UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | |
| 22 | g.50625359T>G | CA412168641 | ARSA | c.1316A>C (p.Glu439Ala) c.1058A>C (p.Glu353Ala) c.180+4A>C c.*49A>C (n.*49A>C) c.1430A>C (p.Glu477Ala) | |
| 22 | g.50625360C>A | CA412168646 | ARSA | c.1315G>T (p.Glu439Ter) c.1057G>T (p.Glu353Ter) c.180+3G>T c.*48G>T (n.*48G>T) c.1429G>T (p.Glu477Ter) | |
| 22 | g.50625360C>G | CA412168654 | ARSA | c.1315G>C (p.Glu439Gln) c.1057G>C (p.Glu353Gln) c.180+3G>C c.*48G>C (n.*48G>C) c.1429G>C (p.Glu477Gln) | |
| 22 | g.50625360C>T | CA412168659 | ARSA | c.1315G>A (p.Glu439Lys) c.1057G>A (p.Glu353Lys) c.180+3G>A c.*48G>A (n.*48G>A) c.1429G>A (p.Glu477Lys) | |
| 22 | g.50625361_50625362del | CA2657590893 | ARSA | c.1314_1315del (p.Asn440LeufsTer?) c.1056_1057del (p.Asn354LeufsTer?) c.180+2_180+3del c.*47_*48del (n.*47_*48del) c.1428_1429del (p.Asn478LeufsTer?) | ClinVar gnomAD v4 |
| 22 | g.50625361A>C | CA515391084 | ARSA | c.1314T>G (p.Gly438=) c.1056T>G (p.Gly352=) c.180+2T>G c.*47T>G (n.*47T>G) c.1428T>G (p.Gly476=) | gnomAD v4 |
| 22 | g.50625361A>G | CA515391085 | ARSA | c.1314T>C (p.Gly438=) c.1056T>C (p.Gly352=) c.180+2T>C c.*47T>C (n.*47T>C) c.1428T>C (p.Gly476=) | |
| 22 | g.50625361A>T | CA515391086 | ARSA | c.1314T>A (p.Gly438=) c.1056T>A (p.Gly352=) c.180+2T>A c.*47T>A (n.*47T>A) c.1428T>A (p.Gly476=) | |
| 22 | g.50625362C>A | CA10324748 | ARSA | c.1313G>T (p.Gly438Val) c.1055G>T (p.Gly352Val) c.180+1G>T c.*46G>T (n.*46G>T) c.1427G>T (p.Gly476Val) | dbSNP ExAC gnomAD v2 |
| 22 | g.50625362C= | CA2410958439 | ARSA | c.1313G= (p.Gly438=) c.1055G= (p.Gly352=) c.180+1G= c.*46G= (n.*46G=) c.1427G= (p.Gly476=) | |
| 22 | g.50625362C>G | CA412168664 | ARSA | c.1313G>C (p.Gly438Ala) c.1055G>C (p.Gly352Ala) c.180+1G>C c.*46G>C (n.*46G>C) c.1427G>C (p.Gly476Ala) | |
| 22 | g.50625362C>T | CA412168665 | ARSA | c.1313G>A (p.Gly438Asp) c.1055G>A (p.Gly352Asp) c.180+1G>A c.*46G>A (n.*46G>A) c.1427G>A (p.Gly476Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50625363C>A | CA412168672 | ARSA | c.1312G>T (p.Gly438Cys) c.1054G>T (p.Gly352Cys) c.180G>T c.*45G>T (n.*45G>T) c.1426G>T (p.Gly476Cys) | |
| 22 | g.50625363C= | CA2410958440 | ARSA | c.1312G= (p.Gly438=) c.1054G= (p.Gly352=) c.180G= c.*45G= (n.*45G=) c.1426G= (p.Gly476=) | |
| 22 | g.50625363C>G | CA412168670 | ARSA | c.1312G>C (p.Gly438Arg) c.1054G>C (p.Gly352Arg) c.180G>C c.*45G>C (n.*45G>C) c.1426G>C (p.Gly476Arg) | |
| 22 | g.50625363C>T | CA10324749 | ARSA | c.1312G>A (p.Gly438Ser) c.1054G>A (p.Gly352Ser) c.180G>A c.*45G>A (n.*45G>A) c.1426G>A (p.Gly476Ser) | dbSNP ExAC gnomAD v2 |
| 22 | g.50625364A= | CA2410958441 | ARSA | c.1311T= (p.Pro437=) c.1053T= (p.Pro351=) c.179T= c.*44T= (n.*44T=) c.1425T= (p.Pro475=) | |
| 22 | g.50625364A>C | CA515391092 | ARSA | c.1311T>G (p.Pro437=) c.1053T>G (p.Pro351=) c.179T>G c.*44T>G (n.*44T>G) c.1425T>G (p.Pro475=) | |
| 22 | g.50625364A>G | CA515391093 | ARSA | c.1311T>C (p.Pro437=) c.1053T>C (p.Pro351=) c.179T>C c.*44T>C (n.*44T>C) c.1425T>C (p.Pro475=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625364A>T | CA515391094 | ARSA | c.1311T>A (p.Pro437=) c.1053T>A (p.Pro351=) c.179T>A c.*44T>A (n.*44T>A) c.1425T>A (p.Pro475=) | |
| 22 | g.50625365G>A | CA412168676 | ARSA | c.1310C>T (p.Pro437Leu) c.1052C>T (p.Pro351Leu) c.178C>T c.*43C>T (n.*43C>T) c.1424C>T (p.Pro475Leu) | |
| 22 | g.50625365G>C | CA412168685 | ARSA | c.1310C>G (p.Pro437Arg) c.1052C>G (p.Pro351Arg) c.178C>G c.*43C>G (n.*43C>G) c.1424C>G (p.Pro475Arg) | |
| 22 | g.50625365G>T | CA412168690 | ARSA | c.1310C>A (p.Pro437His) c.1052C>A (p.Pro351His) c.178C>A c.*43C>A (n.*43C>A) c.1424C>A (p.Pro475His) | |
| 22 | g.50625366G>A | CA325531219 | ARSA | c.1309C>T (p.Pro437Ser) c.1051C>T (p.Pro351Ser) c.177C>T c.*42C>T (n.*42C>T) c.1423C>T (p.Pro475Ser) | dbSNP gnomAD v4 |
| 22 | g.50625366G>C | CA412168705 | ARSA | c.1309C>G (p.Pro437Ala) c.1051C>G (p.Pro351Ala) c.177C>G c.*42C>G (n.*42C>G) c.1423C>G (p.Pro475Ala) | |
| 22 | g.50625366G= | CA2410958442 | ARSA | c.1309C= (p.Pro437=) c.1051C= (p.Pro351=) c.177C= c.*42C= (n.*42C=) c.1423C= (p.Pro475=) | |
| 22 | g.50625366G>T | CA10324750 | ARSA | c.1309C>A (p.Pro437Thr) c.1051C>A (p.Pro351Thr) c.177C>A c.*42C>A (n.*42C>A) c.1423C>A (p.Pro475Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50625367G>A | CA325531221 | ARSA | c.1308C>T (p.Asp436=) c.1050C>T (p.Asp350=) c.176C>T c.*41C>T (n.*41C>T) c.1422C>T (p.Asp474=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625367G>C | CA412168733 | ARSA | c.1308C>G (p.Asp436Glu) c.1050C>G (p.Asp350Glu) c.176C>G c.*41C>G (n.*41C>G) c.1422C>G (p.Asp474Glu) | |
| 22 | g.50625367G= | CA2410958443 | ARSA | c.1308C= (p.Asp436=) c.1050C= (p.Asp350=) c.176C= c.*41C= (n.*41C=) c.1422C= (p.Asp474=) | |
| 22 | g.50625367G>T | CA412168736 | ARSA | c.1308C>A (p.Asp436Glu) c.1050C>A (p.Asp350Glu) c.176C>A c.*41C>A (n.*41C>A) c.1422C>A (p.Asp474Glu) | |
| 22 | g.50625368T>A | CA412168740 | ARSA | c.1307A>T (p.Asp436Val) c.1049A>T (p.Asp350Val) c.175A>T c.*40A>T (n.*40A>T) c.1421A>T (p.Asp474Val) | |
| 22 | g.50625368T>C | CA412168743 | ARSA | c.1307A>G (p.Asp436Gly) c.1049A>G (p.Asp350Gly) c.175A>G c.*40A>G (n.*40A>G) c.1421A>G (p.Asp474Gly) | ClinVar |
| 22 | g.50625368T>G | CA412168747 | ARSA | c.1307A>C (p.Asp436Ala) c.1049A>C (p.Asp350Ala) c.175A>C c.*40A>C (n.*40A>C) c.1421A>C (p.Asp474Ala) | |
| 22 | g.50625369C>A | CA412168755 | ARSA | c.1306G>T (p.Asp436Tyr) c.1048G>T (p.Asp350Tyr) c.174G>T c.*39G>T (n.*39G>T) c.1420G>T (p.Asp474Tyr) | |
| 22 | g.50625369C= | CA2410958444 | ARSA | c.1306G= (p.Asp436=) c.1048G= (p.Asp350=) c.174G= c.*39G= (n.*39G=) c.1420G= (p.Asp474=) | |
| 22 | g.50625369C>G | CA412168754 | ARSA | c.1306G>C (p.Asp436His) c.1048G>C (p.Asp350His) c.174G>C c.*39G>C (n.*39G>C) c.1420G>C (p.Asp474His) | |
| 22 | g.50625369C>T | CA325531222 | ARSA | c.1306G>A (p.Asp436Asn) c.1048G>A (p.Asp350Asn) c.174G>A c.*39G>A (n.*39G>A) c.1420G>A (p.Asp474Asn) | dbSNP |
| 22 | g.50625370C>A | CA412168756 | ARSA | c.1305G>T (p.Lys435Asn) c.1047G>T (p.Lys349Asn) c.173G>T c.*38G>T (n.*38G>T) c.1419G>T (p.Lys473Asn) | |
| 22 | g.50625370C>G | CA412168759 | ARSA | c.1305G>C (p.Lys435Asn) c.1047G>C (p.Lys349Asn) c.173G>C c.*38G>C (n.*38G>C) c.1419G>C (p.Lys473Asn) | |
| 22 | g.50625370C>T | CA515391107 | ARSA | c.1305G>A (p.Lys435=) c.1047G>A (p.Lys349=) c.173G>A c.*38G>A (n.*38G>A) c.1419G>A (p.Lys473=) | ClinVar dbSNP gnomAD v4 |
| 22 | g.50625371T>A | CA412168763 | ARSA | c.1304A>T (p.Lys435Met) c.1046A>T (p.Lys349Met) c.172A>T c.*37A>T (n.*37A>T) c.1418A>T (p.Lys473Met) | |
| 22 | g.50625371T>C | CA412168766 | ARSA | c.1304A>G (p.Lys435Arg) c.1046A>G (p.Lys349Arg) c.172A>G c.*37A>G (n.*37A>G) c.1418A>G (p.Lys473Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50625371T>G | CA412168778 | ARSA | c.1304A>C (p.Lys435Thr) c.1046A>C (p.Lys349Thr) c.172A>C c.*37A>C (n.*37A>C) c.1418A>C (p.Lys473Thr) | |
| 22 | g.50625371T= | CA2410958445 | ARSA | c.1304A= (p.Lys435=) c.1046A= (p.Lys349=) c.172A= c.*37A= (n.*37A=) c.1418A= (p.Lys473=) | |
| 22 | g.50625372T>A | CA412168783 | ARSA | c.1303A>T (p.Lys435Ter) c.1045A>T (p.Lys349Ter) c.171A>T c.*36A>T (n.*36A>T) c.1417A>T (p.Lys473Ter) | |
| 22 | g.50625372T>C | CA412168788 | ARSA | c.1303A>G (p.Lys435Glu) c.1045A>G (p.Lys349Glu) c.171A>G c.*36A>G (n.*36A>G) c.1417A>G (p.Lys473Glu) | gnomAD v4 |
| 22 | g.50625372T>G | CA412168792 | ARSA | c.1303A>C (p.Lys435Gln) c.1045A>C (p.Lys349Gln) c.171A>C c.*36A>C (n.*36A>C) c.1417A>C (p.Lys473Gln) | |
| 22 | g.50625373G>A | CA515391114 | ARSA | c.1302C>T (p.Ser434=) c.1044C>T (p.Ser348=) c.170C>T c.*35C>T (n.*35C>T) c.1416C>T (p.Ser472=) | COSMIC |
| 22 | g.50625373G>C | CA515391116 | ARSA | c.1302C>G (p.Ser434=) c.1044C>G (p.Ser348=) c.170C>G c.*35C>G (n.*35C>G) c.1416C>G (p.Ser472=) | |
| 22 | g.50625373G>T | CA515391117 | ARSA | c.1302C>A (p.Ser434=) c.1044C>A (p.Ser348=) c.170C>A c.*35C>A (n.*35C>A) c.1416C>A (p.Ser472=) | |
| 22 | g.50625374G>A | CA412168796 | ARSA | c.1301C>T (p.Ser434Phe) c.1043C>T (p.Ser348Phe) c.169C>T c.*34C>T (n.*34C>T) c.1415C>T (p.Ser472Phe) | |
| 22 | g.50625374G>C | CA412168799 | ARSA | c.1301C>G (p.Ser434Cys) c.1043C>G (p.Ser348Cys) c.169C>G c.*34C>G (n.*34C>G) c.1415C>G (p.Ser472Cys) | gnomAD v4 |
| 22 | g.50625374G>T | CA412168802 | ARSA | c.1301C>A (p.Ser434Tyr) c.1043C>A (p.Ser348Tyr) c.169C>A c.*34C>A (n.*34C>A) c.1415C>A (p.Ser472Tyr) | |
| 22 | g.50625375A>C | CA412168810 | ARSA | c.1300T>G (p.Ser434Ala) c.1042T>G (p.Ser348Ala) c.168T>G c.*33T>G (n.*33T>G) c.1414T>G (p.Ser472Ala) | |
| 22 | g.50625375A>G | CA412168808 | ARSA | c.1300T>C (p.Ser434Pro) c.1042T>C (p.Ser348Pro) c.168T>C c.*33T>C (n.*33T>C) c.1414T>C (p.Ser472Pro) | |
| 22 | g.50625375A>T | CA412168806 | ARSA | c.1300T>A (p.Ser434Thr) c.1042T>A (p.Ser348Thr) c.168T>A c.*33T>A (n.*33T>A) c.1414T>A (p.Ser472Thr) | |
| 22 | g.50625376C>A | CA515391128 | ARSA | c.1299G>T (p.Leu433=) c.1041G>T (p.Leu347=) c.167G>T c.*32G>T (n.*32G>T) c.1413G>T (p.Leu471=) | |
| 22 | g.50625376C= | CA2410958446 | ARSA | c.1299G= (p.Leu433=) c.1041G= (p.Leu347=) c.167G= c.*32G= (n.*32G=) c.1413G= (p.Leu471=) | |
| 22 | g.50625376C>G | CA515391129 | ARSA | c.1299G>C (p.Leu433=) c.1041G>C (p.Leu347=) c.167G>C c.*32G>C (n.*32G>C) c.1413G>C (p.Leu471=) | |
| 22 | g.50625376C>T | CA515391126 | ARSA | c.1299G>A (p.Leu433=) c.1041G>A (p.Leu347=) c.167G>A c.*32G>A (n.*32G>A) c.1413G>A (p.Leu471=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50625377A>C | CA412168813 | ARSA | c.1298T>G (p.Leu433Arg) c.1040T>G (p.Leu347Arg) c.166T>G c.*31T>G (n.*31T>G) c.1412T>G (p.Leu471Arg) | ClinVar dbSNP |
| 22 | g.50625377A>G | CA412168815 | ARSA | c.1298T>C (p.Leu433Pro) c.1040T>C (p.Leu347Pro) c.166T>C c.*31T>C (n.*31T>C) c.1412T>C (p.Leu471Pro) | |
| 22 | g.50625377A>T | CA412168817 | ARSA | c.1298T>A (p.Leu433Gln) c.1040T>A (p.Leu347Gln) c.166T>A c.*31T>A (n.*31T>A) c.1412T>A (p.Leu471Gln) | |
| 22 | g.50625378G>A | CA515391130 | ARSA | c.1297C>T (p.Leu433=) c.1039C>T (p.Leu347=) c.165C>T c.*30C>T (n.*30C>T) c.1411C>T (p.Leu471=) | ClinVar |
| 22 | g.50625378G>C | CA10324751 | ARSA | c.1297C>G (p.Leu433Val) c.1039C>G (p.Leu347Val) c.165C>G c.*30C>G (n.*30C>G) c.1411C>G (p.Leu471Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625378G= | CA2410958447 | ARSA | c.1297C= (p.Leu433=) c.1039C= (p.Leu347=) c.165C= c.*30C= (n.*30C=) c.1411C= (p.Leu471=) | |
| 22 | g.50625378G>T | CA412168819 | ARSA | c.1297C>A (p.Leu433Met) c.1039C>A (p.Leu347Met) c.165C>A c.*30C>A (n.*30C>A) c.1411C>A (p.Leu471Met) | |
| 22 | g.50625379G>A | CA515391132 | ARSA | c.1296C>T (p.Asp432=) c.1038C>T (p.Asp346=) c.164C>T c.*29C>T (n.*29C>T) c.1410C>T (p.Asp470=) | |
| 22 | g.50625379G>C | CA412168821 | ARSA | c.1296C>G (p.Asp432Glu) c.1038C>G (p.Asp346Glu) c.164C>G c.*29C>G (n.*29C>G) c.1410C>G (p.Asp470Glu) | |
| 22 | g.50625379G= | CA2410958448 | ARSA | c.1296C= (p.Asp432=) c.1038C= (p.Asp346=) c.164C= c.*29C= (n.*29C=) c.1410C= (p.Asp470=) | |
| 22 | g.50625379G>T | CA412168824 | ARSA | c.1296C>A (p.Asp432Glu) c.1038C>A (p.Asp346Glu) c.164C>A c.*29C>A (n.*29C>A) c.1410C>A (p.Asp470Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50625380T>A | CA412168826 | ARSA | c.1295A>T (p.Asp432Val) c.1037A>T (p.Asp346Val) c.163A>T c.*28A>T (n.*28A>T) c.1409A>T (p.Asp470Val) | |
| 22 | g.50625380T>C | CA412168828 | ARSA | c.1295A>G (p.Asp432Gly) c.1037A>G (p.Asp346Gly) c.163A>G c.*28A>G (n.*28A>G) c.1409A>G (p.Asp470Gly) | |
| 22 | g.50625380T>G | CA412168829 | ARSA | c.1295A>C (p.Asp432Ala) c.1037A>C (p.Asp346Ala) c.163A>C c.*28A>C (n.*28A>C) c.1409A>C (p.Asp470Ala) | |
| 22 | g.50625381C>A | CA10324752 | ARSA | c.1294G>T (p.Asp432Tyr) c.1036G>T (p.Asp346Tyr) c.162G>T c.*27G>T (n.*27G>T) c.1408G>T (p.Asp470Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50625381C= | CA2410958449 | ARSA | c.1294G= (p.Asp432=) c.1036G= (p.Asp346=) c.162G= c.*27G= (n.*27G=) c.1408G= (p.Asp470=) | |
| 22 | g.50625381C>G | CA412168831 | ARSA | c.1294G>C (p.Asp432His) c.1036G>C (p.Asp346His) c.162G>C c.*27G>C (n.*27G>C) c.1408G>C (p.Asp470His) | |
| 22 | g.50625381C>T | CA412168832 | ARSA | c.1294G>A (p.Asp432Asn) c.1036G>A (p.Asp346Asn) c.162G>A c.*27G>A (n.*27G>A) c.1408G>A (p.Asp470Asn) | ClinVar gnomAD v4 |
| 22 | g.50625382A= | CA2410958450 | ARSA | c.1293T= (p.Tyr431=) c.1035T= (p.Tyr345=) c.161T= c.*26T= (n.*26T=) c.1407T= (p.Tyr469=) | |
| 22 | g.50625382A>C | CA412168837 | ARSA | c.1293T>G (p.Tyr431Ter) c.1035T>G (p.Tyr345Ter) c.161T>G c.*26T>G (n.*26T>G) c.1407T>G (p.Tyr469Ter) | dbSNP |
| 22 | g.50625382A>G | CA515391141 | ARSA | c.1293T>C (p.Tyr431=) c.1035T>C (p.Tyr345=) c.161T>C c.*26T>C (n.*26T>C) c.1407T>C (p.Tyr469=) | dbSNP |
| 22 | g.50625382A>T | CA412168835 | ARSA | c.1293T>A (p.Tyr431Ter) c.1035T>A (p.Tyr345Ter) c.161T>A c.*26T>A (n.*26T>A) c.1407T>A (p.Tyr469Ter) | ClinVar dbSNP |
| 22 | g.50625383T>A | CA412168839 | ARSA | c.1292A>T (p.Tyr431Phe) c.1034A>T (p.Tyr345Phe) c.160A>T c.*25A>T (n.*25A>T) c.1406A>T (p.Tyr469Phe) | |
| 22 | g.50625383T>C | CA412168843 | ARSA | c.1292A>G (p.Tyr431Cys) c.1034A>G (p.Tyr345Cys) c.160A>G c.*25A>G (n.*25A>G) c.1406A>G (p.Tyr469Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50625383T>G | CA218996 | ARSA | c.1292A>C (p.Tyr431Ser) c.1034A>C (p.Tyr345Ser) c.160A>C c.*25A>C (n.*25A>C) c.1406A>C (p.Tyr469Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625383T= | CA2410958451 | ARSA | c.1292A= (p.Tyr431=) c.1034A= (p.Tyr345=) c.160A= c.*25A= (n.*25A=) c.1406A= (p.Tyr469=) | |
| 22 | g.50625384A>C | CA412168845 | ARSA | c.1291T>G (p.Tyr431Asp) c.1033T>G (p.Tyr345Asp) c.159T>G c.*24T>G (n.*24T>G) c.1405T>G (p.Tyr469Asp) | |
| 22 | g.50625384A>G | CA412168847 | ARSA | c.1291T>C (p.Tyr431His) c.1033T>C (p.Tyr345His) c.159T>C c.*24T>C (n.*24T>C) c.1405T>C (p.Tyr469His) | |
| 22 | g.50625384A>T | CA412168851 | ARSA | c.1291T>A (p.Tyr431Asn) c.1033T>A (p.Tyr345Asn) c.159T>A c.*24T>A (n.*24T>A) c.1405T>A (p.Tyr469Asn) | |
| 22 | g.50625385G>A | CA515391146 | ARSA | c.1290C>T (p.Leu430=) c.1032C>T (p.Leu344=) c.158C>T c.*23C>T (n.*23C>T) c.1404C>T (p.Leu468=) | ClinVar dbSNP gnomAD v4 |
| 22 | g.50625385G>C | CA515391148 | ARSA | c.1290C>G (p.Leu430=) c.1032C>G (p.Leu344=) c.158C>G c.*23C>G (n.*23C>G) c.1404C>G (p.Leu468=) | |
| 22 | g.50625385G>T | CA515391149 | ARSA | c.1290C>A (p.Leu430=) c.1032C>A (p.Leu344=) c.158C>A c.*23C>A (n.*23C>A) c.1404C>A (p.Leu468=) | |
| 22 | g.50625386A= | CA2410958452 | ARSA | c.1289T= (p.Leu430=) c.1031T= (p.Leu344=) c.157T= c.*22T= (n.*22T=) c.1403T= (p.Leu468=) | |
| 22 | g.50625386A>C | CA412168855 | ARSA | c.1289T>G (p.Leu430Arg) c.1031T>G (p.Leu344Arg) c.157T>G c.*22T>G (n.*22T>G) c.1403T>G (p.Leu468Arg) | |
| 22 | g.50625386A>G | CA218994 | ARSA | c.1289T>C (p.Leu430Pro) c.1031T>C (p.Leu344Pro) c.157T>C c.*22T>C (n.*22T>C) c.1403T>C (p.Leu468Pro) | ClinVar dbSNP gnomAD v4 |
| 22 | g.50625386A>T | CA412168860 | ARSA | c.1289T>A (p.Leu430His) c.1031T>A (p.Leu344His) c.157T>A c.*22T>A (n.*22T>A) c.1403T>A (p.Leu468His) | |
| 22 | g.50625387G>A | CA10324753 | ARSA | c.1288C>T (p.Leu430Phe) c.1030C>T (p.Leu344Phe) c.156C>T c.*21C>T (n.*21C>T) c.1402C>T (p.Leu468Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50625387G>C | CA412168876 | ARSA | c.1288C>G (p.Leu430Val) c.1030C>G (p.Leu344Val) c.156C>G c.*21C>G (n.*21C>G) c.1402C>G (p.Leu468Val) | |
| 22 | g.50625387G= | CA2410958453 | ARSA | c.1288C= (p.Leu430=) c.1030C= (p.Leu344=) c.156C= c.*21C= (n.*21C=) c.1402C= (p.Leu468=) | |
| 22 | g.50625387G>T | CA412168871 | ARSA | c.1288C>A (p.Leu430Ile) c.1030C>A (p.Leu344Ile) c.156C>A c.*21C>A (n.*21C>A) c.1402C>A (p.Leu468Ile) | gnomAD v4 |
| 22 | g.50625388C>A | CA515391157 | ARSA | c.1287G>T (p.Leu429=) c.1029G>T (p.Leu343=) c.155G>T c.*20G>T (n.*20G>T) c.1401G>T (p.Leu467=) | |
| 22 | g.50625388C= | CA2410958454 | ARSA | c.1287G= (p.Leu429=) c.1029G= (p.Leu343=) c.155G= c.*20G= (n.*20G=) c.1401G= (p.Leu467=) | |
| 22 | g.50625388C>G | CA515391158 | ARSA | c.1287G>C (p.Leu429=) c.1029G>C (p.Leu343=) c.155G>C c.*20G>C (n.*20G>C) c.1401G>C (p.Leu467=) | |
| 22 | g.50625388C>T | CA515391161 | ARSA | c.1287G>A (p.Leu429=) c.1029G>A (p.Leu343=) c.155G>A c.*20G>A (n.*20G>A) c.1401G>A (p.Leu467=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50625389A= | CA2410958455 | ARSA | c.1286T= (p.Leu429=) c.1028T= (p.Leu343=) c.154T= c.*19T= (n.*19T=) c.1400T= (p.Leu467=) | |
| 22 | g.50625389A>C | CA412168881 | ARSA | c.1286T>G (p.Leu429Arg) c.1028T>G (p.Leu343Arg) c.154T>G c.*19T>G (n.*19T>G) c.1400T>G (p.Leu467Arg) | |
| 22 | g.50625389A>G | CA412168882 | ARSA | c.1286T>C (p.Leu429Pro) c.1028T>C (p.Leu343Pro) c.154T>C c.*19T>C (n.*19T>C) c.1400T>C (p.Leu467Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50625389A>T | CA412168883 | ARSA | c.1286T>A (p.Leu429Gln) c.1028T>A (p.Leu343Gln) c.154T>A c.*19T>A (n.*19T>A) c.1400T>A (p.Leu467Gln) | |
| 22 | g.50625390G>A | CA515391170 | ARSA | c.1285C>T (p.Leu429=) c.1027C>T (p.Leu343=) c.153C>T c.*18C>T (n.*18C>T) c.1399C>T (p.Leu467=) | |
| 22 | g.50625390G>C | CA412168884 | ARSA | c.1285C>G (p.Leu429Val) c.1027C>G (p.Leu343Val) c.153C>G c.*18C>G (n.*18C>G) c.1399C>G (p.Leu467Val) | |
| 22 | g.50625390G>T | CA412168886 | ARSA | c.1285C>A (p.Leu429Met) c.1027C>A (p.Leu343Met) c.153C>A c.*18C>A (n.*18C>A) c.1399C>A (p.Leu467Met) | |
| 22 | g.50625391C>A | CA515391171 | ARSA | c.1284G>T (p.Pro428=) c.1026G>T (p.Pro342=) c.152G>T c.*17G>T (n.*17G>T) c.1398G>T (p.Pro466=) | gnomAD v4 |
| 22 | g.50625391C= | CA2410958456 | ARSA | c.1284G= (p.Pro428=) c.1026G= (p.Pro342=) c.152G= c.*17G= (n.*17G=) c.1398G= (p.Pro466=) | |
| 22 | g.50625391C>G | CA515391172 | ARSA | c.1284G>C (p.Pro428=) c.1026G>C (p.Pro342=) c.152G>C c.*17G>C (n.*17G>C) c.1398G>C (p.Pro466=) | ClinVar dbSNP |
| 22 | g.50625391C>T | CA10324754 | ARSA | c.1284G>A (p.Pro428=) c.1026G>A (p.Pro342=) c.152G>A c.*17G>A (n.*17G>A) c.1398G>A (p.Pro466=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625391_50625401delinsGGGGGGGG | CA2695231023 | ARSA | c.1274_1284delinsCCCCCCCC (p.His425_Glu426delinsPro) c.1016_1026delinsCCCCCCCC (p.His339_Glu340delinsPro) c.142_152delinsCCCCCCCC c.*7_*17delinsCCCCCCCC (n.*7_*17delinsCCCCCCCC) c.1388_1398delinsCCCCCCCC (p.His463_Glu464delinsPro) | |
| 22 | g.50625392G>A | CA115956 | ARSA | c.1283C>T (p.Pro428Leu) c.1025C>T (p.Pro342Leu) c.151C>T c.*16C>T (n.*16C>T) c.1397C>T (p.Pro466Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625392G>C | CA412168897 | ARSA | c.1283C>G (p.Pro428Arg) c.1025C>G (p.Pro342Arg) c.151C>G c.*16C>G (n.*16C>G) c.1397C>G (p.Pro466Arg) | |
| 22 | g.50625392G= | CA2410958457 | ARSA | c.1283C= (p.Pro428=) c.1025C= (p.Pro342=) c.151C= c.*16C= (n.*16C=) c.1397C= (p.Pro466=) | |
| 22 | g.50625392G>T | CA412168895 | ARSA | c.1283C>A (p.Pro428Gln) c.1025C>A (p.Pro342Gln) c.151C>A c.*16C>A (n.*16C>A) c.1397C>A (p.Pro466Gln) | gnomAD v4 |
| 22 | g.50625395_50625396dup | CA2580100053 | ARSA | c.1282_1283dup (p.Leu429ArgfsTer?) c.1024_1025dup (p.Leu343ArgfsTer?) c.150_151dup c.*15_*16dup (n.*15_*16dup) c.1396_1397dup (p.Leu467ArgfsTer?) | ClinVar |
| 22 | g.50625393G>A | CA412168900 | ARSA | c.1282C>T (p.Pro428Ser) c.1024C>T (p.Pro342Ser) c.150C>T c.*15C>T (n.*15C>T) c.1396C>T (p.Pro466Ser) | ClinVar |
| 22 | g.50625393G>C | CA412168904 | ARSA | c.1282C>G (p.Pro428Ala) c.1024C>G (p.Pro342Ala) c.150C>G c.*15C>G (n.*15C>G) c.1396C>G (p.Pro466Ala) | ClinVar dbSNP |
| 22 | g.50625393G>T | CA412168907 | ARSA | c.1282C>A (p.Pro428Thr) c.1024C>A (p.Pro342Thr) c.150C>A c.*15C>A (n.*15C>A) c.1396C>A (p.Pro466Thr) | |
| 22 | g.50625394G>A | CA515391183 | ARSA | c.1281C>T (p.Pro427=) c.1023C>T (p.Pro341=) c.149C>T c.*14C>T (n.*14C>T) c.1395C>T (p.Pro465=) | gnomAD v4 |
| 22 | g.50625394G>C | CA515391184 | ARSA | c.1281C>G (p.Pro427=) c.1023C>G (p.Pro341=) c.149C>G c.*14C>G (n.*14C>G) c.1395C>G (p.Pro465=) | |
| 22 | g.50625394G>T | CA515391186 | ARSA | c.1281C>A (p.Pro427=) c.1023C>A (p.Pro341=) c.149C>A c.*14C>A (n.*14C>A) c.1395C>A (p.Pro465=) | |
| 22 | g.50625395G>A | CA412168911 | ARSA | c.1280C>T (p.Pro427Leu) c.1022C>T (p.Pro341Leu) c.148C>T c.*13C>T (n.*13C>T) c.1394C>T (p.Pro465Leu) | ClinVar gnomAD v4 |
| 22 | g.50625395G>C | CA412168913 | ARSA | c.1280C>G (p.Pro427Arg) c.1022C>G (p.Pro341Arg) c.148C>G c.*13C>G (n.*13C>G) c.1394C>G (p.Pro465Arg) | |
| 22 | g.50625395G>T | CA412168915 | ARSA | c.1280C>A (p.Pro427His) c.1022C>A (p.Pro341His) c.148C>A c.*13C>A (n.*13C>A) c.1394C>A (p.Pro465His) | |
| 22 | g.50625396G>A | CA412168917 | ARSA | c.1279C>T (p.Pro427Ser) c.1021C>T (p.Pro341Ser) c.147C>T c.*12C>T (n.*12C>T) c.1393C>T (p.Pro465Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50625396G>C | CA412168919 | ARSA | c.1279C>G (p.Pro427Ala) c.1021C>G (p.Pro341Ala) c.147C>G c.*12C>G (n.*12C>G) c.1393C>G (p.Pro465Ala) | |
| 22 | g.50625396G= | CA2410958458 | ARSA | c.1279C= (p.Pro427=) c.1021C= (p.Pro341=) c.147C= c.*12C= (n.*12C=) c.1393C= (p.Pro465=) | |
| 22 | g.50625396G>T | CA116013 | ARSA | c.1279C>A (p.Pro427Thr) c.1021C>A (p.Pro341Thr) c.147C>A c.*12C>A (n.*12C>A) c.1393C>A (p.Pro465Thr) | ClinVar dbSNP gnomAD v4 |
| 22 | g.50625397del | CA2580100055 | ARSA | c.1278del (p.Glu426AspfsTer?) c.1020del (p.Glu340AspfsTer?) c.146del c.*11del (n.*11del) c.1392del (p.Glu464AspfsTer?) | ClinVar |
| 22 | g.50625397C>A | CA412168929 | ARSA | c.1278G>T (p.Glu426Asp) c.1020G>T (p.Glu340Asp) c.146G>T c.*11G>T (n.*11G>T) c.1392G>T (p.Glu464Asp) | |
| 22 | g.50625397C>G | CA412168932 | ARSA | c.1278G>C (p.Glu426Asp) c.1020G>C (p.Glu340Asp) c.146G>C c.*11G>C (n.*11G>C) c.1392G>C (p.Glu464Asp) | |
| 22 | g.50625397C>T | CA515391192 | ARSA | c.1278G>A (p.Glu426=) c.1020G>A (p.Glu340=) c.146G>A c.*11G>A (n.*11G>A) c.1392G>A (p.Glu464=) | ClinVar dbSNP gnomAD v4 |
| 22 | g.50625397_50625400del | CA2819316120 | ARSA | c.1275_1278del (p.Glu426ProfsTer?) c.1017_1020del (p.Glu340ProfsTer?) c.143_146del c.*8_*11del (n.*8_*11del) c.1389_1392del (p.Glu464ProfsTer?) | |
| 22 | g.50625398T>A | CA412168948 | ARSA | c.1277A>T (p.Glu426Val) c.1019A>T (p.Glu340Val) c.145A>T c.*10A>T (n.*10A>T) c.1391A>T (p.Glu464Val) | |
| 22 | g.50625398T>C | CA10324755 | ARSA | c.1277A>G (p.Glu426Gly) c.1019A>G (p.Glu340Gly) c.145A>G c.*10A>G (n.*10A>G) c.1391A>G (p.Glu464Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625398T>G | CA412168949 | ARSA | c.1277A>C (p.Glu426Ala) c.1019A>C (p.Glu340Ala) c.145A>C c.*10A>C (n.*10A>C) c.1391A>C (p.Glu464Ala) | |
| 22 | g.50625398T= | CA2410958459 | ARSA | c.1277A= (p.Glu426=) c.1019A= (p.Glu340=) c.145A= c.*10A= (n.*10A=) c.1391A= (p.Glu464=) | |
| 22 | g.50625399C>A | CA412168954 | ARSA | c.1276G>T (p.Glu426Ter) c.1018G>T (p.Glu340Ter) c.144G>T c.*9G>T (n.*9G>T) c.1390G>T (p.Glu464Ter) | |
| 22 | g.50625399C>G | CA412168957 | ARSA | c.1276G>C (p.Glu426Gln) c.1018G>C (p.Glu340Gln) c.144G>C c.*9G>C (n.*9G>C) c.1390G>C (p.Glu464Gln) | |
| 22 | g.50625399C>T | CA412168961 | ARSA | c.1276G>A (p.Glu426Lys) c.1018G>A (p.Glu340Lys) c.144G>A c.*9G>A (n.*9G>A) c.1390G>A (p.Glu464Lys) | ClinVar dbSNP |
| 22 | g.50625400A>C | CA412168966 | ARSA | c.1275T>G (p.His425Gln) c.1017T>G (p.His339Gln) c.143T>G c.*8T>G (n.*8T>G) c.1389T>G (p.His463Gln) | gnomAD v4 |
| 22 | g.50625400A>G | CA515391200 | ARSA | c.1275T>C (p.His425=) c.1017T>C (p.His339=) c.143T>C c.*8T>C (n.*8T>C) c.1389T>C (p.His463=) | |
| 22 | g.50625400A>T | CA412168970 | ARSA | c.1275T>A (p.His425Gln) c.1017T>A (p.His339Gln) c.143T>A c.*8T>A (n.*8T>A) c.1389T>A (p.His463Gln) | |
| 22 | g.50625400_50625401delinsGG | CA2573158297 | ARSA | c.1274_1275delinsCC (p.His425Pro) c.1016_1017delinsCC (p.His339Pro) c.142_143delinsCC c.*7_*8delinsCC (n.*7_*8delinsCC) c.1388_1389delinsCC (p.His463Pro) | dbSNP |
| 22 | g.50625401T>A | CA412168975 | ARSA | c.1274A>T (p.His425Leu) c.1016A>T (p.His339Leu) c.142A>T c.*7A>T (n.*7A>T) c.1388A>T (p.His463Leu) | |
| 22 | g.50625401T>C | CA412168978 | ARSA | c.1274A>G (p.His425Arg) c.1016A>G (p.His339Arg) c.142A>G c.*7A>G (n.*7A>G) c.1388A>G (p.His463Arg) | ClinVar dbSNP gnomAD v4 |
| 22 | g.50625401T>G | CA412168982 | ARSA | c.1274A>C (p.His425Pro) c.1016A>C (p.His339Pro) c.142A>C c.*7A>C (n.*7A>C) c.1388A>C (p.His463Pro) | gnomAD v4 |
| 22 | g.50625401T= | CA2410958460 | ARSA | c.1274A= (p.His425=) c.1016A= (p.His339=) c.142A= c.*7A= (n.*7A=) c.1388A= (p.His463=) | |
| 22 | g.50625402G>A | CA412168986 | ARSA | c.1273C>T (p.His425Tyr) c.1015C>T (p.His339Tyr) c.141C>T c.*6C>T (n.*6C>T) c.1387C>T (p.His463Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625402G>C | CA10324756 | ARSA | c.1273C>G (p.His425Asp) c.1015C>G (p.His339Asp) c.141C>G c.*6C>G (n.*6C>G) c.1387C>G (p.His463Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50625402G= | CA2410958461 | ARSA | c.1273C= (p.His425=) c.1015C= (p.His339=) c.141C= c.*6C= (n.*6C=) c.1387C= (p.His463=) | |
| 22 | g.50625402G>T | CA412168995 | ARSA | c.1273C>A (p.His425Asn) c.1015C>A (p.His339Asn) c.141C>A c.*6C>A (n.*6C>A) c.1387C>A (p.His463Asn) | gnomAD v4 |
| 22 | g.50625403A= | CA2410958462 | ARSA | c.1272T= (p.Ala424=) c.1014T= (p.Ala338=) c.140T= c.*5T= (n.*5T=) c.1386T= (p.Ala462=) | |
| 22 | g.50625403A>C | CA515391204 | ARSA | c.1272T>G (p.Ala424=) c.1014T>G (p.Ala338=) c.140T>G c.*5T>G (n.*5T>G) c.1386T>G (p.Ala462=) | |
| 22 | g.50625403A>G | CA515391207 | ARSA | c.1272T>C (p.Ala424=) c.1014T>C (p.Ala338=) c.140T>C c.*5T>C (n.*5T>C) c.1386T>C (p.Ala462=) | dbSNP |
| 22 | g.50625403A>T | CA515391205 | ARSA | c.1272T>A (p.Ala424=) c.1014T>A (p.Ala338=) c.140T>A c.*5T>A (n.*5T>A) c.1386T>A (p.Ala462=) | |
| 22 | g.50625404G>A | CA412169010 | ARSA | c.1271C>T (p.Ala424Val) c.1013C>T (p.Ala338Val) c.139C>T c.*4C>T (n.*4C>T) c.1385C>T (p.Ala462Val) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50625404G>C | CA412169006 | ARSA | c.1271C>G (p.Ala424Gly) c.1013C>G (p.Ala338Gly) c.139C>G c.*4C>G (n.*4C>G) c.1385C>G (p.Ala462Gly) | gnomAD v4 |
| 22 | g.50625404G= | CA2410958463 | ARSA | c.1271C= (p.Ala424=) c.1013C= (p.Ala338=) c.139C= c.*4C= (n.*4C=) c.1385C= (p.Ala462=) | |
| 22 | g.50625404G>T | CA412169003 | ARSA | c.1271C>A (p.Ala424Asp) c.1013C>A (p.Ala338Asp) c.139C>A c.*4C>A (n.*4C>A) c.1385C>A (p.Ala462Asp) | |
| 22 | g.50625404_50625408delinsGCAGT | CA2410958464 | ARSA | c.1267_1271delinsACTGC (p.Thr423=) c.1009_1013delinsACTGC (p.Thr337=) c.135_139delinsACTGC c.1164_*4delinsACTGC (n.[c.1164_*4delinsACTGC;Ter388=]) c.1381_1385delinsACTGC (p.Thr461=) | |
| 22 | g.50625405del | CA2819316123 | ARSA | c.1270del (p.Ala424LeufsTer?) c.1012del (p.Ala338LeufsTer?) c.138del c.*3del (n.*3del) c.1384del (p.Ala462LeufsTer?) | |
| 22 | g.50625405C>A | CA412169026 | ARSA | c.1270G>T (p.Ala424Ser) c.1012G>T (p.Ala338Ser) c.138G>T c.*3G>T (n.*3G>T) c.1384G>T (p.Ala462Ser) | gnomAD v4 |
| 22 | g.50625405C= | CA2410958466 | ARSA | c.1270G= (p.Ala424=) c.1012G= (p.Ala338=) c.138G= c.*3G= (n.*3G=) c.1384G= (p.Ala462=) | |
| 22 | g.50625405C>G | CA412169031 | ARSA | c.1270G>C (p.Ala424Pro) c.1012G>C (p.Ala338Pro) c.138G>C c.*3G>C (n.*3G>C) c.1384G>C (p.Ala462Pro) | dbSNP |
| 22 | g.50625405C>T | CA412169049 | ARSA | c.1270G>A (p.Ala424Thr) c.1012G>A (p.Ala338Thr) c.138G>A c.*3G>A (n.*3G>A) c.1384G>A (p.Ala462Thr) | gnomAD v4 |
| 22 | g.50625405_50625406delinsCA | CA2410958465 | ARSA | c.1269_1270delinsTG (p.Thr423=) c.1011_1012delinsTG (p.Thr337=) c.137_138delinsTG c.*2_*3delinsTG (n.*2_*3delinsTG) c.1383_1384delinsTG (p.Thr461=) | |
| 22 | g.50625408_50625411del | CA920392326 | ARSA | c.1267_1270del (p.Thr423LeufsTer?) c.1009_1012del (p.Thr337LeufsTer?) c.135_138del c.1164_*3del (n.[c.1164_*3del;Ter388CysextTer3]) c.1381_1384del (p.Thr461LeufsTer?) | dbSNP |
| 22 | g.50625406del | CA1139667191 | ARSA | c.1269del (p.Ala424LeufsTer?) c.1011del (p.Ala338LeufsTer?) c.137del c.*2del (n.*2del) c.1383del (p.Ala462LeufsTer?) | ClinVar dbSNP |
| 22 | g.50625406A>C | CA515391213 | ARSA | c.1269T>G (p.Thr423=) c.1011T>G (p.Thr337=) c.137T>G c.*2T>G (n.*2T>G) c.1383T>G (p.Thr461=) | |
| 22 | g.50625406A>G | CA515391214 | ARSA | c.1269T>C (p.Thr423=) c.1011T>C (p.Thr337=) c.137T>C c.*2T>C (n.*2T>C) c.1383T>C (p.Thr461=) | |
| 22 | g.50625406A>T | CA515391215 | ARSA | c.1269T>A (p.Thr423=) c.1011T>A (p.Thr337=) c.137T>A c.*2T>A (n.*2T>A) c.1383T>A (p.Thr461=) | gnomAD v4 |
| 22 | g.50625407G>A | CA412169064 | ARSA | c.1268C>T (p.Thr423Ile) c.1010C>T (p.Thr337Ile) c.136C>T c.*1C>T (n.*1C>T) c.1382C>T (p.Thr461Ile) | |
| 22 | g.50625407G>C | CA412169069 | ARSA | c.1268C>G (p.Thr423Ser) c.1010C>G (p.Thr337Ser) c.136C>G c.*1C>G (n.*1C>G) c.1382C>G (p.Thr461Ser) | |
| 22 | g.50625407G>T | CA412169071 | ARSA | c.1268C>A (p.Thr423Asn) c.1010C>A (p.Thr337Asn) c.136C>A c.*1C>A (n.*1C>A) c.1382C>A (p.Thr461Asn) | |
| 22 | g.50625408T>A | CA412169077 | ARSA | c.1267A>T (p.Thr423Ser) c.1009A>T (p.Thr337Ser) c.135A>T c.1164A>T (p.Ter388Cys) c.1381A>T (p.Thr461Ser) | |
| 22 | g.50625408T>C | CA412169080 | ARSA | c.1267A>G (p.Thr423Ala) c.1009A>G (p.Thr337Ala) c.135A>G c.1164A>G (p.Ter388Trp) c.1381A>G (p.Thr461Ala) | |
| 22 | g.50625408T>G | CA412169085 | ARSA | c.1267A>C (p.Thr423Pro) c.1009A>C (p.Thr337Pro) c.135A>C c.1164A>C (p.Ter388Cys) c.1381A>C (p.Thr461Pro) | gnomAD v4 |
| 22 | g.50625409C>A | CA515391220 | ARSA | c.1266G>T (p.Leu422=) c.1008G>T (p.Leu336=) c.134G>T c.1163G>T (p.Ter388Leu) c.1380G>T (p.Leu460=) | |
| 22 | g.50625409C>G | CA515391221 | ARSA | c.1266G>C (p.Leu422=) c.1008G>C (p.Leu336=) c.134G>C c.1163G>C (p.Ter388Ser) c.1380G>C (p.Leu460=) | |
| 22 | g.50625409C>T | CA515391222 | ARSA | c.1266G>A (p.Leu422=) c.1008G>A (p.Leu336=) c.134G>A c.1163G>A (p.Ter388=) c.1380G>A (p.Leu460=) | |
| 22 | g.50625409dup | CA2657590927 | ARSA | c.1266dup (p.Thr423AspfsTer4) c.1008dup (p.Thr337AspfsTer4) c.134dup c.1163dup (p.Ter388TrpextTer?) c.1380dup (p.Thr461AspfsTer4) | gnomAD v4 |
| 22 | g.50625410A= | CA2410958468 | ARSA | c.1265T= (p.Leu422=) c.1007T= (p.Leu336=) c.133T= c.1162T= (p.Ter388=) c.1379T= (p.Leu460=) | |
| 22 | g.50625410A>C | CA412169092 | ARSA | c.1265T>G (p.Leu422Arg) c.1007T>G (p.Leu336Arg) c.133T>G c.1162T>G (p.Ter388Gly) c.1379T>G (p.Leu460Arg) | |
| 22 | g.50625410A>G | CA412169096 | ARSA | c.1265T>C (p.Leu422Pro) c.1007T>C (p.Leu336Pro) c.133T>C c.1162T>C (p.Ter388Arg) c.1379T>C (p.Leu460Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50625410A>T | CA412169101 | ARSA | c.1265T>A (p.Leu422Gln) c.1007T>A (p.Leu336Gln) c.133T>A c.1162T>A (p.Ter388Arg) c.1379T>A (p.Leu460Gln) | |
| 22 | g.50625410_50625411delinsAG | CA2410958467 | ARSA | c.1264_1265delinsCT (p.Leu422=) c.1006_1007delinsCT (p.Leu336=) c.132_133delinsCT c.1161_1162delinsCT (p.Leu387=) c.1378_1379delinsCT (p.Leu460=) | |
| 22 | g.50625414_50625415del | CA2657590928 | ARSA | c.1264_1265del (p.Leu422AspfsTer4) c.1006_1007del (p.Leu336AspfsTer4) c.132_133del c.1161_1162del (p.Ter388ThrextTer?) c.1378_1379del (p.Leu460AspfsTer4) | ClinVar gnomAD v4 |
| 22 | g.50625410_50625411insAG | CA2657590933 | ARSA | c.1264_1265insCT (p.Leu422ProfsTer2) c.1006_1007insCT (p.Leu336ProfsTer2) c.132_133insCT c.1161_1162insCT (p.Ter388LeuextTer5) c.1378_1379insCT (p.Leu460ProfsTer2) | gnomAD v4 |
| 22 | g.50625411del | CA10324757 | ARSA | c.1264del (p.Leu422Ter) c.1006del (p.Leu336Ter) c.132del c.1161del (p.Ter388AspextTer4) c.1378del (p.Leu460Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625411G>A | CA515391224 | ARSA | c.1264C>T (p.Leu422=) c.1006C>T (p.Leu336=) c.132C>T c.1161C>T (p.Leu387=) c.1378C>T (p.Leu460=) | |
| 22 | g.50625411G>C | CA412169126 | ARSA | c.1264C>G (p.Leu422Val) c.1006C>G (p.Leu336Val) c.132C>G c.1161C>G (p.Leu387=) c.1378C>G (p.Leu460Val) | dbSNP |
| 22 | g.50625411G= | CA2410958469 | ARSA | c.1264C= (p.Leu422=) c.1006C= (p.Leu336=) c.132C= c.1161C= (p.Leu387=) c.1378C= (p.Leu460=) | |
| 22 | g.50625411G>T | CA412169111 | ARSA | c.1264C>A (p.Leu422Met) c.1006C>A (p.Leu336Met) c.132C>A c.1161C>A (p.Leu387=) c.1378C>A (p.Leu460Met) | |
| 22 | g.50625412A>C | CA515391226 | ARSA | c.1263T>G (p.Ser421=) c.1005T>G (p.Ser335=) c.131T>G c.1160T>G (p.Leu387Arg) c.1377T>G (p.Ser459=) | |
| 22 | g.50625412A>G | CA515391228 | ARSA | c.1263T>C (p.Ser421=) c.1005T>C (p.Ser335=) c.131T>C c.1160T>C (p.Leu387Pro) c.1377T>C (p.Ser459=) | gnomAD v4 |
| 22 | g.50625412A>T | CA515391230 | ARSA | c.1263T>A (p.Ser421=) c.1005T>A (p.Ser335=) c.131T>A c.1160T>A (p.Leu387His) c.1377T>A (p.Ser459=) | |
| 22 | g.50625412_50625413insCCCTGGT | CA2657590938 | ARSA | c.1262_1263insACCAGGG (p.Leu422ProfsTer7) c.1004_1005insACCAGGG (p.Leu336ProfsTer7) c.130_131insACCAGGG c.1159_1160insACCAGGG (p.Leu387HisfsTer?) c.1376_1377insACCAGGG (p.Leu460ProfsTer7) | gnomAD v4 |
| 22 | g.50625413G>A | CA412169132 | ARSA | c.1262C>T (p.Ser421Phe) c.1004C>T (p.Ser335Phe) c.130C>T c.1159C>T (p.Leu387Phe) c.1376C>T (p.Ser459Phe) | |
| 22 | g.50625413G>C | CA10324758 | ARSA | c.1262C>G (p.Ser421Cys) c.1004C>G (p.Ser335Cys) c.130C>G c.1159C>G (p.Leu387Val) c.1376C>G (p.Ser459Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50625413G= | CA2410958470 | ARSA | c.1262C= (p.Ser421=) c.1004C= (p.Ser335=) c.130C= c.1159C= (p.Leu387=) c.1376C= (p.Ser459=) | |
| 22 | g.50625413G>T | CA412169133 | ARSA | c.1262C>A (p.Ser421Tyr) c.1004C>A (p.Ser335Tyr) c.130C>A c.1159C>A (p.Leu387Ile) c.1376C>A (p.Ser459Tyr) | |
| 22 | g.50625414A>C | CA412169134 | ARSA | c.1261T>G (p.Ser421Ala) c.1003T>G (p.Ser335Ala) c.129T>G c.1158T>G (p.Ala386=) c.1375T>G (p.Ser459Ala) | |
| 22 | g.50625414A>G | CA412169138 | ARSA | c.1261T>C (p.Ser421Pro) c.1003T>C (p.Ser335Pro) c.129T>C c.1158T>C (p.Ala386=) c.1375T>C (p.Ser459Pro) | |
| 22 | g.50625414A>T | CA412169145 | ARSA | c.1261T>A (p.Ser421Thr) c.1003T>A (p.Ser335Thr) c.129T>A c.1158T>A (p.Ala386=) c.1375T>A (p.Ser459Thr) | |
| 22 | g.50625415G>A | CA515391233 | ARSA | c.1260C>T (p.Ser420=) c.1002C>T (p.Ser334=) c.128C>T c.1157C>T (p.Ala386Val) c.1374C>T (p.Ser458=) | ClinVar dbSNP |
| 22 | g.50625415G>C | CA412169152 | ARSA | c.1260C>G (p.Ser420Arg) c.1002C>G (p.Ser334Arg) c.128C>G c.1157C>G (p.Ala386Gly) c.1374C>G (p.Ser458Arg) | |
| 22 | g.50625415G= | CA2410958471 | ARSA | c.1260C= (p.Ser420=) c.1002C= (p.Ser334=) c.128C= c.1157C= (p.Ala386=) c.1374C= (p.Ser458=) | |
| 22 | g.50625415G>T | CA412169154 | ARSA | c.1260C>A (p.Ser420Arg) c.1002C>A (p.Ser334Arg) c.128C>A c.1157C>A (p.Ala386Asp) c.1374C>A (p.Ser458Arg) | |
| 22 | g.50625415_50625416insAACTACAAC | CA2657590943 | ARSA | c.1259_1260insGTTGTAGTT (p.Ser420ArgfsTer3) c.1001_1002insGTTGTAGTT (p.Ser334ArgfsTer3) c.127_128insGTTGTAGTT c.1156_1157insGTTGTAGTT (p.Ala386delinsGlyCysSerSer) c.1373_1374insGTTGTAGTT (p.Ser458ArgfsTer3) | gnomAD v4 |
| 22 | g.50625416C>A | CA412169173 | ARSA | c.1259G>T (p.Ser420Ile) c.1001G>T (p.Ser334Ile) c.127G>T c.1156G>T (p.Ala386Ser) c.1373G>T (p.Ser458Ile) | gnomAD v4 |
| 22 | g.50625416C>G | CA412169176 | ARSA | c.1259G>C (p.Ser420Thr) c.1001G>C (p.Ser334Thr) c.127G>C c.1156G>C (p.Ala386Pro) c.1373G>C (p.Ser458Thr) | |
| 22 | g.50625416C>T | CA412169178 | ARSA | c.1259G>A (p.Ser420Asn) c.1001G>A (p.Ser334Asn) c.127G>A c.1156G>A (p.Ala386Thr) c.1373G>A (p.Ser458Asn) | |
| 22 | g.50625417T>A | CA412169180 | ARSA | c.1258A>T (p.Ser420Cys) c.1000A>T (p.Ser334Cys) c.126A>T c.1155A>T (p.Pro385=) c.1372A>T (p.Ser458Cys) | |
| 22 | g.50625417T>C | CA412169183 | ARSA | c.1258A>G (p.Ser420Gly) c.1000A>G (p.Ser334Gly) c.126A>G c.1155A>G (p.Pro385=) c.1372A>G (p.Ser458Gly) | gnomAD v4 |
| 22 | g.50625417T>G | CA10324759 | ARSA | c.1258A>C (p.Ser420Arg) c.1000A>C (p.Ser334Arg) c.126A>C c.1155A>C (p.Pro385=) c.1372A>C (p.Ser458Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625417T= | CA2410958472 | ARSA | c.1258A= (p.Ser420=) c.1000A= (p.Ser334=) c.126A= c.1155A= (p.Pro385=) c.1372A= (p.Ser458=) | |
| 22 | g.50625418G>A | CA325531227 | ARSA | c.1257C>T (p.Ser419=) c.999C>T (p.Ser333=) c.125C>T c.1154C>T (p.Pro385Leu) c.1371C>T (p.Ser457=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50625418G>C | CA515391240 | ARSA | c.1257C>G (p.Ser419=) c.999C>G (p.Ser333=) c.125C>G c.1154C>G (p.Pro385Arg) c.1371C>G (p.Ser457=) | |
| 22 | g.50625418G= | CA2410958473 | ARSA | c.1257C= (p.Ser419=) c.999C= (p.Ser333=) c.125C= c.1154C= (p.Pro385=) c.1371C= (p.Ser457=) | |
| 22 | g.50625418G>T | CA515391238 | ARSA | c.1257C>A (p.Ser419=) c.999C>A (p.Ser333=) c.125C>A c.1154C>A (p.Pro385Gln) c.1371C>A (p.Ser457=) | gnomAD v4 |
| 22 | g.50625419G>A | CA412169198 | ARSA | c.1256C>T (p.Ser419Phe) c.998C>T (p.Ser333Phe) c.124C>T c.1153C>T (p.Pro385Ser) c.1370C>T (p.Ser457Phe) | |
| 22 | g.50625419G>C | CA412169193 | ARSA | c.1256C>G (p.Ser419Cys) c.998C>G (p.Ser333Cys) c.124C>G c.1153C>G (p.Pro385Ala) c.1370C>G (p.Ser457Cys) | |
| 22 | g.50625419G= | CA2410958474 | ARSA | c.1256C= (p.Ser419=) c.998C= (p.Ser333=) c.124C= c.1153C= (p.Pro385=) c.1370C= (p.Ser457=) | |
| 22 | g.50625419G>T | CA325531228 | ARSA | c.1256C>A (p.Ser419Tyr) c.998C>A (p.Ser333Tyr) c.124C>A c.1153C>A (p.Pro385Thr) c.1370C>A (p.Ser457Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50625420A>C | CA412169203 | ARSA | c.1255T>G (p.Ser419Ala) c.997T>G (p.Ser333Ala) c.123T>G c.1152T>G (p.Pro384=) c.1369T>G (p.Ser457Ala) | |
| 22 | g.50625420A>G | CA412169213 | ARSA | c.1255T>C (p.Ser419Pro) c.997T>C (p.Ser333Pro) c.123T>C c.1152T>C (p.Pro384=) c.1369T>C (p.Ser457Pro) | gnomAD v4 |
| 22 | g.50625420A>T | CA412169215 | ARSA | c.1255T>A (p.Ser419Thr) c.997T>A (p.Ser333Thr) c.123T>A c.1152T>A (p.Pro384=) c.1369T>A (p.Ser457Thr) | |
| 22 | g.50625421G>A | CA515391248 | ARSA | c.1254C>T (p.Ala418=) c.996C>T (p.Ala332=) c.122C>T c.1151C>T (p.Pro384Leu) c.1368C>T (p.Ala456=) | ClinVar gnomAD v4 |
| 22 | g.50625421G>C | CA515391250 | ARSA | c.1254C>G (p.Ala418=) c.996C>G (p.Ala332=) c.122C>G c.1151C>G (p.Pro384Arg) c.1368C>G (p.Ala456=) | gnomAD v4 |
| 22 | g.50625421G>T | CA515391249 | ARSA | c.1254C>A (p.Ala418=) c.996C>A (p.Ala332=) c.122C>A c.1151C>A (p.Pro384His) c.1368C>A (p.Ala456=) | |
| 22 | g.50625422G>A | CA412169219 | ARSA | c.1253C>T (p.Ala418Val) c.995C>T (p.Ala332Val) c.121C>T c.1150C>T (p.Pro384Ser) c.1367C>T (p.Ala456Val) | COSMIC |
| 22 | g.50625422G>C | CA412169220 | ARSA | c.1253C>G (p.Ala418Gly) c.995C>G (p.Ala332Gly) c.121C>G c.1150C>G (p.Pro384Ala) c.1367C>G (p.Ala456Gly) | gnomAD v4 |
| 22 | g.50625422G>T | CA412169223 | ARSA | c.1253C>A (p.Ala418Asp) c.995C>A (p.Ala332Asp) c.121C>A c.1150C>A (p.Pro384Thr) c.1367C>A (p.Ala456Asp) | gnomAD v4 |
| 22 | g.50625423C>A | CA412169225 | ARSA | c.1252G>T (p.Ala418Ser) c.994G>T (p.Ala332Ser) c.120G>T c.1149G>T (p.Thr383=) c.1366G>T (p.Ala456Ser) | gnomAD v4 |
| 22 | g.50625423C= | CA2410958475 | ARSA | c.1252G= (p.Ala418=) c.994G= (p.Ala332=) c.120G= c.1149G= (p.Thr383=) c.1366G= (p.Ala456=) | |
| 22 | g.50625423C>G | CA412169230 | ARSA | c.1252G>C (p.Ala418Pro) c.994G>C (p.Ala332Pro) c.120G>C c.1149G>C (p.Thr383=) c.1366G>C (p.Ala456Pro) | |
| 22 | g.50625423C>T | CA10324760 | ARSA | c.1252G>A (p.Ala418Thr) c.994G>A (p.Ala332Thr) c.120G>A c.1149G>A (p.Thr383=) c.1366G>A (p.Ala456Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625424G>A | CA10324761 | ARSA | c.1251C>T (p.His417=) c.993C>T (p.His331=) c.119C>T c.1148C>T (p.Thr383Met) c.1365C>T (p.His455=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625424G>C | CA412169233 | ARSA | c.1251C>G (p.His417Gln) c.993C>G (p.His331Gln) c.119C>G c.1148C>G (p.Thr383Arg) c.1365C>G (p.His455Gln) | |
| 22 | g.50625424G= | CA2410958476 | ARSA | c.1251C= (p.His417=) c.993C= (p.His331=) c.119C= c.1148C= (p.Thr383=) c.1365C= (p.His455=) | |
| 22 | g.50625424G>T | CA412169236 | ARSA | c.1251C>A (p.His417Gln) c.993C>A (p.His331Gln) c.119C>A c.1148C>A (p.Thr383Lys) c.1365C>A (p.His455Gln) | |
| 22 | g.50625425T>A | CA412169253 | ARSA | c.1250A>T (p.His417Leu) c.992A>T (p.His331Leu) c.118A>T c.1147A>T (p.Thr383Ser) c.1364A>T (p.His455Leu) | |
| 22 | g.50625425T>C | CA412169251 | ARSA | c.1250A>G (p.His417Arg) c.992A>G (p.His331Arg) c.118A>G c.1147A>G (p.Thr383Ala) c.1364A>G (p.His455Arg) | |
| 22 | g.50625425T>G | CA412169246 | ARSA | c.1250A>C (p.His417Pro) c.992A>C (p.His331Pro) c.118A>C c.1147A>C (p.Thr383Pro) c.1364A>C (p.His455Pro) | |
| 22 | g.50625426G>A | CA412169261 | ARSA | c.1249C>T (p.His417Tyr) c.991C>T (p.His331Tyr) c.117C>T c.1146C>T (p.Ala382=) c.1363C>T (p.His455Tyr) | |
| 22 | g.50625426G>C | CA412169270 | ARSA | c.1249C>G (p.His417Asp) c.991C>G (p.His331Asp) c.117C>G c.1146C>G (p.Ala382=) c.1363C>G (p.His455Asp) | |
| 22 | g.50625426G>T | CA412169275 | ARSA | c.1249C>A (p.His417Asn) c.991C>A (p.His331Asn) c.117C>A c.1146C>A (p.Ala382=) c.1363C>A (p.His455Asn) | gnomAD v4 |
| 22 | g.50625427G>A | CA515391261 | ARSA | c.1248C>T (p.Cys416=) c.990C>T (p.Cys330=) c.116C>T c.1145C>T (p.Ala382Val) c.1362C>T (p.Cys454=) | gnomAD v4 |
| 22 | g.50625427G>C | CA412169281 | ARSA | c.1248C>G (p.Cys416Trp) c.990C>G (p.Cys330Trp) c.116C>G c.1145C>G (p.Ala382Gly) c.1362C>G (p.Cys454Trp) | |
| 22 | g.50625427G>T | CA412169284 | ARSA | c.1248C>A (p.Cys416Ter) c.990C>A (p.Cys330Ter) c.116C>A c.1145C>A (p.Ala382Asp) c.1362C>A (p.Cys454Ter) | |
| 22 | g.50625428C>A | CA412169297 | ARSA | c.1247G>T (p.Cys416Phe) c.989G>T (p.Cys330Phe) c.115G>T c.1144G>T (p.Ala382Ser) c.1361G>T (p.Cys454Phe) | gnomAD v4 |
| 22 | g.50625428C>G | CA412169295 | ARSA | c.1247G>C (p.Cys416Ser) c.989G>C (p.Cys330Ser) c.115G>C c.1144G>C (p.Ala382Pro) c.1361G>C (p.Cys454Ser) | |
| 22 | g.50625428C>T | CA412169290 | ARSA | c.1247G>A (p.Cys416Tyr) c.989G>A (p.Cys330Tyr) c.115G>A c.1144G>A (p.Ala382Thr) c.1361G>A (p.Cys454Tyr) | gnomAD v4 |
| 22 | g.50625429A= | CA2410958477 | ARSA | c.1246T= (p.Cys416=) c.988T= (p.Cys330=) c.114T= c.1143T= (p.Pro381=) c.1360T= (p.Cys454=) | |
| 22 | g.50625429A>C | CA412169298 | ARSA | c.1246T>G (p.Cys416Gly) c.988T>G (p.Cys330Gly) c.114T>G c.1143T>G (p.Pro381=) c.1360T>G (p.Cys454Gly) | dbSNP |
| 22 | g.50625429A>G | CA412169299 | ARSA | c.1246T>C (p.Cys416Arg) c.988T>C (p.Cys330Arg) c.114T>C c.1143T>C (p.Pro381=) c.1360T>C (p.Cys454Arg) | |
| 22 | g.50625429A>T | CA412169304 | ARSA | c.1246T>A (p.Cys416Ser) c.988T>A (p.Cys330Ser) c.114T>A c.1143T>A (p.Pro381=) c.1360T>A (p.Cys454Ser) | |
| 22 | g.50625430G>A | CA515391270 | ARSA | c.1245C>T (p.Ala415=) c.987C>T (p.Ala329=) c.113C>T c.1142C>T (p.Pro381Leu) c.1359C>T (p.Ala453=) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50625430G>C | CA515391272 | ARSA | c.1245C>G (p.Ala415=) c.987C>G (p.Ala329=) c.113C>G c.1142C>G (p.Pro381Arg) c.1359C>G (p.Ala453=) | |
| 22 | g.50625430G= | CA2410958478 | ARSA | c.1245C= (p.Ala415=) c.987C= (p.Ala329=) c.113C= c.1142C= (p.Pro381=) c.1359C= (p.Ala453=) | |
| 22 | g.50625430G>T | CA515391274 | ARSA | c.1245C>A (p.Ala415=) c.987C>A (p.Ala329=) c.113C>A c.1142C>A (p.Pro381His) c.1359C>A (p.Ala453=) | |
| 22 | g.50625431G>A | CA412169308 | ARSA | c.1244C>T (p.Ala415Val) c.986C>T (p.Ala329Val) c.112C>T c.1141C>T (p.Pro381Ser) c.1358C>T (p.Ala453Val) | gnomAD v4 |
| 22 | g.50625431G>C | CA412169309 | ARSA | c.1244C>G (p.Ala415Gly) c.986C>G (p.Ala329Gly) c.112C>G c.1141C>G (p.Pro381Ala) c.1358C>G (p.Ala453Gly) | |
| 22 | g.50625431G>T | CA412169310 | ARSA | c.1244C>A (p.Ala415Asp) c.986C>A (p.Ala329Asp) c.112C>A c.1141C>A (p.Pro381Thr) c.1358C>A (p.Ala453Asp) | |
| 22 | g.50625432C>A | CA412169314 | ARSA | c.1243G>T (p.Ala415Ser) c.985G>T (p.Ala329Ser) c.111G>T c.1140G>T (p.Leu380=) c.1357G>T (p.Ala453Ser) | |
| 22 | g.50625432C>G | CA412169324 | ARSA | c.1243G>C (p.Ala415Pro) c.985G>C (p.Ala329Pro) c.111G>C c.1140G>C (p.Leu380=) c.1357G>C (p.Ala453Pro) | |
| 22 | g.50625432C>T | CA412169318 | ARSA | c.1243G>A (p.Ala415Thr) c.985G>A (p.Ala329Thr) c.111G>A c.1140G>A (p.Leu380=) c.1357G>A (p.Ala453Thr) | |
| 22 | g.50625433A>C | CA515391276 | ARSA | c.1242T>G (p.Pro414=) c.984T>G (p.Pro328=) c.110T>G c.1139T>G (p.Leu380Arg) c.1356T>G (p.Pro452=) | |
| 22 | g.50625433A>G | CA515391278 | ARSA | c.1242T>C (p.Pro414=) c.984T>C (p.Pro328=) c.110T>C c.1139T>C (p.Leu380Pro) c.1356T>C (p.Pro452=) | |
| 22 | g.50625433A>T | CA515391279 | ARSA | c.1242T>A (p.Pro414=) c.984T>A (p.Pro328=) c.110T>A c.1139T>A (p.Leu380Gln) c.1356T>A (p.Pro452=) | |
| 22 | g.50625434G>A | CA412169331 | ARSA | c.1241C>T (p.Pro414Leu) c.983C>T (p.Pro328Leu) c.109C>T c.1138C>T (p.Leu380=) c.1355C>T (p.Pro452Leu) | gnomAD v4 |
| 22 | g.50625434G>C | CA412169336 | ARSA | c.1241C>G (p.Pro414Arg) c.983C>G (p.Pro328Arg) c.109C>G c.1138C>G (p.Leu380Val) c.1355C>G (p.Pro452Arg) | |
| 22 | g.50625434G>T | CA412169339 | ARSA | c.1241C>A (p.Pro414His) c.983C>A (p.Pro328His) c.109C>A c.1138C>A (p.Leu380Met) c.1355C>A (p.Pro452His) | |
| 22 | g.50625436del | CA515391280 | ARSA | c.1241del (p.Pro414LeufsTer9) c.983del (p.Pro328LeufsTer9) c.109del c.1138del (p.Leu380CysfsTer12) c.1355del (p.Pro452LeufsTer9) | |
| 22 | g.50625435G>A | CA412169344 | ARSA | c.1240C>T (p.Pro414Ser) c.982C>T (p.Pro328Ser) c.108C>T c.1137C>T (p.Thr379=) c.1354C>T (p.Pro452Ser) | gnomAD v4 |
| 22 | g.50625435G>C | CA412169345 | ARSA | c.1240C>G (p.Pro414Ala) c.982C>G (p.Pro328Ala) c.108C>G c.1137C>G (p.Thr379=) c.1354C>G (p.Pro452Ala) | |
| 22 | g.50625435G= | CA2410958479 | ARSA | c.1240C= (p.Pro414=) c.982C= (p.Pro328=) c.108C= c.1137C= (p.Thr379=) c.1354C= (p.Pro452=) | |
| 22 | g.50625435G>T | CA412169346 | ARSA | c.1240C>A (p.Pro414Thr) c.982C>A (p.Pro328Thr) c.108C>A c.1137C>A (p.Thr379=) c.1354C>A (p.Pro452Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625438_50625447del | CA2657590979 | ARSA | c.1231_1240del (p.Thr411LeufsTer9) c.973_982del (p.Thr325LeufsTer9) c.99_108del c.1128_1137del (p.Leu377CysfsTer12) c.1345_1354del (p.Thr449LeufsTer9) | gnomAD v4 |
| 22 | g.50625436G>A | CA515391286 | ARSA | c.1239C>T (p.Asp413=) c.981C>T (p.Asp327=) c.107C>T c.1136C>T (p.Thr379Ile) c.1353C>T (p.Asp451=) | |
| 22 | g.50625436G>C | CA412169349 | ARSA | c.1239C>G (p.Asp413Glu) c.981C>G (p.Asp327Glu) c.107C>G c.1136C>G (p.Thr379Ser) c.1353C>G (p.Asp451Glu) | |
| 22 | g.50625436G>T | CA412169351 | ARSA | c.1239C>A (p.Asp413Glu) c.981C>A (p.Asp327Glu) c.107C>A c.1136C>A (p.Thr379Asn) c.1353C>A (p.Asp451Glu) | |
| 22 | g.50625437T>A | CA412169357 | ARSA | c.1238A>T (p.Asp413Val) c.980A>T (p.Asp327Val) c.106A>T c.1135A>T (p.Thr379Ser) c.1352A>T (p.Asp451Val) | |
| 22 | g.50625437T>C | CA412169360 | ARSA | c.1238A>G (p.Asp413Gly) c.980A>G (p.Asp327Gly) c.106A>G c.1135A>G (p.Thr379Ala) c.1352A>G (p.Asp451Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50625437T>G | CA412169364 | ARSA | c.1238A>C (p.Asp413Ala) c.980A>C (p.Asp327Ala) c.106A>C c.1135A>C (p.Thr379Pro) c.1352A>C (p.Asp451Ala) | dbSNP |
| 22 | g.50625437T= | CA2410958480 | ARSA | c.1238A= (p.Asp413=) c.980A= (p.Asp327=) c.106A= c.1135A= (p.Thr379=) c.1352A= (p.Asp451=) | |
| 22 | g.50625438C>A | CA412169365 | ARSA | c.1237G>T (p.Asp413Tyr) c.979G>T (p.Asp327Tyr) c.105G>T c.1134G>T (p.Gln378His) c.1351G>T (p.Asp451Tyr) | gnomAD v4 |
| 22 | g.50625438C>G | CA412169369 | ARSA | c.1237G>C (p.Asp413His) c.979G>C (p.Asp327His) c.105G>C c.1134G>C (p.Gln378His) c.1351G>C (p.Asp451His) | |
| 22 | g.50625438C>T | CA412169366 | ARSA | c.1237G>A (p.Asp413Asn) c.979G>A (p.Asp327Asn) c.105G>A c.1134G>A (p.Gln378=) c.1351G>A (p.Asp451Asn) | |
| 22 | g.50625439T>A | CA515391294 | ARSA | c.1236A>T (p.Ala412=) c.978A>T (p.Ala326=) c.104A>T c.1133A>T (p.Gln378Leu) c.1350A>T (p.Ala450=) | |
| 22 | g.50625439T>C | CA515391295 | ARSA | c.1236A>G (p.Ala412=) c.978A>G (p.Ala326=) c.104A>G c.1133A>G (p.Gln378Arg) c.1350A>G (p.Ala450=) | |
| 22 | g.50625439T>G | CA515391296 | ARSA | c.1236A>C (p.Ala412=) c.978A>C (p.Ala326=) c.104A>C c.1133A>C (p.Gln378Pro) c.1350A>C (p.Ala450=) | |
| 22 | g.50625440G>A | CA412169373 | ARSA | c.1235C>T (p.Ala412Val) c.977C>T (p.Ala326Val) c.103C>T c.1132C>T (p.Gln378Ter) c.1349C>T (p.Ala450Val) | dbSNP gnomAD v4 |
| 22 | g.50625440G>C | CA412169388 | ARSA | c.1235C>G (p.Ala412Gly) c.977C>G (p.Ala326Gly) c.103C>G c.1132C>G (p.Gln378Glu) c.1349C>G (p.Ala450Gly) | |
| 22 | g.50625440G= | CA2410958481 | ARSA | c.1235C= (p.Ala412=) c.977C= (p.Ala326=) c.103C= c.1132C= (p.Gln378=) c.1349C= (p.Ala450=) | |
| 22 | g.50625440G>T | CA412169384 | ARSA | c.1235C>A (p.Ala412Glu) c.977C>A (p.Ala326Glu) c.103C>A c.1132C>A (p.Gln378Lys) c.1349C>A (p.Ala450Glu) | |
| 22 | g.50625441C>A | CA412169398 | ARSA | c.1234G>T (p.Ala412Ser) c.976G>T (p.Ala326Ser) c.102G>T c.1131G>T (p.Leu377=) c.1348G>T (p.Ala450Ser) | |
| 22 | g.50625441C>G | CA412169404 | ARSA | c.1234G>C (p.Ala412Pro) c.976G>C (p.Ala326Pro) c.102G>C c.1131G>C (p.Leu377=) c.1348G>C (p.Ala450Pro) | |
| 22 | g.50625441C>T | CA412169402 | ARSA | c.1234G>A (p.Ala412Thr) c.976G>A (p.Ala326Thr) c.102G>A c.1131G>A (p.Leu377=) c.1348G>A (p.Ala450Thr) | |
| 22 | g.50625442A>C | CA515391306 | ARSA | c.1233T>G (p.Thr411=) c.975T>G (p.Thr325=) c.101T>G c.1130T>G (p.Leu377Arg) c.1347T>G (p.Thr449=) | |
| 22 | g.50625442A>G | CA515391307 | ARSA | c.1233T>C (p.Thr411=) c.975T>C (p.Thr325=) c.101T>C c.1130T>C (p.Leu377Pro) c.1347T>C (p.Thr449=) | gnomAD v4 |
| 22 | g.50625442A>T | CA515391309 | ARSA | c.1233T>A (p.Thr411=) c.975T>A (p.Thr325=) c.101T>A c.1130T>A (p.Leu377Gln) c.1347T>A (p.Thr449=) | |
| 22 | g.50625442_50625453del | CA913088702 | ARSA | c.1222_1233del (p.Ser408_Thr411del) c.964_975del (p.Ser322_Thr325del) c.90_101del c.1119_1130del (p.Val374_Leu377del) c.1336_1347del (p.Ser446_Thr449del) | |
| 22 | g.50625442_50625453delinsAGTGGTATCACT | CA2410958482 | ARSA | c.1222_1233delinsAGTGATACCACT (p.Ser408=) c.964_975delinsAGTGATACCACT (p.Ser322=) c.90_101delinsAGTGATACCACT c.1119_1130delinsAGTGATACCACT (p.Thr373=) c.1336_1347delinsAGTGATACCACT (p.Ser446=) | |
| 22 | g.50625443G>A | CA115999 | ARSA | c.1232C>T (p.Thr411Ile) c.974C>T (p.Thr325Ile) c.100C>T c.1129C>T (p.Leu377=) c.1346C>T (p.Thr449Ile) | ClinVar dbSNP gnomAD v4 |
| 22 | g.50625443G>C | CA412169420 | ARSA | c.1232C>G (p.Thr411Ser) c.974C>G (p.Thr325Ser) c.100C>G c.1129C>G (p.Leu377Val) c.1346C>G (p.Thr449Ser) | |
| 22 | g.50625443G= | CA2410958483 | ARSA | c.1232C= (p.Thr411=) c.974C= (p.Thr325=) c.100C= c.1129C= (p.Leu377=) c.1346C= (p.Thr449=) | |
| 22 | g.50625443G>T | CA412169418 | ARSA | c.1232C>A (p.Thr411Asn) c.974C>A (p.Thr325Asn) c.100C>A c.1129C>A (p.Leu377Met) c.1346C>A (p.Thr449Asn) | gnomAD v4 |
| 22 | g.50625443_50625452delinsGTGGTATCAC | CA2410958484 | ARSA | c.1223_1232delinsGTGATACCAC (p.Ser408=) c.965_974delinsGTGATACCAC (p.Ser322=) c.91_100delinsGTGATACCAC c.1120_1129delinsGTGATACCAC (p.Val374=) c.1337_1346delinsGTGATACCAC (p.Ser446=) | |
| 22 | g.50625447_50625457del | CA658824683 | ARSA | c.1222_1232del (p.Ser408CysfsTer15) c.964_974del (p.Ser322CysfsTer15) c.90_100del c.1119_1129del (p.Val374AlafsTer?) c.1336_1346del (p.Ser446CysfsTer15) | ClinVar dbSNP |
| 22 | g.50625444T>A | CA412169424 | ARSA | c.1231A>T (p.Thr411Ser) c.973A>T (p.Thr325Ser) c.99A>T c.1128A>T (p.Pro376=) c.1345A>T (p.Thr449Ser) | |
| 22 | g.50625444T>C | CA412169433 | ARSA | c.1231A>G (p.Thr411Ala) c.973A>G (p.Thr325Ala) c.99A>G c.1128A>G (p.Pro376=) c.1345A>G (p.Thr449Ala) | |
| 22 | g.50625444T>G | CA412169436 | ARSA | c.1231A>C (p.Thr411Pro) c.973A>C (p.Thr325Pro) c.99A>C c.1128A>C (p.Pro376=) c.1345A>C (p.Thr449Pro) | dbSNP |
| 22 | g.50625444T= | CA2410958485 | ARSA | c.1231A= (p.Thr411=) c.973A= (p.Thr325=) c.99A= c.1128A= (p.Pro376=) c.1345A= (p.Thr449=) | |
| 22 | g.50625446_50625454del | CA278488 | ARSA | c.1223_1231del (p.Ser408_Thr410del) c.965_973del (p.Ser322_Thr324del) c.91_99del c.1120_1128del (p.Val374_Pro376del) c.1337_1345del (p.Ser446_Thr448del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50625445G>A | CA515391317 | ARSA | c.1230C>T (p.Thr410=) c.972C>T (p.Thr324=) c.98C>T c.1127C>T (p.Pro376Leu) c.1344C>T (p.Thr448=) | ClinVar dbSNP gnomAD v4 |
| 22 | g.50625445G>C | CA515391322 | ARSA | c.1230C>G (p.Thr410=) c.972C>G (p.Thr324=) c.98C>G c.1127C>G (p.Pro376Arg) c.1344C>G (p.Thr448=) | |
| 22 | g.50625445G>T | CA515391323 | ARSA | c.1230C>A (p.Thr410=) c.972C>A (p.Thr324=) c.98C>A c.1127C>A (p.Pro376Gln) c.1344C>A (p.Thr448=) | |
| 22 | g.50625446G>A | CA116009 | ARSA | c.1229C>T (p.Thr410Ile) c.971C>T (p.Thr324Ile) c.97C>T c.1126C>T (p.Pro376Ser) c.1343C>T (p.Thr448Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625446G>C | CA412169442 | ARSA | c.1229C>G (p.Thr410Ser) c.971C>G (p.Thr324Ser) c.97C>G c.1126C>G (p.Pro376Ala) c.1343C>G (p.Thr448Ser) | |
| 22 | g.50625446G= | CA2410958486 | ARSA | c.1229C= (p.Thr410=) c.971C= (p.Thr324=) c.97C= c.1126C= (p.Pro376=) c.1343C= (p.Thr448=) | |
| 22 | g.50625446G>T | CA412169447 | ARSA | c.1229C>A (p.Thr410Asn) c.971C>A (p.Thr324Asn) c.97C>A c.1126C>A (p.Pro376Thr) c.1343C>A (p.Thr448Asn) | gnomAD v4 |
| 22 | g.50625446_50625447del | CA2499226240 | ARSA | c.1228_1229del (p.Thr410HisfsTer16) c.970_971del (p.Thr324HisfsTer16) c.96_97del c.1125_1126del (p.Pro376ThrfsTer?) c.1342_1343del (p.Thr448HisfsTer16) | ClinVar dbSNP |
| 22 | g.50625446_50625448delinsGTA | CA2410958487 | ARSA | c.1227_1229delinsTAC (p.Asp409=) c.969_971delinsTAC (p.Asp323=) c.95_97delinsTAC c.1124_1126delinsTAC (p.Ile375=) c.1341_1343delinsTAC (p.Asp447=) | |
| 22 | g.50625447T>A | CA412169452 | ARSA | c.1228A>T (p.Thr410Ser) c.970A>T (p.Thr324Ser) c.96A>T c.1125A>T (p.Ile375=) c.1342A>T (p.Thr448Ser) | |
| 22 | g.50625447T>C | CA412169457 | ARSA | c.1228A>G (p.Thr410Ala) c.970A>G (p.Thr324Ala) c.96A>G c.1125A>G (p.Ile375Met) c.1342A>G (p.Thr448Ala) | gnomAD v4 |
| 22 | g.50625447T>G | CA412169469 | ARSA | c.1228A>C (p.Thr410Pro) c.970A>C (p.Thr324Pro) c.96A>C c.1125A>C (p.Ile375=) c.1342A>C (p.Thr448Pro) | |
| 22 | g.50625447dup | CA2573158299 | ARSA | c.1228dup (p.Thr410AsnfsTer17) c.970dup (p.Thr324AsnfsTer17) c.96dup c.1125dup (p.Pro376ThrfsTer?) c.1342dup (p.Thr448AsnfsTer17) | ClinVar dbSNP |
| 22 | g.50625448_50625449del | CA1139667192 | ARSA | c.1227_1228del (p.Thr410HisfsTer16) c.969_970del (p.Thr324HisfsTer16) c.95_96del c.1124_1125del (p.Ile375ThrfsTer?) c.1341_1342del (p.Thr448HisfsTer16) | ClinVar dbSNP |
| 22 | g.50625448A>C | CA412169475 | ARSA | c.1227T>G (p.Asp409Glu) c.969T>G (p.Asp323Glu) c.95T>G c.1124T>G (p.Ile375Arg) c.1341T>G (p.Asp447Glu) | |
| 22 | g.50625448A>G | CA515391336 | ARSA | c.1227T>C (p.Asp409=) c.969T>C (p.Asp323=) c.95T>C c.1124T>C (p.Ile375Thr) c.1341T>C (p.Asp447=) | ClinVar gnomAD v4 |
| 22 | g.50625448A>T | CA412169478 | ARSA | c.1227T>A (p.Asp409Glu) c.969T>A (p.Asp323Glu) c.95T>A c.1124T>A (p.Ile375Lys) c.1341T>A (p.Asp447Glu) | |
| 22 | g.50625449T>A | CA412169488 | ARSA | c.1226A>T (p.Asp409Val) c.968A>T (p.Asp323Val) c.94A>T c.1123A>T (p.Ile375Leu) c.1340A>T (p.Asp447Val) | |
| 22 | g.50625449T>C | CA412169486 | ARSA | c.1226A>G (p.Asp409Gly) c.968A>G (p.Asp323Gly) c.94A>G c.1123A>G (p.Ile375Val) c.1340A>G (p.Asp447Gly) | |
| 22 | g.50625449T>G | CA412169485 | ARSA | c.1226A>C (p.Asp409Ala) c.968A>C (p.Asp323Ala) c.94A>C c.1123A>C (p.Ile375Leu) c.1340A>C (p.Asp447Ala) | |
| 22 | g.50625450C>A | CA412169494 | ARSA | c.1225G>T (p.Asp409Tyr) c.967G>T (p.Asp323Tyr) c.93G>T c.1122G>T (p.Val374=) c.1339G>T (p.Asp447Tyr) | |
| 22 | g.50625450C>G | CA412169499 | ARSA | c.1225G>C (p.Asp409His) c.967G>C (p.Asp323His) c.93G>C c.1122G>C (p.Val374=) c.1339G>C (p.Asp447His) | |
| 22 | g.50625450C>T | CA412169500 | ARSA | c.1225G>A (p.Asp409Asn) c.967G>A (p.Asp323Asn) c.93G>A c.1122G>A (p.Val374=) c.1339G>A (p.Asp447Asn) | COSMIC |