| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.7663615G>A | CA416026480 | CAMTA1 | c.1068G>A (p.Gln356=) c.*919G>A (n.*919G>A) c.978G>A (p.Gln326=) c.996G>A (p.Gln332=) c.*837G>A (n.*837G>A) c.1056G>A (p.Gln352=) | |
| 1 | g.7663615G>C | CA17244069 | CAMTA1 | c.1068G>C (p.Gln356His) c.*919G>C (n.*919G>C) c.978G>C (p.Gln326His) c.996G>C (p.Gln332His) c.*837G>C (n.*837G>C) c.1056G>C (p.Gln352His) | dbSNP |
| 1 | g.7663615G= | CA1152023678 | CAMTA1 | c.1068G= (p.Gln356=) c.*919G= (n.*919G=) c.978G= (p.Gln326=) c.996G= (p.Gln332=) c.*837G= (n.*837G=) c.1056G= (p.Gln352=) | |
| 1 | g.7663615G>T | CA338122980 | CAMTA1 | c.1068G>T (p.Gln356His) c.*919G>T (n.*919G>T) c.978G>T (p.Gln326His) c.996G>T (p.Gln332His) c.*837G>T (n.*837G>T) c.1056G>T (p.Gln352His) | |
| 1 | g.7663616A>C | CA338122982 | CAMTA1 | c.1069A>C (p.Ser357Arg) c.*920A>C (n.*920A>C) c.979A>C (p.Ser327Arg) c.997A>C (p.Ser333Arg) c.*838A>C (n.*838A>C) c.1057A>C (p.Ser353Arg) | |
| 1 | g.7663616A>G | CA338122986 | CAMTA1 | c.1069A>G (p.Ser357Gly) c.*920A>G (n.*920A>G) c.979A>G (p.Ser327Gly) c.997A>G (p.Ser333Gly) c.*838A>G (n.*838A>G) c.1057A>G (p.Ser353Gly) | |
| 1 | g.7663616A>T | CA338122989 | CAMTA1 | c.1069A>T (p.Ser357Cys) c.*920A>T (n.*920A>T) c.979A>T (p.Ser327Cys) c.997A>T (p.Ser333Cys) c.*838A>T (n.*838A>T) c.1057A>T (p.Ser353Cys) | |
| 1 | g.7663617G>A | CA17244074 | CAMTA1 | c.1070G>A (p.Ser357Asn) c.*921G>A (n.*921G>A) c.980G>A (p.Ser327Asn) c.998G>A (p.Ser333Asn) c.*839G>A (n.*839G>A) c.1058G>A (p.Ser353Asn) | dbSNP gnomAD v4 |
| 1 | g.7663617G>C | CA338124369 | CAMTA1 | c.1070G>C (p.Ser357Thr) c.*921G>C (n.*921G>C) c.980G>C (p.Ser327Thr) c.998G>C (p.Ser333Thr) c.*839G>C (n.*839G>C) c.1058G>C (p.Ser353Thr) | |
| 1 | g.7663617G= | CA1152023679 | CAMTA1 | c.1070G= (p.Ser357=) c.*921G= (n.*921G=) c.980G= (p.Ser327=) c.998G= (p.Ser333=) c.*839G= (n.*839G=) c.1058G= (p.Ser353=) | |
| 1 | g.7663617G>T | CA338124378 | CAMTA1 | c.1070G>T (p.Ser357Ile) c.*921G>T (n.*921G>T) c.980G>T (p.Ser327Ile) c.998G>T (p.Ser333Ile) c.*839G>T (n.*839G>T) c.1058G>T (p.Ser353Ile) | |
| 1 | g.7663618C>A | CA338124395 | CAMTA1 | c.1071C>A (p.Ser357Arg) c.*922C>A (n.*922C>A) c.981C>A (p.Ser327Arg) c.999C>A (p.Ser333Arg) c.*840C>A (n.*840C>A) c.1059C>A (p.Ser353Arg) | gnomAD v4 |
| 1 | g.7663618C>G | CA338124385 | CAMTA1 | c.1071C>G (p.Ser357Arg) c.*922C>G (n.*922C>G) c.981C>G (p.Ser327Arg) c.999C>G (p.Ser333Arg) c.*840C>G (n.*840C>G) c.1059C>G (p.Ser353Arg) | |
| 1 | g.7663618C>T | CA416026458 | CAMTA1 | c.1071C>T (p.Ser357=) c.*922C>T (n.*922C>T) c.981C>T (p.Ser327=) c.999C>T (p.Ser333=) c.*840C>T (n.*840C>T) c.1059C>T (p.Ser353=) | |
| 1 | g.7663619T>A | CA338124400 | CAMTA1 | c.1072T>A (p.Ser358Thr) c.*923T>A (n.*923T>A) c.982T>A (p.Ser328Thr) c.1000T>A (p.Ser334Thr) c.*841T>A (n.*841T>A) c.1060T>A (p.Ser354Thr) | COSMIC |
| 1 | g.7663619T>C | CA338124405 | CAMTA1 | c.1072T>C (p.Ser358Pro) c.*923T>C (n.*923T>C) c.982T>C (p.Ser328Pro) c.1000T>C (p.Ser334Pro) c.*841T>C (n.*841T>C) c.1060T>C (p.Ser354Pro) | |
| 1 | g.7663619T>G | CA338124402 | CAMTA1 | c.1072T>G (p.Ser358Ala) c.*923T>G (n.*923T>G) c.982T>G (p.Ser328Ala) c.1000T>G (p.Ser334Ala) c.*841T>G (n.*841T>G) c.1060T>G (p.Ser354Ala) | |
| 1 | g.7663620C>A | CA338124430 | CAMTA1 | c.1073C>A (p.Ser358Tyr) c.*924C>A (n.*924C>A) c.983C>A (p.Ser328Tyr) c.1001C>A (p.Ser334Tyr) c.*842C>A (n.*842C>A) c.1061C>A (p.Ser354Tyr) | |
| 1 | g.7663620C>G | CA338124435 | CAMTA1 | c.1073C>G (p.Ser358Cys) c.*924C>G (n.*924C>G) c.983C>G (p.Ser328Cys) c.1001C>G (p.Ser334Cys) c.*842C>G (n.*842C>G) c.1061C>G (p.Ser354Cys) | |
| 1 | g.7663620C>T | CA338124438 | CAMTA1 | c.1073C>T (p.Ser358Phe) c.*924C>T (n.*924C>T) c.983C>T (p.Ser328Phe) c.1001C>T (p.Ser334Phe) c.*842C>T (n.*842C>T) c.1061C>T (p.Ser354Phe) | |
| 1 | g.7663621C>A | CA416026461 | CAMTA1 | c.1074C>A (p.Ser358=) c.*925C>A (n.*925C>A) c.984C>A (p.Ser328=) c.1002C>A (p.Ser334=) c.*843C>A (n.*843C>A) c.1062C>A (p.Ser354=) | |
| 1 | g.7663621C>G | CA416026462 | CAMTA1 | c.1074C>G (p.Ser358=) c.*925C>G (n.*925C>G) c.984C>G (p.Ser328=) c.1002C>G (p.Ser334=) c.*843C>G (n.*843C>G) c.1062C>G (p.Ser354=) | |
| 1 | g.7663621C>T | CA416026464 | CAMTA1 | c.1074C>T (p.Ser358=) c.*925C>T (n.*925C>T) c.984C>T (p.Ser328=) c.1002C>T (p.Ser334=) c.*843C>T (n.*843C>T) c.1062C>T (p.Ser354=) | |
| 1 | g.7663622C>A | CA338124441 | CAMTA1 | c.1075C>A (p.Pro359Thr) c.*926C>A (n.*926C>A) c.985C>A (p.Pro329Thr) c.1003C>A (p.Pro335Thr) c.*844C>A (n.*844C>A) c.1063C>A (p.Pro355Thr) | |
| 1 | g.7663622C>G | CA338124443 | CAMTA1 | c.1075C>G (p.Pro359Ala) c.*926C>G (n.*926C>G) c.985C>G (p.Pro329Ala) c.1003C>G (p.Pro335Ala) c.*844C>G (n.*844C>G) c.1063C>G (p.Pro355Ala) | gnomAD v4 |
| 1 | g.7663622C>T | CA338124446 | CAMTA1 | c.1075C>T (p.Pro359Ser) c.*926C>T (n.*926C>T) c.985C>T (p.Pro329Ser) c.1003C>T (p.Pro335Ser) c.*844C>T (n.*844C>T) c.1063C>T (p.Pro355Ser) | COSMIC |
| 1 | g.7663623C>A | CA338124452 | CAMTA1 | c.1076C>A (p.Pro359His) c.*927C>A (n.*927C>A) c.986C>A (p.Pro329His) c.1004C>A (p.Pro335His) c.*845C>A (n.*845C>A) c.1064C>A (p.Pro355His) | |
| 1 | g.7663623C>G | CA338124455 | CAMTA1 | c.1076C>G (p.Pro359Arg) c.*927C>G (n.*927C>G) c.986C>G (p.Pro329Arg) c.1004C>G (p.Pro335Arg) c.*845C>G (n.*845C>G) c.1064C>G (p.Pro355Arg) | |
| 1 | g.7663623C>T | CA338124471 | CAMTA1 | c.1076C>T (p.Pro359Leu) c.*927C>T (n.*927C>T) c.986C>T (p.Pro329Leu) c.1004C>T (p.Pro335Leu) c.*845C>T (n.*845C>T) c.1064C>T (p.Pro355Leu) | |
| 1 | g.7663624T>A | CA416026465 | CAMTA1 | c.1077T>A (p.Pro359=) c.*928T>A (n.*928T>A) c.987T>A (p.Pro329=) c.1005T>A (p.Pro335=) c.*846T>A (n.*846T>A) c.1065T>A (p.Pro355=) | |
| 1 | g.7663624T>C | CA416026466 | CAMTA1 | c.1077T>C (p.Pro359=) c.*928T>C (n.*928T>C) c.987T>C (p.Pro329=) c.1005T>C (p.Pro335=) c.*846T>C (n.*846T>C) c.1065T>C (p.Pro355=) | |
| 1 | g.7663624T>G | CA566361 | CAMTA1 | c.1077T>G (p.Pro359=) c.*928T>G (n.*928T>G) c.987T>G (p.Pro329=) c.1005T>G (p.Pro335=) c.*846T>G (n.*846T>G) c.1065T>G (p.Pro355=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.7663624T= | CA1141640161 | CAMTA1 | c.1077T= (p.Pro359=) c.*928T= (n.*928T=) c.987T= (p.Pro329=) c.1005T= (p.Pro335=) c.*846T= (n.*846T=) c.1065T= (p.Pro355=) | |
| 1 | g.7663625G>A | CA338124490 | CAMTA1 | c.1078G>A (p.Val360Met) c.*929G>A (n.*929G>A) c.988G>A (p.Val330Met) c.1006G>A (p.Val336Met) c.*847G>A (n.*847G>A) c.1066G>A (p.Val356Met) | gnomAD v4 |
| 1 | g.7663625G>C | CA338124493 | CAMTA1 | c.1078G>C (p.Val360Leu) c.*929G>C (n.*929G>C) c.988G>C (p.Val330Leu) c.1006G>C (p.Val336Leu) c.*847G>C (n.*847G>C) c.1066G>C (p.Val356Leu) | |
| 1 | g.7663625G>T | CA338124496 | CAMTA1 | c.1078G>T (p.Val360Leu) c.*929G>T (n.*929G>T) c.988G>T (p.Val330Leu) c.1006G>T (p.Val336Leu) c.*847G>T (n.*847G>T) c.1066G>T (p.Val356Leu) | |
| 1 | g.7663626T>A | CA338124516 | CAMTA1 | c.1079T>A (p.Val360Glu) c.*930T>A (n.*930T>A) c.989T>A (p.Val330Glu) c.1007T>A (p.Val336Glu) c.*848T>A (n.*848T>A) c.1067T>A (p.Val356Glu) | |
| 1 | g.7663626T>C | CA338124509 | CAMTA1 | c.1079T>C (p.Val360Ala) c.*930T>C (n.*930T>C) c.989T>C (p.Val330Ala) c.1007T>C (p.Val336Ala) c.*848T>C (n.*848T>C) c.1067T>C (p.Val356Ala) | |
| 1 | g.7663626T>G | CA566362 | CAMTA1 | c.1079T>G (p.Val360Gly) c.*930T>G (n.*930T>G) c.989T>G (p.Val330Gly) c.1007T>G (p.Val336Gly) c.*848T>G (n.*848T>G) c.1067T>G (p.Val356Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.7663626T= | CA1141940844 | CAMTA1 | c.1079T= (p.Val360=) c.*930T= (n.*930T=) c.989T= (p.Val330=) c.1007T= (p.Val336=) c.*848T= (n.*848T=) c.1067T= (p.Val356=) | |
| 1 | g.7663627G>A | CA17244086 | CAMTA1 | c.1080G>A (p.Val360=) c.*931G>A (n.*931G>A) c.990G>A (p.Val330=) c.1008G>A (p.Val336=) c.*849G>A (n.*849G>A) c.1068G>A (p.Val356=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.7663627G>C | CA416026469 | CAMTA1 | c.1080G>C (p.Val360=) c.*931G>C (n.*931G>C) c.990G>C (p.Val330=) c.1008G>C (p.Val336=) c.*849G>C (n.*849G>C) c.1068G>C (p.Val356=) | |
| 1 | g.7663627G= | CA1152023680 | CAMTA1 | c.1080G= (p.Val360=) c.*931G= (n.*931G=) c.990G= (p.Val330=) c.1008G= (p.Val336=) c.*849G= (n.*849G=) c.1068G= (p.Val356=) | |
| 1 | g.7663627G>T | CA416026471 | CAMTA1 | c.1080G>T (p.Val360=) c.*931G>T (n.*931G>T) c.990G>T (p.Val330=) c.1008G>T (p.Val336=) c.*849G>T (n.*849G>T) c.1068G>T (p.Val356=) | gnomAD v4 |
| 1 | g.7663628T>A | CA338124517 | CAMTA1 | c.1081T>A (p.Ser361Thr) c.*932T>A (n.*932T>A) c.991T>A (p.Ser331Thr) c.1009T>A (p.Ser337Thr) c.*850T>A (n.*850T>A) c.1069T>A (p.Ser357Thr) | |
| 1 | g.7663628T>C | CA338124518 | CAMTA1 | c.1081T>C (p.Ser361Pro) c.*932T>C (n.*932T>C) c.991T>C (p.Ser331Pro) c.1009T>C (p.Ser337Pro) c.*850T>C (n.*850T>C) c.1069T>C (p.Ser357Pro) | |
| 1 | g.7663628T>G | CA338124520 | CAMTA1 | c.1081T>G (p.Ser361Ala) c.*932T>G (n.*932T>G) c.991T>G (p.Ser331Ala) c.1009T>G (p.Ser337Ala) c.*850T>G (n.*850T>G) c.1069T>G (p.Ser357Ala) | |
| 1 | g.7663629C>A | CA338124523 | CAMTA1 | c.1082C>A (p.Ser361Tyr) c.*933C>A (n.*933C>A) c.992C>A (p.Ser331Tyr) c.1010C>A (p.Ser337Tyr) c.*851C>A (n.*851C>A) c.1070C>A (p.Ser357Tyr) | |
| 1 | g.7663629C>G | CA338124530 | CAMTA1 | c.1082C>G (p.Ser361Cys) c.*933C>G (n.*933C>G) c.992C>G (p.Ser331Cys) c.1010C>G (p.Ser337Cys) c.*851C>G (n.*851C>G) c.1070C>G (p.Ser357Cys) | |
| 1 | g.7663629C>T | CA338124534 | CAMTA1 | c.1082C>T (p.Ser361Phe) c.*933C>T (n.*933C>T) c.992C>T (p.Ser331Phe) c.1010C>T (p.Ser337Phe) c.*851C>T (n.*851C>T) c.1070C>T (p.Ser357Phe) | |
| 1 | g.7663630C>A | CA416026473 | CAMTA1 | c.1083C>A (p.Ser361=) c.*934C>A (n.*934C>A) c.993C>A (p.Ser331=) c.1011C>A (p.Ser337=) c.*852C>A (n.*852C>A) c.1071C>A (p.Ser357=) | |
| 1 | g.7663630C= | CA1152023681 | CAMTA1 | c.1083C= (p.Ser361=) c.*934C= (n.*934C=) c.993C= (p.Ser331=) c.1011C= (p.Ser337=) c.*852C= (n.*852C=) c.1071C= (p.Ser357=) | |
| 1 | g.7663630C>G | CA416026477 | CAMTA1 | c.1083C>G (p.Ser361=) c.*934C>G (n.*934C>G) c.993C>G (p.Ser331=) c.1011C>G (p.Ser337=) c.*852C>G (n.*852C>G) c.1071C>G (p.Ser357=) | |
| 1 | g.7663630C>T | CA416026475 | CAMTA1 | c.1083C>T (p.Ser361=) c.*934C>T (n.*934C>T) c.993C>T (p.Ser331=) c.1011C>T (p.Ser337=) c.*852C>T (n.*852C>T) c.1071C>T (p.Ser357=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.7663631A>C | CA338124538 | CAMTA1 | c.1084A>C (p.Ile362Leu) c.*935A>C (n.*935A>C) c.994A>C (p.Ile332Leu) c.1012A>C (p.Ile338Leu) c.*853A>C (n.*853A>C) c.1072A>C (p.Ile358Leu) | |
| 1 | g.7663631A>G | CA338124547 | CAMTA1 | c.1084A>G (p.Ile362Val) c.*935A>G (n.*935A>G) c.994A>G (p.Ile332Val) c.1012A>G (p.Ile338Val) c.*853A>G (n.*853A>G) c.1072A>G (p.Ile358Val) | |
| 1 | g.7663631A>T | CA338124548 | CAMTA1 | c.1084A>T (p.Ile362Phe) c.*935A>T (n.*935A>T) c.994A>T (p.Ile332Phe) c.1012A>T (p.Ile338Phe) c.*853A>T (n.*853A>T) c.1072A>T (p.Ile358Phe) | |
| 1 | g.7663632T>A | CA566363 | CAMTA1 | c.1085T>A (p.Ile362Asn) c.*936T>A (n.*936T>A) c.995T>A (p.Ile332Asn) c.1013T>A (p.Ile338Asn) c.*854T>A (n.*854T>A) c.1073T>A (p.Ile358Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.7663632T>C | CA338124553 | CAMTA1 | c.1085T>C (p.Ile362Thr) c.*936T>C (n.*936T>C) c.995T>C (p.Ile332Thr) c.1013T>C (p.Ile338Thr) c.*854T>C (n.*854T>C) c.1073T>C (p.Ile358Thr) | |
| 1 | g.7663632T>G | CA338124554 | CAMTA1 | c.1085T>G (p.Ile362Ser) c.*936T>G (n.*936T>G) c.995T>G (p.Ile332Ser) c.1013T>G (p.Ile338Ser) c.*854T>G (n.*854T>G) c.1073T>G (p.Ile358Ser) | |
| 1 | g.7663632T= | CA1152023682 | CAMTA1 | c.1085T= (p.Ile362=) c.*936T= (n.*936T=) c.995T= (p.Ile332=) c.1013T= (p.Ile338=) c.*854T= (n.*854T=) c.1073T= (p.Ile358=) | |
| 1 | g.7663633C>A | CA416026479 | CAMTA1 | c.1086C>A (p.Ile362=) c.*937C>A (n.*937C>A) c.996C>A (p.Ile332=) c.1014C>A (p.Ile338=) c.*855C>A (n.*855C>A) c.1074C>A (p.Ile358=) | |
| 1 | g.7663633C= | CA1141838616 | CAMTA1 | c.1086C= (p.Ile362=) c.*937C= (n.*937C=) c.996C= (p.Ile332=) c.1014C= (p.Ile338=) c.*855C= (n.*855C=) c.1074C= (p.Ile358=) | |
| 1 | g.7663633C>G | CA338124555 | CAMTA1 | c.1086C>G (p.Ile362Met) c.*937C>G (n.*937C>G) c.996C>G (p.Ile332Met) c.1014C>G (p.Ile338Met) c.*855C>G (n.*855C>G) c.1074C>G (p.Ile358Met) | |
| 1 | g.7663633C>T | CA566364 | CAMTA1 | c.1086C>T (p.Ile362=) c.*937C>T (n.*937C>T) c.996C>T (p.Ile332=) c.1014C>T (p.Ile338=) c.*855C>T (n.*855C>T) c.1074C>T (p.Ile358=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.7663634A>C | CA338124560 | CAMTA1 | c.1087A>C (p.Ser363Arg) c.*938A>C (n.*938A>C) c.997A>C (p.Ser333Arg) c.1015A>C (p.Ser339Arg) c.*856A>C (n.*856A>C) c.1075A>C (p.Ser359Arg) | |
| 1 | g.7663634A>G | CA338124568 | CAMTA1 | c.1087A>G (p.Ser363Gly) c.*938A>G (n.*938A>G) c.997A>G (p.Ser333Gly) c.1015A>G (p.Ser339Gly) c.*856A>G (n.*856A>G) c.1075A>G (p.Ser359Gly) | gnomAD v4 |
| 1 | g.7663634A>T | CA338124566 | CAMTA1 | c.1087A>T (p.Ser363Cys) c.*938A>T (n.*938A>T) c.997A>T (p.Ser333Cys) c.1015A>T (p.Ser339Cys) c.*856A>T (n.*856A>T) c.1075A>T (p.Ser359Cys) | |
| 1 | g.7663635G>A | CA338124572 | CAMTA1 | c.1088G>A (p.Ser363Asn) c.*939G>A (n.*939G>A) c.998G>A (p.Ser333Asn) c.1016G>A (p.Ser339Asn) c.*857G>A (n.*857G>A) c.1076G>A (p.Ser359Asn) | |
| 1 | g.7663635G>C | CA338124592 | CAMTA1 | c.1088G>C (p.Ser363Thr) c.*939G>C (n.*939G>C) c.998G>C (p.Ser333Thr) c.1016G>C (p.Ser339Thr) c.*857G>C (n.*857G>C) c.1076G>C (p.Ser359Thr) | |
| 1 | g.7663635G>T | CA338124595 | CAMTA1 | c.1088G>T (p.Ser363Ile) c.*939G>T (n.*939G>T) c.998G>T (p.Ser333Ile) c.1016G>T (p.Ser339Ile) c.*857G>T (n.*857G>T) c.1076G>T (p.Ser359Ile) | |
| 1 | g.7663636C>A | CA338124599 | CAMTA1 | c.1089C>A (p.Ser363Arg) c.*940C>A (n.*940C>A) c.999C>A (p.Ser333Arg) c.1017C>A (p.Ser339Arg) c.*858C>A (n.*858C>A) c.1077C>A (p.Ser359Arg) | |
| 1 | g.7663636C>G | CA338124602 | CAMTA1 | c.1089C>G (p.Ser363Arg) c.*940C>G (n.*940C>G) c.999C>G (p.Ser333Arg) c.1017C>G (p.Ser339Arg) c.*858C>G (n.*858C>G) c.1077C>G (p.Ser359Arg) | |
| 1 | g.7663636C>T | CA416026481 | CAMTA1 | c.1089C>T (p.Ser363=) c.*940C>T (n.*940C>T) c.999C>T (p.Ser333=) c.1017C>T (p.Ser339=) c.*858C>T (n.*858C>T) c.1077C>T (p.Ser359=) | |
| 1 | g.7663637A>C | CA338124604 | CAMTA1 | c.1090A>C (p.Ser364Arg) c.*941A>C (n.*941A>C) c.1000A>C (p.Ser334Arg) c.1018A>C (p.Ser340Arg) c.*859A>C (n.*859A>C) c.1078A>C (p.Ser360Arg) | |
| 1 | g.7663637A>G | CA338124620 | CAMTA1 | c.1090A>G (p.Ser364Gly) c.*941A>G (n.*941A>G) c.1000A>G (p.Ser334Gly) c.1018A>G (p.Ser340Gly) c.*859A>G (n.*859A>G) c.1078A>G (p.Ser360Gly) | |
| 1 | g.7663637A>T | CA338124626 | CAMTA1 | c.1090A>T (p.Ser364Cys) c.*941A>T (n.*941A>T) c.1000A>T (p.Ser334Cys) c.1018A>T (p.Ser340Cys) c.*859A>T (n.*859A>T) c.1078A>T (p.Ser360Cys) | dbSNP |
| 1 | g.7663638G>A | CA338124630 | CAMTA1 | c.1091G>A (p.Ser364Asn) c.*942G>A (n.*942G>A) c.1001G>A (p.Ser334Asn) c.1019G>A (p.Ser340Asn) c.*860G>A (n.*860G>A) c.1079G>A (p.Ser360Asn) | |
| 1 | g.7663638G>C | CA338124634 | CAMTA1 | c.1091G>C (p.Ser364Thr) c.*942G>C (n.*942G>C) c.1001G>C (p.Ser334Thr) c.1019G>C (p.Ser340Thr) c.*860G>C (n.*860G>C) c.1079G>C (p.Ser360Thr) | |
| 1 | g.7663638G>T | CA338124645 | CAMTA1 | c.1091G>T (p.Ser364Ile) c.*942G>T (n.*942G>T) c.1001G>T (p.Ser334Ile) c.1019G>T (p.Ser340Ile) c.*860G>T (n.*860G>T) c.1079G>T (p.Ser360Ile) | |
| 1 | g.7663639C>A | CA338124658 | CAMTA1 | c.1092C>A (p.Ser364Arg) c.*943C>A (n.*943C>A) c.1002C>A (p.Ser334Arg) c.1020C>A (p.Ser340Arg) c.*861C>A (n.*861C>A) c.1080C>A (p.Ser360Arg) | |
| 1 | g.7663639C= | CA1143756055 | CAMTA1 | c.1092C= (p.Ser364=) c.*943C= (n.*943C=) c.1002C= (p.Ser334=) c.1020C= (p.Ser340=) c.*861C= (n.*861C=) c.1080C= (p.Ser360=) | |
| 1 | g.7663639C>G | CA338124653 | CAMTA1 | c.1092C>G (p.Ser364Arg) c.*943C>G (n.*943C>G) c.1002C>G (p.Ser334Arg) c.1020C>G (p.Ser340Arg) c.*861C>G (n.*861C>G) c.1080C>G (p.Ser360Arg) | |
| 1 | g.7663639C>T | CA566365 | CAMTA1 | c.1092C>T (p.Ser364=) c.*943C>T (n.*943C>T) c.1002C>T (p.Ser334=) c.1020C>T (p.Ser340=) c.*861C>T (n.*861C>T) c.1080C>T (p.Ser360=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.7663640G>A | CA566366 | CAMTA1 | c.1093G>A (p.Gly365Arg) c.*944G>A (n.*944G>A) c.1003G>A (p.Gly335Arg) c.1021G>A (p.Gly341Arg) c.*862G>A (n.*862G>A) c.1081G>A (p.Gly361Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.7663640G>C | CA338124664 | CAMTA1 | c.1093G>C (p.Gly365Arg) c.*944G>C (n.*944G>C) c.1003G>C (p.Gly335Arg) c.1021G>C (p.Gly341Arg) c.*862G>C (n.*862G>C) c.1081G>C (p.Gly361Arg) | |
| 1 | g.7663640G= | CA1143537704 | CAMTA1 | c.1093G= (p.Gly365=) c.*944G= (n.*944G=) c.1003G= (p.Gly335=) c.1021G= (p.Gly341=) c.*862G= (n.*862G=) c.1081G= (p.Gly361=) | |
| 1 | g.7663640G>T | CA338124665 | CAMTA1 | c.1093G>T (p.Gly365Trp) c.*944G>T (n.*944G>T) c.1003G>T (p.Gly335Trp) c.1021G>T (p.Gly341Trp) c.*862G>T (n.*862G>T) c.1081G>T (p.Gly361Trp) | |
| 1 | g.7663641G>A | CA338124668 | CAMTA1 | c.1094G>A (p.Gly365Glu) c.*945G>A (n.*945G>A) c.1004G>A (p.Gly335Glu) c.1022G>A (p.Gly341Glu) c.*863G>A (n.*863G>A) c.1082G>A (p.Gly361Glu) | |
| 1 | g.7663641G>C | CA338124669 | CAMTA1 | c.1094G>C (p.Gly365Ala) c.*945G>C (n.*945G>C) c.1004G>C (p.Gly335Ala) c.1022G>C (p.Gly341Ala) c.*863G>C (n.*863G>C) c.1082G>C (p.Gly361Ala) | gnomAD v4 |
| 1 | g.7663641G>T | CA338124685 | CAMTA1 | c.1094G>T (p.Gly365Val) c.*945G>T (n.*945G>T) c.1004G>T (p.Gly335Val) c.1022G>T (p.Gly341Val) c.*863G>T (n.*863G>T) c.1082G>T (p.Gly361Val) | |
| 1 | g.7663642G>A | CA416026482 | CAMTA1 | c.1095G>A (p.Gly365=) c.*946G>A (n.*946G>A) c.1005G>A (p.Gly335=) c.1023G>A (p.Gly341=) c.*864G>A (n.*864G>A) c.1083G>A (p.Gly361=) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.7663642G>C | CA416026483 | CAMTA1 | c.1095G>C (p.Gly365=) c.*946G>C (n.*946G>C) c.1005G>C (p.Gly335=) c.1023G>C (p.Gly341=) c.*864G>C (n.*864G>C) c.1083G>C (p.Gly361=) | |
| 1 | g.7663642G= | CA1152023683 | CAMTA1 | c.1095G= (p.Gly365=) c.*946G= (n.*946G=) c.1005G= (p.Gly335=) c.1023G= (p.Gly341=) c.*864G= (n.*864G=) c.1083G= (p.Gly361=) | |
| 1 | g.7663642G>T | CA416026484 | CAMTA1 | c.1095G>T (p.Gly365=) c.*946G>T (n.*946G>T) c.1005G>T (p.Gly335=) c.1023G>T (p.Gly341=) c.*864G>T (n.*864G>T) c.1083G>T (p.Gly361=) | gnomAD v4 |
| 1 | g.7663643C>A | CA338124687 | CAMTA1 | c.1096C>A (p.Leu366Ile) c.*947C>A (n.*947C>A) c.1006C>A (p.Leu336Ile) c.1024C>A (p.Leu342Ile) c.*865C>A (n.*865C>A) c.1084C>A (p.Leu362Ile) | |
| 1 | g.7663643C>G | CA338124692 | CAMTA1 | c.1096C>G (p.Leu366Val) c.*947C>G (n.*947C>G) c.1006C>G (p.Leu336Val) c.1024C>G (p.Leu342Val) c.*865C>G (n.*865C>G) c.1084C>G (p.Leu362Val) | |
| 1 | g.7663643C>T | CA338124697 | CAMTA1 | c.1096C>T (p.Leu366Phe) c.*947C>T (n.*947C>T) c.1006C>T (p.Leu336Phe) c.1024C>T (p.Leu342Phe) c.*865C>T (n.*865C>T) c.1084C>T (p.Leu362Phe) | |
| 1 | g.7663644T>A | CA338124700 | CAMTA1 | c.1097T>A (p.Leu366His) c.*948T>A (n.*948T>A) c.1007T>A (p.Leu336His) c.1025T>A (p.Leu342His) c.*866T>A (n.*866T>A) c.1085T>A (p.Leu362His) | |
| 1 | g.7663644T>C | CA338124709 | CAMTA1 | c.1097T>C (p.Leu366Pro) c.*948T>C (n.*948T>C) c.1007T>C (p.Leu336Pro) c.1025T>C (p.Leu342Pro) c.*866T>C (n.*866T>C) c.1085T>C (p.Leu362Pro) | |
| 1 | g.7663644T>G | CA338124712 | CAMTA1 | c.1097T>G (p.Leu366Arg) c.*948T>G (n.*948T>G) c.1007T>G (p.Leu336Arg) c.1025T>G (p.Leu342Arg) c.*866T>G (n.*866T>G) c.1085T>G (p.Leu362Arg) | |
| 1 | g.7663645C>A | CA416026485 | CAMTA1 | c.1098C>A (p.Leu366=) c.*949C>A (n.*949C>A) c.1008C>A (p.Leu336=) c.1026C>A (p.Leu342=) c.*867C>A (n.*867C>A) c.1086C>A (p.Leu362=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.7663645C= | CA1152023684 | CAMTA1 | c.1098C= (p.Leu366=) c.*949C= (n.*949C=) c.1008C= (p.Leu336=) c.1026C= (p.Leu342=) c.*867C= (n.*867C=) c.1086C= (p.Leu362=) | |
| 1 | g.7663645C>G | CA416026486 | CAMTA1 | c.1098C>G (p.Leu366=) c.*949C>G (n.*949C>G) c.1008C>G (p.Leu336=) c.1026C>G (p.Leu342=) c.*867C>G (n.*867C>G) c.1086C>G (p.Leu362=) | gnomAD v4 |
| 1 | g.7663645C>T | CA416026487 | CAMTA1 | c.1098C>T (p.Leu366=) c.*949C>T (n.*949C>T) c.1008C>T (p.Leu336=) c.1026C>T (p.Leu342=) c.*867C>T (n.*867C>T) c.1086C>T (p.Leu362=) | ClinVar |
| 1 | g.7663646A>C | CA338124716 | CAMTA1 | c.1099A>C (p.Asn367His) c.*950A>C (n.*950A>C) c.1009A>C (p.Asn337His) c.1027A>C (p.Asn343His) c.*868A>C (n.*868A>C) c.1087A>C (p.Asn363His) | |
| 1 | g.7663646A>G | CA338124723 | CAMTA1 | c.1099A>G (p.Asn367Asp) c.*950A>G (n.*950A>G) c.1009A>G (p.Asn337Asp) c.1027A>G (p.Asn343Asp) c.*868A>G (n.*868A>G) c.1087A>G (p.Asn363Asp) | |
| 1 | g.7663646A>T | CA338124719 | CAMTA1 | c.1099A>T (p.Asn367Tyr) c.*950A>T (n.*950A>T) c.1009A>T (p.Asn337Tyr) c.1027A>T (p.Asn343Tyr) c.*868A>T (n.*868A>T) c.1087A>T (p.Asn363Tyr) | |
| 1 | g.7663647A= | CA1152023685 | CAMTA1 | c.1100A= (p.Asn367=) c.*951A= (n.*951A=) c.1010A= (p.Asn337=) c.1028A= (p.Asn343=) c.*869A= (n.*869A=) c.1088A= (p.Asn363=) | |
| 1 | g.7663647A>C | CA338124729 | CAMTA1 | c.1100A>C (p.Asn367Thr) c.*951A>C (n.*951A>C) c.1010A>C (p.Asn337Thr) c.1028A>C (p.Asn343Thr) c.*869A>C (n.*869A>C) c.1088A>C (p.Asn363Thr) | |
| 1 | g.7663647A>G | CA338124733 | CAMTA1 | c.1100A>G (p.Asn367Ser) c.*951A>G (n.*951A>G) c.1010A>G (p.Asn337Ser) c.1028A>G (p.Asn343Ser) c.*869A>G (n.*869A>G) c.1088A>G (p.Asn363Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.7663647A>T | CA338124731 | CAMTA1 | c.1100A>T (p.Asn367Ile) c.*951A>T (n.*951A>T) c.1010A>T (p.Asn337Ile) c.1028A>T (p.Asn343Ile) c.*869A>T (n.*869A>T) c.1088A>T (p.Asn363Ile) | |
| 1 | g.7663648C>A | CA338124737 | CAMTA1 | c.1101C>A (p.Asn367Lys) c.*952C>A (n.*952C>A) c.1011C>A (p.Asn337Lys) c.1029C>A (p.Asn343Lys) c.*870C>A (n.*870C>A) c.1089C>A (p.Asn363Lys) | |
| 1 | g.7663648C= | CA1152023686 | CAMTA1 | c.1101C= (p.Asn367=) c.*952C= (n.*952C=) c.1011C= (p.Asn337=) c.1029C= (p.Asn343=) c.*870C= (n.*870C=) c.1089C= (p.Asn363=) | |
| 1 | g.7663648C>G | CA338124760 | CAMTA1 | c.1101C>G (p.Asn367Lys) c.*952C>G (n.*952C>G) c.1011C>G (p.Asn337Lys) c.1029C>G (p.Asn343Lys) c.*870C>G (n.*870C>G) c.1089C>G (p.Asn363Lys) | gnomAD v4 COSMIC |
| 1 | g.7663648C>T | CA566367 | CAMTA1 | c.1101C>T (p.Asn367=) c.*952C>T (n.*952C>T) c.1011C>T (p.Asn337=) c.1029C>T (p.Asn343=) c.*870C>T (n.*870C>T) c.1089C>T (p.Asn363=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.7663649A>C | CA338124766 | CAMTA1 | c.1102A>C (p.Ser368Arg) c.*953A>C (n.*953A>C) c.1012A>C (p.Ser338Arg) c.1030A>C (p.Ser344Arg) c.*871A>C (n.*871A>C) c.1090A>C (p.Ser364Arg) | |
| 1 | g.7663649A>G | CA338124769 | CAMTA1 | c.1102A>G (p.Ser368Gly) c.*953A>G (n.*953A>G) c.1012A>G (p.Ser338Gly) c.1030A>G (p.Ser344Gly) c.*871A>G (n.*871A>G) c.1090A>G (p.Ser364Gly) | gnomAD v4 |
| 1 | g.7663649A>T | CA338124776 | CAMTA1 | c.1102A>T (p.Ser368Cys) c.*953A>T (n.*953A>T) c.1012A>T (p.Ser338Cys) c.1030A>T (p.Ser344Cys) c.*871A>T (n.*871A>T) c.1090A>T (p.Ser364Cys) | |
| 1 | g.7663650G>A | CA338124780 | CAMTA1 | c.1103G>A (p.Ser368Asn) c.*954G>A (n.*954G>A) c.1013G>A (p.Ser338Asn) c.1031G>A (p.Ser344Asn) c.*872G>A (n.*872G>A) c.1091G>A (p.Ser364Asn) | |
| 1 | g.7663650G>C | CA338124782 | CAMTA1 | c.1103G>C (p.Ser368Thr) c.*954G>C (n.*954G>C) c.1013G>C (p.Ser338Thr) c.1031G>C (p.Ser344Thr) c.*872G>C (n.*872G>C) c.1091G>C (p.Ser364Thr) | |
| 1 | g.7663650G>T | CA338124784 | CAMTA1 | c.1103G>T (p.Ser368Ile) c.*954G>T (n.*954G>T) c.1013G>T (p.Ser338Ile) c.1031G>T (p.Ser344Ile) c.*872G>T (n.*872G>T) c.1091G>T (p.Ser364Ile) | |
| 1 | g.7663651C>A | CA338124787 | CAMTA1 | c.1104C>A (p.Ser368Arg) c.*955C>A (n.*955C>A) c.1014C>A (p.Ser338Arg) c.1032C>A (p.Ser344Arg) c.*873C>A (n.*873C>A) c.1092C>A (p.Ser364Arg) | |
| 1 | g.7663651C= | CA1152023687 | CAMTA1 | c.1104C= (p.Ser368=) c.*955C= (n.*955C=) c.1014C= (p.Ser338=) c.1032C= (p.Ser344=) c.*873C= (n.*873C=) c.1092C= (p.Ser364=) | |
| 1 | g.7663651C>G | CA338124791 | CAMTA1 | c.1104C>G (p.Ser368Arg) c.*955C>G (n.*955C>G) c.1014C>G (p.Ser338Arg) c.1032C>G (p.Ser344Arg) c.*873C>G (n.*873C>G) c.1092C>G (p.Ser364Arg) | |
| 1 | g.7663651C>T | CA566368 | CAMTA1 | c.1104C>T (p.Ser368=) c.*955C>T (n.*955C>T) c.1014C>T (p.Ser338=) c.1032C>T (p.Ser344=) c.*873C>T (n.*873C>T) c.1092C>T (p.Ser364=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.7663652G>A | CA338124812 | CAMTA1 | c.1105G>A (p.Asp369Asn) c.*956G>A (n.*956G>A) c.1015G>A (p.Asp339Asn) c.1033G>A (p.Asp345Asn) c.*874G>A (n.*874G>A) c.1093G>A (p.Asp365Asn) | ClinVar gnomAD v4 |
| 1 | g.7663652G>C | CA338124820 | CAMTA1 | c.1105G>C (p.Asp369His) c.*956G>C (n.*956G>C) c.1015G>C (p.Asp339His) c.1033G>C (p.Asp345His) c.*874G>C (n.*874G>C) c.1093G>C (p.Asp365His) | |
| 1 | g.7663652G>T | CA338124824 | CAMTA1 | c.1105G>T (p.Asp369Tyr) c.*956G>T (n.*956G>T) c.1015G>T (p.Asp339Tyr) c.1033G>T (p.Asp345Tyr) c.*874G>T (n.*874G>T) c.1093G>T (p.Asp365Tyr) | |
| 1 | g.7663653A>C | CA338124831 | CAMTA1 | c.1106A>C (p.Asp369Ala) c.*957A>C (n.*957A>C) c.1016A>C (p.Asp339Ala) c.1034A>C (p.Asp345Ala) c.*875A>C (n.*875A>C) c.1094A>C (p.Asp365Ala) | |
| 1 | g.7663653A>G | CA338124838 | CAMTA1 | c.1106A>G (p.Asp369Gly) c.*957A>G (n.*957A>G) c.1016A>G (p.Asp339Gly) c.1034A>G (p.Asp345Gly) c.*875A>G (n.*875A>G) c.1094A>G (p.Asp365Gly) | |
| 1 | g.7663653A>T | CA338124835 | CAMTA1 | c.1106A>T (p.Asp369Val) c.*957A>T (n.*957A>T) c.1016A>T (p.Asp339Val) c.1034A>T (p.Asp345Val) c.*875A>T (n.*875A>T) c.1094A>T (p.Asp365Val) | |
| 1 | g.7663654C>A | CA338124849 | CAMTA1 | c.1107C>A (p.Asp369Glu) c.*958C>A (n.*958C>A) c.1017C>A (p.Asp339Glu) c.1035C>A (p.Asp345Glu) c.*876C>A (n.*876C>A) c.1095C>A (p.Asp365Glu) | |
| 1 | g.7663654C>G | CA338124851 | CAMTA1 | c.1107C>G (p.Asp369Glu) c.*958C>G (n.*958C>G) c.1017C>G (p.Asp339Glu) c.1035C>G (p.Asp345Glu) c.*876C>G (n.*876C>G) c.1095C>G (p.Asp365Glu) | |
| 1 | g.7663654C>T | CA416026488 | CAMTA1 | c.1107C>T (p.Asp369=) c.*958C>T (n.*958C>T) c.1017C>T (p.Asp339=) c.1035C>T (p.Asp345=) c.*876C>T (n.*876C>T) c.1095C>T (p.Asp365=) | |
| 1 | g.7663655C>A | CA338124852 | CAMTA1 | c.1108C>A (p.Pro370Thr) c.*959C>A (n.*959C>A) c.1018C>A (p.Pro340Thr) c.1036C>A (p.Pro346Thr) c.*877C>A (n.*877C>A) c.1096C>A (p.Pro366Thr) | dbSNP gnomAD v2 |
| 1 | g.7663655C= | CA1152023688 | CAMTA1 | c.1108C= (p.Pro370=) c.*959C= (n.*959C=) c.1018C= (p.Pro340=) c.1036C= (p.Pro346=) c.*877C= (n.*877C=) c.1096C= (p.Pro366=) | |
| 1 | g.7663655C>G | CA338124853 | CAMTA1 | c.1108C>G (p.Pro370Ala) c.*959C>G (n.*959C>G) c.1018C>G (p.Pro340Ala) c.1036C>G (p.Pro346Ala) c.*877C>G (n.*877C>G) c.1096C>G (p.Pro366Ala) | |
| 1 | g.7663655C>T | CA338124858 | CAMTA1 | c.1108C>T (p.Pro370Ser) c.*959C>T (n.*959C>T) c.1018C>T (p.Pro340Ser) c.1036C>T (p.Pro346Ser) c.*877C>T (n.*877C>T) c.1096C>T (p.Pro366Ser) | dbSNP |
| 1 | g.7663656C>A | CA17244098 | CAMTA1 | c.1109C>A (p.Pro370Gln) c.*960C>A (n.*960C>A) c.1019C>A (p.Pro340Gln) c.1037C>A (p.Pro346Gln) c.*878C>A (n.*878C>A) c.1097C>A (p.Pro366Gln) | dbSNP |
| 1 | g.7663656C= | CA1141651058 | CAMTA1 | c.1109C= (p.Pro370=) c.*960C= (n.*960C=) c.1019C= (p.Pro340=) c.1037C= (p.Pro346=) c.*878C= (n.*878C=) c.1097C= (p.Pro366=) | |
| 1 | g.7663656C>G | CA338124875 | CAMTA1 | c.1109C>G (p.Pro370Arg) c.*960C>G (n.*960C>G) c.1019C>G (p.Pro340Arg) c.1037C>G (p.Pro346Arg) c.*878C>G (n.*878C>G) c.1097C>G (p.Pro366Arg) | |
| 1 | g.7663656C>T | CA566369 | CAMTA1 | c.1109C>T (p.Pro370Leu) c.*960C>T (n.*960C>T) c.1019C>T (p.Pro340Leu) c.1037C>T (p.Pro346Leu) c.*878C>T (n.*878C>T) c.1097C>T (p.Pro366Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.7663657G>A | CA566370 | CAMTA1 | c.1110G>A (p.Pro370=) c.*961G>A (n.*961G>A) c.1020G>A (p.Pro340=) c.1038G>A (p.Pro346=) c.*879G>A (n.*879G>A) c.1098G>A (p.Pro366=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.7663657G>C | CA416026489 | CAMTA1 | c.1110G>C (p.Pro370=) c.*961G>C (n.*961G>C) c.1020G>C (p.Pro340=) c.1038G>C (p.Pro346=) c.*879G>C (n.*879G>C) c.1098G>C (p.Pro366=) | |
| 1 | g.7663657G= | CA1144075220 | CAMTA1 | c.1110G= (p.Pro370=) c.*961G= (n.*961G=) c.1020G= (p.Pro340=) c.1038G= (p.Pro346=) c.*879G= (n.*879G=) c.1098G= (p.Pro366=) | |
| 1 | g.7663657G>T | CA416026490 | CAMTA1 | c.1110G>T (p.Pro370=) c.*961G>T (n.*961G>T) c.1020G>T (p.Pro340=) c.1038G>T (p.Pro346=) c.*879G>T (n.*879G>T) c.1098G>T (p.Pro366=) | dbSNP gnomAD v2 |
| 1 | g.7663658G>A | CA338124940 | CAMTA1 | c.1111G>A (p.Asp371Asn) c.*962G>A (n.*962G>A) c.1021G>A (p.Asp341Asn) c.1039G>A (p.Asp347Asn) c.*880G>A (n.*880G>A) c.1099G>A (p.Asp367Asn) | |
| 1 | g.7663658G>C | CA338124911 | CAMTA1 | c.1111G>C (p.Asp371His) c.*962G>C (n.*962G>C) c.1021G>C (p.Asp341His) c.1039G>C (p.Asp347His) c.*880G>C (n.*880G>C) c.1099G>C (p.Asp367His) | |
| 1 | g.7663658G>T | CA338124906 | CAMTA1 | c.1111G>T (p.Asp371Tyr) c.*962G>T (n.*962G>T) c.1021G>T (p.Asp341Tyr) c.1039G>T (p.Asp347Tyr) c.*880G>T (n.*880G>T) c.1099G>T (p.Asp367Tyr) | |
| 1 | g.7663659A>C | CA338124945 | CAMTA1 | c.1112A>C (p.Asp371Ala) c.*963A>C (n.*963A>C) c.1022A>C (p.Asp341Ala) c.1040A>C (p.Asp347Ala) c.*881A>C (n.*881A>C) c.1100A>C (p.Asp367Ala) | |
| 1 | g.7663659A>G | CA338124955 | CAMTA1 | c.1112A>G (p.Asp371Gly) c.*963A>G (n.*963A>G) c.1022A>G (p.Asp341Gly) c.1040A>G (p.Asp347Gly) c.*881A>G (n.*881A>G) c.1100A>G (p.Asp367Gly) | |
| 1 | g.7663659A>T | CA338124960 | CAMTA1 | c.1112A>T (p.Asp371Val) c.*963A>T (n.*963A>T) c.1022A>T (p.Asp341Val) c.1040A>T (p.Asp347Val) c.*881A>T (n.*881A>T) c.1100A>T (p.Asp367Val) | |
| 1 | g.7663660C>A | CA338124981 | CAMTA1 | c.1113C>A (p.Asp371Glu) c.*964C>A (n.*964C>A) c.1023C>A (p.Asp341Glu) c.1041C>A (p.Asp347Glu) c.*882C>A (n.*882C>A) c.1101C>A (p.Asp367Glu) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 1 | g.7663660C= | CA1144208524 | CAMTA1 | c.1113C= (p.Asp371=) c.*964C= (n.*964C=) c.1023C= (p.Asp341=) c.1041C= (p.Asp347=) c.*882C= (n.*882C=) c.1101C= (p.Asp367=) | |
| 1 | g.7663660C>G | CA338124992 | CAMTA1 | c.1113C>G (p.Asp371Glu) c.*964C>G (n.*964C>G) c.1023C>G (p.Asp341Glu) c.1041C>G (p.Asp347Glu) c.*882C>G (n.*882C>G) c.1101C>G (p.Asp367Glu) | |
| 1 | g.7663660C>T | CA566371 | CAMTA1 | c.1113C>T (p.Asp371=) c.*964C>T (n.*964C>T) c.1023C>T (p.Asp341=) c.1041C>T (p.Asp347=) c.*882C>T (n.*882C>T) c.1101C>T (p.Asp367=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.7663661A>C | CA338125008 | CAMTA1 | c.1114A>C (p.Met372Leu) c.*965A>C (n.*965A>C) c.1024A>C (p.Met342Leu) c.1042A>C (p.Met348Leu) c.*883A>C (n.*883A>C) c.1102A>C (p.Met368Leu) | |
| 1 | g.7663661A>G | CA338125020 | CAMTA1 | c.1114A>G (p.Met372Val) c.*965A>G (n.*965A>G) c.1024A>G (p.Met342Val) c.1042A>G (p.Met348Val) c.*883A>G (n.*883A>G) c.1102A>G (p.Met368Val) | gnomAD v4 |
| 1 | g.7663661A>T | CA338125021 | CAMTA1 | c.1114A>T (p.Met372Leu) c.*965A>T (n.*965A>T) c.1024A>T (p.Met342Leu) c.1042A>T (p.Met348Leu) c.*883A>T (n.*883A>T) c.1102A>T (p.Met368Leu) | |
| 1 | g.7663662T>A | CA338125025 | CAMTA1 | c.1115T>A (p.Met372Lys) c.*966T>A (n.*966T>A) c.1025T>A (p.Met342Lys) c.1043T>A (p.Met348Lys) c.*884T>A (n.*884T>A) c.1103T>A (p.Met368Lys) | |
| 1 | g.7663662T>C | CA338125027 | CAMTA1 | c.1115T>C (p.Met372Thr) c.*966T>C (n.*966T>C) c.1025T>C (p.Met342Thr) c.1043T>C (p.Met348Thr) c.*884T>C (n.*884T>C) c.1103T>C (p.Met368Thr) | gnomAD v4 |
| 1 | g.7663662T>G | CA338125030 | CAMTA1 | c.1115T>G (p.Met372Arg) c.*966T>G (n.*966T>G) c.1025T>G (p.Met342Arg) c.1043T>G (p.Met348Arg) c.*884T>G (n.*884T>G) c.1103T>G (p.Met368Arg) | |
| 1 | g.7663665_7663667del | CA2592296919 | CAMTA1 | c.1118_1120del (p.Val373del) c.*969_*971del (n.*969_*971del) c.1028_1030del (p.Val343del) c.1046_1048del (p.Val349del) c.*887_*889del (n.*887_*889del) c.1106_1108del (p.Val369del) | gnomAD v3 gnomAD v4 |
| 1 | g.7663663G>A | CA338125039 | CAMTA1 | c.1116G>A (p.Met372Ile) c.*967G>A (n.*967G>A) c.1026G>A (p.Met342Ile) c.1044G>A (p.Met348Ile) c.*885G>A (n.*885G>A) c.1104G>A (p.Met368Ile) | |
| 1 | g.7663663G>C | CA338125037 | CAMTA1 | c.1116G>C (p.Met372Ile) c.*967G>C (n.*967G>C) c.1026G>C (p.Met342Ile) c.1044G>C (p.Met348Ile) c.*885G>C (n.*885G>C) c.1104G>C (p.Met368Ile) | |
| 1 | g.7663663G>T | CA338125038 | CAMTA1 | c.1116G>T (p.Met372Ile) c.*967G>T (n.*967G>T) c.1026G>T (p.Met342Ile) c.1044G>T (p.Met348Ile) c.*885G>T (n.*885G>T) c.1104G>T (p.Met368Ile) | |
| 1 | g.7663664G>A | CA338125045 | CAMTA1 | c.1117G>A (p.Val373Met) c.*968G>A (n.*968G>A) c.1027G>A (p.Val343Met) c.1045G>A (p.Val349Met) c.*886G>A (n.*886G>A) c.1105G>A (p.Val369Met) | gnomAD v4 |
| 1 | g.7663664G>C | CA338125054 | CAMTA1 | c.1117G>C (p.Val373Leu) c.*968G>C (n.*968G>C) c.1027G>C (p.Val343Leu) c.1045G>C (p.Val349Leu) c.*886G>C (n.*886G>C) c.1105G>C (p.Val369Leu) | |
| 1 | g.7663664G>T | CA338125056 | CAMTA1 | c.1117G>T (p.Val373Leu) c.*968G>T (n.*968G>T) c.1027G>T (p.Val343Leu) c.1045G>T (p.Val349Leu) c.*886G>T (n.*886G>T) c.1105G>T (p.Val369Leu) | |
| 1 | g.7663665T>A | CA338125061 | CAMTA1 | c.1118T>A (p.Val373Glu) c.*969T>A (n.*969T>A) c.1028T>A (p.Val343Glu) c.1046T>A (p.Val349Glu) c.*887T>A (n.*887T>A) c.1106T>A (p.Val369Glu) | |
| 1 | g.7663665T>C | CA17244112 | CAMTA1 | c.1118T>C (p.Val373Ala) c.*969T>C (n.*969T>C) c.1028T>C (p.Val343Ala) c.1046T>C (p.Val349Ala) c.*887T>C (n.*887T>C) c.1106T>C (p.Val369Ala) | dbSNP |
| 1 | g.7663665T>G | CA338125069 | CAMTA1 | c.1118T>G (p.Val373Gly) c.*969T>G (n.*969T>G) c.1028T>G (p.Val343Gly) c.1046T>G (p.Val349Gly) c.*887T>G (n.*887T>G) c.1106T>G (p.Val369Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.7663665T= | CA1152023689 | CAMTA1 | c.1118T= (p.Val373=) c.*969T= (n.*969T=) c.1028T= (p.Val343=) c.1046T= (p.Val349=) c.*887T= (n.*887T=) c.1106T= (p.Val369=) | |
| 1 | g.7663666G>A | CA416026494 | CAMTA1 | c.1119G>A (p.Val373=) c.*970G>A (n.*970G>A) c.1029G>A (p.Val343=) c.1047G>A (p.Val349=) c.*888G>A (n.*888G>A) c.1107G>A (p.Val369=) | gnomAD v4 |
| 1 | g.7663666G>C | CA416026495 | CAMTA1 | c.1119G>C (p.Val373=) c.*970G>C (n.*970G>C) c.1029G>C (p.Val343=) c.1047G>C (p.Val349=) c.*888G>C (n.*888G>C) c.1107G>C (p.Val369=) | |
| 1 | g.7663666G>T | CA416026497 | CAMTA1 | c.1119G>T (p.Val373=) c.*970G>T (n.*970G>T) c.1029G>T (p.Val343=) c.1047G>T (p.Val349=) c.*888G>T (n.*888G>T) c.1107G>T (p.Val369=) | |
| 1 | g.7663666_7663667insTACACGGCCTCATTGGTGACCTCT | CA2742356573 | CAMTA1 | c.1119_1120insTACACGGCCTCATTGGTGACCTCT (p.Val373_Asp374insTyrThrAlaSerLeuValThrSer) c.*970_*971insTACACGGCCTCATTGGTGACCTCT (n.*970_*971insTACACGGCCTCATTGGTGACCTCT) c.1029_1030insTACACGGCCTCATTGGTGACCTCT (p.Val343_Asp344insTyrThrAlaSerLeuValThrSer) c.1047_1048insTACACGGCCTCATTGGTGACCTCT (p.Val349_Asp350insTyrThrAlaSerLeuValThrSer) c.*888_*889insTACACGGCCTCATTGGTGACCTCT (n.*888_*889insTACACGGCCTCATTGGTGACCTCT) c.1107_1108insTACACGGCCTCATTGGTGACCTCT (p.Val369_Asp370insTyrThrAlaSerLeuValThrSer) | |
| 1 | g.7663667G>A | CA338125082 | CAMTA1 | c.1120G>A (p.Asp374Asn) c.*971G>A (n.*971G>A) c.1030G>A (p.Asp344Asn) c.1048G>A (p.Asp350Asn) c.*889G>A (n.*889G>A) c.1108G>A (p.Asp370Asn) | |
| 1 | g.7663667G>C | CA338125088 | CAMTA1 | c.1120G>C (p.Asp374His) c.*971G>C (n.*971G>C) c.1030G>C (p.Asp344His) c.1048G>C (p.Asp350His) c.*889G>C (n.*889G>C) c.1108G>C (p.Asp370His) | |
| 1 | g.7663667G>T | CA338125095 | CAMTA1 | c.1120G>T (p.Asp374Tyr) c.*971G>T (n.*971G>T) c.1030G>T (p.Asp344Tyr) c.1048G>T (p.Asp350Tyr) c.*889G>T (n.*889G>T) c.1108G>T (p.Asp370Tyr) | |
| 1 | g.7663668A= | CA1152023690 | CAMTA1 | c.1121A= (p.Asp374=) c.*972A= (n.*972A=) c.1031A= (p.Asp344=) c.1049A= (p.Asp350=) c.*890A= (n.*890A=) c.1109A= (p.Asp370=) | |
| 1 | g.7663668A>C | CA338125101 | CAMTA1 | c.1121A>C (p.Asp374Ala) c.*972A>C (n.*972A>C) c.1031A>C (p.Asp344Ala) c.1049A>C (p.Asp350Ala) c.*890A>C (n.*890A>C) c.1109A>C (p.Asp370Ala) | |
| 1 | g.7663668A>G | CA338125102 | CAMTA1 | c.1121A>G (p.Asp374Gly) c.*972A>G (n.*972A>G) c.1031A>G (p.Asp344Gly) c.1049A>G (p.Asp350Gly) c.*890A>G (n.*890A>G) c.1109A>G (p.Asp370Gly) | |
| 1 | g.7663668A>T | CA338125104 | CAMTA1 | c.1121A>T (p.Asp374Val) c.*972A>T (n.*972A>T) c.1031A>T (p.Asp344Val) c.1049A>T (p.Asp350Val) c.*890A>T (n.*890A>T) c.1109A>T (p.Asp370Val) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.7663669C>A | CA338125109 | CAMTA1 | c.1122C>A (p.Asp374Glu) c.*973C>A (n.*973C>A) c.1032C>A (p.Asp344Glu) c.1050C>A (p.Asp350Glu) c.*891C>A (n.*891C>A) c.1110C>A (p.Asp370Glu) | |
| 1 | g.7663669C>G | CA338125105 | CAMTA1 | c.1122C>G (p.Asp374Glu) c.*973C>G (n.*973C>G) c.1032C>G (p.Asp344Glu) c.1050C>G (p.Asp350Glu) c.*891C>G (n.*891C>G) c.1110C>G (p.Asp370Glu) | |
| 1 | g.7663669C>T | CA416026500 | CAMTA1 | c.1122C>T (p.Asp374=) c.*973C>T (n.*973C>T) c.1032C>T (p.Asp344=) c.1050C>T (p.Asp350=) c.*891C>T (n.*891C>T) c.1110C>T (p.Asp370=) | |
| 1 | g.7663670A>C | CA338125119 | CAMTA1 | c.1123A>C (p.Ser375Arg) c.*974A>C (n.*974A>C) c.1033A>C (p.Ser345Arg) c.1051A>C (p.Ser351Arg) c.*892A>C (n.*892A>C) c.1111A>C (p.Ser371Arg) | |
| 1 | g.7663670A>G | CA338125125 | CAMTA1 | c.1123A>G (p.Ser375Gly) c.*974A>G (n.*974A>G) c.1033A>G (p.Ser345Gly) c.1051A>G (p.Ser351Gly) c.*892A>G (n.*892A>G) c.1111A>G (p.Ser371Gly) | |
| 1 | g.7663670A>T | CA338125126 | CAMTA1 | c.1123A>T (p.Ser375Cys) c.*974A>T (n.*974A>T) c.1033A>T (p.Ser345Cys) c.1051A>T (p.Ser351Cys) c.*892A>T (n.*892A>T) c.1111A>T (p.Ser371Cys) | |
| 1 | g.7663671G>A | CA338125127 | CAMTA1 | c.1124G>A (p.Ser375Asn) c.*975G>A (n.*975G>A) c.1034G>A (p.Ser345Asn) c.1052G>A (p.Ser351Asn) c.*893G>A (n.*893G>A) c.1112G>A (p.Ser371Asn) | |
| 1 | g.7663671G>C | CA338125128 | CAMTA1 | c.1124G>C (p.Ser375Thr) c.*975G>C (n.*975G>C) c.1034G>C (p.Ser345Thr) c.1052G>C (p.Ser351Thr) c.*893G>C (n.*893G>C) c.1112G>C (p.Ser371Thr) | |
| 1 | g.7663671G>T | CA338125132 | CAMTA1 | c.1124G>T (p.Ser375Ile) c.*975G>T (n.*975G>T) c.1034G>T (p.Ser345Ile) c.1052G>T (p.Ser351Ile) c.*893G>T (n.*893G>T) c.1112G>T (p.Ser371Ile) | |
| 1 | g.7663672C>A | CA338125136 | CAMTA1 | c.1125C>A (p.Ser375Arg) c.*976C>A (n.*976C>A) c.1035C>A (p.Ser345Arg) c.1053C>A (p.Ser351Arg) c.*894C>A (n.*894C>A) c.1113C>A (p.Ser371Arg) | |
| 1 | g.7663672C= | CA1152023691 | CAMTA1 | c.1125C= (p.Ser375=) c.*976C= (n.*976C=) c.1035C= (p.Ser345=) c.1053C= (p.Ser351=) c.*894C= (n.*894C=) c.1113C= (p.Ser371=) | |
| 1 | g.7663672C>G | CA338125154 | CAMTA1 | c.1125C>G (p.Ser375Arg) c.*976C>G (n.*976C>G) c.1035C>G (p.Ser345Arg) c.1053C>G (p.Ser351Arg) c.*894C>G (n.*894C>G) c.1113C>G (p.Ser371Arg) | |
| 1 | g.7663672C>T | CA416026504 | CAMTA1 | c.1125C>T (p.Ser375=) c.*976C>T (n.*976C>T) c.1035C>T (p.Ser345=) c.1053C>T (p.Ser351=) c.*894C>T (n.*894C>T) c.1113C>T (p.Ser371=) | dbSNP gnomAD v4 |
| 1 | g.7663673C>A | CA338125169 | CAMTA1 | c.1126C>A (p.Pro376Thr) c.*977C>A (n.*977C>A) c.1036C>A (p.Pro346Thr) c.1054C>A (p.Pro352Thr) c.*895C>A (n.*895C>A) c.1114C>A (p.Pro372Thr) | |
| 1 | g.7663673C= | CA1152023692 | CAMTA1 | c.1126C= (p.Pro376=) c.*977C= (n.*977C=) c.1036C= (p.Pro346=) c.1054C= (p.Pro352=) c.*895C= (n.*895C=) c.1114C= (p.Pro372=) | |
| 1 | g.7663673C>G | CA566372 | CAMTA1 | c.1126C>G (p.Pro376Ala) c.*977C>G (n.*977C>G) c.1036C>G (p.Pro346Ala) c.1054C>G (p.Pro352Ala) c.*895C>G (n.*895C>G) c.1114C>G (p.Pro372Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.7663673C>T | CA338125174 | CAMTA1 | c.1126C>T (p.Pro376Ser) c.*977C>T (n.*977C>T) c.1036C>T (p.Pro346Ser) c.1054C>T (p.Pro352Ser) c.*895C>T (n.*895C>T) c.1114C>T (p.Pro372Ser) | |
| 1 | g.7663674C>A | CA338125191 | CAMTA1 | c.1127C>A (p.Pro376Gln) c.*978C>A (n.*978C>A) c.1037C>A (p.Pro346Gln) c.1055C>A (p.Pro352Gln) c.*896C>A (n.*896C>A) c.1115C>A (p.Pro372Gln) | |
| 1 | g.7663674C= | CA1152023693 | CAMTA1 | c.1127C= (p.Pro376=) c.*978C= (n.*978C=) c.1037C= (p.Pro346=) c.1055C= (p.Pro352=) c.*896C= (n.*896C=) c.1115C= (p.Pro372=) | |
| 1 | g.7663674C>G | CA338125198 | CAMTA1 | c.1127C>G (p.Pro376Arg) c.*978C>G (n.*978C>G) c.1037C>G (p.Pro346Arg) c.1055C>G (p.Pro352Arg) c.*896C>G (n.*896C>G) c.1115C>G (p.Pro372Arg) | |
| 1 | g.7663674C>T | CA566373 | CAMTA1 | c.1127C>T (p.Pro376Leu) c.*978C>T (n.*978C>T) c.1037C>T (p.Pro346Leu) c.1055C>T (p.Pro352Leu) c.*896C>T (n.*896C>T) c.1115C>T (p.Pro372Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.7663675G>A | CA566374 | CAMTA1 | c.1128G>A (p.Pro376=) c.*979G>A (n.*979G>A) c.1038G>A (p.Pro346=) c.1056G>A (p.Pro352=) c.*897G>A (n.*897G>A) c.1116G>A (p.Pro372=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.7663675G>C | CA416026508 | CAMTA1 | c.1128G>C (p.Pro376=) c.*979G>C (n.*979G>C) c.1038G>C (p.Pro346=) c.1056G>C (p.Pro352=) c.*897G>C (n.*897G>C) c.1116G>C (p.Pro372=) | |
| 1 | g.7663675G= | CA1152023694 | CAMTA1 | c.1128G= (p.Pro376=) c.*979G= (n.*979G=) c.1038G= (p.Pro346=) c.1056G= (p.Pro352=) c.*897G= (n.*897G=) c.1116G= (p.Pro372=) | |
| 1 | g.7663675G>T | CA416026506 | CAMTA1 | c.1128G>T (p.Pro376=) c.*979G>T (n.*979G>T) c.1038G>T (p.Pro346=) c.1056G>T (p.Pro352=) c.*897G>T (n.*897G>T) c.1116G>T (p.Pro372=) | |
| 1 | g.7663676G>A | CA338125199 | CAMTA1 | c.1129G>A (p.Val377Met) c.*980G>A (n.*980G>A) c.1039G>A (p.Val347Met) c.1057G>A (p.Val353Met) c.*898G>A (n.*898G>A) c.1117G>A (p.Val373Met) | |
| 1 | g.7663676G>C | CA338125202 | CAMTA1 | c.1129G>C (p.Val377Leu) c.*980G>C (n.*980G>C) c.1039G>C (p.Val347Leu) c.1057G>C (p.Val353Leu) c.*898G>C (n.*898G>C) c.1117G>C (p.Val373Leu) | |
| 1 | g.7663676G>T | CA338125200 | CAMTA1 | c.1129G>T (p.Val377Leu) c.*980G>T (n.*980G>T) c.1039G>T (p.Val347Leu) c.1057G>T (p.Val353Leu) c.*898G>T (n.*898G>T) c.1117G>T (p.Val373Leu) | |
| 1 | g.7663677T>A | CA338125203 | CAMTA1 | c.1130T>A (p.Val377Glu) c.*981T>A (n.*981T>A) c.1040T>A (p.Val347Glu) c.1058T>A (p.Val353Glu) c.*899T>A (n.*899T>A) c.1118T>A (p.Val373Glu) | |
| 1 | g.7663677T>C | CA338125209 | CAMTA1 | c.1130T>C (p.Val377Ala) c.*981T>C (n.*981T>C) c.1040T>C (p.Val347Ala) c.1058T>C (p.Val353Ala) c.*899T>C (n.*899T>C) c.1118T>C (p.Val373Ala) | COSMIC |
| 1 | g.7663677T>G | CA338125212 | CAMTA1 | c.1130T>G (p.Val377Gly) c.*981T>G (n.*981T>G) c.1040T>G (p.Val347Gly) c.1058T>G (p.Val353Gly) c.*899T>G (n.*899T>G) c.1118T>G (p.Val373Gly) | |
| 1 | g.7663677T= | CA1152023695 | CAMTA1 | c.1130T= (p.Val377=) c.*981T= (n.*981T=) c.1040T= (p.Val347=) c.1058T= (p.Val353=) c.*899T= (n.*899T=) c.1118T= (p.Val373=) | |
| 1 | g.7663678G>A | CA416026513 | CAMTA1 | c.1131G>A (p.Val377=) c.*982G>A (n.*982G>A) c.1041G>A (p.Val347=) c.1059G>A (p.Val353=) c.*900G>A (n.*900G>A) c.1119G>A (p.Val373=) | |
| 1 | g.7663678G>C | CA416026514 | CAMTA1 | c.1131G>C (p.Val377=) c.*982G>C (n.*982G>C) c.1041G>C (p.Val347=) c.1059G>C (p.Val353=) c.*900G>C (n.*900G>C) c.1119G>C (p.Val373=) | |
| 1 | g.7663678G>T | CA416026515 | CAMTA1 | c.1131G>T (p.Val377=) c.*982G>T (n.*982G>T) c.1041G>T (p.Val347=) c.1059G>T (p.Val353=) c.*900G>T (n.*900G>T) c.1119G>T (p.Val373=) | |
| 1 | g.7663679dup | CA16617189 | CAMTA1 | c.1132dup (p.Val378GlyfsTer30) c.*983dup (n.*983dup) c.1042dup (p.Val348GlyfsTer30) c.1060dup (p.Val354GlyfsTer30) c.*901dup (n.*901dup) c.1120dup (p.Val374GlyfsTer30) | ClinVar dbSNP |
| 1 | g.7663679G>A | CA338125216 | CAMTA1 | c.1132G>A (p.Val378Ile) c.*983G>A (n.*983G>A) c.1042G>A (p.Val348Ile) c.1060G>A (p.Val354Ile) c.*901G>A (n.*901G>A) c.1120G>A (p.Val374Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.7663679G>C | CA338125221 | CAMTA1 | c.1132G>C (p.Val378Leu) c.*983G>C (n.*983G>C) c.1042G>C (p.Val348Leu) c.1060G>C (p.Val354Leu) c.*901G>C (n.*901G>C) c.1120G>C (p.Val374Leu) | |
| 1 | g.7663679G= | CA1152023696 | CAMTA1 | c.1132G= (p.Val378=) c.*983G= (n.*983G=) c.1042G= (p.Val348=) c.1060G= (p.Val354=) c.*901G= (n.*901G=) c.1120G= (p.Val374=) | |
| 1 | g.7663679G>T | CA338125222 | CAMTA1 | c.1132G>T (p.Val378Phe) c.*983G>T (n.*983G>T) c.1042G>T (p.Val348Phe) c.1060G>T (p.Val354Phe) c.*901G>T (n.*901G>T) c.1120G>T (p.Val374Phe) | |
| 1 | g.7663680T>A | CA338125229 | CAMTA1 | c.1133T>A (p.Val378Asp) c.*984T>A (n.*984T>A) c.1043T>A (p.Val348Asp) c.1061T>A (p.Val354Asp) c.*902T>A (n.*902T>A) c.1121T>A (p.Val374Asp) | |
| 1 | g.7663680T>C | CA338125236 | CAMTA1 | c.1133T>C (p.Val378Ala) c.*984T>C (n.*984T>C) c.1043T>C (p.Val348Ala) c.1061T>C (p.Val354Ala) c.*902T>C (n.*902T>C) c.1121T>C (p.Val374Ala) | dbSNP |
| 1 | g.7663680T>G | CA338125240 | CAMTA1 | c.1133T>G (p.Val378Gly) c.*984T>G (n.*984T>G) c.1043T>G (p.Val348Gly) c.1061T>G (p.Val354Gly) c.*902T>G (n.*902T>G) c.1121T>G (p.Val374Gly) | |
| 1 | g.7663680T= | CA1152023697 | CAMTA1 | c.1133T= (p.Val378=) c.*984T= (n.*984T=) c.1043T= (p.Val348=) c.1061T= (p.Val354=) c.*902T= (n.*902T=) c.1121T= (p.Val374=) | |
| 1 | g.7663681C>A | CA416026517 | CAMTA1 | c.1134C>A (p.Val378=) c.*985C>A (n.*985C>A) c.1044C>A (p.Val348=) c.1062C>A (p.Val354=) c.*903C>A (n.*903C>A) c.1122C>A (p.Val374=) | |
| 1 | g.7663681C= | CA1152023698 | CAMTA1 | c.1134C= (p.Val378=) c.*985C= (n.*985C=) c.1044C= (p.Val348=) c.1062C= (p.Val354=) c.*903C= (n.*903C=) c.1122C= (p.Val374=) | |
| 1 | g.7663681C>G | CA416026518 | CAMTA1 | c.1134C>G (p.Val378=) c.*985C>G (n.*985C>G) c.1044C>G (p.Val348=) c.1062C>G (p.Val354=) c.*903C>G (n.*903C>G) c.1122C>G (p.Val374=) | dbSNP |
| 1 | g.7663681C>T | CA416026519 | CAMTA1 | c.1134C>T (p.Val378=) c.*985C>T (n.*985C>T) c.1044C>T (p.Val348=) c.1062C>T (p.Val354=) c.*903C>T (n.*903C>T) c.1122C>T (p.Val374=) | |
| 1 | g.7663682A>C | CA338125246 | CAMTA1 | c.1135A>C (p.Thr379Pro) c.*986A>C (n.*986A>C) c.1045A>C (p.Thr349Pro) c.1063A>C (p.Thr355Pro) c.*904A>C (n.*904A>C) c.1123A>C (p.Thr375Pro) | |
| 1 | g.7663682A>G | CA338125247 | CAMTA1 | c.1135A>G (p.Thr379Ala) c.*986A>G (n.*986A>G) c.1045A>G (p.Thr349Ala) c.1063A>G (p.Thr355Ala) c.*904A>G (n.*904A>G) c.1123A>G (p.Thr375Ala) | |
| 1 | g.7663682A>T | CA338125252 | CAMTA1 | c.1135A>T (p.Thr379Ser) c.*986A>T (n.*986A>T) c.1045A>T (p.Thr349Ser) c.1063A>T (p.Thr355Ser) c.*904A>T (n.*904A>T) c.1123A>T (p.Thr375Ser) | |
| 1 | g.7663683C>A | CA338125254 | CAMTA1 | c.1136C>A (p.Thr379Lys) c.*987C>A (n.*987C>A) c.1046C>A (p.Thr349Lys) c.1064C>A (p.Thr355Lys) c.*905C>A (n.*905C>A) c.1124C>A (p.Thr375Lys) | |
| 1 | g.7663683C>G | CA338125260 | CAMTA1 | c.1136C>G (p.Thr379Arg) c.*987C>G (n.*987C>G) c.1046C>G (p.Thr349Arg) c.1064C>G (p.Thr355Arg) c.*905C>G (n.*905C>G) c.1124C>G (p.Thr375Arg) | |
| 1 | g.7663683C>T | CA338125256 | CAMTA1 | c.1136C>T (p.Thr379Ile) c.*987C>T (n.*987C>T) c.1046C>T (p.Thr349Ile) c.1064C>T (p.Thr355Ile) c.*905C>T (n.*905C>T) c.1124C>T (p.Thr375Ile) | |
| 1 | g.7663684A= | CA1152023699 | CAMTA1 | c.1137A= (p.Thr379=) c.*988A= (n.*988A=) c.1047A= (p.Thr349=) c.1065A= (p.Thr355=) c.*906A= (n.*906A=) c.1125A= (p.Thr375=) | |
| 1 | g.7663684A>C | CA416026524 | CAMTA1 | c.1137A>C (p.Thr379=) c.*988A>C (n.*988A>C) c.1047A>C (p.Thr349=) c.1065A>C (p.Thr355=) c.*906A>C (n.*906A>C) c.1125A>C (p.Thr375=) | |
| 1 | g.7663684A>G | CA17244136 | CAMTA1 | c.1137A>G (p.Thr379=) c.*988A>G (n.*988A>G) c.1047A>G (p.Thr349=) c.1065A>G (p.Thr355=) c.*906A>G (n.*906A>G) c.1125A>G (p.Thr375=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.7663684A>T | CA416026523 | CAMTA1 | c.1137A>T (p.Thr379=) c.*988A>T (n.*988A>T) c.1047A>T (p.Thr349=) c.1065A>T (p.Thr355=) c.*906A>T (n.*906A>T) c.1125A>T (p.Thr375=) | |
| 1 | g.7663685G>A | CA338125271 | CAMTA1 | c.1138G>A (p.Gly380Ser) c.*989G>A (n.*989G>A) c.1048G>A (p.Gly350Ser) c.1066G>A (p.Gly356Ser) c.*907G>A (n.*907G>A) c.1126G>A (p.Gly376Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.7663685G>C | CA338125283 | CAMTA1 | c.1138G>C (p.Gly380Arg) c.*989G>C (n.*989G>C) c.1048G>C (p.Gly350Arg) c.1066G>C (p.Gly356Arg) c.*907G>C (n.*907G>C) c.1126G>C (p.Gly376Arg) | |
| 1 | g.7663685G= | CA1152023700 | CAMTA1 | c.1138G= (p.Gly380=) c.*989G= (n.*989G=) c.1048G= (p.Gly350=) c.1066G= (p.Gly356=) c.*907G= (n.*907G=) c.1126G= (p.Gly376=) | |
| 1 | g.7663685G>T | CA338125289 | CAMTA1 | c.1138G>T (p.Gly380Cys) c.*989G>T (n.*989G>T) c.1048G>T (p.Gly350Cys) c.1066G>T (p.Gly356Cys) c.*907G>T (n.*907G>T) c.1126G>T (p.Gly376Cys) | |
| 1 | g.7663686G>A | CA566375 | CAMTA1 | c.1139G>A (p.Gly380Asp) c.*990G>A (n.*990G>A) c.1049G>A (p.Gly350Asp) c.1067G>A (p.Gly356Asp) c.*908G>A (n.*908G>A) c.1127G>A (p.Gly376Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.7663686G>C | CA338125297 | CAMTA1 | c.1139G>C (p.Gly380Ala) c.*990G>C (n.*990G>C) c.1049G>C (p.Gly350Ala) c.1067G>C (p.Gly356Ala) c.*908G>C (n.*908G>C) c.1127G>C (p.Gly376Ala) | |
| 1 | g.7663686G= | CA1152023701 | CAMTA1 | c.1139G= (p.Gly380=) c.*990G= (n.*990G=) c.1049G= (p.Gly350=) c.1067G= (p.Gly356=) c.*908G= (n.*908G=) c.1127G= (p.Gly376=) | |
| 1 | g.7663686G>T | CA338125302 | CAMTA1 | c.1139G>T (p.Gly380Val) c.*990G>T (n.*990G>T) c.1049G>T (p.Gly350Val) c.1067G>T (p.Gly356Val) c.*908G>T (n.*908G>T) c.1127G>T (p.Gly376Val) | |
| 1 | g.7663687T>A | CA416026526 | CAMTA1 | c.1140T>A (p.Gly380=) c.*991T>A (n.*991T>A) c.1050T>A (p.Gly350=) c.1068T>A (p.Gly356=) c.*909T>A (n.*909T>A) c.1128T>A (p.Gly376=) | |
| 1 | g.7663687T>C | CA416026528 | CAMTA1 | c.1140T>C (p.Gly380=) c.*991T>C (n.*991T>C) c.1050T>C (p.Gly350=) c.1068T>C (p.Gly356=) c.*909T>C (n.*909T>C) c.1128T>C (p.Gly376=) | gnomAD v4 |
| 1 | g.7663687T>G | CA416026529 | CAMTA1 | c.1140T>G (p.Gly380=) c.*991T>G (n.*991T>G) c.1050T>G (p.Gly350=) c.1068T>G (p.Gly356=) c.*909T>G (n.*909T>G) c.1128T>G (p.Gly376=) | |
| 1 | g.7663688G>A | CA338125308 | CAMTA1 | c.1141G>A (p.Val381Met) c.*992G>A (n.*992G>A) c.1051G>A (p.Val351Met) c.1069G>A (p.Val357Met) c.*910G>A (n.*910G>A) c.1129G>A (p.Val377Met) | |
| 1 | g.7663688G>C | CA338125321 | CAMTA1 | c.1141G>C (p.Val381Leu) c.*992G>C (n.*992G>C) c.1051G>C (p.Val351Leu) c.1069G>C (p.Val357Leu) c.*910G>C (n.*910G>C) c.1129G>C (p.Val377Leu) | COSMIC |
| 1 | g.7663688G>T | CA338125334 | CAMTA1 | c.1141G>T (p.Val381Leu) c.*992G>T (n.*992G>T) c.1051G>T (p.Val351Leu) c.1069G>T (p.Val357Leu) c.*910G>T (n.*910G>T) c.1129G>T (p.Val377Leu) | |
| 1 | g.7663689T>A | CA338125339 | CAMTA1 | c.1142T>A (p.Val381Glu) c.*993T>A (n.*993T>A) c.1052T>A (p.Val351Glu) c.1070T>A (p.Val357Glu) c.*911T>A (n.*911T>A) c.1130T>A (p.Val377Glu) | |
| 1 | g.7663689T>C | CA338125343 | CAMTA1 | c.1142T>C (p.Val381Ala) c.*993T>C (n.*993T>C) c.1052T>C (p.Val351Ala) c.1070T>C (p.Val357Ala) c.*911T>C (n.*911T>C) c.1130T>C (p.Val377Ala) | |
| 1 | g.7663689T>G | CA338125347 | CAMTA1 | c.1142T>G (p.Val381Gly) c.*993T>G (n.*993T>G) c.1052T>G (p.Val351Gly) c.1070T>G (p.Val357Gly) c.*911T>G (n.*911T>G) c.1130T>G (p.Val377Gly) | |
| 1 | g.7663691_7663699del | CA2574196933 | CAMTA1 | c.1144_1152del (p.Ser382_Met384del) c.*995_*1003del (n.*995_*1003del) c.1054_1062del (p.Ser352_Met354del) c.1072_1080del (p.Ser358_Met360del) c.*913_*921del (n.*913_*921del) c.1132_1140del (p.Ser378_Met380del) | |
| 1 | g.7663690G>A | CA416026533 | CAMTA1 | c.1143G>A (p.Val381=) c.*994G>A (n.*994G>A) c.1053G>A (p.Val351=) c.1071G>A (p.Val357=) c.*912G>A (n.*912G>A) c.1131G>A (p.Val377=) | |
| 1 | g.7663690G>C | CA416026535 | CAMTA1 | c.1143G>C (p.Val381=) c.*994G>C (n.*994G>C) c.1053G>C (p.Val351=) c.1071G>C (p.Val357=) c.*912G>C (n.*912G>C) c.1131G>C (p.Val377=) | |
| 1 | g.7663690G>T | CA416026538 | CAMTA1 | c.1143G>T (p.Val381=) c.*994G>T (n.*994G>T) c.1053G>T (p.Val351=) c.1071G>T (p.Val357=) c.*912G>T (n.*912G>T) c.1131G>T (p.Val377=) | |
| 1 | g.7663691T>A | CA338125371 | CAMTA1 | c.1144T>A (p.Ser382Thr) c.*995T>A (n.*995T>A) c.1054T>A (p.Ser352Thr) c.1072T>A (p.Ser358Thr) c.*913T>A (n.*913T>A) c.1132T>A (p.Ser378Thr) | |
| 1 | g.7663691T>C | CA338125351 | CAMTA1 | c.1144T>C (p.Ser382Pro) c.*995T>C (n.*995T>C) c.1054T>C (p.Ser352Pro) c.1072T>C (p.Ser358Pro) c.*913T>C (n.*913T>C) c.1132T>C (p.Ser378Pro) | |
| 1 | g.7663691T>G | CA566376 | CAMTA1 | c.1144T>G (p.Ser382Ala) c.*995T>G (n.*995T>G) c.1054T>G (p.Ser352Ala) c.1072T>G (p.Ser358Ala) c.*913T>G (n.*913T>G) c.1132T>G (p.Ser378Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.7663691T= | CA1143393870 | CAMTA1 | c.1144T= (p.Ser382=) c.*995T= (n.*995T=) c.1054T= (p.Ser352=) c.1072T= (p.Ser358=) c.*913T= (n.*913T=) c.1132T= (p.Ser378=) | |
| 1 | g.7663692C>A | CA338125374 | CAMTA1 | c.1145C>A (p.Ser382Tyr) c.*996C>A (n.*996C>A) c.1055C>A (p.Ser352Tyr) c.1073C>A (p.Ser358Tyr) c.*914C>A (n.*914C>A) c.1133C>A (p.Ser378Tyr) | |
| 1 | g.7663692C>G | CA338125378 | CAMTA1 | c.1145C>G (p.Ser382Cys) c.*996C>G (n.*996C>G) c.1055C>G (p.Ser352Cys) c.1073C>G (p.Ser358Cys) c.*914C>G (n.*914C>G) c.1133C>G (p.Ser378Cys) | |
| 1 | g.7663692C>T | CA338125394 | CAMTA1 | c.1145C>T (p.Ser382Phe) c.*996C>T (n.*996C>T) c.1055C>T (p.Ser352Phe) c.1073C>T (p.Ser358Phe) c.*914C>T (n.*914C>T) c.1133C>T (p.Ser378Phe) | |
| 1 | g.7663693C>A | CA416026539 | CAMTA1 | c.1146C>A (p.Ser382=) c.*997C>A (n.*997C>A) c.1056C>A (p.Ser352=) c.1074C>A (p.Ser358=) c.*915C>A (n.*915C>A) c.1134C>A (p.Ser378=) | |
| 1 | g.7663693C= | CA1152023702 | CAMTA1 | c.1146C= (p.Ser382=) c.*997C= (n.*997C=) c.1056C= (p.Ser352=) c.1074C= (p.Ser358=) c.*915C= (n.*915C=) c.1134C= (p.Ser378=) | |
| 1 | g.7663693C>G | CA416026541 | CAMTA1 | c.1146C>G (p.Ser382=) c.*997C>G (n.*997C>G) c.1056C>G (p.Ser352=) c.1074C>G (p.Ser358=) c.*915C>G (n.*915C>G) c.1134C>G (p.Ser378=) | |
| 1 | g.7663693C>T | CA566377 | CAMTA1 | c.1146C>T (p.Ser382=) c.*997C>T (n.*997C>T) c.1056C>T (p.Ser352=) c.1074C>T (p.Ser358=) c.*915C>T (n.*915C>T) c.1134C>T (p.Ser378=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.7663694G>A | CA566378 | CAMTA1 | c.1147G>A (p.Gly383Ser) c.*998G>A (n.*998G>A) c.1057G>A (p.Gly353Ser) c.1075G>A (p.Gly359Ser) c.*916G>A (n.*916G>A) c.1135G>A (p.Gly379Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.7663694G>C | CA338125432 | CAMTA1 | c.1147G>C (p.Gly383Arg) c.*998G>C (n.*998G>C) c.1057G>C (p.Gly353Arg) c.1075G>C (p.Gly359Arg) c.*916G>C (n.*916G>C) c.1135G>C (p.Gly379Arg) | |
| 1 | g.7663694G= | CA1141658007 | CAMTA1 | c.1147G= (p.Gly383=) c.*998G= (n.*998G=) c.1057G= (p.Gly353=) c.1075G= (p.Gly359=) c.*916G= (n.*916G=) c.1135G= (p.Gly379=) | |
| 1 | g.7663694G>T | CA338125436 | CAMTA1 | c.1147G>T (p.Gly383Cys) c.*998G>T (n.*998G>T) c.1057G>T (p.Gly353Cys) c.1075G>T (p.Gly359Cys) c.*916G>T (n.*916G>T) c.1135G>T (p.Gly379Cys) | |
| 1 | g.7663695G>A | CA338125441 | CAMTA1 | c.1148G>A (p.Gly383Asp) c.*999G>A (n.*999G>A) c.1058G>A (p.Gly353Asp) c.1076G>A (p.Gly359Asp) c.*917G>A (n.*917G>A) c.1136G>A (p.Gly379Asp) | |
| 1 | g.7663695G>C | CA338125443 | CAMTA1 | c.1148G>C (p.Gly383Ala) c.*999G>C (n.*999G>C) c.1058G>C (p.Gly353Ala) c.1076G>C (p.Gly359Ala) c.*917G>C (n.*917G>C) c.1136G>C (p.Gly379Ala) | |
| 1 | g.7663695G>T | CA338125455 | CAMTA1 | c.1148G>T (p.Gly383Val) c.*999G>T (n.*999G>T) c.1058G>T (p.Gly353Val) c.1076G>T (p.Gly359Val) c.*917G>T (n.*917G>T) c.1136G>T (p.Gly379Val) | COSMIC COSMIC |
| 1 | g.7663696T>A | CA416026545 | CAMTA1 | c.1149T>A (p.Gly383=) c.*1000T>A (n.*1000T>A) c.1059T>A (p.Gly353=) c.1077T>A (p.Gly359=) c.*918T>A (n.*918T>A) c.1137T>A (p.Gly379=) | |
| 1 | g.7663696T>C | CA566379 | CAMTA1 | c.1149T>C (p.Gly383=) c.*1000T>C (n.*1000T>C) c.1059T>C (p.Gly353=) c.1077T>C (p.Gly359=) c.*918T>C (n.*918T>C) c.1137T>C (p.Gly379=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.7663696T>G | CA416026547 | CAMTA1 | c.1149T>G (p.Gly383=) c.*1000T>G (n.*1000T>G) c.1059T>G (p.Gly353=) c.1077T>G (p.Gly359=) c.*918T>G (n.*918T>G) c.1137T>G (p.Gly379=) | |
| 1 | g.7663696T= | CA1147709531 | CAMTA1 | c.1149T= (p.Gly383=) c.*1000T= (n.*1000T=) c.1059T= (p.Gly353=) c.1077T= (p.Gly359=) c.*918T= (n.*918T=) c.1137T= (p.Gly379=) | |
| 1 | g.7663697A>C | CA338125476 | CAMTA1 | c.1150A>C (p.Met384Leu) c.*1001A>C (n.*1001A>C) c.1060A>C (p.Met354Leu) c.1078A>C (p.Met360Leu) c.*919A>C (n.*919A>C) c.1138A>C (p.Met380Leu) | |
| 1 | g.7663697A>G | CA338125484 | CAMTA1 | c.1150A>G (p.Met384Val) c.*1001A>G (n.*1001A>G) c.1060A>G (p.Met354Val) c.1078A>G (p.Met360Val) c.*919A>G (n.*919A>G) c.1138A>G (p.Met380Val) | |
| 1 | g.7663697A>T | CA338125482 | CAMTA1 | c.1150A>T (p.Met384Leu) c.*1001A>T (n.*1001A>T) c.1060A>T (p.Met354Leu) c.1078A>T (p.Met360Leu) c.*919A>T (n.*919A>T) c.1138A>T (p.Met380Leu) | gnomAD v4 |
| 1 | g.7663698T>A | CA338125490 | CAMTA1 | c.1151T>A (p.Met384Lys) c.*1002T>A (n.*1002T>A) c.1061T>A (p.Met354Lys) c.1079T>A (p.Met360Lys) c.*920T>A (n.*920T>A) c.1139T>A (p.Met380Lys) | |
| 1 | g.7663698T>C | CA566380 | CAMTA1 | c.1151T>C (p.Met384Thr) c.*1002T>C (n.*1002T>C) c.1061T>C (p.Met354Thr) c.1079T>C (p.Met360Thr) c.*920T>C (n.*920T>C) c.1139T>C (p.Met380Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.7663698T>G | CA338125492 | CAMTA1 | c.1151T>G (p.Met384Arg) c.*1002T>G (n.*1002T>G) c.1061T>G (p.Met354Arg) c.1079T>G (p.Met360Arg) c.*920T>G (n.*920T>G) c.1139T>G (p.Met380Arg) | |
| 1 | g.7663698T= | CA1152023703 | CAMTA1 | c.1151T= (p.Met384=) c.*1002T= (n.*1002T=) c.1061T= (p.Met354=) c.1079T= (p.Met360=) c.*920T= (n.*920T=) c.1139T= (p.Met380=) | |
| 1 | g.7663699G>A | CA338125503 | CAMTA1 | c.1152G>A (p.Met384Ile) c.*1003G>A (n.*1003G>A) c.1062G>A (p.Met354Ile) c.1080G>A (p.Met360Ile) c.*921G>A (n.*921G>A) c.1140G>A (p.Met380Ile) | gnomAD v4 |
| 1 | g.7663699G>C | CA338125511 | CAMTA1 | c.1152G>C (p.Met384Ile) c.*1003G>C (n.*1003G>C) c.1062G>C (p.Met354Ile) c.1080G>C (p.Met360Ile) c.*921G>C (n.*921G>C) c.1140G>C (p.Met380Ile) | |
| 1 | g.7663699G>T | CA338125507 | CAMTA1 | c.1152G>T (p.Met384Ile) c.*1003G>T (n.*1003G>T) c.1062G>T (p.Met354Ile) c.1080G>T (p.Met360Ile) c.*921G>T (n.*921G>T) c.1140G>T (p.Met380Ile) | |
| 1 | g.7663700G>A | CA338125543 | CAMTA1 | c.1153G>A (p.Ala385Thr) c.*1004G>A (n.*1004G>A) c.1063G>A (p.Ala355Thr) c.1081G>A (p.Ala361Thr) c.*922G>A (n.*922G>A) c.1141G>A (p.Ala381Thr) | gnomAD v4 |
| 1 | g.7663700G>C | CA338125568 | CAMTA1 | c.1153G>C (p.Ala385Pro) c.*1004G>C (n.*1004G>C) c.1063G>C (p.Ala355Pro) c.1081G>C (p.Ala361Pro) c.*922G>C (n.*922G>C) c.1141G>C (p.Ala381Pro) | gnomAD v4 |
| 1 | g.7663700G>T | CA338125563 | CAMTA1 | c.1153G>T (p.Ala385Ser) c.*1004G>T (n.*1004G>T) c.1063G>T (p.Ala355Ser) c.1081G>T (p.Ala361Ser) c.*922G>T (n.*922G>T) c.1141G>T (p.Ala381Ser) | |
| 1 | g.7663701C>A | CA338125573 | CAMTA1 | c.1154C>A (p.Ala385Glu) c.*1005C>A (n.*1005C>A) c.1064C>A (p.Ala355Glu) c.1082C>A (p.Ala361Glu) c.*923C>A (n.*923C>A) c.1142C>A (p.Ala381Glu) | ClinVar |
| 1 | g.7663701C= | CA1152023704 | CAMTA1 | c.1154C= (p.Ala385=) c.*1005C= (n.*1005C=) c.1064C= (p.Ala355=) c.1082C= (p.Ala361=) c.*923C= (n.*923C=) c.1142C= (p.Ala381=) | |
| 1 | g.7663701C>G | CA338125577 | CAMTA1 | c.1154C>G (p.Ala385Gly) c.*1005C>G (n.*1005C>G) c.1064C>G (p.Ala355Gly) c.1082C>G (p.Ala361Gly) c.*923C>G (n.*923C>G) c.1142C>G (p.Ala381Gly) | |
| 1 | g.7663701C>T | CA566381 | CAMTA1 | c.1154C>T (p.Ala385Val) c.*1005C>T (n.*1005C>T) c.1064C>T (p.Ala355Val) c.1082C>T (p.Ala361Val) c.*923C>T (n.*923C>T) c.1142C>T (p.Ala381Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.7663702G>A | CA566382 | CAMTA1 | c.1155G>A (p.Ala385=) c.*1006G>A (n.*1006G>A) c.1065G>A (p.Ala355=) c.1083G>A (p.Ala361=) c.*924G>A (n.*924G>A) c.1143G>A (p.Ala381=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.7663702G>C | CA416026552 | CAMTA1 | c.1155G>C (p.Ala385=) c.*1006G>C (n.*1006G>C) c.1065G>C (p.Ala355=) c.1083G>C (p.Ala361=) c.*924G>C (n.*924G>C) c.1143G>C (p.Ala381=) | |
| 1 | g.7663702G= | CA1143823222 | CAMTA1 | c.1155G= (p.Ala385=) c.*1006G= (n.*1006G=) c.1065G= (p.Ala355=) c.1083G= (p.Ala361=) c.*924G= (n.*924G=) c.1143G= (p.Ala381=) | |
| 1 | g.7663702G>T | CA416026554 | CAMTA1 | c.1155G>T (p.Ala385=) c.*1006G>T (n.*1006G>T) c.1065G>T (p.Ala355=) c.1083G>T (p.Ala361=) c.*924G>T (n.*924G>T) c.1143G>T (p.Ala381=) | |
| 1 | g.7663703del | CA2580062553 | CAMTA1 | c.1156del (p.Val386TrpfsTer4) c.*1007del (n.*1007del) c.1066del (p.Val356TrpfsTer4) c.1084del (p.Val362TrpfsTer4) c.*925del (n.*925del) c.1144del (p.Val382TrpfsTer4) | ClinVar dbSNP |
| 1 | g.7663704_7663706del | CA2643031706 | CAMTA1 | c.1157_1159del (p.Val386del) c.*1008_*1010del (n.*1008_*1010del) c.1067_1069del (p.Val356del) c.1085_1087del (p.Val362del) c.*926_*928del (n.*926_*928del) c.1145_1147del (p.Val382del) | gnomAD v4 |
| 1 | g.7663703G>A | CA338125583 | CAMTA1 | c.1156G>A (p.Val386Met) c.*1007G>A (n.*1007G>A) c.1066G>A (p.Val356Met) c.1084G>A (p.Val362Met) c.*925G>A (n.*925G>A) c.1144G>A (p.Val382Met) | gnomAD v4 |
| 1 | g.7663703G>C | CA338125587 | CAMTA1 | c.1156G>C (p.Val386Leu) c.*1007G>C (n.*1007G>C) c.1066G>C (p.Val356Leu) c.1084G>C (p.Val362Leu) c.*925G>C (n.*925G>C) c.1144G>C (p.Val382Leu) | |
| 1 | g.7663703G>T | CA338125591 | CAMTA1 | c.1156G>T (p.Val386Leu) c.*1007G>T (n.*1007G>T) c.1066G>T (p.Val356Leu) c.1084G>T (p.Val362Leu) c.*925G>T (n.*925G>T) c.1144G>T (p.Val382Leu) | |
| 1 | g.7663704T>A | CA338125595 | CAMTA1 | c.1157T>A (p.Val386Glu) c.*1008T>A (n.*1008T>A) c.1067T>A (p.Val356Glu) c.1085T>A (p.Val362Glu) c.*926T>A (n.*926T>A) c.1145T>A (p.Val382Glu) | |
| 1 | g.7663704T>C | CA338125600 | CAMTA1 | c.1157T>C (p.Val386Ala) c.*1008T>C (n.*1008T>C) c.1067T>C (p.Val356Ala) c.1085T>C (p.Val362Ala) c.*926T>C (n.*926T>C) c.1145T>C (p.Val382Ala) | |
| 1 | g.7663704T>G | CA566383 | CAMTA1 | c.1157T>G (p.Val386Gly) c.*1008T>G (n.*1008T>G) c.1067T>G (p.Val356Gly) c.1085T>G (p.Val362Gly) c.*926T>G (n.*926T>G) c.1145T>G (p.Val382Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.7663704T= | CA1152023705 | CAMTA1 | c.1157T= (p.Val386=) c.*1008T= (n.*1008T=) c.1067T= (p.Val356=) c.1085T= (p.Val362=) c.*926T= (n.*926T=) c.1145T= (p.Val382=) | |
| 1 | g.7663705G>A | CA416026558 | CAMTA1 | c.1158G>A (p.Val386=) c.*1009G>A (n.*1009G>A) c.1068G>A (p.Val356=) c.1086G>A (p.Val362=) c.*927G>A (n.*927G>A) c.1146G>A (p.Val382=) | |
| 1 | g.7663705G>C | CA416026559 | CAMTA1 | c.1158G>C (p.Val386=) c.*1009G>C (n.*1009G>C) c.1068G>C (p.Val356=) c.1086G>C (p.Val362=) c.*927G>C (n.*927G>C) c.1146G>C (p.Val382=) | |
| 1 | g.7663705G>T | CA416026560 | CAMTA1 | c.1158G>T (p.Val386=) c.*1009G>T (n.*1009G>T) c.1068G>T (p.Val356=) c.1086G>T (p.Val362=) c.*927G>T (n.*927G>T) c.1146G>T (p.Val382=) | |
| 1 | g.7663706G>A | CA566385 | CAMTA1 | c.1159G>A (p.Ala387Thr) c.*1010G>A (n.*1010G>A) c.1069G>A (p.Ala357Thr) c.1087G>A (p.Ala363Thr) c.*928G>A (n.*928G>A) c.1147G>A (p.Ala383Thr) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 1 | g.7663706G>C | CA338125611 | CAMTA1 | c.1159G>C (p.Ala387Pro) c.*1010G>C (n.*1010G>C) c.1069G>C (p.Ala357Pro) c.1087G>C (p.Ala363Pro) c.*928G>C (n.*928G>C) c.1147G>C (p.Ala383Pro) | |
| 1 | g.7663706G= | CA1143369225 | CAMTA1 | c.1159G= (p.Ala387=) c.*1010G= (n.*1010G=) c.1069G= (p.Ala357=) c.1087G= (p.Ala363=) c.*928G= (n.*928G=) c.1147G= (p.Ala383=) | |
| 1 | g.7663706G>T | CA338125614 | CAMTA1 | c.1159G>T (p.Ala387Ser) c.*1010G>T (n.*1010G>T) c.1069G>T (p.Ala357Ser) c.1087G>T (p.Ala363Ser) c.*928G>T (n.*928G>T) c.1147G>T (p.Ala383Ser) | |
| 1 | g.7663706_7663716delinsGCCTCTGTGAT | CA1152023706 | CAMTA1 | c.1159_1169delinsGCCTCTGTGAT (p.Ala387=) c.*1010_*1020delinsGCCTCTGTGAT (n.*1010_*1020delinsGCCTCTGTGAT) c.1069_1079delinsGCCTCTGTGAT (p.Ala357=) c.1087_1097delinsGCCTCTGTGAT (p.Ala363=) c.*928_*938delinsGCCTCTGTGAT (n.*928_*938delinsGCCTCTGTGAT) c.1147_1157delinsGCCTCTGTGAT (p.Ala383=) | |
| 1 | g.7663707C>A | CA338125623 | CAMTA1 | c.1160C>A (p.Ala387Asp) c.*1011C>A (n.*1011C>A) c.1070C>A (p.Ala357Asp) c.1088C>A (p.Ala363Asp) c.*929C>A (n.*929C>A) c.1148C>A (p.Ala383Asp) | |
| 1 | g.7663707C= | CA1149112538 | CAMTA1 | c.1160C= (p.Ala387=) c.*1011C= (n.*1011C=) c.1070C= (p.Ala357=) c.1088C= (p.Ala363=) c.*929C= (n.*929C=) c.1148C= (p.Ala383=) | |
| 1 | g.7663707C>G | CA566386 | CAMTA1 | c.1160C>G (p.Ala387Gly) c.*1011C>G (n.*1011C>G) c.1070C>G (p.Ala357Gly) c.1088C>G (p.Ala363Gly) c.*929C>G (n.*929C>G) c.1148C>G (p.Ala383Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.7663707C>T | CA338125621 | CAMTA1 | c.1160C>T (p.Ala387Val) c.*1011C>T (n.*1011C>T) c.1070C>T (p.Ala357Val) c.1088C>T (p.Ala363Val) c.*929C>T (n.*929C>T) c.1148C>T (p.Ala383Val) | gnomAD v4 |
| 1 | g.7663707_7663716del | CA566384 | CAMTA1 | c.1160_1169del (p.Ala387GlyfsTer?) c.*1011_*1020del (n.*1011_*1020del) c.1070_1079del (p.Ala357GlyfsTer?) c.1088_1097del (p.Ala363GlyfsTer?) c.*929_*938del (n.*929_*938del) c.1148_1157del (p.Ala383GlyfsTer?) | dbSNP ExAC gnomAD v2 |
| 1 | g.7663708C>A | CA416026567 | CAMTA1 | c.1161C>A (p.Ala387=) c.*1012C>A (n.*1012C>A) c.1071C>A (p.Ala357=) c.1089C>A (p.Ala363=) c.*930C>A (n.*930C>A) c.1149C>A (p.Ala383=) | |
| 1 | g.7663708C= | CA1152023707 | CAMTA1 | c.1161C= (p.Ala387=) c.*1012C= (n.*1012C=) c.1071C= (p.Ala357=) c.1089C= (p.Ala363=) c.*930C= (n.*930C=) c.1149C= (p.Ala383=) | |
| 1 | g.7663708C>G | CA416026568 | CAMTA1 | c.1161C>G (p.Ala387=) c.*1012C>G (n.*1012C>G) c.1071C>G (p.Ala357=) c.1089C>G (p.Ala363=) c.*930C>G (n.*930C>G) c.1149C>G (p.Ala383=) | |
| 1 | g.7663708C>T | CA566387 | CAMTA1 | c.1161C>T (p.Ala387=) c.*1012C>T (n.*1012C>T) c.1071C>T (p.Ala357=) c.1089C>T (p.Ala363=) c.*930C>T (n.*930C>T) c.1149C>T (p.Ala383=) | dbSNP ExAC gnomAD v2 |
| 1 | g.7663709T>A | CA338125626 | CAMTA1 | c.1162T>A (p.Ser388Thr) c.*1013T>A (n.*1013T>A) c.1072T>A (p.Ser358Thr) c.1090T>A (p.Ser364Thr) c.*931T>A (n.*931T>A) c.1150T>A (p.Ser384Thr) | |
| 1 | g.7663709T>C | CA338125629 | CAMTA1 | c.1162T>C (p.Ser388Pro) c.*1013T>C (n.*1013T>C) c.1072T>C (p.Ser358Pro) c.1090T>C (p.Ser364Pro) c.*931T>C (n.*931T>C) c.1150T>C (p.Ser384Pro) | |
| 1 | g.7663709T>G | CA338125633 | CAMTA1 | c.1162T>G (p.Ser388Ala) c.*1013T>G (n.*1013T>G) c.1072T>G (p.Ser358Ala) c.1090T>G (p.Ser364Ala) c.*931T>G (n.*931T>G) c.1150T>G (p.Ser384Ala) | |
| 1 | g.7663710C>A | CA338125647 | CAMTA1 | c.1163C>A (p.Ser388Tyr) c.*1014C>A (n.*1014C>A) c.1073C>A (p.Ser358Tyr) c.1091C>A (p.Ser364Tyr) c.*932C>A (n.*932C>A) c.1151C>A (p.Ser384Tyr) | |
| 1 | g.7663710C>G | CA338125651 | CAMTA1 | c.1163C>G (p.Ser388Cys) c.*1014C>G (n.*1014C>G) c.1073C>G (p.Ser358Cys) c.1091C>G (p.Ser364Cys) c.*932C>G (n.*932C>G) c.1151C>G (p.Ser384Cys) | |
| 1 | g.7663710C>T | CA338125659 | CAMTA1 | c.1163C>T (p.Ser388Phe) c.*1014C>T (n.*1014C>T) c.1073C>T (p.Ser358Phe) c.1091C>T (p.Ser364Phe) c.*932C>T (n.*932C>T) c.1151C>T (p.Ser384Phe) | |
| 1 | g.7663711T>A | CA416026571 | CAMTA1 | c.1164T>A (p.Ser388=) c.*1015T>A (n.*1015T>A) c.1074T>A (p.Ser358=) c.1092T>A (p.Ser364=) c.*933T>A (n.*933T>A) c.1152T>A (p.Ser384=) | |
| 1 | g.7663711T>C | CA416026572 | CAMTA1 | c.1164T>C (p.Ser388=) c.*1015T>C (n.*1015T>C) c.1074T>C (p.Ser358=) c.1092T>C (p.Ser364=) c.*933T>C (n.*933T>C) c.1152T>C (p.Ser384=) | gnomAD v3 gnomAD v4 |
| 1 | g.7663711T>G | CA416026574 | CAMTA1 | c.1164T>G (p.Ser388=) c.*1015T>G (n.*1015T>G) c.1074T>G (p.Ser358=) c.1092T>G (p.Ser364=) c.*933T>G (n.*933T>G) c.1152T>G (p.Ser384=) | |
| 1 | g.7663712G>A | CA338125669 | CAMTA1 | c.1165G>A (p.Val389Met) c.*1016G>A (n.*1016G>A) c.1075G>A (p.Val359Met) c.1093G>A (p.Val365Met) c.*934G>A (n.*934G>A) c.1153G>A (p.Val385Met) | |
| 1 | g.7663712G>C | CA338125673 | CAMTA1 | c.1165G>C (p.Val389Leu) c.*1016G>C (n.*1016G>C) c.1075G>C (p.Val359Leu) c.1093G>C (p.Val365Leu) c.*934G>C (n.*934G>C) c.1153G>C (p.Val385Leu) | |
| 1 | g.7663712G= | CA1152023708 | CAMTA1 | c.1165G= (p.Val389=) c.*1016G= (n.*1016G=) c.1075G= (p.Val359=) c.1093G= (p.Val365=) c.*934G= (n.*934G=) c.1153G= (p.Val385=) | |
| 1 | g.7663712G>T | CA566388 | CAMTA1 | c.1165G>T (p.Val389Leu) c.*1016G>T (n.*1016G>T) c.1075G>T (p.Val359Leu) c.1093G>T (p.Val365Leu) c.*934G>T (n.*934G>T) c.1153G>T (p.Val385Leu) | dbSNP ExAC |
| 1 | g.7663712_7663716delinsGTGAT | CA1152023709 | CAMTA1 | c.1165_1169delinsGTGAT (p.Val389=) c.*1016_*1020delinsGTGAT (n.*1016_*1020delinsGTGAT) c.1075_1079delinsGTGAT (p.Val359=) c.1093_1097delinsGTGAT (p.Val365=) c.*934_*938delinsGTGAT (n.*934_*938delinsGTGAT) c.1153_1157delinsGTGAT (p.Val385=) | |
| 1 | g.7663713T>A | CA338125701 | CAMTA1 | c.1166T>A (p.Val389Glu) c.*1017T>A (n.*1017T>A) c.1076T>A (p.Val359Glu) c.1094T>A (p.Val365Glu) c.*935T>A (n.*935T>A) c.1154T>A (p.Val385Glu) | |
| 1 | g.7663713T>C | CA338125705 | CAMTA1 | c.1166T>C (p.Val389Ala) c.*1017T>C (n.*1017T>C) c.1076T>C (p.Val359Ala) c.1094T>C (p.Val365Ala) c.*935T>C (n.*935T>C) c.1154T>C (p.Val385Ala) | |
| 1 | g.7663713T>G | CA338125704 | CAMTA1 | c.1166T>G (p.Val389Gly) c.*1017T>G (n.*1017T>G) c.1076T>G (p.Val359Gly) c.1094T>G (p.Val365Gly) c.*935T>G (n.*935T>G) c.1154T>G (p.Val385Gly) | |
| 1 | g.7663713_7663716del | CA916101776 | CAMTA1 | c.1166_1169del (p.Val389GlyfsTer?) c.*1017_*1020del (n.*1017_*1020del) c.1076_1079del (p.Val359GlyfsTer?) c.1094_1097del (p.Val365GlyfsTer?) c.*935_*938del (n.*935_*938del) c.1154_1157del (p.Val385GlyfsTer?) | dbSNP |
| 1 | g.7663714G>A | CA416026581 | CAMTA1 | c.1167G>A (p.Val389=) c.*1018G>A (n.*1018G>A) c.1077G>A (p.Val359=) c.1095G>A (p.Val365=) c.*936G>A (n.*936G>A) c.1155G>A (p.Val385=) | |
| 1 | g.7663714G>C | CA416026582 | CAMTA1 | c.1167G>C (p.Val389=) c.*1018G>C (n.*1018G>C) c.1077G>C (p.Val359=) c.1095G>C (p.Val365=) c.*936G>C (n.*936G>C) c.1155G>C (p.Val385=) | |
| 1 | g.7663714G>T | CA416026580 | CAMTA1 | c.1167G>T (p.Val389=) c.*1018G>T (n.*1018G>T) c.1077G>T (p.Val359=) c.1095G>T (p.Val365=) c.*936G>T (n.*936G>T) c.1155G>T (p.Val385=) | |
| 1 | g.7663715A>C | CA338125706 | CAMTA1 | c.1168A>C (p.Met390Leu) c.*1019A>C (n.*1019A>C) c.1078A>C (p.Met360Leu) c.1096A>C (p.Met366Leu) c.*937A>C (n.*937A>C) c.1156A>C (p.Met386Leu) | |
| 1 | g.7663715A>G | CA338125707 | CAMTA1 | c.1168A>G (p.Met390Val) c.*1019A>G (n.*1019A>G) c.1078A>G (p.Met360Val) c.1096A>G (p.Met366Val) c.*937A>G (n.*937A>G) c.1156A>G (p.Met386Val) | |
| 1 | g.7663715A>T | CA338125708 | CAMTA1 | c.1168A>T (p.Met390Leu) c.*1019A>T (n.*1019A>T) c.1078A>T (p.Met360Leu) c.1096A>T (p.Met366Leu) c.*937A>T (n.*937A>T) c.1156A>T (p.Met386Leu) |