22 | g.42060903_42060915del | CA2577736655 | NAGA | c.1101+9_1101+21del (n.1101+9_1101+21del)
| |
22 | g.42060904G>A | CA2657021376 | NAGA | c.1101+20C>T (n.1101+20C>T)
| gnomAD v4 |
22 | g.42060906A>G | CA2657021377 | NAGA | c.1101+18T>C (n.1101+18T>C)
| gnomAD v4 |
22 | g.42060906A>T | CA2657021378 | NAGA | c.1101+18T>A (n.1101+18T>A)
| gnomAD v4 |
22 | g.42060908G>A | CA2657021379 | NAGA | c.1101+16C>T (n.1101+16C>T)
| gnomAD v4 |
22 | g.42060908_42060910delinsGCA | CA2406547690 | NAGA | c.1101+14_1101+16delinsTGC (n.1101+14_1101+16delinsTGC)
| |
22 | g.42060909_42060910del | CA10263600 | NAGA | c.1101+14_1101+15del (n.1101+14_1101+15del)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.42060911G>T | CA2819057005 | NAGA | c.1101+13C>A (n.1101+13C>A)
| |
22 | g.42060912C= | CA2406547691 | NAGA | c.1101+12G= (n.1101+12G=)
| |
22 | g.42060912C>T | CA639474004 | NAGA | c.1101+12G>A (n.1101+12G>A)
| dbSNP gnomAD v2 gnomAD v4 |
22 | g.42060913del | CA2537130471 | NAGA | c.1101+12del (n.1101+12del)
| |
22 | g.42060913C= | CA2406547692 | NAGA | c.1101+11G= (n.1101+11G=)
| |
22 | g.42060913C>G | CA324650110 | NAGA | c.1101+11G>C (n.1101+11G>C)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
22 | g.42060913C>T | CA10263601 | NAGA | c.1101+11G>A (n.1101+11G>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.42060914G>A | CA1025941884 | NAGA | c.1101+10C>T (n.1101+10C>T)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
22 | g.42060914G>C | CA2697552785 | NAGA | c.1101+10C>G (n.1101+10C>G)
| ClinVar |
22 | g.42060914G= | CA2406547693 | NAGA | c.1101+10C= (n.1101+10C=)
| |
22 | g.42060914G>T | CA2577736656 | NAGA | c.1101+10C>A (n.1101+10C>A)
| |
22 | g.42060915G>A | CA10263602 | NAGA | c.1101+9C>T (n.1101+9C>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.42060915G= | CA2406547694 | NAGA | c.1101+9C= (n.1101+9C=)
| |
22 | g.42060916G>A | CA2406547696 | NAGA | c.1101+8C>T (n.1101+8C>T)
| dbSNP gnomAD v4 |
22 | g.42060916G= | CA2406547695 | NAGA | c.1101+8C= (n.1101+8C=)
| |
22 | g.42060917T>G | CA2406547698 | NAGA | c.1101+7A>C (n.1101+7A>C)
| dbSNP gnomAD v4 |
22 | g.42060917T= | CA2406547697 | NAGA | c.1101+7A= (n.1101+7A=)
| |
22 | g.42060919C= | CA2406547699 | NAGA | c.1101+5G= (n.1101+5G=)
| |
22 | g.42060919C>G | CA639474009 | NAGA | c.1101+5G>C (n.1101+5G>C)
| dbSNP gnomAD v2 gnomAD v4 |
22 | g.42060921C= | CA2406547700 | NAGA | c.1101+3G= (n.1101+3G=)
| |
22 | g.42060921C>T | CA2406547701 | NAGA | c.1101+3G>A (n.1101+3G>A)
| dbSNP |
22 | g.42060922A>C | CA411766020 | NAGA | c.1101+2T>G (n.1101+2T>G)
| |
22 | g.42060922A>G | CA411766021 | NAGA | c.1101+2T>C (n.1101+2T>C)
| |
22 | g.42060922A>T | CA411766022 | NAGA | c.1101+2T>A (n.1101+2T>A)
| |
22 | g.42060923C>A | CA411766025 | NAGA | c.1101+1G>T (n.1101+1G>T)
| |
22 | g.42060923C>G | CA411766023 | NAGA | c.1101+1G>C (n.1101+1G>C)
| |
22 | g.42060923C>T | CA411766024 | NAGA | c.1101+1G>A (n.1101+1G>A)
| gnomAD v4 |
22 | g.42060924C>A | CA411766026 | NAGA | c.1101G>T (p.Glu367Asp)
| |
22 | g.42060924C>G | CA411766027 | NAGA | c.1101G>C (p.Glu367Asp)
| |
22 | g.42060924C>T | CA514676462 | NAGA | c.1101G>A (p.Glu367=)
| gnomAD v4 |
22 | g.42060925T>A | CA411766028 | NAGA | c.1100A>T (p.Glu367Val)
| |
22 | g.42060925T>C | CA411766029 | NAGA | c.1100A>G (p.Glu367Gly)
| |
22 | g.42060925T>G | CA411766030 | NAGA | c.1100A>C (p.Glu367Ala)
| |
22 | g.42060926C>A | CA411766032 | NAGA | c.1099G>T (p.Glu367Ter)
| |
22 | g.42060926C= | CA2406547702 | NAGA | c.1099G= (p.Glu367=)
| |
22 | g.42060926C>G | CA411766031 | NAGA | c.1099G>C (p.Glu367Gln)
| |
22 | g.42060926C>T | CA10263603 | NAGA | c.1099G>A (p.Glu367Lys)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.42060926_42060927del | CA2657021380 | NAGA | c.1098_1099del (p.Tyr366Ter)
| gnomAD v4 |
22 | g.42060926_42060928delinsCAT | CA2406547703 | NAGA | c.1097_1099delinsATG (p.Tyr366=)
| |
22 | g.42060927A= | CA2406547704 | NAGA | c.1098T= (p.Tyr366=)
| |
22 | g.42060927A>C | CA411766033 | NAGA | c.1098T>G (p.Tyr366Ter)
| |
22 | g.42060927A>G | CA10263604 | NAGA | c.1098T>C (p.Tyr366=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.42060927A>T | CA411766034 | NAGA | c.1098T>A (p.Tyr366Ter)
| dbSNP |
22 | g.42060931_42060932del | CA915951390 | NAGA | c.1097_1098del (p.Tyr366Ter)
| ClinVar dbSNP gnomAD v4 |
22 | g.42060928T>A | CA411766035 | NAGA | c.1097A>T (p.Tyr366Phe)
| |
22 | g.42060928T>C | CA411766036 | NAGA | c.1097A>G (p.Tyr366Cys)
| gnomAD v4 |
22 | g.42060928T>G | CA411766037 | NAGA | c.1097A>C (p.Tyr366Ser)
| |
22 | g.42060929A= | CA2406547705 | NAGA | c.1096T= (p.Tyr366=)
| |
22 | g.42060929A>C | CA411766038 | NAGA | c.1096T>G (p.Tyr366Asp)
| |
22 | g.42060929A>G | CA10263605 | NAGA | c.1096T>C (p.Tyr366His)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.42060929A>T | CA411766039 | NAGA | c.1096T>A (p.Tyr366Asn)
| gnomAD v4 |
22 | g.42060930T>A | CA514676468 | NAGA | c.1095A>T (p.Ile365=)
| |
22 | g.42060930T>C | CA10263606 | NAGA | c.1095A>G (p.Ile365Met)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.42060930T>G | CA514676467 | NAGA | c.1095A>C (p.Ile365=)
| |
22 | g.42060930T= | CA2406547706 | NAGA | c.1095A= (p.Ile365=)
| |
22 | g.42060931A>C | CA411766040 | NAGA | c.1094T>G (p.Ile365Arg)
| |
22 | g.42060931A>G | CA411766041 | NAGA | c.1094T>C (p.Ile365Thr)
| |
22 | g.42060931A>T | CA411766042 | NAGA | c.1094T>A (p.Ile365Lys)
| |
22 | g.42060932T>A | CA411766043 | NAGA | c.1093A>T (p.Ile365Leu)
| |
22 | g.42060932T>C | CA411766045 | NAGA | c.1093A>G (p.Ile365Val)
| |
22 | g.42060932T>G | CA411766044 | NAGA | c.1093A>C (p.Ile365Leu)
| |
22 | g.42060933C>A | CA514676471 | NAGA | c.1092G>T (p.Val364=)
| |
22 | g.42060933C>G | CA514676470 | NAGA | c.1092G>C (p.Val364=)
| |
22 | g.42060933C>T | CA514676472 | NAGA | c.1092G>A (p.Val364=)
| |
22 | g.42060934A>C | CA411766046 | NAGA | c.1091T>G (p.Val364Gly)
| |
22 | g.42060934A>G | CA411766047 | NAGA | c.1091T>C (p.Val364Ala)
| |
22 | g.42060934A>T | CA411766048 | NAGA | c.1091T>A (p.Val364Glu)
| |
22 | g.42060935C>A | CA411766049 | NAGA | c.1090G>T (p.Val364Leu)
| |
22 | g.42060935C>G | CA411766050 | NAGA | c.1090G>C (p.Val364Leu)
| |
22 | g.42060935C>T | CA411766051 | NAGA | c.1090G>A (p.Val364Met)
| |
22 | g.42060936A= | CA2406547707 | NAGA | c.1089T= (p.Ser363=)
| |
22 | g.42060936A>C | CA514676474 | NAGA | c.1089T>G (p.Ser363=)
| ClinVar dbSNP gnomAD v4 |
22 | g.42060936A>G | CA514676476 | NAGA | c.1089T>C (p.Ser363=)
| gnomAD v4 |
22 | g.42060936A>T | CA514676478 | NAGA | c.1089T>A (p.Ser363=)
| |
22 | g.42060937G>A | CA10263607 | NAGA | c.1088C>T (p.Ser363Phe)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.42060937G>C | CA411766052 | NAGA | c.1088C>G (p.Ser363Cys)
| |
22 | g.42060937G= | CA2406547708 | NAGA | c.1088C= (p.Ser363=)
| |
22 | g.42060937G>T | CA411766053 | NAGA | c.1088C>A (p.Ser363Tyr)
| |
22 | g.42060938A>C | CA411766054 | NAGA | c.1087T>G (p.Ser363Ala)
| |
22 | g.42060938A>G | CA411766055 | NAGA | c.1087T>C (p.Ser363Pro)
| gnomAD v4 |
22 | g.42060938A>T | CA411766056 | NAGA | c.1087T>A (p.Ser363Thr)
| |
22 | g.42060939C>A | CA514676479 | NAGA | c.1086G>T (p.Gly362=)
| |
22 | g.42060939C>G | CA514676480 | NAGA | c.1086G>C (p.Gly362=)
| |
22 | g.42060939C>T | CA514676481 | NAGA | c.1086G>A (p.Gly362=)
| |
22 | g.42060940C>A | CA10263608 | NAGA | c.1085G>T (p.Gly362Val)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.42060940C= | CA2406547709 | NAGA | c.1085G= (p.Gly362=)
| |
22 | g.42060940C>G | CA411766057 | NAGA | c.1085G>C (p.Gly362Ala)
| |
22 | g.42060940C>T | CA10263609 | NAGA | c.1085G>A (p.Gly362Glu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.42060941C>A | CA10263610 | NAGA | c.1084G>T (p.Gly362Trp)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.42060941C= | CA2406547710 | NAGA | c.1084G= (p.Gly362=)
| |
22 | g.42060941C>G | CA411766058 | NAGA | c.1084G>C (p.Gly362Arg)
| |
22 | g.42060941C>T | CA411766059 | NAGA | c.1084G>A (p.Gly362Arg)
| ClinVar dbSNP gnomAD v4 |
22 | g.42060942G>A | CA10263611 | NAGA | c.1083C>T (p.Thr361=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.42060942G>C | CA514676483 | NAGA | c.1083C>G (p.Thr361=)
| gnomAD v4 |
22 | g.42060942G= | CA2406547711 | NAGA | c.1083C= (p.Thr361=)
| |
22 | g.42060942G>T | CA514676482 | NAGA | c.1083C>A (p.Thr361=)
| ClinVar |
22 | g.42060943G>A | CA411766062 | NAGA | c.1082C>T (p.Thr361Ile)
| dbSNP |
22 | g.42060943G>C | CA411766061 | NAGA | c.1082C>G (p.Thr361Ser)
| |
22 | g.42060943G= | CA2406547712 | NAGA | c.1082C= (p.Thr361=)
| |
22 | g.42060943G>T | CA411766060 | NAGA | c.1082C>A (p.Thr361Asn)
| |
22 | g.42060944T>A | CA411766063 | NAGA | c.1081A>T (p.Thr361Ser)
| |
22 | g.42060944T>C | CA411766064 | NAGA | c.1081A>G (p.Thr361Ala)
| gnomAD v4 |
22 | g.42060944T>G | CA411766065 | NAGA | c.1081A>C (p.Thr361Pro)
| |
22 | g.42060945del | CA2657021381 | NAGA | c.1080del (p.Phe360LeufsTer5)
| gnomAD v4 |
22 | g.42060945G>A | CA10263612 | NAGA | c.1080C>T (p.Phe360=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.42060945G>C | CA411766066 | NAGA | c.1080C>G (p.Phe360Leu)
| |
22 | g.42060945G= | CA2406547713 | NAGA | c.1080C= (p.Phe360=)
| |
22 | g.42060945G>T | CA411766067 | NAGA | c.1080C>A (p.Phe360Leu)
| |
22 | g.42060946A>C | CA411766068 | NAGA | c.1079T>G (p.Phe360Cys)
| |
22 | g.42060946A>G | CA411766070 | NAGA | c.1079T>C (p.Phe360Ser)
| |
22 | g.42060946A>T | CA411766069 | NAGA | c.1079T>A (p.Phe360Tyr)
| |
22 | g.42060947A>C | CA411766071 | NAGA | c.1078T>G (p.Phe360Val)
| |
22 | g.42060947A>G | CA411766073 | NAGA | c.1078T>C (p.Phe360Leu)
| |
22 | g.42060947A>T | CA411766072 | NAGA | c.1078T>A (p.Phe360Ile)
| |
22 | g.42060948G>A | CA514676484 | NAGA | c.1077C>T (p.Asn359=)
| |
22 | g.42060948G>C | CA411766074 | NAGA | c.1077C>G (p.Asn359Lys)
| |
22 | g.42060948G>T | CA411766075 | NAGA | c.1077C>A (p.Asn359Lys)
| |
22 | g.42060949T>A | CA411766076 | NAGA | c.1076A>T (p.Asn359Ile)
| |
22 | g.42060949T>C | CA411766077 | NAGA | c.1076A>G (p.Asn359Ser)
| |
22 | g.42060949T>G | CA411766078 | NAGA | c.1076A>C (p.Asn359Thr)
| |
22 | g.42060950T>A | CA411766079 | NAGA | c.1075A>T (p.Asn359Tyr)
| |
22 | g.42060950T>C | CA411766080 | NAGA | c.1075A>G (p.Asn359Asp)
| |
22 | g.42060950T>G | CA411766081 | NAGA | c.1075A>C (p.Asn359His)
| |
22 | g.42060951C>A | CA514676485 | NAGA | c.1074G>T (p.Leu358=)
| |
22 | g.42060951C= | CA2406547714 | NAGA | c.1074G= (p.Leu358=)
| |
22 | g.42060951C>G | CA514676486 | NAGA | c.1074G>C (p.Leu358=)
| |
22 | g.42060951C>T | CA10263613 | NAGA | c.1074G>A (p.Leu358=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.42060952A>C | CA411766082 | NAGA | c.1073T>G (p.Leu358Arg)
| |
22 | g.42060952A>G | CA411766083 | NAGA | c.1073T>C (p.Leu358Pro)
| |
22 | g.42060952A>T | CA411766084 | NAGA | c.1073T>A (p.Leu358Gln)
| |
22 | g.42060953G>A | CA514676487 | NAGA | c.1072C>T (p.Leu358=)
| |
22 | g.42060953G>C | CA411766085 | NAGA | c.1072C>G (p.Leu358Val)
| gnomAD v4 |
22 | g.42060953G>T | CA411766086 | NAGA | c.1072C>A (p.Leu358Met)
| |
22 | g.42060954C>A | CA411766087 | NAGA | c.1071G>T (p.Gln357His)
| |
22 | g.42060954C>G | CA411766088 | NAGA | c.1071G>C (p.Gln357His)
| |
22 | g.42060954C>T | CA514676488 | NAGA | c.1071G>A (p.Gln357=)
| |
22 | g.42060955T>A | CA411766089 | NAGA | c.1070A>T (p.Gln357Leu)
| |
22 | g.42060955T>C | CA411766090 | NAGA | c.1070A>G (p.Gln357Arg)
| |
22 | g.42060955T>G | CA411766091 | NAGA | c.1070A>C (p.Gln357Pro)
| |
22 | g.42060956G>A | CA411766092 | NAGA | c.1069C>T (p.Gln357Ter)
| gnomAD v4 COSMIC |
22 | g.42060956G>C | CA411766093 | NAGA | c.1069C>G (p.Gln357Glu)
| |
22 | g.42060956G>T | CA411766094 | NAGA | c.1069C>A (p.Gln357Lys)
| |
22 | g.42060957G>A | CA514676490 | NAGA | c.1068C>T (p.Gly356=)
| |
22 | g.42060957G>C | CA514676489 | NAGA | c.1068C>G (p.Gly356=)
| |
22 | g.42060957G>T | CA514676491 | NAGA | c.1068C>A (p.Gly356=)
| |
22 | g.42060958C>A | CA411766095 | NAGA | c.1067G>T (p.Gly356Val)
| |
22 | g.42060958C= | CA2406547715 | NAGA | c.1067G= (p.Gly356=)
| |
22 | g.42060958C>G | CA411766096 | NAGA | c.1067G>C (p.Gly356Ala)
| gnomAD v4 |
22 | g.42060958C>T | CA411766097 | NAGA | c.1067G>A (p.Gly356Asp)
| dbSNP |
22 | g.42060959C>A | CA411766098 | NAGA | c.1066G>T (p.Gly356Cys)
| |
22 | g.42060959C= | CA2406547716 | NAGA | c.1066G= (p.Gly356=)
| |
22 | g.42060959C>G | CA411766099 | NAGA | c.1066G>C (p.Gly356Arg)
| |
22 | g.42060959C>T | CA10263614 | NAGA | c.1066G>A (p.Gly356Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.42060960A>C | CA514676493 | NAGA | c.1065T>G (p.Leu355=)
| |
22 | g.42060960A>G | CA514676494 | NAGA | c.1065T>C (p.Leu355=)
| |
22 | g.42060960A>T | CA514676495 | NAGA | c.1065T>A (p.Leu355=)
| |
22 | g.42060961A>C | CA411766100 | NAGA | c.1064T>G (p.Leu355Arg)
| |
22 | g.42060961A>G | CA411766101 | NAGA | c.1064T>C (p.Leu355Pro)
| |
22 | g.42060961A>T | CA411766102 | NAGA | c.1064T>A (p.Leu355His)
| |
22 | g.42060962G>A | CA411766103 | NAGA | c.1063C>T (p.Leu355Phe)
| |
22 | g.42060962G>C | CA411766104 | NAGA | c.1063C>G (p.Leu355Val)
| |
22 | g.42060962G>T | CA411766105 | NAGA | c.1063C>A (p.Leu355Ile)
| |
22 | g.42060963G>A | CA514676496 | NAGA | c.1062C>T (p.Ser354=)
| |
22 | g.42060963G>C | CA514676497 | NAGA | c.1062C>G (p.Ser354=)
| |
22 | g.42060963G>T | CA514676498 | NAGA | c.1062C>A (p.Ser354=)
| |
22 | g.42060964G>A | CA411766106 | NAGA | c.1061C>T (p.Ser354Phe)
| |
22 | g.42060964G>C | CA411766107 | NAGA | c.1061C>G (p.Ser354Cys)
| |
22 | g.42060964G>T | CA411766108 | NAGA | c.1061C>A (p.Ser354Tyr)
| |
22 | g.42060965A>C | CA411766109 | NAGA | c.1060T>G (p.Ser354Ala)
| |
22 | g.42060965A>G | CA411766110 | NAGA | c.1060T>C (p.Ser354Pro)
| |
22 | g.42060965A>T | CA411766111 | NAGA | c.1060T>A (p.Ser354Thr)
| |
22 | g.42060966G>A | CA514676499 | NAGA | c.1059C>T (p.Ser353=)
| |
22 | g.42060966G>C | CA514676500 | NAGA | c.1059C>G (p.Ser353=)
| |
22 | g.42060966G>T | CA514676501 | NAGA | c.1059C>A (p.Ser353=)
| |
22 | g.42060967del | CA2657021382 | NAGA | c.1059del (p.Ser354ProfsTer5)
| gnomAD v4 |
22 | g.42060967G>A | CA411766113 | NAGA | c.1058C>T (p.Ser353Phe)
| COSMIC |
22 | g.42060967G>C | CA411766114 | NAGA | c.1058C>G (p.Ser353Cys)
| |
22 | g.42060967G>T | CA411766112 | NAGA | c.1058C>A (p.Ser353Tyr)
| |
22 | g.42060968A= | CA2406547717 | NAGA | c.1057T= (p.Ser353=)
| |
22 | g.42060968A>C | CA411766115 | NAGA | c.1057T>G (p.Ser353Ala)
| dbSNP gnomAD v3 gnomAD v4 |
22 | g.42060968A>G | CA411766116 | NAGA | c.1057T>C (p.Ser353Pro)
| |
22 | g.42060968A>T | CA411766117 | NAGA | c.1057T>A (p.Ser353Thr)
| |
22 | g.42060969G>A | CA514676502 | NAGA | c.1056C>T (p.His352=)
| |
22 | g.42060969G>C | CA411766118 | NAGA | c.1056C>G (p.His352Gln)
| |
22 | g.42060969G>T | CA411766119 | NAGA | c.1056C>A (p.His352Gln)
| |
22 | g.42060970T>A | CA411766122 | NAGA | c.1055A>T (p.His352Leu)
| |
22 | g.42060970T>C | CA411766120 | NAGA | c.1055A>G (p.His352Arg)
| |
22 | g.42060970T>G | CA411766121 | NAGA | c.1055A>C (p.His352Pro)
| |
22 | g.42060971G>A | CA411766123 | NAGA | c.1054C>T (p.His352Tyr)
| |
22 | g.42060971G>C | CA411766124 | NAGA | c.1054C>G (p.His352Asp)
| |
22 | g.42060971G>T | CA411766125 | NAGA | c.1054C>A (p.His352Asn)
| |
22 | g.42060972G>A | CA324650169 | NAGA | c.1053C>T (p.Tyr351=)
| dbSNP gnomAD v3 gnomAD v4 |
22 | g.42060972G>C | CA411766126 | NAGA | c.1053C>G (p.Tyr351Ter)
| |
22 | g.42060972G= | CA2406547718 | NAGA | c.1053C= (p.Tyr351=)
| |
22 | g.42060972G>T | CA411766127 | NAGA | c.1053C>A (p.Tyr351Ter)
| |
22 | g.42060973T>A | CA411766128 | NAGA | c.1052A>T (p.Tyr351Phe)
| |
22 | g.42060973T>C | CA411766130 | NAGA | c.1052A>G (p.Tyr351Cys)
| |
22 | g.42060973T>G | CA411766129 | NAGA | c.1052A>C (p.Tyr351Ser)
| |
22 | g.42060974A>C | CA411766131 | NAGA | c.1051T>G (p.Tyr351Asp)
| |
22 | g.42060974A>G | CA411766133 | NAGA | c.1051T>C (p.Tyr351His)
| COSMIC |
22 | g.42060974A>T | CA411766132 | NAGA | c.1051T>A (p.Tyr351Asn)
| |
22 | g.42060975G>A | CA514676503 | NAGA | c.1050C>T (p.Arg350=)
| |
22 | g.42060975G>C | CA514676504 | NAGA | c.1050C>G (p.Arg350=)
| |
22 | g.42060975G>T | CA514676505 | NAGA | c.1050C>A (p.Arg350=)
| |
22 | g.42060976C>A | CA411766134 | NAGA | c.1049G>T (p.Arg350Leu)
| |
22 | g.42060976C= | CA2406547719 | NAGA | c.1049G= (p.Arg350=)
| |
22 | g.42060976C>G | CA411766138 | NAGA | c.1049G>C (p.Arg350Pro)
| |
22 | g.42060976C>T | CA10263615 | NAGA | c.1049G>A (p.Arg350His)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.42060977G>A | CA411766141 | NAGA | c.1048C>T (p.Arg350Cys)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.42060977G>C | CA411766143 | NAGA | c.1048C>G (p.Arg350Gly)
| |
22 | g.42060977G= | CA2406547720 | NAGA | c.1048C= (p.Arg350=)
| |
22 | g.42060977G>T | CA411766146 | NAGA | c.1048C>A (p.Arg350Ser)
| gnomAD v4 |
22 | g.42060978A>C | CA411766149 | NAGA | c.1047T>G (p.Tyr349Ter)
| ClinVar |
22 | g.42060978A>G | CA514676506 | NAGA | c.1047T>C (p.Tyr349=)
| |
22 | g.42060978A>T | CA411766151 | NAGA | c.1047T>A (p.Tyr349Ter)
| |
22 | g.42060979T>A | CA10263616 | NAGA | c.1046A>T (p.Tyr349Phe)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.42060979T>C | CA411766155 | NAGA | c.1046A>G (p.Tyr349Cys)
| dbSNP gnomAD v2 gnomAD v4 |
22 | g.42060979T>G | CA411766157 | NAGA | c.1046A>C (p.Tyr349Ser)
| |
22 | g.42060979T= | CA2406547721 | NAGA | c.1046A= (p.Tyr349=)
| |
22 | g.42060980A= | CA2406547722 | NAGA | c.1045T= (p.Tyr349=)
| |
22 | g.42060980A>C | CA411766161 | NAGA | c.1045T>G (p.Tyr349Asp)
| |
22 | g.42060980A>G | CA10263617 | NAGA | c.1045T>C (p.Tyr349His)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.42060980A>T | CA411766165 | NAGA | c.1045T>A (p.Tyr349Asn)
| |
22 | g.42060981A>C | CA514676507 | NAGA | c.1044T>G (p.Pro348=)
| |
22 | g.42060981A>G | CA514676509 | NAGA | c.1044T>C (p.Pro348=)
| |
22 | g.42060981A>T | CA514676508 | NAGA | c.1044T>A (p.Pro348=)
| |
22 | g.42060982G>A | CA411766172 | NAGA | c.1043C>T (p.Pro348Leu)
| |
22 | g.42060982G>C | CA411766170 | NAGA | c.1043C>G (p.Pro348Arg)
| |
22 | g.42060982G>T | CA411766169 | NAGA | c.1043C>A (p.Pro348His)
| |
22 | g.42060983dup | CA2657021383 | NAGA | c.1043dup (p.Tyr349LeufsTer19)
| gnomAD v4 |
22 | g.42060983del | CA2819057006 | NAGA | c.1043del (p.Pro348LeufsTer11)
| |
22 | g.42060983G>A | CA411766175 | NAGA | c.1042C>T (p.Pro348Ser)
| COSMIC |
22 | g.42060983G>C | CA411766177 | NAGA | c.1042C>G (p.Pro348Ala)
| dbSNP gnomAD v3 gnomAD v4 |
22 | g.42060983G= | CA2406547723 | NAGA | c.1042C= (p.Pro348=)
| |
22 | g.42060983G>T | CA411766180 | NAGA | c.1042C>A (p.Pro348Thr)
| |
22 | g.42060984C>A | CA411766183 | NAGA | c.1041G>T (p.Met347Ile)
| |
22 | g.42060984C>G | CA411766186 | NAGA | c.1041G>C (p.Met347Ile)
| |
22 | g.42060984C>T | CA411766188 | NAGA | c.1041G>A (p.Met347Ile)
| |
22 | g.42060985A= | CA2406547724 | NAGA | c.1040T= (p.Met347=)
| |
22 | g.42060985A>C | CA411766191 | NAGA | c.1040T>G (p.Met347Arg)
| |
22 | g.42060985A>G | CA10263618 | NAGA | c.1040T>C (p.Met347Thr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.42060985A>T | CA411766196 | NAGA | c.1040T>A (p.Met347Lys)
| |
22 | g.42060986T>A | CA411766200 | NAGA | c.1039A>T (p.Met347Leu)
| |
22 | g.42060986T>C | CA411766202 | NAGA | c.1039A>G (p.Met347Val)
| dbSNP |
22 | g.42060986T>G | CA411766204 | NAGA | c.1039A>C (p.Met347Leu)
| |
22 | g.42060986T= | CA2406547726 | NAGA | c.1039A= (p.Met347=)
| |
22 | g.42060986dup | CA2406547725 | NAGA | c.1039dup (p.Met347AsnfsTer21)
| dbSNP |
22 | g.42060987A>C | CA411766207 | NAGA | c.1038T>G (p.Asp346Glu)
| |
22 | g.42060987A>G | CA514676510 | NAGA | c.1038T>C (p.Asp346=)
| gnomAD v4 |
22 | g.42060987A>T | CA411766209 | NAGA | c.1038T>A (p.Asp346Glu)
| |
22 | g.42060988T>A | CA411766211 | NAGA | c.1037A>T (p.Asp346Val)
| |
22 | g.42060988T>C | CA411766213 | NAGA | c.1037A>G (p.Asp346Gly)
| gnomAD v4 |
22 | g.42060988T>G | CA411766215 | NAGA | c.1037A>C (p.Asp346Ala)
| |
22 | g.42060989C>A | CA411766219 | NAGA | c.1036G>T (p.Asp346Tyr)
| |
22 | g.42060989C= | CA2406547727 | NAGA | c.1036G= (p.Asp346=)
| |
22 | g.42060989C>G | CA411766221 | NAGA | c.1036G>C (p.Asp346His)
| dbSNP gnomAD v3 gnomAD v4 |
22 | g.42060989C>T | CA10263619 | NAGA | c.1036G>A (p.Asp346Asn)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.42060990G>A | CA10263620 | NAGA | c.1035C>T (p.Thr345=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.42060990G>C | CA514676511 | NAGA | c.1035C>G (p.Thr345=)
| gnomAD v4 |
22 | g.42060990G= | CA2406547728 | NAGA | c.1035C= (p.Thr345=)
| |
22 | g.42060990G>T | CA514676512 | NAGA | c.1035C>A (p.Thr345=)
| |
22 | g.42060991G>A | CA411766229 | NAGA | c.1034C>T (p.Thr345Ile)
| gnomAD v4 COSMIC |
22 | g.42060991G>C | CA411766230 | NAGA | c.1034C>G (p.Thr345Ser)
| |
22 | g.42060991G>T | CA411766233 | NAGA | c.1034C>A (p.Thr345Asn)
| gnomAD v4 |
22 | g.42060992T>A | CA411766236 | NAGA | c.1033A>T (p.Thr345Ser)
| |
22 | g.42060992T>C | CA411766238 | NAGA | c.1033A>G (p.Thr345Ala)
| |
22 | g.42060992T>G | CA411766239 | NAGA | c.1033A>C (p.Thr345Pro)
| |
22 | g.42060993C>A | CA411766244 | NAGA | c.1032G>T (p.Arg344Ser)
| |
22 | g.42060993C>G | CA411766241 | NAGA | c.1032G>C (p.Arg344Ser)
| |
22 | g.42060993C>T | CA514676513 | NAGA | c.1032G>A (p.Arg344=)
| gnomAD v4 |
22 | g.42060994C>A | CA411766248 | NAGA | c.1031G>T (p.Arg344Met)
| |
22 | g.42060994C>G | CA411766250 | NAGA | c.1031G>C (p.Arg344Thr)
| |
22 | g.42060994C>T | CA411766252 | NAGA | c.1031G>A (p.Arg344Lys)
| |
22 | g.42060995T>A | CA411766255 | NAGA | c.1030A>T (p.Arg344Trp)
| |
22 | g.42060995T>C | CA411766257 | NAGA | c.1030A>G (p.Arg344Gly)
| gnomAD v4 COSMIC |
22 | g.42060995T>G | CA514676514 | NAGA | c.1030A>C (p.Arg344=)
| |
22 | g.42060996G>A | CA514676515 | NAGA | c.1029C>T (p.Cys343=)
| |
22 | g.42060996G>C | CA411766260 | NAGA | c.1029C>G (p.Cys343Trp)
| |
22 | g.42060996G>T | CA411766262 | NAGA | c.1029C>A (p.Cys343Ter)
| ClinVar gnomAD v4 |
22 | g.42060997C>A | CA411766264 | NAGA | c.1028G>T (p.Cys343Phe)
| |
22 | g.42060997C>G | CA411766265 | NAGA | c.1028G>C (p.Cys343Ser)
| |
22 | g.42060997C>T | CA411766266 | NAGA | c.1028G>A (p.Cys343Tyr)
| |
22 | g.42060998A>C | CA411766267 | NAGA | c.1027T>G (p.Cys343Gly)
| |
22 | g.42060998A>G | CA411766268 | NAGA | c.1027T>C (p.Cys343Arg)
| dbSNP |
22 | g.42060998A>T | CA411766269 | NAGA | c.1027T>A (p.Cys343Ser)
| |
22 | g.42060999G>A | CA514676516 | NAGA | c.1026C>T (p.Ser342=)
| |
22 | g.42060999G>C | CA411766271 | NAGA | c.1026C>G (p.Ser342Arg)
| |
22 | g.42060999G>T | CA411766270 | NAGA | c.1026C>A (p.Ser342Arg)
| |
22 | g.42061000C>A | CA411766272 | NAGA | c.1025G>T (p.Ser342Ile)
| dbSNP gnomAD v3 gnomAD v4 |
22 | g.42061000C= | CA2406547729 | NAGA | c.1025G= (p.Ser342=)
| |
22 | g.42061000C>G | CA411766273 | NAGA | c.1025G>C (p.Ser342Thr)
| |
22 | g.42061000C>T | CA411766274 | NAGA | c.1025G>A (p.Ser342Asn)
| |
22 | g.42061001T>A | CA411766275 | NAGA | c.1024A>T (p.Ser342Cys)
| |
22 | g.42061001T>C | CA411766276 | NAGA | c.1024A>G (p.Ser342Gly)
| |
22 | g.42061001T>G | CA411766277 | NAGA | c.1024A>C (p.Ser342Arg)
| |
22 | g.42061001_42061004delinsTGAA | CA2406547730 | NAGA | c.1021_1024delinsTTCA (p.Phe341=)
| |
22 | g.42061002G>A | CA514676517 | NAGA | c.1023C>T (p.Phe341=)
| gnomAD v4 |
22 | g.42061002G>C | CA411766278 | NAGA | c.1023C>G (p.Phe341Leu)
| |
22 | g.42061002G>T | CA411766279 | NAGA | c.1023C>A (p.Phe341Leu)
| |
22 | g.42061007_42061009del | CA2406547731 | NAGA | c.1021_1023del (p.Phe341del)
| dbSNP |
22 | g.42061003A>C | CA411766280 | NAGA | c.1022T>G (p.Phe341Cys)
| |
22 | g.42061003A>G | CA411766281 | NAGA | c.1022T>C (p.Phe341Ser)
| |
22 | g.42061003A>T | CA411766282 | NAGA | c.1022T>A (p.Phe341Tyr)
| |
22 | g.42061004A>C | CA411766283 | NAGA | c.1021T>G (p.Phe341Val)
| |
22 | g.42061004A>G | CA411766284 | NAGA | c.1021T>C (p.Phe341Leu)
| |
22 | g.42061004A>T | CA411766285 | NAGA | c.1021T>A (p.Phe341Ile)
| |