Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.50625346C>A | CA515391041 | ARSA | c.1329G>T (p.Leu443=) c.1071G>T (p.Leu357=) c.180+17G>T c.*62G>T (n.*62G>T) c.1443G>T (p.Leu481=) | ClinVar dbSNP |
22 | g.50625346C= | CA2410958432 | ARSA | c.1329G= (p.Leu443=) c.1071G= (p.Leu357=) c.180+17G= c.*62G= (n.*62G=) c.1443G= (p.Leu481=) | |
22 | g.50625346C>G | CA515391042 | ARSA | c.1329G>C (p.Leu443=) c.1071G>C (p.Leu357=) c.180+17G>C c.*62G>C (n.*62G>C) c.1443G>C (p.Leu481=) | |
22 | g.50625346C>T | CA10324746 | ARSA | c.1329G>A (p.Leu443=) c.1071G>A (p.Leu357=) c.180+17G>A c.*62G>A (n.*62G>A) c.1443G>A (p.Leu481=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50625347A= | CA2410958433 | ARSA | c.1328T= (p.Leu443=) c.1070T= (p.Leu357=) c.180+16T= c.*61T= (n.*61T=) c.1442T= (p.Leu481=) | |
22 | g.50625347A>C | CA412168500 | ARSA | c.1328T>G (p.Leu443Arg) c.1070T>G (p.Leu357Arg) c.180+16T>G c.*61T>G (n.*61T>G) c.1442T>G (p.Leu481Arg) | |
22 | g.50625347A>G | CA412168503 | ARSA | c.1328T>C (p.Leu443Pro) c.1070T>C (p.Leu357Pro) c.180+16T>C c.*61T>C (n.*61T>C) c.1442T>C (p.Leu481Pro) | dbSNP gnomAD v2 |
22 | g.50625347A>T | CA412168507 | ARSA | c.1328T>A (p.Leu443Gln) c.1070T>A (p.Leu357Gln) c.180+16T>A c.*61T>A (n.*61T>A) c.1442T>A (p.Leu481Gln) | |
22 | g.50625348G>A | CA515391045 | ARSA | c.1327C>T (p.Leu443=) c.1069C>T (p.Leu357=) c.180+15C>T c.*60C>T (n.*60C>T) c.1441C>T (p.Leu481=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
22 | g.50625348G>C | CA412168513 | ARSA | c.1327C>G (p.Leu443Val) c.1069C>G (p.Leu357Val) c.180+15C>G c.*60C>G (n.*60C>G) c.1441C>G (p.Leu481Val) | |
22 | g.50625348G= | CA2410958434 | ARSA | c.1327C= (p.Leu443=) c.1069C= (p.Leu357=) c.180+15C= c.*60C= (n.*60C=) c.1441C= (p.Leu481=) | |
22 | g.50625348G>T | CA412168518 | ARSA | c.1327C>A (p.Leu443Met) c.1069C>A (p.Leu357Met) c.180+15C>A c.*60C>A (n.*60C>A) c.1441C>A (p.Leu481Met) | |
22 | g.50625349G>A | CA515391048 | ARSA | c.1326C>T (p.Asn442=) c.1068C>T (p.Asn356=) c.180+14C>T c.*59C>T (n.*59C>T) c.1440C>T (p.Asn480=) | |
22 | g.50625349G>C | CA412168532 | ARSA | c.1326C>G (p.Asn442Lys) c.1068C>G (p.Asn356Lys) c.180+14C>G c.*59C>G (n.*59C>G) c.1440C>G (p.Asn480Lys) | |
22 | g.50625349G>T | CA412168544 | ARSA | c.1326C>A (p.Asn442Lys) c.1068C>A (p.Asn356Lys) c.180+14C>A c.*59C>A (n.*59C>A) c.1440C>A (p.Asn480Lys) | |
22 | g.50625350T>A | CA412168553 | ARSA | c.1325A>T (p.Asn442Ile) c.1067A>T (p.Asn356Ile) c.180+13A>T c.*58A>T (n.*58A>T) c.1439A>T (p.Asn480Ile) | |
22 | g.50625350T>C | CA10324747 | ARSA | c.1325A>G (p.Asn442Ser) c.1067A>G (p.Asn356Ser) c.180+13A>G c.*58A>G (n.*58A>G) c.1439A>G (p.Asn480Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50625350T>G | CA412168549 | ARSA | c.1325A>C (p.Asn442Thr) c.1067A>C (p.Asn356Thr) c.180+13A>C c.*58A>C (n.*58A>C) c.1439A>C (p.Asn480Thr) | |
22 | g.50625350T= | CA2410958435 | ARSA | c.1325A= (p.Asn442=) c.1067A= (p.Asn356=) c.180+13A= c.*58A= (n.*58A=) c.1439A= (p.Asn480=) | |
22 | g.50625351T>A | CA412168561 | ARSA | c.1324A>T (p.Asn442Tyr) c.1066A>T (p.Asn356Tyr) c.180+12A>T c.*57A>T (n.*57A>T) c.1438A>T (p.Asn480Tyr) | gnomAD v4 |
22 | g.50625351T>C | CA412168566 | ARSA | c.1324A>G (p.Asn442Asp) c.1066A>G (p.Asn356Asp) c.180+12A>G c.*57A>G (n.*57A>G) c.1438A>G (p.Asn480Asp) | |
22 | g.50625351T>G | CA412168569 | ARSA | c.1324A>C (p.Asn442His) c.1066A>C (p.Asn356His) c.180+12A>C c.*57A>C (n.*57A>C) c.1438A>C (p.Asn480His) | |
22 | g.50625351_50625352delinsTG | CA2410958436 | ARSA | c.1323_1324delinsCA (p.Tyr441=) c.1065_1066delinsCA (p.Tyr355=) c.180+11_180+12delinsCA c.*56_*57delinsCA (n.*56_*57delinsCA) c.1437_1438delinsCA (p.Tyr479=) | |
22 | g.50625352_50625353del | CA913088701 | ARSA | c.1323_1324del (p.Tyr441Ter) c.1065_1066del (p.Tyr355Ter) c.180+11_180+12del c.*56_*57del (n.*56_*57del) c.1437_1438del (p.Tyr479Ter) | |
22 | g.50625352del | CA658824682 | ARSA | c.1323del (p.Tyr441Ter) c.1065del (p.Tyr355Ter) c.180+11del c.*56del (n.*56del) c.1437del (p.Tyr479Ter) | ClinVar dbSNP |
22 | g.50625352G>A | CA515391057 | ARSA | c.1323C>T (p.Tyr441=) c.1065C>T (p.Tyr355=) c.180+11C>T c.*56C>T (n.*56C>T) c.1437C>T (p.Tyr479=) | |
22 | g.50625352G>C | CA412168576 | ARSA | c.1323C>G (p.Tyr441Ter) c.1065C>G (p.Tyr355Ter) c.180+11C>G c.*56C>G (n.*56C>G) c.1437C>G (p.Tyr479Ter) | |
22 | g.50625352G>T | CA412168579 | ARSA | c.1323C>A (p.Tyr441Ter) c.1065C>A (p.Tyr355Ter) c.180+11C>A c.*56C>A (n.*56C>A) c.1437C>A (p.Tyr479Ter) | |
22 | g.50625353T>A | CA412168590 | ARSA | c.1322A>T (p.Tyr441Phe) c.1064A>T (p.Tyr355Phe) c.180+10A>T c.*55A>T (n.*55A>T) c.1436A>T (p.Tyr479Phe) | |
22 | g.50625353T>C | CA412168585 | ARSA | c.1322A>G (p.Tyr441Cys) c.1064A>G (p.Tyr355Cys) c.180+10A>G c.*55A>G (n.*55A>G) c.1436A>G (p.Tyr479Cys) | |
22 | g.50625353T>G | CA412168587 | ARSA | c.1322A>C (p.Tyr441Ser) c.1064A>C (p.Tyr355Ser) c.180+10A>C c.*55A>C (n.*55A>C) c.1436A>C (p.Tyr479Ser) | |
22 | g.50625354A= | CA2410958437 | ARSA | c.1321T= (p.Tyr441=) c.1063T= (p.Tyr355=) c.180+9T= c.*54T= (n.*54T=) c.1435T= (p.Tyr479=) | |
22 | g.50625354A>C | CA412168597 | ARSA | c.1321T>G (p.Tyr441Asp) c.1063T>G (p.Tyr355Asp) c.180+9T>G c.*54T>G (n.*54T>G) c.1435T>G (p.Tyr479Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
22 | g.50625354A>G | CA412168600 | ARSA | c.1321T>C (p.Tyr441His) c.1063T>C (p.Tyr355His) c.180+9T>C c.*54T>C (n.*54T>C) c.1435T>C (p.Tyr479His) | |
22 | g.50625354A>T | CA412168603 | ARSA | c.1321T>A (p.Tyr441Asn) c.1063T>A (p.Tyr355Asn) c.180+9T>A c.*54T>A (n.*54T>A) c.1435T>A (p.Tyr479Asn) | |
22 | g.50625355G>A | CA515391063 | ARSA | c.1320C>T (p.Asn440=) c.1062C>T (p.Asn354=) c.180+8C>T c.*53C>T (n.*53C>T) c.1434C>T (p.Asn478=) | |
22 | g.50625355G>C | CA412168608 | ARSA | c.1320C>G (p.Asn440Lys) c.1062C>G (p.Asn354Lys) c.180+8C>G c.*53C>G (n.*53C>G) c.1434C>G (p.Asn478Lys) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
22 | g.50625355G= | CA2410958438 | ARSA | c.1320C= (p.Asn440=) c.1062C= (p.Asn354=) c.180+8C= c.*53C= (n.*53C=) c.1434C= (p.Asn478=) | |
22 | g.50625355G>T | CA412168613 | ARSA | c.1320C>A (p.Asn440Lys) c.1062C>A (p.Asn354Lys) c.180+8C>A c.*53C>A (n.*53C>A) c.1434C>A (p.Asn478Lys) | |
22 | g.50625356T>A | CA412168617 | ARSA | c.1319A>T (p.Asn440Ile) c.1061A>T (p.Asn354Ile) c.180+7A>T c.*52A>T (n.*52A>T) c.1433A>T (p.Asn478Ile) | |
22 | g.50625356T>C | CA412168622 | ARSA | c.1319A>G (p.Asn440Ser) c.1061A>G (p.Asn354Ser) c.180+7A>G c.*52A>G (n.*52A>G) c.1433A>G (p.Asn478Ser) | |
22 | g.50625356T>G | CA412168621 | ARSA | c.1319A>C (p.Asn440Thr) c.1061A>C (p.Asn354Thr) c.180+7A>C c.*52A>C (n.*52A>C) c.1433A>C (p.Asn478Thr) | |
22 | g.50625357T>A | CA412168626 | ARSA | c.1318A>T (p.Asn440Tyr) c.1060A>T (p.Asn354Tyr) c.180+6A>T c.*51A>T (n.*51A>T) c.1432A>T (p.Asn478Tyr) | |
22 | g.50625357T>C | CA412168633 | ARSA | c.1318A>G (p.Asn440Asp) c.1060A>G (p.Asn354Asp) c.180+6A>G c.*51A>G (n.*51A>G) c.1432A>G (p.Asn478Asp) | |
22 | g.50625357T>G | CA412168630 | ARSA | c.1318A>C (p.Asn440His) c.1060A>C (p.Asn354His) c.180+6A>C c.*51A>C (n.*51A>C) c.1432A>C (p.Asn478His) | |
22 | g.50625358C>A | CA412168634 | ARSA | c.1317G>T (p.Glu439Asp) c.1059G>T (p.Glu353Asp) c.180+5G>T c.*50G>T (n.*50G>T) c.1431G>T (p.Glu477Asp) | |
22 | g.50625358C>G | CA412168635 | ARSA | c.1317G>C (p.Glu439Asp) c.1059G>C (p.Glu353Asp) c.180+5G>C c.*50G>C (n.*50G>C) c.1431G>C (p.Glu477Asp) | |
22 | g.50625358C>T | CA515391076 | ARSA | c.1317G>A (p.Glu439=) c.1059G>A (p.Glu353=) c.180+5G>A c.*50G>A (n.*50G>A) c.1431G>A (p.Glu477=) | ClinVar dbSNP |
22 | g.50625359T>A | CA412168636 | ARSA | c.1316A>T (p.Glu439Val) c.1058A>T (p.Glu353Val) c.180+4A>T c.*49A>T (n.*49A>T) c.1430A>T (p.Glu477Val) | |
22 | g.50625359T>C | CA412168638 | ARSA | c.1316A>G (p.Glu439Gly) c.1058A>G (p.Glu353Gly) c.180+4A>G c.*49A>G (n.*49A>G) c.1430A>G (p.Glu477Gly) |