Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.66871069C>A | CA312918 | PC | c.616G>T (p.Val206Leu) n.290-21004G>T c.496G>T (p.Val166Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.66871069C= | CA1979904620 | PC | c.616G= (p.Val206=) n.290-21004G= c.496G= (p.Val166=) | |
11 | g.66871069C>G | CA381502042 | PC | c.616G>C (p.Val206Leu) n.290-21004G>C c.496G>C (p.Val166Leu) | |
11 | g.66871069C>T | CA381502043 | PC | c.616G>A (p.Val206Met) n.290-21004G>A c.496G>A (p.Val166Met) | |
11 | g.66871070C>A | CA381502044 | PC | c.615G>T (p.Arg205Ser) n.290-21005G>T c.495G>T (p.Arg165Ser) | |
11 | g.66871070C>G | CA381502045 | PC | c.615G>C (p.Arg205Ser) n.290-21005G>C c.495G>C (p.Arg165Ser) | |
11 | g.66871070C>T | CA475502469 | PC | c.615G>A (p.Arg205=) n.290-21005G>A c.495G>A (p.Arg165=) | ClinVar dbSNP |
11 | g.66871071C>A | CA381502046 | PC | c.614G>T (p.Arg205Met) n.290-21006G>T c.494G>T (p.Arg165Met) | |
11 | g.66871071C>G | CA381502048 | PC | c.614G>C (p.Arg205Thr) n.290-21006G>C c.494G>C (p.Arg165Thr) | |
11 | g.66871071C>T | CA381502047 | PC | c.614G>A (p.Arg205Lys) n.290-21006G>A c.494G>A (p.Arg165Lys) | gnomAD v4 |
11 | g.66871072T>A | CA381502049 | PC | c.613A>T (p.Arg205Trp) n.290-21007A>T c.493A>T (p.Arg165Trp) | |
11 | g.66871072T>C | CA381502050 | PC | c.613A>G (p.Arg205Gly) n.290-21007A>G c.493A>G (p.Arg165Gly) | |
11 | g.66871072T>G | CA475502470 | PC | c.613A>C (p.Arg205=) n.290-21007A>C c.493A>C (p.Arg165=) | |
11 | g.66871073C>A | CA6132178 | PC | c.612G>T (p.Met204Ile) n.290-21008G>T c.492G>T (p.Met164Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.66871073C= | CA1979904626 | PC | c.612G= (p.Met204=) n.290-21008G= c.492G= (p.Met164=) | |
11 | g.66871073C>G | CA381502051 | PC | c.612G>C (p.Met204Ile) n.290-21008G>C c.492G>C (p.Met164Ile) | |
11 | g.66871073C>T | CA381502052 | PC | c.612G>A (p.Met204Ile) n.290-21008G>A c.492G>A (p.Met164Ile) | |
11 | g.66871076_66871095del | CA2739270604 | PC | c.593_612del (p.Gly198GlufsTer?) n.290-21027_290-21008del c.473_492del (p.Gly158GlufsTer?) | ClinVar |
11 | g.66871074A>C | CA381502053 | PC | c.611T>G (p.Met204Arg) n.290-21009T>G c.491T>G (p.Met164Arg) | |
11 | g.66871074A>G | CA381502054 | PC | c.611T>C (p.Met204Thr) n.290-21009T>C c.491T>C (p.Met164Thr) | |
11 | g.66871074A>T | CA381502055 | PC | c.611T>A (p.Met204Lys) n.290-21009T>A c.491T>A (p.Met164Lys) | |
11 | g.66871075T>A | CA381502056 | PC | c.610A>T (p.Met204Leu) n.290-21010A>T c.490A>T (p.Met164Leu) | |
11 | g.66871075T>C | CA381502057 | PC | c.610A>G (p.Met204Val) n.290-21010A>G c.490A>G (p.Met164Val) | dbSNP gnomAD v4 |
11 | g.66871075T>G | CA381502058 | PC | c.610A>C (p.Met204Leu) n.290-21010A>C c.490A>C (p.Met164Leu) | ClinVar |
11 | g.66871075T= | CA1979904634 | PC | c.610A= (p.Met204=) n.290-21010A= c.490A= (p.Met164=) | |
11 | g.66871076G>A | CA475502473 | PC | c.609C>T (p.Gly203=) n.290-21011C>T c.489C>T (p.Gly163=) | |
11 | g.66871076G>C | CA475502476 | PC | c.609C>G (p.Gly203=) n.290-21011C>G c.489C>G (p.Gly163=) | |
11 | g.66871076G>T | CA475502478 | PC | c.609C>A (p.Gly203=) n.290-21011C>A c.489C>A (p.Gly163=) | |
11 | g.66871077C>A | CA381502061 | PC | c.608G>T (p.Gly203Val) n.290-21012G>T c.488G>T (p.Gly163Val) | |
11 | g.66871077C>G | CA381502060 | PC | c.608G>C (p.Gly203Ala) n.290-21012G>C c.488G>C (p.Gly163Ala) | |
11 | g.66871077C>T | CA381502059 | PC | c.608G>A (p.Gly203Asp) n.290-21012G>A c.488G>A (p.Gly163Asp) | |
11 | g.66871078C>A | CA381502062 | PC | c.607G>T (p.Gly203Cys) n.290-21013G>T c.487G>T (p.Gly163Cys) | |
11 | g.66871078C>G | CA381502063 | PC | c.607G>C (p.Gly203Arg) n.290-21013G>C c.487G>C (p.Gly163Arg) | |
11 | g.66871078C>T | CA381502064 | PC | c.607G>A (p.Gly203Ser) n.290-21013G>A c.487G>A (p.Gly163Ser) | |
11 | g.66871079A>C | CA475502479 | PC | c.606T>G (p.Arg202=) n.290-21014T>G c.486T>G (p.Arg162=) | |
11 | g.66871079A>G | CA475502481 | PC | c.606T>C (p.Arg202=) n.290-21014T>C c.486T>C (p.Arg162=) | |
11 | g.66871079A>T | CA475502483 | PC | c.606T>A (p.Arg202=) n.290-21014T>A c.486T>A (p.Arg162=) | |
11 | g.66871079_66871088delinsTT | CA2580084586 | PC | c.597_606delinsAA (p.Gly200ArgfsTer?) n.290-21023_290-21014delinsAA c.477_486delinsAA (p.Gly160ArgfsTer?) | ClinVar |
11 | g.66871080C>A | CA381502065 | PC | c.605G>T (p.Arg202Leu) n.290-21015G>T c.485G>T (p.Arg162Leu) | |
11 | g.66871080C= | CA1979904640 | PC | c.605G= (p.Arg202=) n.290-21015G= c.485G= (p.Arg162=) | |
11 | g.66871080C>G | CA381502066 | PC | c.605G>C (p.Arg202Pro) n.290-21015G>C c.485G>C (p.Arg162Pro) | |
11 | g.66871080C>T | CA381502067 | PC | c.605G>A (p.Arg202His) n.290-21015G>A c.485G>A (p.Arg162His) | dbSNP gnomAD v4 COSMIC COSMIC |
11 | g.66871081G>A | CA6132179 | PC | c.604C>T (p.Arg202Cys) n.290-21016C>T c.484C>T (p.Arg162Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.66871081G>C | CA381502069 | PC | c.604C>G (p.Arg202Gly) n.290-21016C>G c.484C>G (p.Arg162Gly) | |
11 | g.66871081G= | CA1979904645 | PC | c.604C= (p.Arg202=) n.290-21016C= c.484C= (p.Arg162=) | |
11 | g.66871081G>T | CA381502068 | PC | c.604C>A (p.Arg202Ser) n.290-21016C>A c.484C>A (p.Arg162Ser) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.66871082C>A | CA475502489 | PC | c.603G>T (p.Gly201=) n.290-21017G>T c.483G>T (p.Gly161=) | |
11 | g.66871082C>G | CA475502486 | PC | c.603G>C (p.Gly201=) n.290-21017G>C c.483G>C (p.Gly161=) | |
11 | g.66871082C>T | CA475502488 | PC | c.603G>A (p.Gly201=) n.290-21017G>A c.483G>A (p.Gly161=) | |
11 | g.66871083C>A | CA381502070 | PC | c.602G>T (p.Gly201Val) n.290-21018G>T c.482G>T (p.Gly161Val) | |
11 | g.66871083C>G | CA381502071 | PC | c.602G>C (p.Gly201Ala) n.290-21018G>C c.482G>C (p.Gly161Ala) | |
11 | g.66871083C>T | CA381502072 | PC | c.602G>A (p.Gly201Glu) n.290-21018G>A c.482G>A (p.Gly161Glu) | |
11 | g.66871084C>A | CA381502073 | PC | c.601G>T (p.Gly201Trp) n.290-21019G>T c.481G>T (p.Gly161Trp) | |
11 | g.66871084C>G | CA381502074 | PC | c.601G>C (p.Gly201Arg) n.290-21019G>C c.481G>C (p.Gly161Arg) | |
11 | g.66871084C>T | CA381502075 | PC | c.601G>A (p.Gly201Arg) n.290-21019G>A c.481G>A (p.Gly161Arg) | |
11 | g.66871085T>A | CA475502490 | PC | c.600A>T (p.Gly200=) n.290-21020A>T c.480A>T (p.Gly160=) | |
11 | g.66871085T>C | CA6132180 | PC | c.600A>G (p.Gly200=) n.290-21020A>G c.480A>G (p.Gly160=) | dbSNP ExAC |
11 | g.66871085T>G | CA475502492 | PC | c.600A>C (p.Gly200=) n.290-21020A>C c.480A>C (p.Gly160=) | ClinVar |
11 | g.66871085T= | CA1979904650 | PC | c.600A= (p.Gly200=) n.290-21020A= c.480A= (p.Gly160=) | |
11 | g.66871086C>A | CA381502076 | PC | c.599G>T (p.Gly200Val) n.290-21021G>T c.479G>T (p.Gly160Val) | |
11 | g.66871086C>G | CA381502078 | PC | c.599G>C (p.Gly200Ala) n.290-21021G>C c.479G>C (p.Gly160Ala) | |
11 | g.66871086C>T | CA381502077 | PC | c.599G>A (p.Gly200Glu) n.290-21021G>A c.479G>A (p.Gly160Glu) | |
11 | g.66871087C>A | CA381502079 | PC | c.598G>T (p.Gly200Ter) n.290-21022G>T c.478G>T (p.Gly160Ter) | |
11 | g.66871087C>G | CA381502080 | PC | c.598G>C (p.Gly200Arg) n.290-21022G>C c.478G>C (p.Gly160Arg) | |
11 | g.66871087C>T | CA381502081 | PC | c.598G>A (p.Gly200Arg) n.290-21022G>A c.478G>A (p.Gly160Arg) | |
11 | g.66871088A= | CA1979904660 | PC | c.597T= (p.Gly199=) n.290-21023T= c.477T= (p.Gly159=) | |
11 | g.66871088A>C | CA475502497 | PC | c.597T>G (p.Gly199=) n.290-21023T>G c.477T>G (p.Gly159=) | dbSNP |
11 | g.66871088A>G | CA475502495 | PC | c.597T>C (p.Gly199=) n.290-21023T>C c.477T>C (p.Gly159=) | |
11 | g.66871088A>T | CA475502498 | PC | c.597T>A (p.Gly199=) n.290-21023T>A c.477T>A (p.Gly159=) | ClinVar dbSNP |
11 | g.66871089C>A | CA381502082 | PC | c.596G>T (p.Gly199Val) n.290-21024G>T c.476G>T (p.Gly159Val) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.66871089C= | CA1979904668 | PC | c.596G= (p.Gly199=) n.290-21024G= c.476G= (p.Gly159=) | |
11 | g.66871089C>G | CA381502083 | PC | c.596G>C (p.Gly199Ala) n.290-21024G>C c.476G>C (p.Gly159Ala) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.66871089C>T | CA381502084 | PC | c.596G>A (p.Gly199Asp) n.290-21024G>A c.476G>A (p.Gly159Asp) | |
11 | g.66871093dup | CA645580236 | PC | c.596dup (p.Gly200TrpfsTer?) n.290-21024dup c.476dup (p.Gly160TrpfsTer?) | COSMIC COSMIC |
11 | g.66871090C>A | CA381502085 | PC | c.595G>T (p.Gly199Cys) n.290-21025G>T c.475G>T (p.Gly159Cys) | |
11 | g.66871090C>G | CA381502086 | PC | c.595G>C (p.Gly199Arg) n.290-21025G>C c.475G>C (p.Gly159Arg) | |
11 | g.66871090C>T | CA381502087 | PC | c.595G>A (p.Gly199Ser) n.290-21025G>A c.475G>A (p.Gly159Ser) | |
11 | g.66871091C>A | CA475502500 | PC | c.594G>T (p.Gly198=) n.290-21026G>T c.474G>T (p.Gly158=) | |
11 | g.66871091C= | CA1979904673 | PC | c.594G= (p.Gly198=) n.290-21026G= c.474G= (p.Gly158=) | |
11 | g.66871091C>G | CA475502502 | PC | c.594G>C (p.Gly198=) n.290-21026G>C c.474G>C (p.Gly158=) | |
11 | g.66871091C>T | CA475502504 | PC | c.594G>A (p.Gly198=) n.290-21026G>A c.474G>A (p.Gly158=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.66871092C>A | CA381502088 | PC | c.593G>T (p.Gly198Val) n.290-21027G>T c.473G>T (p.Gly158Val) | |
11 | g.66871092C>G | CA381502089 | PC | c.593G>C (p.Gly198Ala) n.290-21027G>C c.473G>C (p.Gly158Ala) | |
11 | g.66871092C>T | CA381502090 | PC | c.593G>A (p.Gly198Glu) n.290-21027G>A c.473G>A (p.Gly158Glu) | |
11 | g.66871093C>A | CA381502091 | PC | c.592G>T (p.Gly198Trp) n.290-21028G>T c.472G>T (p.Gly158Trp) | |
11 | g.66871093C>G | CA381502093 | PC | c.592G>C (p.Gly198Arg) n.290-21028G>C c.472G>C (p.Gly158Arg) | |
11 | g.66871093C>T | CA381502092 | PC | c.592G>A (p.Gly198Arg) n.290-21028G>A c.472G>A (p.Gly158Arg) | |
11 | g.66871094A>C | CA381502094 | PC | c.591T>G (p.Tyr197Ter) n.290-21029T>G c.471T>G (p.Tyr157Ter) | |
11 | g.66871094A>G | CA475502509 | PC | c.591T>C (p.Tyr197=) n.290-21029T>C c.471T>C (p.Tyr157=) | |
11 | g.66871094A>T | CA381502095 | PC | c.591T>A (p.Tyr197Ter) n.290-21029T>A c.471T>A (p.Tyr157Ter) | |
11 | g.66871095T>A | CA381502096 | PC | c.590A>T (p.Tyr197Phe) n.290-21030A>T c.470A>T (p.Tyr157Phe) | |
11 | g.66871095T>C | CA224094891 | PC | c.590A>G (p.Tyr197Cys) n.290-21030A>G c.470A>G (p.Tyr157Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.66871095T>G | CA381502097 | PC | c.590A>C (p.Tyr197Ser) n.290-21030A>C c.470A>C (p.Tyr157Ser) | |
11 | g.66871095T= | CA1979904681 | PC | c.590A= (p.Tyr197=) n.290-21030A= c.470A= (p.Tyr157=) | |
11 | g.66871096A>C | CA381502098 | PC | c.589T>G (p.Tyr197Asp) n.290-21031T>G c.469T>G (p.Tyr157Asp) | |
11 | g.66871096A>G | CA381502099 | PC | c.589T>C (p.Tyr197His) n.290-21031T>C c.469T>C (p.Tyr157His) | |
11 | g.66871096A>T | CA381502100 | PC | c.589T>A (p.Tyr197Asn) n.290-21031T>A c.469T>A (p.Tyr157Asn) | |
11 | g.66871097G>A | CA475502511 | PC | c.588C>T (p.Ala196=) n.290-21032C>T c.468C>T (p.Ala156=) | |
11 | g.66871097G>C | CA475502512 | PC | c.588C>G (p.Ala196=) n.290-21032C>G c.468C>G (p.Ala156=) | |
11 | g.66871097G>T | CA475502513 | PC | c.588C>A (p.Ala196=) n.290-21032C>A c.468C>A (p.Ala156=) | |
11 | g.66871098G>A | CA381502101 | PC | c.587C>T (p.Ala196Val) n.290-21033C>T c.467C>T (p.Ala156Val) | |
11 | g.66871098G>C | CA381502102 | PC | c.587C>G (p.Ala196Gly) n.290-21033C>G c.467C>G (p.Ala156Gly) | |
11 | g.66871098G>T | CA381502103 | PC | c.587C>A (p.Ala196Asp) n.290-21033C>A c.467C>A (p.Ala156Asp) | |
11 | g.66871099C>A | CA381502104 | PC | c.586G>T (p.Ala196Ser) n.290-21034G>T c.466G>T (p.Ala156Ser) | |
11 | g.66871099C= | CA1979904686 | PC | c.586G= (p.Ala196=) n.290-21034G= c.466G= (p.Ala156=) | |
11 | g.66871099C>G | CA381502105 | PC | c.586G>C (p.Ala196Pro) n.290-21034G>C c.466G>C (p.Ala156Pro) | |
11 | g.66871099C>T | CA381502106 | PC | c.586G>A (p.Ala196Thr) n.290-21034G>A c.466G>A (p.Ala156Thr) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.66871100C>A | CA6132182 | PC | c.585G>T (p.Ala195=) n.290-21035G>T c.465G>T (p.Ala155=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.66871100C= | CA1979904689 | PC | c.585G= (p.Ala195=) n.290-21035G= c.465G= (p.Ala155=) | |
11 | g.66871100C>G | CA475502516 | PC | c.585G>C (p.Ala195=) n.290-21035G>C c.465G>C (p.Ala155=) | ClinVar dbSNP |
11 | g.66871100C>T | CA6132181 | PC | c.585G>A (p.Ala195=) n.290-21035G>A c.465G>A (p.Ala155=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.66871101G>A | CA381502107 | PC | c.584C>T (p.Ala195Val) n.290-21036C>T c.464C>T (p.Ala155Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
11 | g.66871101G>C | CA381502108 | PC | c.584C>G (p.Ala195Gly) n.290-21036C>G c.464C>G (p.Ala155Gly) | |
11 | g.66871101G= | CA1979904698 | PC | c.584C= (p.Ala195=) n.290-21036C= c.464C= (p.Ala155=) | |
11 | g.66871101G>T | CA381502109 | PC | c.584C>A (p.Ala195Glu) n.290-21036C>A c.464C>A (p.Ala155Glu) | |
11 | g.66871102C>A | CA381502110 | PC | c.583G>T (p.Ala195Ser) n.290-21037G>T c.463G>T (p.Ala155Ser) | |
11 | g.66871102C>G | CA381502111 | PC | c.583G>C (p.Ala195Pro) n.290-21037G>C c.463G>C (p.Ala155Pro) | |
11 | g.66871102C>T | CA381502112 | PC | c.583G>A (p.Ala195Thr) n.290-21037G>A c.463G>A (p.Ala155Thr) | |
11 | g.66871103C>A | CA381502113 | PC | c.582G>T (p.Lys194Asn) n.290-21038G>T c.462G>T (p.Lys154Asn) | |
11 | g.66871103C>G | CA381502114 | PC | c.582G>C (p.Lys194Asn) n.290-21038G>C c.462G>C (p.Lys154Asn) | |
11 | g.66871103C>T | CA475502518 | PC | c.582G>A (p.Lys194=) n.290-21038G>A c.462G>A (p.Lys154=) | |
11 | g.66871104T>A | CA381502115 | PC | c.581A>T (p.Lys194Met) n.290-21039A>T c.461A>T (p.Lys154Met) | |
11 | g.66871104T>C | CA381502116 | PC | c.581A>G (p.Lys194Arg) n.290-21039A>G c.461A>G (p.Lys154Arg) | |
11 | g.66871104T>G | CA381502117 | PC | c.581A>C (p.Lys194Thr) n.290-21039A>C c.461A>C (p.Lys154Thr) | |
11 | g.66871105T>A | CA381502120 | PC | c.580A>T (p.Lys194Ter) n.290-21040A>T c.460A>T (p.Lys154Ter) | |
11 | g.66871105T>C | CA381502119 | PC | c.580A>G (p.Lys194Glu) n.290-21040A>G c.460A>G (p.Lys154Glu) | |
11 | g.66871105T>G | CA381502118 | PC | c.580A>C (p.Lys194Gln) n.290-21040A>C c.460A>C (p.Lys154Gln) | |
11 | g.66871106G>A | CA475502520 | PC | c.579C>T (p.Phe193=) n.290-21041C>T c.459C>T (p.Phe153=) | |
11 | g.66871106G>C | CA381502121 | PC | c.579C>G (p.Phe193Leu) n.290-21041C>G c.459C>G (p.Phe153Leu) | |
11 | g.66871106G= | CA1979904706 | PC | c.579C= (p.Phe193=) n.290-21041C= c.459C= (p.Phe153=) | |
11 | g.66871106G>T | CA381502122 | PC | c.579C>A (p.Phe193Leu) n.290-21041C>A c.459C>A (p.Phe153Leu) | dbSNP gnomAD v4 |
11 | g.66871107A>C | CA381502123 | PC | c.578T>G (p.Phe193Cys) n.290-21042T>G c.458T>G (p.Phe153Cys) | gnomAD v4 |
11 | g.66871107A>G | CA381502125 | PC | c.578T>C (p.Phe193Ser) n.290-21042T>C c.458T>C (p.Phe153Ser) | |
11 | g.66871107A>T | CA381502124 | PC | c.578T>A (p.Phe193Tyr) n.290-21042T>A c.458T>A (p.Phe153Tyr) | |
11 | g.66871108A>C | CA381502126 | PC | c.577T>G (p.Phe193Val) n.290-21043T>G c.457T>G (p.Phe153Val) | |
11 | g.66871108A>G | CA381502128 | PC | c.577T>C (p.Phe193Leu) n.290-21043T>C c.457T>C (p.Phe153Leu) | |
11 | g.66871108A>T | CA381502127 | PC | c.577T>A (p.Phe193Ile) n.290-21043T>A c.457T>A (p.Phe153Ile) | |
11 | g.66871109G>A | CA475502524 | PC | c.576C>T (p.Ile192=) n.290-21044C>T c.456C>T (p.Ile152=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.66871109G>C | CA381502129 | PC | c.576C>G (p.Ile192Met) n.290-21044C>G c.456C>G (p.Ile152Met) | |
11 | g.66871109G= | CA1979904708 | PC | c.576C= (p.Ile192=) n.290-21044C= c.456C= (p.Ile152=) | |
11 | g.66871109G>T | CA6132183 | PC | c.576C>A (p.Ile192=) n.290-21044C>A c.456C>A (p.Ile152=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.66871110A>C | CA381502130 | PC | c.575T>G (p.Ile192Ser) n.290-21045T>G c.455T>G (p.Ile152Ser) | |
11 | g.66871110A>G | CA381502131 | PC | c.575T>C (p.Ile192Thr) n.290-21045T>C c.455T>C (p.Ile152Thr) | |
11 | g.66871110A>T | CA381502132 | PC | c.575T>A (p.Ile192Asn) n.290-21045T>A c.455T>A (p.Ile152Asn) | |
11 | g.66871111T>A | CA381502133 | PC | c.574A>T (p.Ile192Phe) n.290-21046A>T c.454A>T (p.Ile152Phe) | |
11 | g.66871111T>C | CA381502134 | PC | c.574A>G (p.Ile192Val) n.290-21046A>G c.454A>G (p.Ile152Val) | |
11 | g.66871111T>G | CA381502135 | PC | c.574A>C (p.Ile192Leu) n.290-21046A>C c.454A>C (p.Ile152Leu) | |
11 | g.66871112G>A | CA475502526 | PC | c.573C>T (p.Ile191=) n.290-21047C>T c.453C>T (p.Ile151=) | |
11 | g.66871112G>C | CA381502136 | PC | c.573C>G (p.Ile191Met) n.290-21047C>G c.453C>G (p.Ile151Met) | |
11 | g.66871112G>T | CA475502525 | PC | c.573C>A (p.Ile191=) n.290-21047C>A c.453C>A (p.Ile151=) | |
11 | g.66871113A>C | CA381502137 | PC | c.572T>G (p.Ile191Ser) n.290-21048T>G c.452T>G (p.Ile151Ser) | |
11 | g.66871113A>G | CA381502138 | PC | c.572T>C (p.Ile191Thr) n.290-21048T>C c.452T>C (p.Ile151Thr) | gnomAD v4 |
11 | g.66871113A>T | CA381502139 | PC | c.572T>A (p.Ile191Asn) n.290-21048T>A c.452T>A (p.Ile151Asn) | |
11 | g.66871114T>A | CA381502140 | PC | c.571A>T (p.Ile191Phe) n.290-21049A>T c.451A>T (p.Ile151Phe) | |
11 | g.66871114T>C | CA312884 | PC | c.571A>G (p.Ile191Val) n.290-21049A>G c.451A>G (p.Ile151Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.66871114T>G | CA381502141 | PC | c.571A>C (p.Ile191Leu) n.290-21049A>C c.451A>C (p.Ile151Leu) | dbSNP |
11 | g.66871114T= | CA1979904714 | PC | c.571A= (p.Ile191=) n.290-21049A= c.451A= (p.Ile151=) | |
11 | g.66871115G>A | CA475502528 | PC | c.570C>T (p.Pro190=) n.290-21050C>T c.450C>T (p.Pro150=) | ClinVar dbSNP gnomAD v4 |
11 | g.66871115G>C | CA475502530 | PC | c.570C>G (p.Pro190=) n.290-21050C>G c.450C>G (p.Pro150=) | |
11 | g.66871115G= | CA1979904720 | PC | c.570C= (p.Pro190=) n.290-21050C= c.450C= (p.Pro150=) | |
11 | g.66871115G>T | CA475502529 | PC | c.570C>A (p.Pro190=) n.290-21050C>A c.450C>A (p.Pro150=) | |
11 | g.66871116G>A | CA381502142 | PC | c.569C>T (p.Pro190Leu) n.290-21051C>T c.449C>T (p.Pro150Leu) | |
11 | g.66871116G>C | CA381502144 | PC | c.569C>G (p.Pro190Arg) n.290-21051C>G c.449C>G (p.Pro150Arg) | |
11 | g.66871116G>T | CA381502143 | PC | c.569C>A (p.Pro190His) n.290-21051C>A c.449C>A (p.Pro150His) | |
11 | g.66871117G>A | CA381502145 | PC | c.568C>T (p.Pro190Ser) n.290-21052C>T c.448C>T (p.Pro150Ser) | |
11 | g.66871117G>C | CA381502146 | PC | c.568C>G (p.Pro190Ala) n.290-21052C>G c.448C>G (p.Pro150Ala) | |
11 | g.66871117G>T | CA381502147 | PC | c.568C>A (p.Pro190Thr) n.290-21052C>A c.448C>A (p.Pro150Thr) | |
11 | g.66871118G>A | CA6132184 | PC | c.567C>T (p.Phe189=) n.290-21053C>T c.447C>T (p.Phe149=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.66871118G>C | CA381502148 | PC | c.567C>G (p.Phe189Leu) n.290-21053C>G c.447C>G (p.Phe149Leu) | |
11 | g.66871118G= | CA1979904726 | PC | c.567C= (p.Phe189=) n.290-21053C= c.447C= (p.Phe149=) | |
11 | g.66871118G>T | CA381502149 | PC | c.567C>A (p.Phe189Leu) n.290-21053C>A c.447C>A (p.Phe149Leu) | |
11 | g.66871119A>C | CA381502150 | PC | c.566T>G (p.Phe189Cys) n.290-21054T>G c.446T>G (p.Phe149Cys) | |
11 | g.66871119A>G | CA381502151 | PC | c.566T>C (p.Phe189Ser) n.290-21054T>C c.446T>C (p.Phe149Ser) | |
11 | g.66871119A>T | CA381502152 | PC | c.566T>A (p.Phe189Tyr) n.290-21054T>A c.446T>A (p.Phe149Tyr) | |
11 | g.66871120A>C | CA381502155 | PC | c.565T>G (p.Phe189Val) n.290-21055T>G c.445T>G (p.Phe149Val) | |
11 | g.66871120A>G | CA381502154 | PC | c.565T>C (p.Phe189Leu) n.290-21055T>C c.445T>C (p.Phe149Leu) | |
11 | g.66871120A>T | CA381502153 | PC | c.565T>A (p.Phe189Ile) n.290-21055T>A c.445T>A (p.Phe149Ile) | |
11 | g.66871121G>A | CA475502537 | PC | c.564C>T (p.Gly188=) n.290-21056C>T c.444C>T (p.Gly148=) | ClinVar |
11 | g.66871121G>C | CA475502538 | PC | c.564C>G (p.Gly188=) n.290-21056C>G c.444C>G (p.Gly148=) | |
11 | g.66871121G>T | CA475502539 | PC | c.564C>A (p.Gly188=) n.290-21056C>A c.444C>A (p.Gly148=) | |
11 | g.66871122C>A | CA381502156 | PC | c.563G>T (p.Gly188Val) n.290-21057G>T c.443G>T (p.Gly148Val) | ClinVar dbSNP |
11 | g.66871122C= | CA1979904742 | PC | c.563G= (p.Gly188=) n.290-21057G= c.443G= (p.Gly148=) | |
11 | g.66871122C>G | CA381502157 | PC | c.563G>C (p.Gly188Ala) n.290-21057G>C c.443G>C (p.Gly148Ala) | |
11 | g.66871122C>T | CA381502158 | PC | c.563G>A (p.Gly188Asp) n.290-21057G>A c.443G>A (p.Gly148Asp) | gnomAD v4 |
11 | g.66871123C>A | CA381502159 | PC | c.562G>T (p.Gly188Cys) n.290-21058G>T c.442G>T (p.Gly148Cys) | gnomAD v4 |
11 | g.66871123C= | CA1979904755 | PC | c.562G= (p.Gly188=) n.290-21058G= c.442G= (p.Gly148=) | |
11 | g.66871123C>G | CA381502160 | PC | c.562G>C (p.Gly188Arg) n.290-21058G>C c.442G>C (p.Gly148Arg) | |
11 | g.66871123C>T | CA6132185 | PC | c.562G>A (p.Gly188Ser) n.290-21058G>A c.442G>A (p.Gly148Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.66871124G>A | CA6132186 | PC | c.561C>T (p.Tyr187=) n.290-21059C>T c.441C>T (p.Tyr147=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.66871124G>C | CA381502161 | PC | c.561C>G (p.Tyr187Ter) n.290-21059C>G c.441C>G (p.Tyr147Ter) | |
11 | g.66871124G= | CA1979904757 | PC | c.561C= (p.Tyr187=) n.290-21059C= c.441C= (p.Tyr147=) | |
11 | g.66871124G>T | CA381502162 | PC | c.561C>A (p.Tyr187Ter) n.290-21059C>A c.441C>A (p.Tyr147Ter) | |
11 | g.66871125T>A | CA381502163 | PC | c.560A>T (p.Tyr187Phe) n.290-21060A>T c.440A>T (p.Tyr147Phe) | gnomAD v4 |
11 | g.66871125T>C | CA6132187 | PC | c.560A>G (p.Tyr187Cys) n.290-21060A>G c.440A>G (p.Tyr147Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.66871125T>G | CA381502164 | PC | c.560A>C (p.Tyr187Ser) n.290-21060A>C c.440A>C (p.Tyr147Ser) | |
11 | g.66871125T= | CA1979904766 | PC | c.560A= (p.Tyr187=) n.290-21060A= c.440A= (p.Tyr147=) | |
11 | g.66871126A>C | CA381502167 | PC | c.559T>G (p.Tyr187Asp) n.290-21061T>G c.439T>G (p.Tyr147Asp) | |
11 | g.66871126A>G | CA381502165 | PC | c.559T>C (p.Tyr187His) n.290-21061T>C c.439T>C (p.Tyr147His) | |
11 | g.66871126A>T | CA381502166 | PC | c.559T>A (p.Tyr187Asn) n.290-21061T>A c.439T>A (p.Tyr147Asn) | |
11 | g.66871127G>A | CA475502543 | PC | c.558C>T (p.Thr186=) n.290-21062C>T c.438C>T (p.Thr146=) | |
11 | g.66871127G>C | CA475502544 | PC | c.558C>G (p.Thr186=) n.290-21062C>G c.438C>G (p.Thr146=) | |
11 | g.66871127G>T | CA475502545 | PC | c.558C>A (p.Thr186=) n.290-21062C>A c.438C>A (p.Thr146=) | |
11 | g.66871128G>A | CA381502168 | PC | c.557C>T (p.Thr186Ile) n.290-21063C>T c.437C>T (p.Thr146Ile) | gnomAD v4 |
11 | g.66871128G>C | CA381502169 | PC | c.557C>G (p.Thr186Ser) n.290-21063C>G c.437C>G (p.Thr146Ser) | |
11 | g.66871128G>T | CA381502170 | PC | c.557C>A (p.Thr186Asn) n.290-21063C>A c.437C>A (p.Thr146Asn) | |
11 | g.66871129T>A | CA381502171 | PC | c.556A>T (p.Thr186Ser) n.290-21064A>T c.436A>T (p.Thr146Ser) | |
11 | g.66871129T>C | CA381502172 | PC | c.556A>G (p.Thr186Ala) n.290-21064A>G c.436A>G (p.Thr146Ala) | |
11 | g.66871129T>G | CA381502173 | PC | c.556A>C (p.Thr186Pro) n.290-21064A>C c.436A>C (p.Thr146Pro) | dbSNP |
11 | g.66871129T= | CA1979904791 | PC | c.556A= (p.Thr186=) n.290-21064A= c.436A= (p.Thr146=) | |
11 | g.66871130G>A | CA475502549 | PC | c.555C>T (p.Asn185=) n.290-21065C>T c.435C>T (p.Asn145=) | |
11 | g.66871130G>C | CA381502174 | PC | c.555C>G (p.Asn185Lys) n.290-21065C>G c.435C>G (p.Asn145Lys) | |
11 | g.66871130G>T | CA381502175 | PC | c.555C>A (p.Asn185Lys) n.290-21065C>A c.435C>A (p.Asn145Lys) | |
11 | g.66871131T>A | CA381502176 | PC | c.554A>T (p.Asn185Ile) n.290-21066A>T c.434A>T (p.Asn145Ile) | |
11 | g.66871131T>C | CA381502177 | PC | c.554A>G (p.Asn185Ser) n.290-21066A>G c.434A>G (p.Asn145Ser) | |
11 | g.66871131T>G | CA381502178 | PC | c.554A>C (p.Asn185Thr) n.290-21066A>C c.434A>C (p.Asn145Thr) | |
11 | g.66871132T>A | CA381502180 | PC | c.553A>T (p.Asn185Tyr) n.290-21067A>T c.433A>T (p.Asn145Tyr) | |
11 | g.66871132T>C | CA381502181 | PC | c.553A>G (p.Asn185Asp) n.290-21067A>G c.433A>G (p.Asn145Asp) | |
11 | g.66871132T>G | CA381502179 | PC | c.553A>C (p.Asn185His) n.290-21067A>C c.433A>C (p.Asn145His) | |
11 | g.66871133G>A | CA475502551 | PC | c.552C>T (p.Ser184=) n.290-21068C>T c.432C>T (p.Ser144=) | ClinVar dbSNP |
11 | g.66871133G>C | CA475502552 | PC | c.552C>G (p.Ser184=) n.290-21068C>G c.432C>G (p.Ser144=) | |
11 | g.66871133G= | CA1979904799 | PC | c.552C= (p.Ser184=) n.290-21068C= c.432C= (p.Ser144=) | |
11 | g.66871133G>T | CA475502553 | PC | c.552C>A (p.Ser184=) n.290-21068C>A c.432C>A (p.Ser144=) | |
11 | g.66871134G>A | CA381502184 | PC | c.551C>T (p.Ser184Phe) n.290-21069C>T c.431C>T (p.Ser144Phe) | |
11 | g.66871134G>C | CA381502182 | PC | c.551C>G (p.Ser184Cys) n.290-21069C>G c.431C>G (p.Ser144Cys) | ClinVar dbSNP gnomAD v4 |
11 | g.66871134G= | CA1979904802 | PC | c.551C= (p.Ser184=) n.290-21069C= c.431C= (p.Ser144=) | |
11 | g.66871134G>T | CA381502183 | PC | c.551C>A (p.Ser184Tyr) n.290-21069C>A c.431C>A (p.Ser144Tyr) | |
11 | g.66871135A>C | CA381502185 | PC | c.550T>G (p.Ser184Ala) n.290-21070T>G c.430T>G (p.Ser144Ala) | gnomAD v4 |
11 | g.66871135A>G | CA381502186 | PC | c.550T>C (p.Ser184Pro) n.290-21070T>C c.430T>C (p.Ser144Pro) | |
11 | g.66871135A>T | CA381502187 | PC | c.550T>A (p.Ser184Thr) n.290-21070T>A c.430T>A (p.Ser144Thr) | |
11 | g.66871136G>A | CA475502557 | PC | c.549C>T (p.Phe183=) n.290-21071C>T c.429C>T (p.Phe143=) | |
11 | g.66871136G>C | CA381502188 | PC | c.549C>G (p.Phe183Leu) n.290-21071C>G c.429C>G (p.Phe143Leu) | |
11 | g.66871136G>T | CA381502189 | PC | c.549C>A (p.Phe183Leu) n.290-21071C>A c.429C>A (p.Phe143Leu) | |
11 | g.66871137A>C | CA381502190 | PC | c.548T>G (p.Phe183Cys) n.290-21072T>G c.428T>G (p.Phe143Cys) | |
11 | g.66871137A>G | CA381502191 | PC | c.548T>C (p.Phe183Ser) n.290-21072T>C c.428T>C (p.Phe143Ser) | |
11 | g.66871137A>T | CA381502192 | PC | c.548T>A (p.Phe183Tyr) n.290-21072T>A c.428T>A (p.Phe143Tyr) | |
11 | g.66871138A>C | CA381502193 | PC | c.547T>G (p.Phe183Val) n.290-21073T>G c.427T>G (p.Phe143Val) | |
11 | g.66871138A>G | CA381502194 | PC | c.547T>C (p.Phe183Leu) n.290-21073T>C c.427T>C (p.Phe143Leu) | gnomAD v4 |
11 | g.66871138A>T | CA381502195 | PC | c.547T>A (p.Phe183Ile) n.290-21073T>A c.427T>A (p.Phe143Ile) | |
11 | g.66871139C>A | CA381502196 | PC | c.546G>T (p.Glu182Asp) n.290-21074G>T c.426G>T (p.Glu142Asp) | |
11 | g.66871139C>G | CA381502197 | PC | c.546G>C (p.Glu182Asp) n.290-21074G>C c.426G>C (p.Glu142Asp) | |
11 | g.66871139C>T | CA475502561 | PC | c.546G>A (p.Glu182=) n.290-21074G>A c.426G>A (p.Glu142=) | |
11 | g.66871140T>A | CA381502198 | PC | c.545A>T (p.Glu182Val) n.290-21075A>T c.425A>T (p.Glu142Val) | |
11 | g.66871140T>C | CA381502199 | PC | c.545A>G (p.Glu182Gly) n.290-21075A>G c.425A>G (p.Glu142Gly) | gnomAD v4 |
11 | g.66871140T>G | CA381502200 | PC | c.545A>C (p.Glu182Ala) n.290-21075A>C c.425A>C (p.Glu142Ala) | |
11 | g.66871141C>A | CA381502201 | PC | c.544G>T (p.Glu182Ter) n.290-21076G>T c.424G>T (p.Glu142Ter) | COSMIC COSMIC |
11 | g.66871141C= | CA1979904812 | PC | c.544G= (p.Glu182=) n.290-21076G= c.424G= (p.Glu142=) | |
11 | g.66871141C>G | CA381502202 | PC | c.544G>C (p.Glu182Gln) n.290-21076G>C c.424G>C (p.Glu142Gln) | |
11 | g.66871141C>T | CA6132188 | PC | c.544G>A (p.Glu182Lys) n.290-21076G>A c.424G>A (p.Glu142Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.66871142G>A | CA6132189 | PC | c.543C>T (p.His181=) n.290-21077C>T c.423C>T (p.His141=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
11 | g.66871142G>C | CA381502203 | PC | c.543C>G (p.His181Gln) n.290-21077C>G c.423C>G (p.His141Gln) | |
11 | g.66871142G= | CA1979904822 | PC | c.543C= (p.His181=) n.290-21077C= c.423C= (p.His141=) | |
11 | g.66871142G>T | CA381502204 | PC | c.543C>A (p.His181Gln) n.290-21077C>A c.423C>A (p.His141Gln) | gnomAD v4 |
11 | g.66871143T>A | CA381502205 | PC | c.542A>T (p.His181Leu) n.290-21078A>T c.422A>T (p.His141Leu) | |
11 | g.66871143T>C | CA381502206 | PC | c.542A>G (p.His181Arg) n.290-21078A>G c.422A>G (p.His141Arg) | dbSNP gnomAD v4 |
11 | g.66871143T>G | CA381502207 | PC | c.542A>C (p.His181Pro) n.290-21078A>C c.422A>C (p.His141Pro) | |
11 | g.66871143T= | CA1979904832 | PC | c.542A= (p.His181=) n.290-21078A= c.422A= (p.His141=) | |
11 | g.66871144G>A | CA381502209 | PC | c.541C>T (p.His181Tyr) n.290-21079C>T c.421C>T (p.His141Tyr) | |
11 | g.66871144G>C | CA381502210 | PC | c.541C>G (p.His181Asp) n.290-21079C>G c.421C>G (p.His141Asp) | |
11 | g.66871144G>T | CA381502208 | PC | c.541C>A (p.His181Asn) n.290-21079C>A c.421C>A (p.His141Asn) | |
11 | g.66871145G>A | CA475502565 | PC | c.540C>T (p.Ala180=) n.290-21080C>T c.420C>T (p.Ala140=) | |
11 | g.66871145G>C | CA475502566 | PC | c.540C>G (p.Ala180=) n.290-21080C>G c.420C>G (p.Ala140=) | gnomAD v4 |
11 | g.66871145G>T | CA475502567 | PC | c.540C>A (p.Ala180=) n.290-21080C>A c.420C>A (p.Ala140=) | |
11 | g.66871146G>A | CA381502211 | PC | c.539C>T (p.Ala180Val) n.290-21081C>T c.419C>T (p.Ala140Val) | |
11 | g.66871146G>C | CA381502212 | PC | c.539C>G (p.Ala180Gly) n.290-21081C>G c.419C>G (p.Ala140Gly) | |
11 | g.66871146G>T | CA381502213 | PC | c.539C>A (p.Ala180Asp) n.290-21081C>A c.419C>A (p.Ala140Asp) | |
11 | g.66871147C>A | CA381502214 | PC | c.538G>T (p.Ala180Ser) n.290-21082G>T c.418G>T (p.Ala140Ser) | |
11 | g.66871147C>G | CA381502215 | PC | c.538G>C (p.Ala180Pro) n.290-21082G>C c.418G>C (p.Ala140Pro) | |
11 | g.66871147C>T | CA381502216 | PC | c.538G>A (p.Ala180Thr) n.290-21082G>A c.418G>A (p.Ala140Thr) | |
11 | g.66871148C>A | CA381502217 | PC | c.537G>T (p.Glu179Asp) n.290-21083G>T c.417G>T (p.Glu139Asp) | dbSNP gnomAD v4 |
11 | g.66871148C= | CA1979904839 | PC | c.537G= (p.Glu179=) n.290-21083G= c.417G= (p.Glu139=) | |
11 | g.66871148C>G | CA381502218 | PC | c.537G>C (p.Glu179Asp) n.290-21083G>C c.417G>C (p.Glu139Asp) | |
11 | g.66871148C>T | CA224094975 | PC | c.537G>A (p.Glu179=) n.290-21083G>A c.417G>A (p.Glu139=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.66871149T>A | CA381502219 | PC | c.536A>T (p.Glu179Val) n.290-21084A>T c.416A>T (p.Glu139Val) | |
11 | g.66871149T>C | CA381502220 | PC | c.536A>G (p.Glu179Gly) n.290-21084A>G c.416A>G (p.Glu139Gly) | |
11 | g.66871149T>G | CA381502221 | PC | c.536A>C (p.Glu179Ala) n.290-21084A>C c.416A>C (p.Glu139Ala) | |
11 | g.66871150C>A | CA381502223 | PC | c.535G>T (p.Glu179Ter) n.290-21085G>T c.415G>T (p.Glu139Ter) | |
11 | g.66871150C>G | CA381502224 | PC | c.535G>C (p.Glu179Gln) n.290-21085G>C c.415G>C (p.Glu139Gln) | |
11 | g.66871150C>T | CA381502222 | PC | c.535G>A (p.Glu179Lys) n.290-21085G>A c.415G>A (p.Glu139Lys) | |
11 | g.66871151A>C | CA381502225 | PC | c.534T>G (p.His178Gln) n.290-21086T>G c.414T>G (p.His138Gln) | |
11 | g.66871151A>G | CA475502575 | PC | c.534T>C (p.His178=) n.290-21086T>C c.414T>C (p.His138=) | |
11 | g.66871151A>T | CA381502226 | PC | c.534T>A (p.His178Gln) n.290-21086T>A c.414T>A (p.His138Gln) | |
11 | g.66871152T>A | CA381502227 | PC | c.533A>T (p.His178Leu) n.290-21087A>T c.413A>T (p.His138Leu) | gnomAD v4 |
11 | g.66871152T>C | CA381502228 | PC | c.533A>G (p.His178Arg) n.290-21087A>G c.413A>G (p.His138Arg) | gnomAD v4 |
11 | g.66871152T>G | CA381502229 | PC | c.533A>C (p.His178Pro) n.290-21087A>C c.413A>C (p.His138Pro) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.66871153G>A | CA381502232 | PC | c.532C>T (p.His178Tyr) n.290-21088C>T c.412C>T (p.His138Tyr) | |
11 | g.66871153G>C | CA381502231 | PC | c.532C>G (p.His178Asp) n.290-21088C>G c.412C>G (p.His138Asp) | |
11 | g.66871153G>T | CA381502230 | PC | c.532C>A (p.His178Asn) n.290-21088C>A c.412C>A (p.His138Asn) | |
11 | g.66871154C>A | CA475502582 | PC | c.531G>T (p.Leu177=) n.290-21089G>T c.411G>T (p.Leu137=) | |
11 | g.66871154C>G | CA475502580 | PC | c.531G>C (p.Leu177=) n.290-21089G>C c.411G>C (p.Leu137=) | COSMIC COSMIC |
11 | g.66871154C>T | CA475502578 | PC | c.531G>A (p.Leu177=) n.290-21089G>A c.411G>A (p.Leu137=) | ClinVar dbSNP |
11 | g.66871155A>C | CA381502233 | PC | c.530T>G (p.Leu177Arg) n.290-21090T>G c.410T>G (p.Leu137Arg) | |
11 | g.66871155A>G | CA381502234 | PC | c.530T>C (p.Leu177Pro) n.290-21090T>C c.410T>C (p.Leu137Pro) | |
11 | g.66871155A>T | CA381502235 | PC | c.530T>A (p.Leu177Gln) n.290-21090T>A c.410T>A (p.Leu137Gln) | |
11 | g.66871156G>A | CA475502584 | PC | c.529C>T (p.Leu177=) n.290-21091C>T c.409C>T (p.Leu137=) | |
11 | g.66871156G>C | CA381502236 | PC | c.529C>G (p.Leu177Val) n.290-21091C>G c.409C>G (p.Leu137Val) | |
11 | g.66871156G>T | CA381502237 | PC | c.529C>A (p.Leu177Met) n.290-21091C>A c.409C>A (p.Leu137Met) | COSMIC COSMIC |
11 | g.66871157G>A | CA6132190 | PC | c.528C>T (p.Ser176=) n.290-21092C>T c.408C>T (p.Ser136=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.66871157G>C | CA475502587 | PC | c.528C>G (p.Ser176=) n.290-21092C>G c.408C>G (p.Ser136=) | |
11 | g.66871157G= | CA1979904844 | PC | c.528C= (p.Ser176=) n.290-21092C= c.408C= (p.Ser136=) | |
11 | g.66871157G>T | CA475502585 | PC | c.528C>A (p.Ser176=) n.290-21092C>A c.408C>A (p.Ser136=) | |
11 | g.66871158G>A | CA381502240 | PC | c.527C>T (p.Ser176Phe) n.290-21093C>T c.407C>T (p.Ser136Phe) | dbSNP gnomAD v4 |
11 | g.66871158G>C | CA381502239 | PC | c.527C>G (p.Ser176Cys) n.290-21093C>G c.407C>G (p.Ser136Cys) | |
11 | g.66871158G= | CA1979904850 | PC | c.527C= (p.Ser176=) n.290-21093C= c.407C= (p.Ser136=) | |
11 | g.66871158G>T | CA381502238 | PC | c.527C>A (p.Ser176Tyr) n.290-21093C>A c.407C>A (p.Ser136Tyr) | gnomAD v4 |
11 | g.66871159A>C | CA381502241 | PC | c.526T>G (p.Ser176Ala) n.290-21094T>G c.406T>G (p.Ser136Ala) | |
11 | g.66871159A>G | CA381502243 | PC | c.526T>C (p.Ser176Pro) n.290-21094T>C c.406T>C (p.Ser136Pro) | |
11 | g.66871159A>T | CA381502242 | PC | c.526T>A (p.Ser176Thr) n.290-21094T>A c.406T>A (p.Ser136Thr) | |
11 | g.66871160C>A | CA475502588 | PC | c.525G>T (p.Thr175=) n.290-21095G>T c.405G>T (p.Thr135=) | |
11 | g.66871160C= | CA1979904858 | PC | c.525G= (p.Thr175=) n.290-21095G= c.405G= (p.Thr135=) | |
11 | g.66871160C>G | CA224094989 | PC | c.525G>C (p.Thr175=) n.290-21095G>C c.405G>C (p.Thr135=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.66871160C>T | CA6132191 | PC | c.525G>A (p.Thr175=) n.290-21095G>A c.405G>A (p.Thr135=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.66871161G>A | CA224094999 | PC | c.524C>T (p.Thr175Met) n.290-21096C>T c.404C>T (p.Thr135Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.66871161G>C | CA381502244 | PC | c.524C>G (p.Thr175Arg) n.290-21096C>G c.404C>G (p.Thr135Arg) | |
11 | g.66871161G= | CA1979904867 | PC | c.524C= (p.Thr175=) n.290-21096C= c.404C= (p.Thr135=) | |
11 | g.66871161G>T | CA381502245 | PC | c.524C>A (p.Thr175Lys) n.290-21096C>A c.404C>A (p.Thr135Lys) | |
11 | g.66871162T>A | CA381502246 | PC | c.523A>T (p.Thr175Ser) n.290-21097A>T c.403A>T (p.Thr135Ser) | |
11 | g.66871162T>C | CA381502247 | PC | c.523A>G (p.Thr175Ala) n.290-21097A>G c.403A>G (p.Thr135Ala) | |
11 | g.66871162T>G | CA381502248 | PC | c.523A>C (p.Thr175Pro) n.290-21097A>C c.403A>C (p.Thr135Pro) | |
11 | g.66871163G>A | CA475502590 | PC | c.522C>T (p.Ile174=) n.290-21098C>T c.402C>T (p.Ile134=) | |
11 | g.66871163G>C | CA381502249 | PC | c.522C>G (p.Ile174Met) n.290-21098C>G c.402C>G (p.Ile134Met) | |
11 | g.66871163G>T | CA475502591 | PC | c.522C>A (p.Ile174=) n.290-21098C>A c.402C>A (p.Ile134=) | |
11 | g.66871164A>C | CA381502250 | PC | c.521T>G (p.Ile174Ser) n.290-21099T>G c.401T>G (p.Ile134Ser) | |
11 | g.66871164A>G | CA381502251 | PC | c.521T>C (p.Ile174Thr) n.290-21099T>C c.401T>C (p.Ile134Thr) | |
11 | g.66871164A>T | CA381502252 | PC | c.521T>A (p.Ile174Asn) n.290-21099T>A c.401T>A (p.Ile134Asn) | |
11 | g.66871165T>A | CA381502253 | PC | c.520A>T (p.Ile174Phe) n.290-21100A>T c.400A>T (p.Ile134Phe) | |
11 | g.66871165T>C | CA381502254 | PC | c.520A>G (p.Ile174Val) n.290-21100A>G c.400A>G (p.Ile134Val) | |
11 | g.66871165T>G | CA381502255 | PC | c.520A>C (p.Ile174Leu) n.290-21100A>C c.400A>C (p.Ile134Leu) | gnomAD v4 |
11 | g.66871166G>A | CA475502593 | PC | c.519C>T (p.Pro173=) n.290-21101C>T c.399C>T (p.Pro133=) | |
11 | g.66871166G>C | CA475502594 | PC | c.519C>G (p.Pro173=) n.290-21101C>G c.399C>G (p.Pro133=) | ClinVar |
11 | g.66871166G= | CA1979904872 | PC | c.519C= (p.Pro173=) n.290-21101C= c.399C= (p.Pro133=) | |
11 | g.66871166G>T | CA475502596 | PC | c.519C>A (p.Pro173=) n.290-21101C>A c.399C>A (p.Pro133=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.66871166_66871180dup | CA2614544055 | PC | c.505_519dup (p.Pro173_Ile174insGlyThrAspAlaPro) n.290-21115_290-21101dup c.385_399dup (p.Pro133_Ile134insGlyThrAspAlaPro) | gnomAD v4 |
11 | g.66871167G>A | CA381502256 | PC | c.518C>T (p.Pro173Leu) n.290-21102C>T c.398C>T (p.Pro133Leu) | gnomAD v4 |
11 | g.66871167G>C | CA381502258 | PC | c.518C>G (p.Pro173Arg) n.290-21102C>G c.398C>G (p.Pro133Arg) | |
11 | g.66871167G>T | CA381502257 | PC | c.518C>A (p.Pro173His) n.290-21102C>A c.398C>A (p.Pro133His) | |
11 | g.66871167_66871168insAGGCACCCAGGTCACACCCGGCTATGGTGAACGT | CA2614544065 | PC | c.517_518insACGTTCACCATAGCCGGGTGTGACCTGGGTGCCT (p.Pro173HisfsTer8) n.290-21103_290-21102insACGTTCACCATAGCCGGGTGTGACCTGGGTGCCT c.397_398insACGTTCACCATAGCCGGGTGTGACCTGGGTGCCT (p.Pro133HisfsTer8) | gnomAD v4 |
11 | g.66871168G>A | CA381502259 | PC | c.517C>T (p.Pro173Ser) n.290-21103C>T c.397C>T (p.Pro133Ser) | |
11 | g.66871168G>C | CA381502260 | PC | c.517C>G (p.Pro173Ala) n.290-21103C>G c.397C>G (p.Pro133Ala) | |
11 | g.66871168G>T | CA381502261 | PC | c.517C>A (p.Pro173Thr) n.290-21103C>A c.397C>A (p.Pro133Thr) | |
11 | g.66871169G>A | CA475502597 | PC | c.516C>T (p.Ala172=) n.290-21104C>T c.396C>T (p.Ala132=) | ClinVar dbSNP gnomAD v4 |
11 | g.66871169G>C | CA475502599 | PC | c.516C>G (p.Ala172=) n.290-21104C>G c.396C>G (p.Ala132=) | gnomAD v4 |
11 | g.66871169G= | CA1979904878 | PC | c.516C= (p.Ala172=) n.290-21104C= c.396C= (p.Ala132=) | |
11 | g.66871169G>T | CA475502600 | PC | c.516C>A (p.Ala172=) n.290-21104C>A c.396C>A (p.Ala132=) |