4(DCHS1):c.8085G>A (p.Glu2695=)
NM_003737.4(DCHS1):c.8100T>C (p.Asn2700=)
NM_003737.4(DCHS1):c.8106T>C (p.His2702=) rs72911012
NM_003737.4(DCHS1):c.8119C>T (p.Pro2707Ser)
NM_003737.4(DCHS1):c.8121A>G (p.Pro2707=)
NM_003737.4(DCHS1):c.8133C>T (p.Leu2711=)
NM_003737.4(DCHS1):c.8148C>T (p.Ala2716=)
NM_003737.4(DCHS1):c.8151G>A (p.Glu2717=)
NM_003737.4(DCHS1):c.8186A>T (p.His2729Leu) rs148148252
NM_003737.4(DCHS1):c.8223C>T (p.Leu2741=)
NM_003737.4(DCHS1):c.8233C>T (p.Leu2745=)
NM_003737.4(DCHS1):c.8241G>A (p.Glu2747=)
NM_003737.4(DCHS1):c.8283C>T (p.Asn2761=)
NM_003737.4(DCHS1):c.8304T>C (p.Arg2768=)
NM_003737.4(DCHS1):c.8319T>C (p.Phe2773=) rs748698718
NM_003737.4(DCHS1):c.8322C>T (p.Asp2774=)
NM_003737.4(DCHS1):c.8328G>A (p.Glu2776=)
NM_003737.4(DCHS1):c.8382A>G (p.Ser2794=)
NM_003737.4(DCHS1):c.8400G>A (p.Ser2800=)
NM_003737.4(DCHS1):c.8460C>T (p.Phe2820=)
NM_003737.4(DCHS1):c.846C>T (p.Ala282=)
NM_003737.4(DCHS1):c.8481G>A (p.Arg2827=)
NM_003737.4(DCHS1):c.8511C>T (p.Ala2837=)
NM_003737.4(DCHS1):c.8601C>G (p.Ala2867=)
NM_003737.4(DCHS1):c.8607C>T (p.Tyr2869=)
NM_003737.4(DCHS1):c.8611C>T (p.Arg2871Trp)
NM_003737.4(DCHS1):c.8639G>C (p.Gly2880Ala)
NM_003737.4(DCHS1):c.8658T>C (p.Gly2886=)
NM_003737.4(DCHS1):c.8700G>A (p.Leu2900=)
NM_003737.4(DCHS1):c.8703G>A (p.Glu2901=)
NM_003737.4(DCHS1):c.8745A>C (p.Thr2915=)
NM_003737.4(DCHS1):c.8757C>T (p.Thr2919=)
NM_003737.4(DCHS1):c.8769C>T (p.Thr2923=)
NM_003737.4(DCHS1):c.8775C>T (p.Thr2925=)
NM_003737.4(DCHS1):c.8793T>C (p.Pro2931=) rs2134608780
NM_003737.4(DCHS1):c.87G>A (p.Leu29=)
NM_003737.4(DCHS1):c.8820C>T (p.Ala2940=)
NM_003737.4(DCHS1):c.8850G>A (p.Val2950=)
NM_003737.4(DCHS1):c.8895C>T (p.Ser2965=)
NM_003737.4(DCHS1):c.88C>T (p.Leu30=)
NM_003737.4(DCHS1):c.8940C>G (p.Pro2980=)
NM_003737.4(DCHS1):c.8952C>T (p.Asp2984=)
NM_003737.4(DCHS1):c.8972G>A (p.Arg2991Gln) rs200152314
NM_003737.4(DCHS1):c.8973G>A (p.Arg2991=)
NM_003737.4(DCHS1):c.897C>T (p.Ser299=)
NM_003737.4(DCHS1):c.8994C>T (p.Pro2998=)
NM_003737.4(DCHS1):c.8997T>A (p.Ser2999=)
NM_003737.4(DCHS1):c.9009T>C (p.Tyr3003=)
NM_003737.4(DCHS1):c.9024C>T (p.Pro3008=)
NM_003737.4(DCHS1):c.9039A>G (p.Pro3013=)
NM_003737.4(DCHS1):c.9051A>G (p.Gly3017=)
NM_003737.4(DCHS1):c.9093T>C (p.Ser3031=)
NM_003737.4(DCHS1):c.924C>T (p.Asp308=)
NM_003737.4(DCHS1):c.9261C>T (p.Asp3087=)
NM_003737.4(DCHS1):c.9294G>C (p.Leu3098=)
NM_003737.4(DCHS1):c.9363G>T (p.Gly3121=) rs1855708847
NM_003737.4(DCHS1):c.9408A>G (p.Pro3136=)
NM_003737.4(DCHS1):c.9420G>A (p.Lys3140=) rs2134606797
NM_003737.4(DCHS1):c.9477C>T (p.Gly3159=)
NM_003737.4(DCHS1):c.9561G>A (p.Lys3187=)
NM_003737.4(DCHS1):c.9591C>T (p.Pro3197=)
NM_003737.4(DCHS1):c.9621C>T (p.Ala3207=)
NM_003737.4(DCHS1):c.9639C>G (p.Ala3213=)
NM_003737.4(DCHS1):c.9642G>A (p.Lys3214=)
NM_003737.4(DCHS1):c.9705C>T (p.His3235=)
NM_003737.4(DCHS1):c.9711C>T (p.Ser3237=)
NM_003737.4(DCHS1):c.9735G>C (p.Leu3245=)
NM_003737.4(DCHS1):c.9762C>T (p.Phe3254=)
NM_003737.4(DCHS1):c.9772C>T (p.Leu3258=)
NM_003737.4(DCHS1):c.9804C>T (p.Val3268=)
NM_003737.4(DCHS1):c.9849C>T (p.Ser3283=)
NM_003737.4(DCHS1):c.987A>G (p.Glu329=)
NM_003737.4(DCHS1):c.9882G>A (p.Thr3294=)
NM_003737.4(DCHS1):c.99G>A (p.Leu33=)
NM_003737.4(DCHS1):c.9G>A (p.Lys3=) rs2134646958

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