ClinVar Miner

List of variants in gene ASS1 studied for Citrullinemia

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 647
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_054012.4(ASS1):c.597+18A>G rs652313 0.77461
NM_054012.4(ASS1):c.501C>T (p.His167=) rs10901072 0.12154
NM_054012.4(ASS1):c.876T>C (p.His292=) rs1057484 0.10667
NM_054012.4(ASS1):c.597+8C>T rs77343702 0.04911
NM_054012.4(ASS1):c.688+4T>C rs78432485 0.02036
NM_054012.4(ASS1):c.766G>A (p.Glu256Lys) rs74923032 0.00937
NM_054012.4(ASS1):c.364-6T>C rs116103138 0.00881
NM_054012.4(ASS1):c.421-19C>T rs138744326 0.00736
NM_054012.4(ASS1):c.675C>T (p.Ile225=) rs58233547 0.00735
NM_054012.4(ASS1):c.106-10T>G rs73541957 0.00593
NM_054012.4(ASS1):c.622A>G (p.Thr208Ala) rs62637575 0.00277
NM_054012.4(ASS1):c.1101G>A (p.Leu367=) rs139031154 0.00128
NM_054012.4(ASS1):c.363+16A>G rs191432165 0.00099
NM_054012.4(ASS1):c.420+13T>G rs201883474 0.00099
NM_054012.4(ASS1):c.106-16C>T rs200396223 0.00096
NM_054012.4(ASS1):c.1134C>T (p.Asn378=) rs140715869 0.00094
NM_054012.4(ASS1):c.99C>T (p.Ala33=) rs147842617 0.00081
NM_054012.4(ASS1):c.175-16G>T rs373936572 0.00045
NM_054012.4(ASS1):c.322C>T (p.Arg108Trp) rs143405567 0.00035
NM_054012.4(ASS1):c.411C>T (p.Pro137=) rs139250536 0.00034
NM_054012.4(ASS1):c.333C>T (p.Ala111=) rs141568959 0.00031
NM_054012.4(ASS1):c.1015G>A (p.Ala339Thr) rs145100866 0.00028
NM_054012.4(ASS1):c.1168G>A (p.Gly390Arg) rs121908641 0.00025
NM_054012.4(ASS1):c.165G>A (p.Gly55=) rs146333243 0.00024
NM_054012.4(ASS1):c.240C>T (p.Ser80=) rs147910468 0.00023
NM_054012.4(ASS1):c.-4C>T rs138350285 0.00022
NM_054012.4(ASS1):c.710A>G (p.Asn237Ser) rs565520844 0.00021
NM_054012.4(ASS1):c.765C>T (p.Asn255=) rs375579096 0.00020
NM_054012.4(ASS1):c.299G>A (p.Arg100His) rs138279074 0.00019
NM_054012.4(ASS1):c.174+4C>A rs368133957 0.00016
NM_054012.4(ASS1):c.330G>A (p.Gly110=) rs780445340 0.00015
NM_054012.4(ASS1):c.1165A>G (p.Thr389Ala) rs145288815 0.00014
NM_054012.4(ASS1):c.351C>T (p.Gly117=) rs2228429 0.00014
NM_054012.4(ASS1):c.858A>T (p.Ala286=) rs201905628 0.00014
NM_054012.4(ASS1):c.241G>A (p.Ala81Thr) rs141640176 0.00013
NM_054012.4(ASS1):c.549G>A (p.Glu183=) rs747401210 0.00013
NM_054012.4(ASS1):c.489C>T (p.Tyr163=) rs377319610 0.00012
NM_054012.4(ASS1):c.18C>T (p.Ser6=) rs555717331 0.00011
NM_054012.4(ASS1):c.963G>A (p.Val321=) rs141053589 0.00011
NM_054012.4(ASS1):c.774-17A>G rs372931120 0.00010
NM_054012.4(ASS1):c.1003C>T (p.Arg335Cys) rs373514077 0.00009
NM_054012.4(ASS1):c.19G>A (p.Val7Met) rs149938546 0.00009
NM_054012.4(ASS1):c.919C>T (p.Arg307Cys) rs183276875 0.00009
NM_054012.4(ASS1):c.1056C>T (p.Ser352=) rs766889925 0.00008
NM_054012.4(ASS1):c.175-5C>T rs747058030 0.00008
NM_054012.4(ASS1):c.245T>C (p.Leu82Pro) rs559043503 0.00008
NM_054012.4(ASS1):c.773C>T (p.Ala258Val) rs753078725 0.00008
NM_054012.4(ASS1):c.174+10G>A rs371597908 0.00007
NM_054012.4(ASS1):c.535T>C (p.Trp179Arg) rs121908646 0.00007
NM_054012.4(ASS1):c.805G>A (p.Val269Met) rs370595480 0.00007
NM_054012.4(ASS1):c.1047G>T (p.Val349=) rs376502913 0.00006
NM_054012.4(ASS1):c.1211G>A (p.Arg404His) rs752612525 0.00006
NM_054012.4(ASS1):c.295G>A (p.Ala99Thr) rs150466363 0.00006
NM_054012.4(ASS1):c.458G>A (p.Arg153Gln) rs373239430 0.00006
NM_054012.4(ASS1):c.470G>A (p.Arg157His) rs121908637 0.00006
NM_054012.4(ASS1):c.1004G>A (p.Arg335His) rs555388438 0.00005
NM_054012.4(ASS1):c.552C>T (p.Asn184=) rs368192467 0.00005
NM_054012.4(ASS1):c.624G>A (p.Thr208=) rs759518085 0.00005
NM_054012.4(ASS1):c.787G>A (p.Val263Met) rs192838388 0.00005
NM_054012.4(ASS1):c.911G>A (p.Arg304Gln) rs771640767 0.00005
NM_054012.4(ASS1):c.105+10C>T rs1010509460 0.00004
NM_054012.4(ASS1):c.1059C>T (p.Val353=) rs759769412 0.00004
NM_054012.4(ASS1):c.1087C>T (p.Arg363Trp) rs121908640 0.00004
NM_054012.4(ASS1):c.142A>G (p.Arg48Gly) rs374695792 0.00004
NM_054012.4(ASS1):c.348C>T (p.His116=) rs770688393 0.00004
NM_054012.4(ASS1):c.352G>A (p.Ala118Thr) rs775305020 0.00004
NM_054012.4(ASS1):c.421-8A>C rs764424984 0.00004
NM_054012.4(ASS1):c.469C>T (p.Arg157Cys) rs770585183 0.00004
NM_054012.4(ASS1):c.533C>T (p.Pro178Leu) rs768846877 0.00004
NM_054012.4(ASS1):c.564C>T (p.Ile188=) rs2297599 0.00004
NM_054012.4(ASS1):c.566+11C>T rs200527708 0.00004
NM_054012.4(ASS1):c.796A>G (p.Ile266Val) rs377221825 0.00004
NM_054012.4(ASS1):c.847G>A (p.Glu283Lys) rs765338121 0.00004
NM_054012.4(ASS1):c.892del (p.Glu298fs) rs770362721 0.00004
NM_054012.4(ASS1):c.90C>T (p.Asp30=) rs371519061 0.00004
NM_054012.4(ASS1):c.1057G>A (p.Val353Ile) rs754285392 0.00003
NM_054012.4(ASS1):c.1069C>T (p.Gln357Ter) rs756859126 0.00003
NM_054012.4(ASS1):c.132C>T (p.Phe44=) rs761408245 0.00003
NM_054012.4(ASS1):c.151G>A (p.Ala51Thr) rs142350255 0.00003
NM_054012.4(ASS1):c.175-4G>A rs370817871 0.00003
NM_054012.4(ASS1):c.190G>A (p.Val64Ile) rs556297791 0.00003
NM_054012.4(ASS1):c.298C>T (p.Arg100Cys) rs370695114 0.00003
NM_054012.4(ASS1):c.33C>T (p.Tyr11=) rs574820010 0.00003
NM_054012.4(ASS1):c.495+8C>T rs762250168 0.00003
NM_054012.4(ASS1):c.570C>T (p.Tyr190=) rs758481857 0.00003
NM_054012.4(ASS1):c.571G>A (p.Glu191Lys) rs777828000 0.00003
NM_054012.4(ASS1):c.607C>A (p.Pro203Thr) rs147858743 0.00003
NM_054012.4(ASS1):c.688+10C>T rs890497211 0.00003
NM_054012.4(ASS1):c.772G>A (p.Ala258Thr) rs765748014 0.00003
NM_054012.4(ASS1):c.786C>T (p.Gly262=) rs536799104 0.00003
NM_054012.4(ASS1):c.849G>A (p.Glu283=) rs569267797 0.00003
NM_054012.4(ASS1):c.970G>A (p.Gly324Ser) rs121908639 0.00003
NM_054012.4(ASS1):c.1127+15C>T rs1057523862 0.00002
NM_054012.4(ASS1):c.1194-1G>C rs727503814 0.00002
NM_054012.4(ASS1):c.144G>A (p.Arg48=) rs756107583 0.00002
NM_054012.4(ASS1):c.294C>T (p.Ile98=) rs183370361 0.00002
NM_054012.4(ASS1):c.336G>A (p.Lys112=) rs374535616 0.00002
NM_054012.4(ASS1):c.381G>A (p.Arg127=) rs1338613142 0.00002
NM_054012.4(ASS1):c.490G>A (p.Ala164Thr) rs201445618 0.00002
NM_054012.4(ASS1):c.495+9G>A rs767706288 0.00002
NM_054012.4(ASS1):c.534G>A (p.Pro178=) rs113818350 0.00002
NM_054012.4(ASS1):c.567-4G>A rs754758285 0.00002
NM_054012.4(ASS1):c.567-5C>T rs753543907 0.00002
NM_054012.4(ASS1):c.726C>T (p.Thr242=) rs768496429 0.00002
NM_054012.4(ASS1):c.836G>A (p.Arg279Gln) rs371265106 0.00002
NM_054012.4(ASS1):c.920G>A (p.Arg307His) rs571576756 0.00002
NM_054012.4(ASS1):c.929A>G (p.Lys310Arg) rs199751308 0.00002
NM_054012.4(ASS1):c.930A>G (p.Lys310=) rs200219927 0.00002
NM_054012.4(ASS1):c.94A>G (p.Ile32Val) rs142221856 0.00002
NM_054012.4(ASS1):c.966T>C (p.Tyr322=) rs750851227 0.00002
NM_054012.4(ASS1):c.-5-10C>G rs375136377 0.00001
NM_054012.4(ASS1):c.1014C>T (p.Ile338=) rs749554993 0.00001
NM_054012.4(ASS1):c.1030C>T (p.Arg344Ter) rs786204537 0.00001
NM_054012.4(ASS1):c.105+14C>T rs750278093 0.00001
NM_054012.4(ASS1):c.1051G>A (p.Val351Met) rs773909247 0.00001
NM_054012.4(ASS1):c.1053G>A (p.Val351=) rs761241799 0.00001
NM_054012.4(ASS1):c.1074G>A (p.Val358=) rs1256882753 0.00001
NM_054012.4(ASS1):c.1075T>C (p.Tyr359His) rs1262020902 0.00001
NM_054012.4(ASS1):c.1083C>T (p.Leu361=) rs78564724 0.00001
NM_054012.4(ASS1):c.1088G>A (p.Arg363Gln) rs771937610 0.00001
NM_054012.4(ASS1):c.1117G>T (p.Glu373Ter) rs1453708640 0.00001
NM_054012.4(ASS1):c.1127+8C>T rs1231262490 0.00001
NM_054012.4(ASS1):c.1167C>T (p.Thr389=) rs772796860 0.00001
NM_054012.4(ASS1):c.1173C>A (p.Phe391Leu) rs1554725724 0.00001
NM_054012.4(ASS1):c.1194-10del rs778919653 0.00001
NM_054012.4(ASS1):c.1197G>A (p.Leu399=) rs1342431625 0.00001
NM_054012.4(ASS1):c.174+11G>A rs771403927 0.00001
NM_054012.4(ASS1):c.174+1G>T rs748264993 0.00001
NM_054012.4(ASS1):c.175-1119G>A rs1488840592 0.00001
NM_054012.4(ASS1):c.183T>C (p.Ile61=) rs1036284939 0.00001
NM_054012.4(ASS1):c.206T>C (p.Val69Ala) rs771594651 0.00001
NM_054012.4(ASS1):c.210G>A (p.Glu70=) rs1465915503 0.00001
NM_054012.4(ASS1):c.225G>A (p.Pro75=) rs765933359 0.00001
NM_054012.4(ASS1):c.246G>A (p.Leu82=) rs757342268 0.00001
NM_054012.4(ASS1):c.247T>C (p.Tyr83His) rs753659761 0.00001
NM_054012.4(ASS1):c.256C>T (p.Arg86Cys) rs121908644 0.00001
NM_054012.4(ASS1):c.257G>A (p.Arg86His) rs575001023 0.00001
NM_054012.4(ASS1):c.261C>T (p.Tyr87=) rs749648285 0.00001
NM_054012.4(ASS1):c.315C>T (p.Ile105=) rs953220613 0.00001
NM_054012.4(ASS1):c.349G>A (p.Gly117Ser) rs770944877 0.00001
NM_054012.4(ASS1):c.369C>T (p.Asn123=) rs761616623 0.00001
NM_054012.4(ASS1):c.370G>A (p.Asp124Asn) rs936192871 0.00001
NM_054012.4(ASS1):c.380G>A (p.Arg127Gln) rs201623252 0.00001
NM_054012.4(ASS1):c.390C>G (p.Leu130=) rs760943587 0.00001
NM_054012.4(ASS1):c.39C>T (p.Gly13=) rs769672308 0.00001
NM_054012.4(ASS1):c.40G>A (p.Gly14Ser) rs121908636 0.00001
NM_054012.4(ASS1):c.423C>G (p.Val141=) rs887468647 0.00001
NM_054012.4(ASS1):c.430C>T (p.Pro144Ser) rs769831651 0.00001
NM_054012.4(ASS1):c.438G>A (p.Arg146=) rs1180017518 0.00001
NM_054012.4(ASS1):c.513C>T (p.Ile171=) rs1322818918 0.00001
NM_054012.4(ASS1):c.53C>T (p.Ser18Leu) rs121908643 0.00001
NM_054012.4(ASS1):c.54G>A (p.Ser18=) rs768923973 0.00001
NM_054012.4(ASS1):c.556A>G (p.Met186Val) rs1845851030 0.00001
NM_054012.4(ASS1):c.561C>T (p.His187=) rs1403877099 0.00001
NM_054012.4(ASS1):c.566+20C>T rs572425289 0.00001
NM_054012.4(ASS1):c.566+9C>A rs1445034997 0.00001
NM_054012.4(ASS1):c.577G>A (p.Gly193Arg) rs1311437424 0.00001
NM_054012.4(ASS1):c.606G>A (p.Ala202=) rs747850211 0.00001
NM_054012.4(ASS1):c.63C>T (p.Leu21=) rs774476997 0.00001
NM_054012.4(ASS1):c.647C>A (p.Ala216Asp) rs1043964127 0.00001
NM_054012.4(ASS1):c.656C>A (p.Thr219Asn) rs769538241 0.00001
NM_054012.4(ASS1):c.669C>T (p.Leu223=) rs763203138 0.00001
NM_054012.4(ASS1):c.688+13C>T rs1179330591 0.00001
NM_054012.4(ASS1):c.688+7G>T rs1846038006 0.00001
NM_054012.4(ASS1):c.689-2A>C rs374586230 0.00001
NM_054012.4(ASS1):c.711C>T (p.Asn237=) rs779981831 0.00001
NM_054012.4(ASS1):c.712G>A (p.Val238Ile) rs368414392 0.00001
NM_054012.4(ASS1):c.771C>T (p.Val257=) rs547904731 0.00001
NM_054012.4(ASS1):c.773+49C>T rs763389916 0.00001
NM_054012.4(ASS1):c.793C>T (p.Arg265Cys) rs148918985 0.00001
NM_054012.4(ASS1):c.808G>C (p.Glu270Gln) rs775163147 0.00001
NM_054012.4(ASS1):c.835C>T (p.Arg279Ter) rs121908645 0.00001
NM_054012.4(ASS1):c.838+1G>T rs750214431 0.00001
NM_054012.4(ASS1):c.838+9G>A rs760468184 0.00001
NM_054012.4(ASS1):c.839-6G>C rs766187530 0.00001
NM_054012.4(ASS1):c.84C>A (p.Gly28=) rs1386337873 0.00001
NM_054012.4(ASS1):c.851C>T (p.Thr284Ile) rs886039853 0.00001
NM_054012.4(ASS1):c.889A>G (p.Ile297Val) rs757629975 0.00001
NM_054012.4(ASS1):c.891C>T (p.Ile297=) rs200900381 0.00001
NM_054012.4(ASS1):c.892G>A (p.Glu298Lys) rs1372482894 0.00001
NM_054012.4(ASS1):c.893A>G (p.Glu298Gly) rs372061654 0.00001
NM_054012.4(ASS1):c.910C>T (p.Arg304Trp) rs121908642 0.00001
NM_054012.4(ASS1):c.928A>C (p.Lys310Gln) rs121908648 0.00001
NM_054012.4(ASS1):c.960G>A (p.Leu320=) rs752064358 0.00001
NM_054012.4(ASS1):c.965A>G (p.Tyr322Cys) rs373473841 0.00001
NM_054012.4(ASS1):c.970+4C>T rs1460424492 0.00001
NM_054012.4(ASS1):c.970+5G>A rs372128852 0.00001
NM_054012.4(ASS1):c.990G>A (p.Glu330=) rs746549187 0.00001
NC_000009.11:g.(?_133319094)_(133377661_?)del
NC_000009.11:g.(?_133327601)_(133376418_?)del
NC_000009.11:g.(?_133327616)_(133327740_?)del
NC_000009.11:g.(?_133327616)_(133333996_?)del
NC_000009.11:g.(?_133327616)_(133352368_?)dup
NC_000009.11:g.(?_133333768)_(133333996_?)del
NC_000009.11:g.(?_133339478)_(133346922_?)del
NC_000009.11:g.(?_133339488)_(133339564_?)del
NC_000009.11:g.(?_133340833)_(133342151_?)del
NC_000009.11:g.(?_133342092)_(133342206_?)del
NC_000009.11:g.(?_133346201)_(133376408_?)del
NC_000009.11:g.(?_133346211)_(133346912_?)del
NC_000009.11:g.(?_133346862)_(133346912_?)dup
NC_000009.11:g.(?_133352248)_(133352358_?)del
NC_000009.11:g.(?_133352248)_(133355846_?)del
NC_000009.11:g.(?_133355083)_(133355856_?)del
NC_000009.11:g.(?_133355093)_(133355236_?)del
NC_000009.12:g.(?_130452214)_(130454383_?)del
NC_000009.12:g.(?_130464091)_(130464187_?)del
NC_000009.12:g.(?_130489323)_(130489474_?)del
NC_000009.12:g.130479718dup rs2118839419
NM_000050.4(ASS1):c.366delG rs1057516544
NM_054012.4(ASS1):c.1009T>G (p.Cys337Gly) rs1554725043
NM_054012.4(ASS1):c.1010_1011delinsAA (p.Cys337Ter) rs2118880115
NM_054012.4(ASS1):c.1020G>A (p.Lys340=)
NM_054012.4(ASS1):c.1025A>C (p.Gln342Pro)
NM_054012.4(ASS1):c.1025A>G (p.Gln342Arg) rs1554725061
NM_054012.4(ASS1):c.102T>C (p.Tyr34=) rs1236633346
NM_054012.4(ASS1):c.1035G>A (p.Val345=) rs2118880192
NM_054012.4(ASS1):c.1041G>A (p.Gly347=)
NM_054012.4(ASS1):c.1041G>T (p.Gly347=)
NM_054012.4(ASS1):c.1048C>T (p.Gln350Ter) rs2118880266
NM_054012.4(ASS1):c.105+10C>A rs1010509460
NM_054012.4(ASS1):c.105+11G>A
NM_054012.4(ASS1):c.105+14C>G
NM_054012.4(ASS1):c.105+17G>C
NM_054012.4(ASS1):c.105+7G>A
NM_054012.4(ASS1):c.106-14C>T
NM_054012.4(ASS1):c.106-15G>A rs77534228
NM_054012.4(ASS1):c.106-15G>C
NM_054012.4(ASS1):c.106-15G>T
NM_054012.4(ASS1):c.106-19C>G
NM_054012.4(ASS1):c.106-5C>T
NM_054012.4(ASS1):c.1060del (p.Leu354fs)
NM_054012.4(ASS1):c.1062C>G (p.Leu354=) rs763822587
NM_054012.4(ASS1):c.1062C>T (p.Leu354=) rs763822587
NM_054012.4(ASS1):c.1070A>G (p.Gln357Arg) rs1846543789
NM_054012.4(ASS1):c.1075T>G (p.Tyr359Asp) rs1262020902
NM_054012.4(ASS1):c.1077C>T (p.Tyr359=)
NM_054012.4(ASS1):c.1085G>T (p.Gly362Val) rs121908647
NM_054012.4(ASS1):c.1086C>T (p.Gly362=)
NM_054012.4(ASS1):c.1087C>G (p.Arg363Gly) rs121908640
NM_054012.4(ASS1):c.1090del (p.Glu364fs)
NM_054012.4(ASS1):c.1104T>C (p.Ser368=)
NM_054012.4(ASS1):c.1107_1108del (p.Tyr370fs) rs2118880626
NM_054012.4(ASS1):c.1110C>T (p.Tyr370=) rs1588508629
NM_054012.4(ASS1):c.1118_1123del (p.Glu373_Leu374del) rs2118880656
NM_054012.4(ASS1):c.111C>T (p.Asn37=)
NM_054012.4(ASS1):c.1125G>A (p.Val375=)
NM_054012.4(ASS1):c.1127+10C>T
NM_054012.4(ASS1):c.1127+17_1127+27del
NM_054012.4(ASS1):c.1127+18C>T
NM_054012.4(ASS1):c.1128-12C>T
NM_054012.4(ASS1):c.1128-16T>C
NM_054012.4(ASS1):c.1128-20A>G
NM_054012.4(ASS1):c.1128-4G>A
NM_054012.4(ASS1):c.1128-6_1188dup rs1554725677
NM_054012.4(ASS1):c.1128-7C>T rs1846686034
NM_054012.4(ASS1):c.1128_1134delinsG (p.Ser376_Asn378delinsArg) rs1439911743
NM_054012.4(ASS1):c.1130T>C (p.Met377Thr)
NM_054012.4(ASS1):c.1135G>A (p.Val379Met)
NM_054012.4(ASS1):c.1137G>A (p.Val379=)
NM_054012.4(ASS1):c.1138C>T (p.Gln380Ter) rs786204460
NM_054012.4(ASS1):c.1149T>C (p.Tyr383=)
NM_054012.4(ASS1):c.1152G>A (p.Glu384=) rs2118893688
NM_054012.4(ASS1):c.1153C>G (p.Pro385Ala)
NM_054012.4(ASS1):c.1157_1158del (p.Thr386fs) rs1846687897
NM_054012.4(ASS1):c.115G>C (p.Gly39Arg) rs2131869276
NM_054012.4(ASS1):c.1161T>C (p.Asp387=) rs1193686175
NM_054012.4(ASS1):c.1162G>T (p.Ala388Ser)
NM_054012.4(ASS1):c.1164C>T (p.Ala388=)
NM_054012.4(ASS1):c.1166C>T (p.Thr389Ile) rs1474017319
NM_054012.4(ASS1):c.1167C>G (p.Thr389=) rs772796860
NM_054012.4(ASS1):c.1167dup (p.Gly390fs)
NM_054012.4(ASS1):c.1170G>A (p.Gly390=) rs1332789289
NM_054012.4(ASS1):c.1170G>C (p.Gly390=) rs1332789289
NM_054012.4(ASS1):c.1170G>T (p.Gly390=) rs1332789289
NM_054012.4(ASS1):c.1176C>G (p.Ile392Met)
NM_054012.4(ASS1):c.1176C>T (p.Ile392=)
NM_054012.4(ASS1):c.1179C>T (p.Asn393=) rs754836732
NM_054012.4(ASS1):c.117C>G (p.Gly39=) rs1378899995
NM_054012.4(ASS1):c.117C>T (p.Gly39=)
NM_054012.4(ASS1):c.1186T>A (p.Ser396Thr)
NM_054012.4(ASS1):c.1188C>A (p.Ser396=)
NM_054012.4(ASS1):c.1191C>G (p.Leu397=)
NM_054012.4(ASS1):c.1191C>T (p.Leu397=) rs2118893885
NM_054012.4(ASS1):c.1193+14G>C
NM_054012.4(ASS1):c.1193+18C>G
NM_054012.4(ASS1):c.1193+7A>G
NM_054012.4(ASS1):c.1193+8G>A
NM_054012.4(ASS1):c.1194-19_1197dup
NM_054012.4(ASS1):c.1194-8G>A rs2118897971
NM_054012.4(ASS1):c.1194-9G>T
NM_054012.4(ASS1):c.1194G>C (p.Arg398Ser)
NM_054012.4(ASS1):c.1200G>A (p.Lys400=)
NM_054012.4(ASS1):c.1201G>A (p.Glu401Lys) rs990803455
NM_054012.4(ASS1):c.120del (p.Lys41fs) rs1554982237
NM_054012.4(ASS1):c.1215C>G (p.Leu405=) rs1278858341
NM_054012.4(ASS1):c.1233C>T (p.Ala411=) rs2118898134
NM_054012.4(ASS1):c.123G>A (p.Lys41=)
NM_054012.4(ASS1):c.133G>A (p.Glu45Lys)
NM_054012.4(ASS1):c.138_139del (p.Glu46fs)
NM_054012.4(ASS1):c.140C>T (p.Ala47Val) rs1301161301
NM_054012.4(ASS1):c.14G>C (p.Gly5Ala) rs201700775
NM_054012.4(ASS1):c.153A>G (p.Ala51=)
NM_054012.4(ASS1):c.159G>A (p.Lys53=) rs2131869324
NM_054012.4(ASS1):c.160C>G (p.Leu54Val) rs1564902078
NM_054012.4(ASS1):c.165G>T (p.Gly55=) rs146333243
NM_054012.4(ASS1):c.167C>A (p.Ala56Asp) rs2131869336
NM_054012.4(ASS1):c.16T>G (p.Ser6Ala)
NM_054012.4(ASS1):c.174+13_174+14del
NM_054012.4(ASS1):c.174+14G>A rs1554982247
NM_054012.4(ASS1):c.174+16C>G
NM_054012.4(ASS1):c.174+18G>A
NM_054012.4(ASS1):c.174+1G>A rs748264993
NM_054012.4(ASS1):c.174+2T>C
NM_054012.4(ASS1):c.174+7G>A
NM_054012.4(ASS1):c.174+8G>T
NM_054012.4(ASS1):c.175-10C>T rs1412793547
NM_054012.4(ASS1):c.175-12C>T
NM_054012.4(ASS1):c.175-13C>T
NM_054012.4(ASS1):c.175-15CTC[3]
NM_054012.4(ASS1):c.175-19T>C
NM_054012.4(ASS1):c.175-20C>T
NM_054012.4(ASS1):c.175-4G>C rs370817871
NM_054012.4(ASS1):c.175-6C>G
NM_054012.4(ASS1):c.175-7C>A
NM_054012.4(ASS1):c.175-7C>G rs567594559
NM_054012.4(ASS1):c.177G>A (p.Val59=)
NM_054012.4(ASS1):c.180C>T (p.Phe60=)
NM_054012.4(ASS1):c.182T>C (p.Ile61Thr)
NM_054012.4(ASS1):c.186G>A (p.Glu62=)
NM_054012.4(ASS1):c.188_189del (p.Asp63fs)
NM_054012.4(ASS1):c.189T>C (p.Asp63=)
NM_054012.4(ASS1):c.18C>G (p.Ser6=) rs555717331
NM_054012.4(ASS1):c.198G>A (p.Arg66=)
NM_054012.4(ASS1):c.199G>A (p.Glu67Lys)
NM_054012.4(ASS1):c.199G>T (p.Glu67Ter)
NM_054012.4(ASS1):c.207G>A (p.Val69=) rs2131873972
NM_054012.4(ASS1):c.213G>A (p.Glu71=) rs373501531
NM_054012.4(ASS1):c.214T>A (p.Phe72Ile)
NM_054012.4(ASS1):c.216C>G (p.Phe72Leu) rs1554982824
NM_054012.4(ASS1):c.222G>A (p.Trp74Ter)
NM_054012.4(ASS1):c.231C>G (p.Ile77Met)
NM_054012.4(ASS1):c.234G>A (p.Gln78=)
NM_054012.4(ASS1):c.241_242del (p.Ala81fs)
NM_054012.4(ASS1):c.250G>A (p.Glu84Lys) rs1554982834
NM_054012.4(ASS1):c.258C>T (p.Arg86=)
NM_054012.4(ASS1):c.262C>A (p.Leu88Ile) rs895822620
NM_054012.4(ASS1):c.264C>T (p.Leu88=)
NM_054012.4(ASS1):c.267G>C (p.Leu89=)
NM_054012.4(ASS1):c.271A>C (p.Thr91Pro)
NM_054012.4(ASS1):c.273C>G (p.Thr91=)
NM_054012.4(ASS1):c.285G>A (p.Arg95=)
NM_054012.4(ASS1):c.285_286delinsTT (p.Arg95_Pro96delinsSerSer)
NM_054012.4(ASS1):c.286C>A (p.Pro96Thr) rs2131874080
NM_054012.4(ASS1):c.28G>C (p.Ala10Pro) rs1845345016
NM_054012.4(ASS1):c.294C>A (p.Ile98=) rs183370361
NM_054012.4(ASS1):c.300C>T (p.Arg100=)
NM_054012.4(ASS1):c.309G>A (p.Val103=) rs1845505058
NM_054012.4(ASS1):c.314T>G (p.Ile105Ser) rs1845505181
NM_054012.4(ASS1):c.317C>G (p.Ala106Gly)
NM_054012.4(ASS1):c.318C>T (p.Ala106=)
NM_054012.4(ASS1):c.319del (p.Gln107fs) rs1564903969
NM_054012.4(ASS1):c.322C>A (p.Arg108=) rs143405567
NM_054012.4(ASS1):c.323G>A (p.Arg108Gln)
NM_054012.4(ASS1):c.323G>T (p.Arg108Leu) rs35269064
NM_054012.4(ASS1):c.324G>A (p.Arg108=)
NM_054012.4(ASS1):c.339T>G (p.Tyr113Ter) rs1845506282
NM_054012.4(ASS1):c.350G>A (p.Gly117Asp) rs745404241
NM_054012.4(ASS1):c.356C>T (p.Thr119Ile) rs1845507027
NM_054012.4(ASS1):c.360A>G (p.Gly120=)
NM_054012.4(ASS1):c.363+17G>T
NM_054012.4(ASS1):c.363+19G>T
NM_054012.4(ASS1):c.363+1G>A
NM_054012.4(ASS1):c.363+20C>G
NM_054012.4(ASS1):c.363+7C>T
NM_054012.4(ASS1):c.363+8A>C
NM_054012.4(ASS1):c.363+9C>T rs2131874222
NM_054012.4(ASS1):c.363G>A (p.Lys121=) rs2131874200
NM_054012.4(ASS1):c.364-2A>T rs774231051
NM_054012.4(ASS1):c.364-7A>C
NM_054012.4(ASS1):c.366G>T (p.Gly122=)
NM_054012.4(ASS1):c.370G>T (p.Asp124Tyr)
NM_054012.4(ASS1):c.373C>T (p.Gln125Ter) rs2131879687
NM_054012.4(ASS1):c.378C>G (p.Val126=)
NM_054012.4(ASS1):c.379C>G (p.Arg127Gly) rs771794639
NM_054012.4(ASS1):c.380G>T (p.Arg127Leu) rs201623252
NM_054012.4(ASS1):c.383T>C (p.Phe128Ser)
NM_054012.4(ASS1):c.399C>T (p.Tyr133=) rs766423479
NM_054012.4(ASS1):c.403C>T (p.Leu135=)
NM_054012.4(ASS1):c.404T>C (p.Leu135Pro)
NM_054012.4(ASS1):c.406_414del (p.Ala136_Gln138del) rs1554983716
NM_054012.4(ASS1):c.408C>A (p.Ala136=)
NM_054012.4(ASS1):c.408C>T (p.Ala136=) rs765880041
NM_054012.4(ASS1):c.412C>T (p.Gln138Ter) rs1057516339
NM_054012.4(ASS1):c.412dup (p.Gln138fs) rs1554983717
NM_054012.4(ASS1):c.420+10G>T
NM_054012.4(ASS1):c.420+12C>T
NM_054012.4(ASS1):c.420+13T>A
NM_054012.4(ASS1):c.420+18C>A
NM_054012.4(ASS1):c.420+18C>G
NM_054012.4(ASS1):c.420+19C>A rs2131879768
NM_054012.4(ASS1):c.420+3A>G
NM_054012.4(ASS1):c.420+8G>A
NM_054012.4(ASS1):c.421-11C>G
NM_054012.4(ASS1):c.421-14T>C
NM_054012.4(ASS1):c.421-16C>T
NM_054012.4(ASS1):c.421-17C>G
NM_054012.4(ASS1):c.421-18C>A
NM_054012.4(ASS1):c.421-2A>G rs751930594
NM_054012.4(ASS1):c.421-7T>C rs1588483261
NM_054012.4(ASS1):c.421-8A>G rs764424984
NM_054012.4(ASS1):c.421-8A>T rs764424984
NM_054012.4(ASS1):c.426T>A (p.Ile142=) rs2131882512
NM_054012.4(ASS1):c.429T>C (p.Ala143=)
NM_054012.4(ASS1):c.42C>G (p.Gly14=)
NM_054012.4(ASS1):c.440T>C (p.Met147Thr)
NM_054012.4(ASS1):c.444T>C (p.Pro148=) rs1564907641
NM_054012.4(ASS1):c.447A>G (p.Glu149=)
NM_054012.4(ASS1):c.450C>T (p.Phe150=) rs2131882534
NM_054012.4(ASS1):c.450_451del (p.Phe150fs) rs786204648
NM_054012.4(ASS1):c.456C>T (p.Asn152=)
NM_054012.4(ASS1):c.457C>A (p.Arg153=) rs576636333
NM_054012.4(ASS1):c.459G>T (p.Arg153=)
NM_054012.4(ASS1):c.460_467del (p.Phe154fs) rs1004492719
NM_054012.4(ASS1):c.462C>T (p.Phe154=)
NM_054012.4(ASS1):c.463A>T (p.Lys155Ter)
NM_054012.4(ASS1):c.471C>T (p.Arg157=)
NM_054012.4(ASS1):c.472A>G (p.Asn158Asp) rs1199062770
NM_054012.4(ASS1):c.475G>A (p.Asp159Asn)
NM_054012.4(ASS1):c.479T>C (p.Leu160Pro) rs969835605
NM_054012.4(ASS1):c.481A>T (p.Met161Leu)
NM_054012.4(ASS1):c.484dup (p.Glu162fs) rs1313340299
NM_054012.4(ASS1):c.486G>A (p.Glu162=)
NM_054012.4(ASS1):c.489C>A (p.Tyr163Ter) rs377319610
NM_054012.4(ASS1):c.489C>G (p.Tyr163Ter) rs377319610
NM_054012.4(ASS1):c.490G>C (p.Ala164Pro) rs201445618
NM_054012.4(ASS1):c.495+11G>C
NM_054012.4(ASS1):c.495+15C>A
NM_054012.4(ASS1):c.495+16C>T
NM_054012.4(ASS1):c.495+1G>C rs1845754405
NM_054012.4(ASS1):c.495+1G>T rs1845754405
NM_054012.4(ASS1):c.495+20C>G
NM_054012.4(ASS1):c.495+20C>T
NM_054012.4(ASS1):c.495+2T>C rs2131882609
NM_054012.4(ASS1):c.495+7C>T
NM_054012.4(ASS1):c.496-11C>G
NM_054012.4(ASS1):c.496-15_496-14del
NM_054012.4(ASS1):c.496-16T>C
NM_054012.4(ASS1):c.496-18G>T
NM_054012.4(ASS1):c.496-20G>A
NM_054012.4(ASS1):c.496-2A>G rs398123130
NM_054012.4(ASS1):c.496-5T>C
NM_054012.4(ASS1):c.496-7C>G
NM_054012.4(ASS1):c.500A>G (p.His167Arg)
NM_054012.4(ASS1):c.502G>A (p.Gly168Arg)
NM_054012.4(ASS1):c.504G>T (p.Gly168=)
NM_054012.4(ASS1):c.510C>T (p.Pro170=)
NM_054012.4(ASS1):c.515C>G (p.Pro172Arg) rs372078387
NM_054012.4(ASS1):c.516G>C (p.Pro172=)
NM_054012.4(ASS1):c.518T>A (p.Val173Asp) rs1588486990
NM_054012.4(ASS1):c.51C>T (p.Thr17=) rs1045437120
NM_054012.4(ASS1):c.536G>A (p.Trp179Ter) rs2131886482
NM_054012.4(ASS1):c.537G>A (p.Trp179Ter)
NM_054012.4(ASS1):c.537G>C (p.Trp179Cys) rs1409764603
NM_054012.4(ASS1):c.539G>A (p.Ser180Asn) rs121908638
NM_054012.4(ASS1):c.539G>T (p.Ser180Ile) rs121908638
NM_054012.4(ASS1):c.544G>A (p.Asp182Asn)
NM_054012.4(ASS1):c.557T>G (p.Met186Arg) rs1564151430
NM_054012.4(ASS1):c.566+12C>T
NM_054012.4(ASS1):c.566+14T>G
NM_054012.4(ASS1):c.566+18C>G rs200036163
NM_054012.4(ASS1):c.566+18C>T rs200036163
NM_054012.4(ASS1):c.566+7C>T
NM_054012.4(ASS1):c.566+8C>T rs773713440
NM_054012.4(ASS1):c.566+9C>T rs1445034997
NM_054012.4(ASS1):c.567-14T>C
NM_054012.4(ASS1):c.567-20C>T
NM_054012.4(ASS1):c.567-5C>G
NM_054012.4(ASS1):c.567-6C>A
NM_054012.4(ASS1):c.567-6C>G
NM_054012.4(ASS1):c.567-6C>T rs1554722504
NM_054012.4(ASS1):c.567-9C>A
NM_054012.4(ASS1):c.571G>C (p.Glu191Gln)
NM_054012.4(ASS1):c.572A>C (p.Glu191Ala) rs2131887113
NM_054012.4(ASS1):c.574G>A (p.Ala192Thr) rs568893606
NM_054012.4(ASS1):c.576T>G (p.Ala192=)
NM_054012.4(ASS1):c.578G>C (p.Gly193Ala) rs2131887129
NM_054012.4(ASS1):c.579A>G (p.Gly193=)
NM_054012.4(ASS1):c.57C>A (p.Cys19Ter)
NM_054012.4(ASS1):c.582C>T (p.Ile194=) rs2131887137
NM_054012.4(ASS1):c.584T>C (p.Leu195Pro) rs796051936
NM_054012.4(ASS1):c.585G>A (p.Leu195=) rs2131887144
NM_054012.4(ASS1):c.586G>A (p.Glu196Lys) rs1845865147
NM_054012.4(ASS1):c.591C>T (p.Asn197=) rs1355715277
NM_054012.4(ASS1):c.594C>T (p.Pro198=) rs1588487651
NM_054012.4(ASS1):c.597+10del
NM_054012.4(ASS1):c.597+14C>A
NM_054012.4(ASS1):c.597+19T>A
NM_054012.4(ASS1):c.597+7C>A
NM_054012.4(ASS1):c.598-12G>A
NM_054012.4(ASS1):c.598-12_598-9del
NM_054012.4(ASS1):c.598-14_598-13del
NM_054012.4(ASS1):c.598-20C>G
NM_054012.4(ASS1):c.598-20C>T
NM_054012.4(ASS1):c.598-5T>C rs2118831930
NM_054012.4(ASS1):c.598-5_598-4del rs749907969
NM_054012.4(ASS1):c.598-7T>C
NM_054012.4(ASS1):c.598-9T>G
NM_054012.4(ASS1):c.601C>G (p.Gln201Glu)
NM_054012.4(ASS1):c.601C>T (p.Gln201Ter)
NM_054012.4(ASS1):c.603A>G (p.Gln201=)
NM_054012.4(ASS1):c.605C>A (p.Ala202Glu) rs376371866
NM_054012.4(ASS1):c.609T>A (p.Pro203=)
NM_054012.4(ASS1):c.60C>T (p.Ile20=)
NM_054012.4(ASS1):c.611del (p.Pro204fs) rs2118832071
NM_054012.4(ASS1):c.617T>A (p.Leu206His)
NM_054012.4(ASS1):c.618C>T (p.Leu206=) rs2118832086
NM_054012.4(ASS1):c.619T>C (p.Tyr207His)
NM_054012.4(ASS1):c.621C>A (p.Tyr207Ter) rs2118832096
NM_054012.4(ASS1):c.621C>T (p.Tyr207=) rs2118832096
NM_054012.4(ASS1):c.623C>G (p.Thr208Arg) rs776441071
NM_054012.4(ASS1):c.625A>G (p.Lys209Glu)
NM_054012.4(ASS1):c.631C>T (p.Gln211Ter)
NM_054012.4(ASS1):c.638C>T (p.Pro213Leu) rs1486449199
NM_054012.4(ASS1):c.639A>G (p.Pro213=)
NM_054012.4(ASS1):c.63C>A (p.Leu21=) rs774476997
NM_054012.4(ASS1):c.645A>G (p.Lys215=) rs2118832166
NM_054012.4(ASS1):c.646G>A (p.Ala216Thr)
NM_054012.4(ASS1):c.648C>T (p.Ala216=)
NM_054012.4(ASS1):c.651C>A (p.Pro217=)
NM_054012.4(ASS1):c.653A>G (p.Asn218Ser)
NM_054012.4(ASS1):c.654C>T (p.Asn218=) rs1846035986
NM_054012.4(ASS1):c.65T>G (p.Val22Gly)
NM_054012.4(ASS1):c.663C>T (p.Asp221=)
NM_054012.4(ASS1):c.669C>G (p.Leu223=)
NM_054012.4(ASS1):c.676G>A (p.Glu226Lys)
NM_054012.4(ASS1):c.687dup (p.Gly230fs)
NM_054012.4(ASS1):c.688+10_688+13dup
NM_054012.4(ASS1):c.688+12C>A
NM_054012.4(ASS1):c.688+16T>C
NM_054012.4(ASS1):c.688+19G>A
NM_054012.4(ASS1):c.688+1G>C
NM_054012.4(ASS1):c.688+2T>C rs2118832404
NM_054012.4(ASS1):c.688+2del rs2118832409
NM_054012.4(ASS1):c.688+8C>T
NM_054012.4(ASS1):c.689-4C>T rs756916286
NM_054012.4(ASS1):c.690G>A (p.Gly230=)
NM_054012.4(ASS1):c.693C>T (p.Val231=)
NM_054012.4(ASS1):c.696T>C (p.Pro232=)
NM_054012.4(ASS1):c.710A>T (p.Asn237Ile)
NM_054012.4(ASS1):c.714C>G (p.Val238=) rs1252459333
NM_054012.4(ASS1):c.714C>T (p.Val238=) rs1252459333
NM_054012.4(ASS1):c.720T>C (p.Asp240=) rs2118839526
NM_054012.4(ASS1):c.723C>G (p.Gly241=)
NM_054012.4(ASS1):c.729C>A (p.Thr243=) rs370892743
NM_054012.4(ASS1):c.729C>G (p.Thr243=) rs370892743
NM_054012.4(ASS1):c.729C>T (p.Thr243=) rs370892743
NM_054012.4(ASS1):c.738C>T (p.Thr246=) rs2118839595
NM_054012.4(ASS1):c.742T>C (p.Leu248=)
NM_054012.4(ASS1):c.753C>T (p.Phe251=) rs2118839625
NM_054012.4(ASS1):c.759C>T (p.Tyr253=) rs1588495489
NM_054012.4(ASS1):c.760C>T (p.Leu254=)
NM_054012.4(ASS1):c.773+12C>T
NM_054012.4(ASS1):c.773+18T>C
NM_054012.4(ASS1):c.773+1G>A rs982830431
NM_054012.4(ASS1):c.773+1G>T
NM_054012.4(ASS1):c.773+20T>C
NM_054012.4(ASS1):c.773+2dup
NM_054012.4(ASS1):c.773+4A>C
NM_054012.4(ASS1):c.773+4_773+31dup rs768271017
NM_054012.4(ASS1):c.773+8T>C rs1588495530
NM_054012.4(ASS1):c.774-10C>T rs2118841498
NM_054012.4(ASS1):c.774-15C>T
NM_054012.4(ASS1):c.774-20T>C
NM_054012.4(ASS1):c.774-2A>G rs1588496214
NM_054012.4(ASS1):c.774-4A>G
NM_054012.4(ASS1):c.774-5C>G
NM_054012.4(ASS1):c.774-5C>T rs767417181
NM_054012.4(ASS1):c.774-7C>T
NM_054012.4(ASS1):c.788T>A (p.Val263Glu)
NM_054012.4(ASS1):c.789G>A (p.Val263=) rs1419381608
NM_054012.4(ASS1):c.790G>A (p.Gly264Ser)
NM_054012.4(ASS1):c.790_791del (p.Gly264fs)
NM_054012.4(ASS1):c.791G>T (p.Gly264Val) rs1846139972
NM_054012.4(ASS1):c.794G>A (p.Arg265His) rs398123131
NM_054012.4(ASS1):c.794G>T (p.Arg265Leu) rs398123131
NM_054012.4(ASS1):c.801C>T (p.Asp267=)
NM_054012.4(ASS1):c.804C>T (p.Ile268=) rs773540764
NM_054012.4(ASS1):c.807G>T (p.Val269=) rs1371433843
NM_054012.4(ASS1):c.812dup (p.Asn271fs) rs759483921
NM_054012.4(ASS1):c.813C>T (p.Asn271=) rs1361123853
NM_054012.4(ASS1):c.814C>T (p.Arg272Cys) rs762387914
NM_054012.4(ASS1):c.815G>A (p.Arg272His) rs768215008
NM_054012.4(ASS1):c.827T>C (p.Met276Thr) rs1365759588
NM_054012.4(ASS1):c.827_838+25del
NM_054012.4(ASS1):c.831G>C (p.Lys277Asn) rs2118841820
NM_054012.4(ASS1):c.832del (p.Ser278fs) rs1846142146
NM_054012.4(ASS1):c.838+12C>A
NM_054012.4(ASS1):c.838+12C>T
NM_054012.4(ASS1):c.838+14G>A
NM_054012.4(ASS1):c.838+15C>A
NM_054012.4(ASS1):c.838+16C>T
NM_054012.4(ASS1):c.838+19C>T
NM_054012.4(ASS1):c.838+23_838+34del
NM_054012.4(ASS1):c.839-19T>C
NM_054012.4(ASS1):c.839-2A>T rs2118864015
NM_054012.4(ASS1):c.839-6G>A rs766187530
NM_054012.4(ASS1):c.839-7T>C
NM_054012.4(ASS1):c.839G>T (p.Gly280Val) rs754062242
NM_054012.4(ASS1):c.840T>C (p.Gly280=) rs1588503529
NM_054012.4(ASS1):c.846C>A (p.Tyr282Ter) rs549085827
NM_054012.4(ASS1):c.846C>T (p.Tyr282=) rs549085827
NM_054012.4(ASS1):c.853C>T (p.Pro285Ser)
NM_054012.4(ASS1):c.867C>T (p.Ile289=) rs2118864084
NM_054012.4(ASS1):c.86A>G (p.Tyr29Cys) rs1457270102
NM_054012.4(ASS1):c.871T>C (p.Tyr291His)
NM_054012.4(ASS1):c.875A>G (p.His292Arg)
NM_054012.4(ASS1):c.880C>T (p.His294Tyr)
NM_054012.4(ASS1):c.882T>C (p.His294=)
NM_054012.4(ASS1):c.890T>C (p.Ile297Thr)
NM_054012.4(ASS1):c.891C>A (p.Ile297=)
NM_054012.4(ASS1):c.894G>A (p.Glu298=)
NM_054012.4(ASS1):c.895_896delinsTT (p.Ala299Phe)
NM_054012.4(ASS1):c.896C>A (p.Ala299Asp)
NM_054012.4(ASS1):c.897C>T (p.Ala299=)
NM_054012.4(ASS1):c.8G>A (p.Ser3Asn) rs1845344324
NM_054012.4(ASS1):c.914A>T (p.Glu305Val) rs398123132
NM_054012.4(ASS1):c.918G>A (p.Val306=) rs773089581
NM_054012.4(ASS1):c.919C>A (p.Arg307Ser) rs183276875
NM_054012.4(ASS1):c.931C>T (p.Gln311Ter) rs1301613270
NM_054012.4(ASS1):c.939G>C (p.Leu313=) rs2118864322
NM_054012.4(ASS1):c.942C>G (p.Gly314=)
NM_054012.4(ASS1):c.944T>A (p.Leu315Ter) rs2118864334
NM_054012.4(ASS1):c.951del (p.Phe317fs) rs775791516
NM_054012.4(ASS1):c.955G>A (p.Glu319Lys) rs1588503732
NM_054012.4(ASS1):c.958C>T (p.Leu320=) rs2118864362
NM_054012.4(ASS1):c.95_105+4del
NM_054012.4(ASS1):c.970+11C>T
NM_054012.4(ASS1):c.970+16T>C
NM_054012.4(ASS1):c.971-11C>T
NM_054012.4(ASS1):c.971-6C>A rs1238011342
NM_054012.4(ASS1):c.971G>T (p.Gly324Val) rs1554725034
NM_054012.4(ASS1):c.978del (p.Trp326fs) rs1057516338
NM_054012.4(ASS1):c.981C>T (p.His327=)
NM_054012.4(ASS1):c.983_984insGGTGAATTTG (p.Ser328fs)
NM_054012.4(ASS1):c.984C>T (p.Ser328=) rs1213934431
NM_054012.4(ASS1):c.991T>C (p.Cys331Arg) rs1055308437

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.