ClinVar Miner

List of variants reported as likely benign for Citrullinemia

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 353
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HGVS dbSNP gnomAD frequency
NM_054012.4(ASS1):c.622A>G (p.Thr208Ala) rs62637575 0.00277
NM_054012.4(ASS1):c.420+13T>G rs201883474 0.00099
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_014251.3(SLC25A13):c.1230A>C (p.Thr410=) rs150021522 0.00032
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.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.765C>T (p.Asn255=) rs375579096 0.00020
NM_054012.4(ASS1):c.330G>A (p.Gly110=) rs780445340 0.00015
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.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.1056C>T (p.Ser352=) rs766889925 0.00008
NM_054012.4(ASS1):c.175-5C>T rs747058030 0.00008
NM_054012.4(ASS1):c.174+10G>A rs371597908 0.00007
NM_014251.3(SLC25A13):c.1751-4_1751-3insT rs765170811 0.00006
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_014251.3(SLC25A13):c.960A>G (p.Pro320=) rs765358773 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.105+10C>T rs1010509460 0.00004
NM_054012.4(ASS1):c.1059C>T (p.Val353=) rs759769412 0.00004
NM_054012.4(ASS1):c.348C>T (p.His116=) rs770688393 0.00004
NM_054012.4(ASS1):c.421-8A>C rs764424984 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.90C>T (p.Asp30=) rs371519061 0.00004
NM_054012.4(ASS1):c.1057G>A (p.Val353Ile) rs754285392 0.00003
NM_054012.4(ASS1):c.132C>T (p.Phe44=) rs761408245 0.00003
NM_054012.4(ASS1):c.175-4G>A rs370817871 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.688+10C>T rs890497211 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.1127+15C>T rs1057523862 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.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.930A>G (p.Lys310=) rs200219927 0.00002
NM_054012.4(ASS1):c.966T>C (p.Tyr322=) rs750851227 0.00002
NM_054012.4(ASS1):c.1014C>T (p.Ile338=) rs749554993 0.00001
NM_054012.4(ASS1):c.105+14C>T rs750278093 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.1083C>T (p.Leu361=) rs78564724 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.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.183T>C (p.Ile61=) rs1036284939 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.261C>T (p.Tyr87=) rs749648285 0.00001
NM_054012.4(ASS1):c.315C>T (p.Ile105=) rs953220613 0.00001
NM_054012.4(ASS1):c.369C>T (p.Asn123=) rs761616623 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.423C>G (p.Val141=) rs887468647 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.54G>A (p.Ser18=) rs768923973 0.00001
NM_054012.4(ASS1):c.561C>T (p.His187=) rs1403877099 0.00001
NM_054012.4(ASS1):c.566+9C>A rs1445034997 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.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.711C>T (p.Asn237=) rs779981831 0.00001
NM_054012.4(ASS1):c.771C>T (p.Val257=) rs547904731 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.891C>T (p.Ile297=) rs200900381 0.00001
NM_054012.4(ASS1):c.960G>A (p.Leu320=) rs752064358 0.00001
NM_054012.4(ASS1):c.990G>A (p.Glu330=) rs746549187 0.00001
NM_014251.3(SLC25A13):c.306T>C (p.Ala102=) rs565008080
NM_054012.4(ASS1):c.1020G>A (p.Lys340=)
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.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.1062C>G (p.Leu354=) rs763822587
NM_054012.4(ASS1):c.1062C>T (p.Leu354=) rs763822587
NM_054012.4(ASS1):c.1077C>T (p.Tyr359=)
NM_054012.4(ASS1):c.1086C>T (p.Gly362=)
NM_054012.4(ASS1):c.1104T>C (p.Ser368=)
NM_054012.4(ASS1):c.1110C>T (p.Tyr370=) rs1588508629
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.1128-7C>T rs1846686034
NM_054012.4(ASS1):c.1137G>A (p.Val379=)
NM_054012.4(ASS1):c.1149T>C (p.Tyr383=)
NM_054012.4(ASS1):c.1152G>A (p.Glu384=) rs2118893688
NM_054012.4(ASS1):c.1161T>C (p.Asp387=) rs1193686175
NM_054012.4(ASS1):c.1164C>T (p.Ala388=)
NM_054012.4(ASS1):c.1167C>G (p.Thr389=) rs772796860
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>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.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.1194-8G>A rs2118897971
NM_054012.4(ASS1):c.1194-9G>T
NM_054012.4(ASS1):c.1200G>A (p.Lys400=)
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.153A>G (p.Ala51=)
NM_054012.4(ASS1):c.159G>A (p.Lys53=) rs2131869324
NM_054012.4(ASS1):c.165G>T (p.Gly55=) rs146333243
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+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.186G>A (p.Glu62=)
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.207G>A (p.Val69=) rs2131873972
NM_054012.4(ASS1):c.213G>A (p.Glu71=) rs373501531
NM_054012.4(ASS1):c.234G>A (p.Gln78=)
NM_054012.4(ASS1):c.258C>T (p.Arg86=)
NM_054012.4(ASS1):c.264C>T (p.Leu88=)
NM_054012.4(ASS1):c.267G>C (p.Leu89=)
NM_054012.4(ASS1):c.273C>G (p.Thr91=)
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.318C>T (p.Ala106=)
NM_054012.4(ASS1):c.322C>A (p.Arg108=) rs143405567
NM_054012.4(ASS1):c.324G>A (p.Arg108=)
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+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.364-7A>C
NM_054012.4(ASS1):c.366G>T (p.Gly122=)
NM_054012.4(ASS1):c.378C>G (p.Val126=)
NM_054012.4(ASS1):c.399C>T (p.Tyr133=) rs766423479
NM_054012.4(ASS1):c.403C>T (p.Leu135=)
NM_054012.4(ASS1):c.408C>A (p.Ala136=)
NM_054012.4(ASS1):c.408C>T (p.Ala136=) rs765880041
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>G
NM_054012.4(ASS1):c.420+19C>A rs2131879768
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.421-7T>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.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.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.462C>T (p.Phe154=)
NM_054012.4(ASS1):c.471C>T (p.Arg157=)
NM_054012.4(ASS1):c.486G>A (p.Glu162=)
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+20C>G
NM_054012.4(ASS1):c.495+20C>T
NM_054012.4(ASS1):c.495+7C>T
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.496-5T>C
NM_054012.4(ASS1):c.496-7C>G
NM_054012.4(ASS1):c.516G>C (p.Pro172=)
NM_054012.4(ASS1):c.51C>T (p.Thr17=) rs1045437120
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.576T>G (p.Ala192=)
NM_054012.4(ASS1):c.579A>G (p.Gly193=)
NM_054012.4(ASS1):c.582C>T (p.Ile194=) rs2131887137
NM_054012.4(ASS1):c.585G>A (p.Leu195=) rs2131887144
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+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.598-7T>C
NM_054012.4(ASS1):c.598-9T>G
NM_054012.4(ASS1):c.603A>G (p.Gln201=)
NM_054012.4(ASS1):c.60C>T (p.Ile20=)
NM_054012.4(ASS1):c.618C>T (p.Leu206=) rs2118832086
NM_054012.4(ASS1):c.621C>T (p.Tyr207=) rs2118832096
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.648C>T (p.Ala216=)
NM_054012.4(ASS1):c.651C>A (p.Pro217=)
NM_054012.4(ASS1):c.654C>T (p.Asn218=) rs1846035986
NM_054012.4(ASS1):c.663C>T (p.Asp221=)
NM_054012.4(ASS1):c.669C>G (p.Leu223=)
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.689-10C>T
NM_054012.4(ASS1):c.689-13C>T
NM_054012.4(ASS1):c.689-4C>T rs756916286
NM_054012.4(ASS1):c.689-9C>G
NM_054012.4(ASS1):c.693C>T (p.Val231=)
NM_054012.4(ASS1):c.696T>C (p.Pro232=)
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+20T>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.774-4A>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.789G>A (p.Val263=) rs1419381608
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.813C>T (p.Asn271=) rs1361123853
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.839-7T>C
NM_054012.4(ASS1):c.840T>C (p.Gly280=) rs1588503529
NM_054012.4(ASS1):c.846C>T (p.Tyr282=) rs549085827
NM_054012.4(ASS1):c.867C>T (p.Ile289=) rs2118864084
NM_054012.4(ASS1):c.882T>C (p.His294=)
NM_054012.4(ASS1):c.891C>A (p.Ile297=)
NM_054012.4(ASS1):c.894G>A (p.Glu298=)
NM_054012.4(ASS1):c.897C>T (p.Ala299=)
NM_054012.4(ASS1):c.918G>A (p.Val306=) rs773089581
NM_054012.4(ASS1):c.939G>C (p.Leu313=) rs2118864322
NM_054012.4(ASS1):c.942C>G (p.Gly314=)
NM_054012.4(ASS1):c.958C>T (p.Leu320=) rs2118864362
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.981C>T (p.His327=)
NM_054012.4(ASS1):c.984C>T (p.Ser328=) rs1213934431

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