Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.219209940_219209941delCA2577297881ABCB6,ATG9Ac.2527_2528del (p.Ter843ThrextTer?)
c.2389_2390del (p.Ter797ThrextTer?)
c.2070_2071del
c.515_516del
c.5077_5078del
n.794_795del
n.600_601del
n.2840_2841del
2g.219209941C>ACA431283483ABCB6,ATG9Ac.2526G>T (p.Arg842=)
c.2388G>T (p.Arg796=)
c.2069G>T
c.514G>T
c.5076G>T
n.793G>T
n.599G>T
n.2839G>T
2g.219209941C=CA1329111452ABCB6,ATG9Ac.2526G= (p.Arg842=)
c.2388G= (p.Arg796=)
c.2069G=
c.514G=
c.5076G=
n.793G=
n.599G=
n.2839G=
2g.219209941C>GCA431283485ABCB6,ATG9Ac.2526G>C (p.Arg842=)
c.2388G>C (p.Arg796=)
c.2069G>C
c.514G>C
c.5076G>C
n.793G>C
n.599G>C
n.2839G>C
2g.219209941C>TCA431283484ABCB6,ATG9Ac.2526G>A (p.Arg842=)
c.2388G>A (p.Arg796=)
c.2069G>A
c.514G>A
c.5076G>A
n.793G>A
n.599G>A
n.2839G>A
 dbSNP gnomAD v2 gnomAD v4
2g.219209942C>ACA350680643ABCB6,ATG9Ac.2525G>T (p.Arg842Leu)
c.2387G>T (p.Arg796Leu)
c.2068G>T
c.513G>T
c.5075G>T
n.792G>T
n.598G>T
n.2838G>T
2g.219209942C=CA1329111453ABCB6,ATG9Ac.2525G= (p.Arg842=)
c.2387G= (p.Arg796=)
c.2068G=
c.513G=
c.5075G=
n.792G=
n.598G=
n.2838G=
2g.219209942C>GCA350680649ABCB6,ATG9Ac.2525G>C (p.Arg842Pro)
c.2387G>C (p.Arg796Pro)
c.2068G>C
c.513G>C
c.5075G>C
n.792G>C
n.598G>C
n.2838G>C
2g.219209942C>TCA2118866ABCB6,ATG9Ac.2525G>A (p.Arg842Gln)
c.2387G>A (p.Arg796Gln)
c.2068G>A
c.513G>A
c.5075G>A
n.792G>A
n.598G>A
n.2838G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.219209943G>ACA350680658ABCB6,ATG9Ac.2524C>T (p.Arg842Trp)
c.2386C>T (p.Arg796Trp)
c.2067C>T
c.512C>T
c.5074C>T
n.791C>T
n.597C>T
n.2837C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.219209943G>CCA350680652ABCB6,ATG9Ac.2524C>G (p.Arg842Gly)
c.2386C>G (p.Arg796Gly)
c.2067C>G
c.512C>G
c.5074C>G
n.791C>G
n.597C>G
n.2837C>G
2g.219209943G=CA1329111454ABCB6,ATG9Ac.2524C= (p.Arg842=)
c.2386C= (p.Arg796=)
c.2067C=
c.512C=
c.5074C=
n.791C=
n.597C=
n.2837C=
2g.219209943G>TCA431283489ABCB6,ATG9Ac.2524C>A (p.Arg842=)
c.2386C>A (p.Arg796=)
c.2067C>A
c.512C>A
c.5074C>A
n.791C>A
n.597C>A
n.2837C>A
2g.219209944T>ACA350680659ABCB6,ATG9Ac.2523A>T (p.Glu841Asp)
c.2385A>T (p.Glu795Asp)
c.2066A>T
c.511A>T
c.5073A>T
n.790A>T
n.596A>T
n.2836A>T
2g.219209944T>CCA431283490ABCB6,ATG9Ac.2523A>G (p.Glu841=)
c.2385A>G (p.Glu795=)
c.2066A>G
c.511A>G
c.5073A>G
n.790A>G
n.596A>G
n.2836A>G
2g.219209944T>GCA350680671ABCB6,ATG9Ac.2523A>C (p.Glu841Asp)
c.2385A>C (p.Glu795Asp)
c.2066A>C
c.511A>C
c.5073A>C
n.790A>C
n.596A>C
n.2836A>C
2g.219209945T>ACA350680672ABCB6,ATG9Ac.2522A>T (p.Glu841Val)
c.2384A>T (p.Glu795Val)
c.2065A>T
c.510A>T
c.5072A>T
n.789A>T
n.595A>T
n.2835A>T
2g.219209945T>CCA350680673ABCB6,ATG9Ac.2522A>G (p.Glu841Gly)
c.2384A>G (p.Glu795Gly)
c.2065A>G
c.510A>G
c.5072A>G
n.789A>G
n.595A>G
n.2835A>G
2g.219209945T>GCA350680676ABCB6,ATG9Ac.2522A>C (p.Glu841Ala)
c.2384A>C (p.Glu795Ala)
c.2065A>C
c.510A>C
c.5072A>C
n.789A>C
n.595A>C
n.2835A>C
2g.219209946C>ACA350680678ABCB6,ATG9Ac.2521G>T (p.Glu841Ter)
c.2383G>T (p.Glu795Ter)
c.2064G>T
c.509G>T
c.5071G>T
n.788G>T
n.594G>T
n.2834G>T
2g.219209946C=CA1329111455ABCB6,ATG9Ac.2521G= (p.Glu841=)
c.2383G= (p.Glu795=)
c.2064G=
c.509G=
c.5071G=
n.788G=
n.594G=
n.2834G=
2g.219209946C>GCA350680680ABCB6,ATG9Ac.2521G>C (p.Glu841Gln)
c.2383G>C (p.Glu795Gln)
c.2064G>C
c.509G>C
c.5071G>C
n.788G>C
n.594G>C
n.2834G>C
2g.219209946C>TCA350680685ABCB6,ATG9Ac.2521G>A (p.Glu841Lys)
c.2383G>A (p.Glu795Lys)
c.2064G>A
c.509G>A
c.5071G>A
n.788G>A
n.594G>A
n.2834G>A
 dbSNP gnomAD v4
2g.219209947C>ACA350680687ABCB6,ATG9Ac.2520G>T (p.Met840Ile)
c.2382G>T (p.Met794Ile)
c.2063G>T
c.508G>T
c.5070G>T
n.787G>T
n.593G>T
n.2833G>T
2g.219209947C>GCA350680689ABCB6,ATG9Ac.2520G>C (p.Met840Ile)
c.2382G>C (p.Met794Ile)
c.2063G>C
c.508G>C
c.5070G>C
n.787G>C
n.593G>C
n.2833G>C
2g.219209947C>TCA350680697ABCB6,ATG9Ac.2520G>A (p.Met840Ile)
c.2382G>A (p.Met794Ile)
c.2063G>A
c.508G>A
c.5070G>A
n.787G>A
n.593G>A
n.2833G>A
2g.219209948A=CA1329111456ABCB6,ATG9Ac.2519T= (p.Met840=)
c.2381T= (p.Met794=)
c.2062T=
c.507T=
c.5069T=
n.786T=
n.592T=
n.2832T=
2g.219209948A>CCA350680700ABCB6,ATG9Ac.2519T>G (p.Met840Arg)
c.2381T>G (p.Met794Arg)
c.2062T>G
c.507T>G
c.5069T>G
n.786T>G
n.592T>G
n.2832T>G
2g.219209948A>GCA350680702ABCB6,ATG9Ac.2519T>C (p.Met840Thr)
c.2381T>C (p.Met794Thr)
c.2062T>C
c.507T>C
c.5069T>C
n.786T>C
n.592T>C
n.2832T>C
 dbSNP
2g.219209948A>TCA350680705ABCB6,ATG9Ac.2519T>A (p.Met840Lys)
c.2381T>A (p.Met794Lys)
c.2062T>A
c.507T>A
c.5069T>A
n.786T>A
n.592T>A
n.2832T>A
2g.219209949T>ACA350680710ABCB6,ATG9Ac.2518A>T (p.Met840Leu)
c.2380A>T (p.Met794Leu)
c.2061A>T
c.506A>T
c.5068A>T
n.785A>T
n.591A>T
n.2831A>T
 gnomAD v4
2g.219209949T>CCA350680707ABCB6,ATG9Ac.2518A>G (p.Met840Val)
c.2380A>G (p.Met794Val)
c.2061A>G
c.506A>G
c.5068A>G
n.785A>G
n.591A>G
n.2831A>G
2g.219209949T>GCA350680708ABCB6,ATG9Ac.2518A>C (p.Met840Leu)
c.2380A>C (p.Met794Leu)
c.2061A>C
c.506A>C
c.5068A>C
n.785A>C
n.591A>C
n.2831A>C
2g.219209950G>ACA431283495ABCB6,ATG9Ac.2517C>T (p.Thr839=)
c.2379C>T (p.Thr793=)
c.2060C>T
c.505C>T
c.5067C>T
n.784C>T
n.590C>T
n.2830C>T
2g.219209950G>CCA431283497ABCB6,ATG9Ac.2517C>G (p.Thr839=)
c.2379C>G (p.Thr793=)
c.2060C>G
c.505C>G
c.5067C>G
n.784C>G
n.590C>G
n.2830C>G
2g.219209950G>TCA431283498ABCB6,ATG9Ac.2517C>A (p.Thr839=)
c.2379C>A (p.Thr793=)
c.2060C>A
c.505C>A
c.5067C>A
n.784C>A
n.590C>A
n.2830C>A
2g.219209951G>ACA65997382ABCB6,ATG9Ac.2516C>T (p.Thr839Ile)
c.2378C>T (p.Thr793Ile)
c.2059C>T
c.504C>T
c.5066C>T
n.783C>T
n.589C>T
n.2829C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.219209951G>CCA350680715ABCB6,ATG9Ac.2516C>G (p.Thr839Ser)
c.2378C>G (p.Thr793Ser)
c.2059C>G
c.504C>G
c.5066C>G
n.783C>G
n.589C>G
n.2829C>G
2g.219209951G=CA1329111457ABCB6,ATG9Ac.2516C= (p.Thr839=)
c.2378C= (p.Thr793=)
c.2059C=
c.504C=
c.5066C=
n.783C=
n.589C=
n.2829C=
2g.219209951G>TCA350680717ABCB6,ATG9Ac.2516C>A (p.Thr839Asn)
c.2378C>A (p.Thr793Asn)
c.2059C>A
c.504C>A
c.5066C>A
n.783C>A
n.589C>A
n.2829C>A
2g.219209952T>ACA350680719ABCB6,ATG9Ac.2515A>T (p.Thr839Ser)
c.2377A>T (p.Thr793Ser)
c.2058A>T
c.503A>T
c.5065A>T
n.782A>T
n.588A>T
n.2828A>T
2g.219209952T>CCA350680721ABCB6,ATG9Ac.2515A>G (p.Thr839Ala)
c.2377A>G (p.Thr793Ala)
c.2058A>G
c.503A>G
c.5065A>G
n.782A>G
n.588A>G
n.2828A>G
2g.219209952T>GCA350680728ABCB6,ATG9Ac.2515A>C (p.Thr839Pro)
c.2377A>C (p.Thr793Pro)
c.2058A>C
c.503A>C
c.5065A>C
n.782A>C
n.588A>C
n.2828A>C
2g.219209953C>ACA350680735ABCB6,ATG9Ac.2514G>T (p.Gln838His)
c.2376G>T (p.Gln792His)
c.2057G>T
c.502G>T
c.5064G>T
n.781G>T
n.587G>T
n.2827G>T
2g.219209953C=CA1329111458ABCB6,ATG9Ac.2514G= (p.Gln838=)
c.2376G= (p.Gln792=)
c.2057G=
c.502G=
c.5064G=
n.781G=
n.587G=
n.2827G=
2g.219209953C>GCA350680737ABCB6,ATG9Ac.2514G>C (p.Gln838His)
c.2376G>C (p.Gln792His)
c.2057G>C
c.502G>C
c.5064G>C
n.781G>C
n.587G>C
n.2827G>C
 dbSNP
2g.219209953C>TCA431283502ABCB6,ATG9Ac.2514G>A (p.Gln838=)
c.2376G>A (p.Gln792=)
c.2057G>A
c.502G>A
c.5064G>A
n.781G>A
n.587G>A
n.2827G>A
2g.219209954T>ACA350680739ABCB6,ATG9Ac.2513A>T (p.Gln838Leu)
c.2375A>T (p.Gln792Leu)
c.2056A>T
c.501A>T
c.5063A>T
n.780A>T
n.586A>T
n.2826A>T
 dbSNP gnomAD v4
2g.219209954T>CCA350680741ABCB6,ATG9Ac.2513A>G (p.Gln838Arg)
c.2375A>G (p.Gln792Arg)
c.2056A>G
c.501A>G
c.5063A>G
n.780A>G
n.586A>G
n.2826A>G
 gnomAD v4
2g.219209954T>GCA2118867ABCB6,ATG9Ac.2513A>C (p.Gln838Pro)
c.2375A>C (p.Gln792Pro)
c.2056A>C
c.501A>C
c.5063A>C
n.780A>C
n.586A>C
n.2826A>C
 dbSNP ExAC gnomAD v2
2g.219209954T=CA1329111459ABCB6,ATG9Ac.2513A= (p.Gln838=)
c.2375A= (p.Gln792=)
c.2056A=
c.501A=
c.5063A=
n.780A=
n.586A=
n.2826A=
2g.219209955G>ACA2118868ABCB6,ATG9Ac.2512C>T (p.Gln838Ter)
c.2374C>T (p.Gln792Ter)
c.2055C>T
c.500C>T
c.5062C>T
n.779C>T
n.585C>T
n.2825C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.219209955G>CCA350680755ABCB6,ATG9Ac.2512C>G (p.Gln838Glu)
c.2374C>G (p.Gln792Glu)
c.2055C>G
c.500C>G
c.5062C>G
n.779C>G
n.585C>G
n.2825C>G
 dbSNP
2g.219209955G=CA1329111460ABCB6,ATG9Ac.2512C= (p.Gln838=)
c.2374C= (p.Gln792=)
c.2055C=
c.500C=
c.5062C=
n.779C=
n.585C=
n.2825C=
2g.219209955G>TCA350680744ABCB6,ATG9Ac.2512C>A (p.Gln838Lys)
c.2374C>A (p.Gln792Lys)
c.2055C>A
c.500C>A
c.5062C>A
n.779C>A
n.585C>A
n.2825C>A
2g.219209956A=CA1329111461ABCB6,ATG9Ac.2511T= (p.Pro837=)
c.2373T= (p.Pro791=)
c.2054T=
c.499T=
c.5061T=
n.778T=
n.584T=
n.2824T=
2g.219209956A>CCA431283506ABCB6,ATG9Ac.2511T>G (p.Pro837=)
c.2373T>G (p.Pro791=)
c.2054T>G
c.499T>G
c.5061T>G
n.778T>G
n.584T>G
n.2824T>G
2g.219209956A>GCA431283507ABCB6,ATG9Ac.2511T>C (p.Pro837=)
c.2373T>C (p.Pro791=)
c.2054T>C
c.499T>C
c.5061T>C
n.778T>C
n.584T>C
n.2824T>C
 dbSNP gnomAD v3 gnomAD v4
2g.219209956A>TCA431283508ABCB6,ATG9Ac.2511T>A (p.Pro837=)
c.2373T>A (p.Pro791=)
c.2054T>A
c.499T>A
c.5061T>A
n.778T>A
n.584T>A
n.2824T>A
2g.219209957G>ACA2118869ABCB6,ATG9Ac.2510C>T (p.Pro837Leu)
c.2372C>T (p.Pro791Leu)
c.2053C>T
c.498C>T
c.5060C>T
n.777C>T
n.583C>T
n.2823C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.219209957G>CCA350680760ABCB6,ATG9Ac.2510C>G (p.Pro837Arg)
c.2372C>G (p.Pro791Arg)
c.2053C>G
c.498C>G
c.5060C>G
n.777C>G
n.583C>G
n.2823C>G
2g.219209957G=CA1329111462ABCB6,ATG9Ac.2510C= (p.Pro837=)
c.2372C= (p.Pro791=)
c.2053C=
c.498C=
c.5060C=
n.777C=
n.583C=
n.2823C=
2g.219209957G>TCA350680763ABCB6,ATG9Ac.2510C>A (p.Pro837His)
c.2372C>A (p.Pro791His)
c.2053C>A
c.498C>A
c.5060C>A
n.777C>A
n.583C>A
n.2823C>A
2g.219209958G>ACA350680767ABCB6,ATG9Ac.2509C>T (p.Pro837Ser)
c.2371C>T (p.Pro791Ser)
c.2052C>T
c.497C>T
c.5059C>T
n.776C>T
n.582C>T
n.2822C>T
 gnomAD v4
2g.219209958G>CCA350680770ABCB6,ATG9Ac.2509C>G (p.Pro837Ala)
c.2371C>G (p.Pro791Ala)
c.2052C>G
c.497C>G
c.5059C>G
n.776C>G
n.582C>G
n.2822C>G
2g.219209958G>TCA350680771ABCB6,ATG9Ac.2509C>A (p.Pro837Thr)
c.2371C>A (p.Pro791Thr)
c.2052C>A
c.497C>A
c.5059C>A
n.776C>A
n.582C>A
n.2822C>A
2g.219209958_219209966delinsGCTTAGTGTCA1329111463ABCB6,ATG9Ac.2501_2509delinsACACTAAGC (p.Asp834=)
c.2363_2371delinsACACTAAGC (p.Asp788=)
c.2044_2052delinsACACTAAGC
c.489_497delinsACACTAAGC
c.5051_5059delinsACACTAAGC
n.768_776delinsACACTAAGC
n.574_582delinsACACTAAGC
n.2814_2822delinsACACTAAGC
2g.219209959C>ACA350680773ABCB6,ATG9Ac.2508G>T (p.Lys836Asn)
c.2370G>T (p.Lys790Asn)
c.2051G>T
c.496G>T
c.5058G>T
n.775G>T
n.581G>T
n.2821G>T
2g.219209959C>GCA350680772ABCB6,ATG9Ac.2508G>C (p.Lys836Asn)
c.2370G>C (p.Lys790Asn)
c.2051G>C
c.496G>C
c.5058G>C
n.775G>C
n.581G>C
n.2821G>C
2g.219209959C>TCA431283513ABCB6,ATG9Ac.2508G>A (p.Lys836=)
c.2370G>A (p.Lys790=)
c.2051G>A
c.496G>A
c.5058G>A
n.775G>A
n.581G>A
n.2821G>A
2g.219209962_219209969delCA764954259ABCB6,ATG9Ac.2501_2508del (p.Asp834AlafsTer?)
c.2363_2370del (p.Asp788AlafsTer?)
c.2044_2051del
c.489_496del
c.5051_5058del
n.768_775del
n.574_581del
n.2814_2821del
 dbSNP
2g.219209960T>ACA350680774ABCB6,ATG9Ac.2507A>T (p.Lys836Met)
c.2369A>T (p.Lys790Met)
c.2050A>T
c.495A>T
c.5057A>T
n.774A>T
n.580A>T
n.2820A>T
 gnomAD v4
2g.219209960T>CCA350680775ABCB6,ATG9Ac.2507A>G (p.Lys836Arg)
c.2369A>G (p.Lys790Arg)
c.2050A>G
c.495A>G
c.5057A>G
n.774A>G
n.580A>G
n.2820A>G
2g.219209960T>GCA350680777ABCB6,ATG9Ac.2507A>C (p.Lys836Thr)
c.2369A>C (p.Lys790Thr)
c.2050A>C
c.495A>C
c.5057A>C
n.774A>C
n.580A>C
n.2820A>C
2g.219209961T>ACA350680780ABCB6,ATG9Ac.2506A>T (p.Lys836Ter)
c.2368A>T (p.Lys790Ter)
c.2049A>T
c.494A>T
c.5056A>T
n.773A>T
n.579A>T
n.2819A>T
2g.219209961T>CCA350680782ABCB6,ATG9Ac.2506A>G (p.Lys836Glu)
c.2368A>G (p.Lys790Glu)
c.2049A>G
c.494A>G
c.5056A>G
n.773A>G
n.579A>G
n.2819A>G
2g.219209961T>GCA350680788ABCB6,ATG9Ac.2506A>C (p.Lys836Gln)
c.2368A>C (p.Lys790Gln)
c.2049A>C
c.494A>C
c.5056A>C
n.773A>C
n.579A>C
n.2819A>C
2g.219209962A=CA1329111464ABCB6,ATG9Ac.2505T= (p.Thr835=)
c.2367T= (p.Thr789=)
c.2048T=
c.493T=
c.5055T=
n.772T=
n.578T=
n.2818T=
2g.219209962A>CCA65997392ABCB6,ATG9Ac.2505T>G (p.Thr835=)
c.2367T>G (p.Thr789=)
c.2048T>G
c.493T>G
c.5055T>G
n.772T>G
n.578T>G
n.2818T>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.219209962A>GCA431283516ABCB6,ATG9Ac.2505T>C (p.Thr835=)
c.2367T>C (p.Thr789=)
c.2048T>C
c.493T>C
c.5055T>C
n.772T>C
n.578T>C
n.2818T>C
2g.219209962A>TCA431283517ABCB6,ATG9Ac.2505T>A (p.Thr835=)
c.2367T>A (p.Thr789=)
c.2048T>A
c.493T>A
c.5055T>A
n.772T>A
n.578T>A
n.2818T>A
2g.219209963G>ACA350680791ABCB6,ATG9Ac.2504C>T (p.Thr835Ile)
c.2366C>T (p.Thr789Ile)
c.2047C>T
c.492C>T
c.5054C>T
n.771C>T
n.577C>T
n.2817C>T
 dbSNP gnomAD v2 gnomAD v4
2g.219209963G>CCA350680797ABCB6,ATG9Ac.2504C>G (p.Thr835Ser)
c.2366C>G (p.Thr789Ser)
c.2047C>G
c.492C>G
c.5054C>G
n.771C>G
n.577C>G
n.2817C>G
2g.219209963G=CA1329111465ABCB6,ATG9Ac.2504C= (p.Thr835=)
c.2366C= (p.Thr789=)
c.2047C=
c.492C=
c.5054C=
n.771C=
n.577C=
n.2817C=
2g.219209963G>TCA350680794ABCB6,ATG9Ac.2504C>A (p.Thr835Asn)
c.2366C>A (p.Thr789Asn)
c.2047C>A
c.492C>A
c.5054C>A
n.771C>A
n.577C>A
n.2817C>A
2g.219209963_219209969dupCA539629574ABCB6,ATG9Ac.2498_2504dup (p.Lys836ArgfsTer3)
c.2360_2366dup (p.Lys790ArgfsTer3)
c.2041_2047dup
c.486_492dup
c.5048_5054dup
n.765_771dup
n.571_577dup
n.2811_2817dup
 dbSNP gnomAD v2 gnomAD v4
2g.219209964delCA913089896ABCB6,ATG9Ac.2503del (p.Thr835LeufsTer?)
c.2365del (p.Thr789LeufsTer?)
c.2046del
c.491del
c.5053del
n.770del
n.576del
n.2816del
2g.219209964T>ACA350680799ABCB6,ATG9Ac.2503A>T (p.Thr835Ser)
c.2365A>T (p.Thr789Ser)
c.2046A>T
c.491A>T
c.5053A>T
n.770A>T
n.576A>T
n.2816A>T
2g.219209964T>CCA2118870ABCB6,ATG9Ac.2503A>G (p.Thr835Ala)
c.2365A>G (p.Thr789Ala)
c.2046A>G
c.491A>G
c.5053A>G
n.770A>G
n.576A>G
n.2816A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.219209964T>GCA350680802ABCB6,ATG9Ac.2503A>C (p.Thr835Pro)
c.2365A>C (p.Thr789Pro)
c.2046A>C
c.491A>C
c.5053A>C
n.770A>C
n.576A>C
n.2816A>C
2g.219209964T=CA1329111466ABCB6,ATG9Ac.2503A= (p.Thr835=)
c.2365A= (p.Thr789=)
c.2046A=
c.491A=
c.5053A=
n.770A=
n.576A=
n.2816A=
2g.219209965G>ACA431283519ABCB6,ATG9Ac.2502C>T (p.Asp834=)
c.2364C>T (p.Asp788=)
c.2045C>T
c.490C>T
c.5052C>T
n.769C>T
n.575C>T
n.2815C>T
 gnomAD v4
2g.219209965G>CCA350680804ABCB6,ATG9Ac.2502C>G (p.Asp834Glu)
c.2364C>G (p.Asp788Glu)
c.2045C>G
c.490C>G
c.5052C>G
n.769C>G
n.575C>G
n.2815C>G
2g.219209965G>TCA350680808ABCB6,ATG9Ac.2502C>A (p.Asp834Glu)
c.2364C>A (p.Asp788Glu)
c.2045C>A
c.490C>A
c.5052C>A
n.769C>A
n.575C>A
n.2815C>A
2g.219209966T>ACA2118871ABCB6,ATG9Ac.2501A>T (p.Asp834Val)
c.2363A>T (p.Asp788Val)
c.2044A>T
c.489A>T
c.5051A>T
n.768A>T
n.574A>T
n.2814A>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.219209966T>CCA350680817ABCB6,ATG9Ac.2501A>G (p.Asp834Gly)
c.2363A>G (p.Asp788Gly)
c.2044A>G
c.489A>G
c.5051A>G
n.768A>G
n.574A>G
n.2814A>G
2g.219209966T>GCA350680821ABCB6,ATG9Ac.2501A>C (p.Asp834Ala)
c.2363A>C (p.Asp788Ala)
c.2044A>C
c.489A>C
c.5051A>C
n.768A>C
n.574A>C
n.2814A>C
2g.219209966T=CA1329111467ABCB6,ATG9Ac.2501A= (p.Asp834=)
c.2363A= (p.Asp788=)
c.2044A=
c.489A=
c.5051A=
n.768A=
n.574A=
n.2814A=
2g.219209967C>ACA350680824ABCB6,ATG9Ac.2500G>T (p.Asp834Tyr)
c.2362G>T (p.Asp788Tyr)
c.2043G>T
c.488G>T
c.5050G>T
n.767G>T
n.573G>T
n.2813G>T
2g.219209967C=CA1329111468ABCB6,ATG9Ac.2500G= (p.Asp834=)
c.2362G= (p.Asp788=)
c.2043G=
c.488G=
c.5050G=
n.767G=
n.573G=
n.2813G=
2g.219209967C>GCA350680825ABCB6,ATG9Ac.2500G>C (p.Asp834His)
c.2362G>C (p.Asp788His)
c.2043G>C
c.488G>C
c.5050G>C
n.767G>C
n.573G>C
n.2813G>C
2g.219209967C>TCA2118872ABCB6,ATG9Ac.2500G>A (p.Asp834Asn)
c.2362G>A (p.Asp788Asn)
c.2043G>A
c.488G>A
c.5050G>A
n.767G>A
n.573G>A
n.2813G>A
 dbSNP ExAC gnomAD v2
2g.219209968T>ACA350680826ABCB6,ATG9Ac.2499A>T (p.Glu833Asp)
c.2361A>T (p.Glu787Asp)
c.2042A>T
c.487A>T
c.5049A>T
n.766A>T
n.572A>T
n.2812A>T
2g.219209968T>CCA431283524ABCB6,ATG9Ac.2499A>G (p.Glu833=)
c.2361A>G (p.Glu787=)
c.2042A>G
c.487A>G
c.5049A>G
n.766A>G
n.572A>G
n.2812A>G
2g.219209968T>GCA350680827ABCB6,ATG9Ac.2499A>C (p.Glu833Asp)
c.2361A>C (p.Glu787Asp)
c.2042A>C
c.487A>C
c.5049A>C
n.766A>C
n.572A>C
n.2812A>C
 dbSNP gnomAD v2 gnomAD v4
2g.219209968T=CA1329111469ABCB6,ATG9Ac.2499A= (p.Glu833=)
c.2361A= (p.Glu787=)
c.2042A=
c.487A=
c.5049A=
n.766A=
n.572A=
n.2812A=
2g.219209969delCA2663211235ABCB6,ATG9Ac.2499del (p.Asp834ThrfsTer?)
c.2361del (p.Asp788ThrfsTer?)
c.2042del
c.487del
c.5049del
n.766del
n.572del
n.2812del
 gnomAD v4
2g.219209969T>ACA350680834ABCB6,ATG9Ac.2498A>T (p.Glu833Val)
c.2360A>T (p.Glu787Val)
c.2041A>T
c.486A>T
c.5048A>T
n.765A>T
n.571A>T
n.2811A>T
2g.219209969T>CCA350680830ABCB6,ATG9Ac.2498A>G (p.Glu833Gly)
c.2360A>G (p.Glu787Gly)
c.2041A>G
c.486A>G
c.5048A>G
n.765A>G
n.571A>G
n.2811A>G
2g.219209969T>GCA350680829ABCB6,ATG9Ac.2498A>C (p.Glu833Ala)
c.2360A>C (p.Glu787Ala)
c.2041A>C
c.486A>C
c.5048A>C
n.765A>C
n.571A>C
n.2811A>C
2g.219209970C>ACA350680840ABCB6,ATG9Ac.2497G>T (p.Glu833Ter)
c.2359G>T (p.Glu787Ter)
c.2040G>T
c.485G>T
c.5047G>T
n.764G>T
n.570G>T
n.2810G>T
2g.219209970C>GCA350680836ABCB6,ATG9Ac.2497G>C (p.Glu833Gln)
c.2359G>C (p.Glu787Gln)
c.2040G>C
c.485G>C
c.5047G>C
n.764G>C
n.570G>C
n.2810G>C
2g.219209970C>TCA350680843ABCB6,ATG9Ac.2497G>A (p.Glu833Lys)
c.2359G>A (p.Glu787Lys)
c.2040G>A
c.485G>A
c.5047G>A
n.764G>A
n.570G>A
n.2810G>A
 gnomAD v4
2g.219209971A=CA1329111470ABCB6,ATG9Ac.2496T= (p.Ser832=)
c.2358T= (p.Ser786=)
c.2039T=
c.484T=
c.5046T=
n.763T=
n.569T=
n.2809T=
2g.219209971A>CCA431283530ABCB6,ATG9Ac.2496T>G (p.Ser832=)
c.2358T>G (p.Ser786=)
c.2039T>G
c.484T>G
c.5046T>G
n.763T>G
n.569T>G
n.2809T>G
2g.219209971A>GCA431283529ABCB6,ATG9Ac.2496T>C (p.Ser832=)
c.2358T>C (p.Ser786=)
c.2039T>C
c.484T>C
c.5046T>C
n.763T>C
n.569T>C
n.2809T>C
 dbSNP gnomAD v2 gnomAD v4
2g.219209971A>TCA431283527ABCB6,ATG9Ac.2496T>A (p.Ser832=)
c.2358T>A (p.Ser786=)
c.2039T>A
c.484T>A
c.5046T>A
n.763T>A
n.569T>A
n.2809T>A
2g.219209972G>ACA350680846ABCB6,ATG9Ac.2495C>T (p.Ser832Phe)
c.2357C>T (p.Ser786Phe)
c.2038C>T
c.483C>T
c.5045C>T
n.762C>T
n.568C>T
n.2808C>T
 dbSNP gnomAD v4
2g.219209972G>CCA350680850ABCB6,ATG9Ac.2495C>G (p.Ser832Cys)
c.2357C>G (p.Ser786Cys)
c.2038C>G
c.483C>G
c.5045C>G
n.762C>G
n.568C>G
n.2808C>G
2g.219209972G=CA1329111471ABCB6,ATG9Ac.2495C= (p.Ser832=)
c.2357C= (p.Ser786=)
c.2038C=
c.483C=
c.5045C=
n.762C=
n.568C=
n.2808C=
2g.219209972G>TCA350680849ABCB6,ATG9Ac.2495C>A (p.Ser832Tyr)
c.2357C>A (p.Ser786Tyr)
c.2038C>A
c.483C>A
c.5045C>A
n.762C>A
n.568C>A
n.2808C>A
2g.219209973A>CCA350680851ABCB6,ATG9Ac.2494T>G (p.Ser832Ala)
c.2356T>G (p.Ser786Ala)
c.2037T>G
c.482T>G
c.5044T>G
n.761T>G
n.567T>G
n.2807T>G
2g.219209973A>GCA350680864ABCB6,ATG9Ac.2494T>C (p.Ser832Pro)
c.2356T>C (p.Ser786Pro)
c.2037T>C
c.482T>C
c.5044T>C
n.761T>C
n.567T>C
n.2807T>C
2g.219209973A>TCA350680854ABCB6,ATG9Ac.2494T>A (p.Ser832Thr)
c.2356T>A (p.Ser786Thr)
c.2037T>A
c.482T>A
c.5044T>A
n.761T>A
n.567T>A
n.2807T>A
2g.219209974G>ACA431283533ABCB6,ATG9Ac.2493C>T (p.Thr831=)
c.2355C>T (p.Thr785=)
c.2036C>T
c.481C>T
c.5043C>T
n.760C>T
n.566C>T
n.2806C>T
2g.219209974G>CCA431283535ABCB6,ATG9Ac.2493C>G (p.Thr831=)
c.2355C>G (p.Thr785=)
c.2036C>G
c.481C>G
c.5043C>G
n.760C>G
n.566C>G
n.2806C>G
2g.219209974G>TCA431283534ABCB6,ATG9Ac.2493C>A (p.Thr831=)
c.2355C>A (p.Thr785=)
c.2036C>A
c.481C>A
c.5043C>A
n.760C>A
n.566C>A
n.2806C>A
2g.219209975G>ACA350680867ABCB6,ATG9Ac.2492C>T (p.Thr831Ile)
c.2354C>T (p.Thr785Ile)
c.2035C>T
c.480C>T
c.5042C>T
n.759C>T
n.565C>T
n.2805C>T
 dbSNP gnomAD v2 gnomAD v4
2g.219209975G>CCA350680872ABCB6,ATG9Ac.2492C>G (p.Thr831Ser)
c.2354C>G (p.Thr785Ser)
c.2035C>G
c.480C>G
c.5042C>G
n.759C>G
n.565C>G
n.2805C>G
2g.219209975G=CA1329111472ABCB6,ATG9Ac.2492C= (p.Thr831=)
c.2354C= (p.Thr785=)
c.2035C=
c.480C=
c.5042C=
n.759C=
n.565C=
n.2805C=
2g.219209975G>TCA350680877ABCB6,ATG9Ac.2492C>A (p.Thr831Asn)
c.2354C>A (p.Thr785Asn)
c.2035C>A
c.480C>A
c.5042C>A
n.759C>A
n.565C>A
n.2805C>A
2g.219209976T>ACA350680878ABCB6,ATG9Ac.2491A>T (p.Thr831Ser)
c.2353A>T (p.Thr785Ser)
c.2034A>T
c.479A>T
c.5041A>T
n.758A>T
n.564A>T
n.2804A>T
2g.219209976T>CCA350680879ABCB6,ATG9Ac.2491A>G (p.Thr831Ala)
c.2353A>G (p.Thr785Ala)
c.2034A>G
c.479A>G
c.5041A>G
n.758A>G
n.564A>G
n.2804A>G
2g.219209976T>GCA350680880ABCB6,ATG9Ac.2491A>C (p.Thr831Pro)
c.2353A>C (p.Thr785Pro)
c.2034A>C
c.479A>C
c.5041A>C
n.758A>C
n.564A>C
n.2804A>C
 dbSNP
2g.219209976T=CA1329111473ABCB6,ATG9Ac.2491A= (p.Thr831=)
c.2353A= (p.Thr785=)
c.2034A=
c.479A=
c.5041A=
n.758A=
n.564A=
n.2804A=
2g.219209977T>ACA350680881ABCB6,ATG9Ac.2490A>T (p.Glu830Asp)
c.2352A>T (p.Glu784Asp)
c.2033A>T
c.478A>T
c.5040A>T
n.757A>T
n.563A>T
n.2803A>T
2g.219209977T>CCA431283542ABCB6,ATG9Ac.2490A>G (p.Glu830=)
c.2352A>G (p.Glu784=)
c.2033A>G
c.478A>G
c.5040A>G
n.757A>G
n.563A>G
n.2803A>G
2g.219209977T>GCA350680882ABCB6,ATG9Ac.2490A>C (p.Glu830Asp)
c.2352A>C (p.Glu784Asp)
c.2033A>C
c.478A>C
c.5040A>C
n.757A>C
n.563A>C
n.2803A>C
2g.219209980_219209982delCA2663211246ABCB6,ATG9Ac.2488_2490del (p.Glu830del)
c.2350_2352del (p.Glu784del)
c.2031_2033del
c.476_478del
c.5038_5040del
n.755_757del
n.561_563del
n.2801_2803del
 gnomAD v4
2g.219209978T>ACA350680883ABCB6,ATG9Ac.2489A>T (p.Glu830Val)
c.2351A>T (p.Glu784Val)
c.2032A>T
c.477A>T
c.5039A>T
n.756A>T
n.562A>T
n.2802A>T
2g.219209978T>CCA350680885ABCB6,ATG9Ac.2489A>G (p.Glu830Gly)
c.2351A>G (p.Glu784Gly)
c.2032A>G
c.477A>G
c.5039A>G
n.756A>G
n.562A>G
n.2802A>G
2g.219209978T>GCA350680887ABCB6,ATG9Ac.2489A>C (p.Glu830Ala)
c.2351A>C (p.Glu784Ala)
c.2032A>C
c.477A>C
c.5039A>C
n.756A>C
n.562A>C
n.2802A>C
2g.219209979C>ACA350680904ABCB6,ATG9Ac.2488G>T (p.Glu830Ter)
c.2350G>T (p.Glu784Ter)
c.2031G>T
c.476G>T
c.5038G>T
n.755G>T
n.561G>T
n.2801G>T
2g.219209979C>GCA350680902ABCB6,ATG9Ac.2488G>C (p.Glu830Gln)
c.2350G>C (p.Glu784Gln)
c.2031G>C
c.476G>C
c.5038G>C
n.755G>C
n.561G>C
n.2801G>C
2g.219209979C>TCA350680891ABCB6,ATG9Ac.2488G>A (p.Glu830Lys)
c.2350G>A (p.Glu784Lys)
c.2031G>A
c.476G>A
c.5038G>A
n.755G>A
n.561G>A
n.2801G>A
2g.219209980T>ACA350680910ABCB6,ATG9Ac.2487A>T (p.Glu829Asp)
c.2349A>T (p.Glu783Asp)
c.2030A>T
c.475A>T
c.5037A>T
n.754A>T
n.560A>T
n.2800A>T
2g.219209980T>CCA65997405ABCB6,ATG9Ac.2487A>G (p.Glu829=)
c.2349A>G (p.Glu783=)
c.2030A>G
c.475A>G
c.5037A>G
n.754A>G
n.560A>G
n.2800A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.219209980T>GCA350680924ABCB6,ATG9Ac.2487A>C (p.Glu829Asp)
c.2349A>C (p.Glu783Asp)
c.2030A>C
c.475A>C
c.5037A>C
n.754A>C
n.560A>C
n.2800A>C
2g.219209980T=CA1329111474ABCB6,ATG9Ac.2487A= (p.Glu829=)
c.2349A= (p.Glu783=)
c.2030A=
c.475A=
c.5037A=
n.754A=
n.560A=
n.2800A=
2g.219209981T>ACA350680929ABCB6,ATG9Ac.2486A>T (p.Glu829Val)
c.2348A>T (p.Glu783Val)
c.2029A>T
c.474A>T
c.5036A>T
n.753A>T
n.559A>T
n.2799A>T
2g.219209981T>CCA350680933ABCB6,ATG9Ac.2486A>G (p.Glu829Gly)
c.2348A>G (p.Glu783Gly)
c.2029A>G
c.474A>G
c.5036A>G
n.753A>G
n.559A>G
n.2799A>G
 dbSNP
2g.219209981T>GCA350680937ABCB6,ATG9Ac.2486A>C (p.Glu829Ala)
c.2348A>C (p.Glu783Ala)
c.2029A>C
c.474A>C
c.5036A>C
n.753A>C
n.559A>C
n.2799A>C
2g.219209981T=CA1329111475ABCB6,ATG9Ac.2486A= (p.Glu829=)
c.2348A= (p.Glu783=)
c.2029A=
c.474A=
c.5036A=
n.753A=
n.559A=
n.2799A=
2g.219209982C>ACA350680942ABCB6,ATG9Ac.2485G>T (p.Glu829Ter)
c.2347G>T (p.Glu783Ter)
c.2028G>T
c.473G>T
c.5035G>T
n.752G>T
n.558G>T
n.2798G>T
2g.219209982C>GCA350680946ABCB6,ATG9Ac.2485G>C (p.Glu829Gln)
c.2347G>C (p.Glu783Gln)
c.2028G>C
c.473G>C
c.5035G>C
n.752G>C
n.558G>C
n.2798G>C
2g.219209982C>TCA350680947ABCB6,ATG9Ac.2485G>A (p.Glu829Lys)
c.2347G>A (p.Glu783Lys)
c.2028G>A
c.473G>A
c.5035G>A
n.752G>A
n.558G>A
n.2798G>A
 gnomAD v4
2g.219209983C>ACA350680948ABCB6,ATG9Ac.2484G>T (p.Gln828His)
c.2346G>T (p.Gln782His)
c.2027G>T
c.472G>T
c.5034G>T
n.751G>T
n.557G>T
n.2797G>T
2g.219209983C=CA1329111476ABCB6,ATG9Ac.2484G= (p.Gln828=)
c.2346G= (p.Gln782=)
c.2027G=
c.472G=
c.5034G=
n.751G=
n.557G=
n.2797G=
2g.219209983C>GCA350680949ABCB6,ATG9Ac.2484G>C (p.Gln828His)
c.2346G>C (p.Gln782His)
c.2027G>C
c.472G>C
c.5034G>C
n.751G>C
n.557G>C
n.2797G>C
2g.219209983C>TCA65997411ABCB6,ATG9Ac.2484G>A (p.Gln828=)
c.2346G>A (p.Gln782=)
c.2027G>A
c.472G>A
c.5034G>A
n.751G>A
n.557G>A
n.2797G>A
 dbSNP gnomAD v2 gnomAD v4
2g.219209984T>ACA350680954ABCB6,ATG9Ac.2483A>T (p.Gln828Leu)
c.2345A>T (p.Gln782Leu)
c.2026A>T
c.471A>T
c.5033A>T
n.750A>T
n.556A>T
n.2796A>T
2g.219209984T>CCA350680952ABCB6,ATG9Ac.2483A>G (p.Gln828Arg)
c.2345A>G (p.Gln782Arg)
c.2026A>G
c.471A>G
c.5033A>G
n.750A>G
n.556A>G
n.2796A>G
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
2g.219209984T>GCA350680950ABCB6,ATG9Ac.2483A>C (p.Gln828Pro)
c.2345A>C (p.Gln782Pro)
c.2026A>C
c.471A>C
c.5033A>C
n.750A>C
n.556A>C
n.2796A>C
2g.219209984T=CA1329111477ABCB6,ATG9Ac.2483A= (p.Gln828=)
c.2345A= (p.Gln782=)
c.2026A=
c.471A=
c.5033A=
n.750A=
n.556A=
n.2796A=
2g.219209985G>ACA350680961ABCB6,ATG9Ac.2482C>T (p.Gln828Ter)
c.2344C>T (p.Gln782Ter)
c.2025C>T
c.470C>T
c.5032C>T
n.749C>T
n.555C>T
n.2795C>T
2g.219209985G>CCA350680962ABCB6,ATG9Ac.2482C>G (p.Gln828Glu)
c.2344C>G (p.Gln782Glu)
c.2025C>G
c.470C>G
c.5032C>G
n.749C>G
n.555C>G
n.2795C>G
2g.219209985G>TCA350680963ABCB6,ATG9Ac.2482C>A (p.Gln828Lys)
c.2344C>A (p.Gln782Lys)
c.2025C>A
c.470C>A
c.5032C>A
n.749C>A
n.555C>A
n.2795C>A
2g.219209986T>ACA431283558ABCB6,ATG9Ac.2481A>T (p.Gly827=)
c.2343A>T (p.Gly781=)
c.2024A>T
c.469A>T
c.5031A>T
n.748A>T
n.554A>T
n.2794A>T
2g.219209986T>CCA431283559ABCB6,ATG9Ac.2481A>G (p.Gly827=)
c.2343A>G (p.Gly781=)
c.2024A>G
c.469A>G
c.5031A>G
n.748A>G
n.554A>G
n.2794A>G
 dbSNP
2g.219209986T>GCA431283560ABCB6,ATG9Ac.2481A>C (p.Gly827=)
c.2343A>C (p.Gly781=)
c.2024A>C
c.469A>C
c.5031A>C
n.748A>C
n.554A>C
n.2794A>C
2g.219209986T=CA1329111478ABCB6,ATG9Ac.2481A= (p.Gly827=)
c.2343A= (p.Gly781=)
c.2024A=
c.469A=
c.5031A=
n.748A=
n.554A=
n.2794A=
2g.219209987C>ACA350680964ABCB6,ATG9Ac.2480G>T (p.Gly827Val)
c.2342G>T (p.Gly781Val)
c.2023G>T
c.468G>T
c.5030G>T
n.747G>T
n.553G>T
n.2793G>T
2g.219209987C>GCA350680965ABCB6,ATG9Ac.2480G>C (p.Gly827Ala)
c.2342G>C (p.Gly781Ala)
c.2023G>C
c.468G>C
c.5030G>C
n.747G>C
n.553G>C
n.2793G>C
2g.219209987C>TCA350680966ABCB6,ATG9Ac.2480G>A (p.Gly827Glu)
c.2342G>A (p.Gly781Glu)
c.2023G>A
c.468G>A
c.5030G>A
n.747G>A
n.553G>A
n.2793G>A
 gnomAD v4
2g.219209989delCA2577297888ABCB6,ATG9Ac.2480del (p.Gly827AspfsTer?)
c.2342del (p.Gly781AspfsTer?)
c.2023del
c.468del
c.5030del
n.747del
n.553del
n.2793del
2g.219209988C>ACA350680971ABCB6,ATG9Ac.2479G>T (p.Gly827Ter)
c.2341G>T (p.Gly781Ter)
c.2022G>T
c.467G>T
c.5029G>T
n.746G>T
n.552G>T
n.2792G>T
2g.219209988C=CA1329111479ABCB6,ATG9Ac.2479G= (p.Gly827=)
c.2341G= (p.Gly781=)
c.2022G=
c.467G=
c.5029G=
n.746G=
n.552G=
n.2792G=
2g.219209988C>GCA350680968ABCB6,ATG9Ac.2479G>C (p.Gly827Arg)
c.2341G>C (p.Gly781Arg)
c.2022G>C
c.467G>C
c.5029G>C
n.746G>C
n.552G>C
n.2792G>C
2g.219209988C>TCA65997416ABCB6,ATG9Ac.2479G>A (p.Gly827Arg)
c.2341G>A (p.Gly781Arg)
c.2022G>A
c.467G>A
c.5029G>A
n.746G>A
n.552G>A
n.2792G>A
 ClinVar dbSNP gnomAD v4
2g.219209989C>ACA350680974ABCB6,ATG9Ac.2478G>T (p.Gln826His)
c.2340G>T (p.Gln780His)
c.2021G>T
c.466G>T
c.5028G>T
n.745G>T
n.551G>T
n.2791G>T
2g.219209989C>GCA350680975ABCB6,ATG9Ac.2478G>C (p.Gln826His)
c.2340G>C (p.Gln780His)
c.2021G>C
c.466G>C
c.5028G>C
n.745G>C
n.551G>C
n.2791G>C
2g.219209989C>TCA431283564ABCB6,ATG9Ac.2478G>A (p.Gln826=)
c.2340G>A (p.Gln780=)
c.2021G>A
c.466G>A
c.5028G>A
n.745G>A
n.551G>A
n.2791G>A
 gnomAD v4
2g.219209990T>ACA350680976ABCB6,ATG9Ac.2477A>T (p.Gln826Leu)
c.2339A>T (p.Gln780Leu)
c.2020A>T
c.465A>T
c.5027A>T
n.744A>T
n.550A>T
n.2790A>T
2g.219209990T>CCA350680977ABCB6,ATG9Ac.2477A>G (p.Gln826Arg)
c.2339A>G (p.Gln780Arg)
c.2020A>G
c.465A>G
c.5027A>G
n.744A>G
n.550A>G
n.2790A>G
2g.219209990T>GCA350680978ABCB6,ATG9Ac.2477A>C (p.Gln826Pro)
c.2339A>C (p.Gln780Pro)
c.2020A>C
c.465A>C
c.5027A>C
n.744A>C
n.550A>C
n.2790A>C
2g.219209991G>ACA350680979ABCB6,ATG9Ac.2476C>T (p.Gln826Ter)
c.2338C>T (p.Gln780Ter)
c.2019C>T
c.464C>T
c.5026C>T
n.743C>T
n.549C>T
n.2789C>T
2g.219209991G>CCA350680982ABCB6,ATG9Ac.2476C>G (p.Gln826Glu)
c.2338C>G (p.Gln780Glu)
c.2019C>G
c.464C>G
c.5026C>G
n.743C>G
n.549C>G
n.2789C>G
 dbSNP gnomAD v3 gnomAD v4
2g.219209991G=CA1329111480ABCB6,ATG9Ac.2476C= (p.Gln826=)
c.2338C= (p.Gln780=)
c.2019C=
c.464C=
c.5026C=
n.743C=
n.549C=
n.2789C=
2g.219209991G>TCA350680980ABCB6,ATG9Ac.2476C>A (p.Gln826Lys)
c.2338C>A (p.Gln780Lys)
c.2019C>A
c.464C>A
c.5026C>A
n.743C>A
n.549C>A
n.2789C>A
2g.219209992C>ACA350680984ABCB6,ATG9Ac.2475G>T (p.Gln825His)
c.2337G>T (p.Gln779His)
c.2018G>T
c.463G>T
c.5025G>T
n.742G>T
n.548G>T
n.2788G>T
 gnomAD v4
2g.219209992C>GCA350680988ABCB6,ATG9Ac.2475G>C (p.Gln825His)
c.2337G>C (p.Gln779His)
c.2018G>C
c.463G>C
c.5025G>C
n.742G>C
n.548G>C
n.2788G>C
 gnomAD v4
2g.219209992C>TCA431283569ABCB6,ATG9Ac.2475G>A (p.Gln825=)
c.2337G>A (p.Gln779=)
c.2018G>A
c.463G>A
c.5025G>A
n.742G>A
n.548G>A
n.2788G>A
2g.219209993T>ACA350680992ABCB6,ATG9Ac.2474A>T (p.Gln825Leu)
c.2336A>T (p.Gln779Leu)
c.2017A>T
c.462A>T
c.5024A>T
n.741A>T
n.547A>T
n.2787A>T
2g.219209993T>CCA350680994ABCB6,ATG9Ac.2474A>G (p.Gln825Arg)
c.2336A>G (p.Gln779Arg)
c.2017A>G
c.462A>G
c.5024A>G
n.741A>G
n.547A>G
n.2787A>G
2g.219209993T>GCA350681000ABCB6,ATG9Ac.2474A>C (p.Gln825Pro)
c.2336A>C (p.Gln779Pro)
c.2017A>C
c.462A>C
c.5024A>C
n.741A>C
n.547A>C
n.2787A>C
2g.219209994G>ACA350681005ABCB6,ATG9Ac.2473C>T (p.Gln825Ter)
c.2335C>T (p.Gln779Ter)
c.2016C>T
c.461C>T
c.5023C>T
n.740C>T
n.546C>T
n.2786C>T
2g.219209994G>CCA350681006ABCB6,ATG9Ac.2473C>G (p.Gln825Glu)
c.2335C>G (p.Gln779Glu)
c.2016C>G
c.461C>G
c.5023C>G
n.740C>G
n.546C>G
n.2786C>G
2g.219209994G>TCA350681007ABCB6,ATG9Ac.2473C>A (p.Gln825Lys)
c.2335C>A (p.Gln779Lys)
c.2016C>A
c.461C>A
c.5023C>A
n.740C>A
n.546C>A
n.2786C>A
 gnomAD v4
2g.219209995C>ACA431283571ABCB6,ATG9Ac.2472G>T (p.Leu824=)
c.2334G>T (p.Leu778=)
c.2015G>T
c.460G>T
c.5022G>T
n.739G>T
n.545G>T
n.2785G>T
2g.219209995C>GCA431283573ABCB6,ATG9Ac.2472G>C (p.Leu824=)
c.2334G>C (p.Leu778=)
c.2015G>C
c.460G>C
c.5022G>C
n.739G>C
n.545G>C
n.2785G>C
2g.219209995C>TCA431283572ABCB6,ATG9Ac.2472G>A (p.Leu824=)
c.2334G>A (p.Leu778=)
c.2015G>A
c.460G>A
c.5022G>A
n.739G>A
n.545G>A
n.2785G>A
2g.219209996A>CCA350681009ABCB6,ATG9Ac.2471T>G (p.Leu824Arg)
c.2333T>G (p.Leu778Arg)
c.2014T>G
c.459T>G
c.5021T>G
n.738T>G
n.544T>G
n.2784T>G
2g.219209996A>GCA350681011ABCB6,ATG9Ac.2471T>C (p.Leu824Pro)
c.2333T>C (p.Leu778Pro)
c.2014T>C
c.459T>C
c.5021T>C
n.738T>C
n.544T>C
n.2784T>C
2g.219209996A>TCA350681012ABCB6,ATG9Ac.2471T>A (p.Leu824Gln)
c.2333T>A (p.Leu778Gln)
c.2014T>A
c.459T>A
c.5021T>A
n.738T>A
n.544T>A
n.2784T>A
2g.219209997G>ACA431283577ABCB6,ATG9Ac.2470C>T (p.Leu824=)
c.2332C>T (p.Leu778=)
c.2013C>T
c.458C>T
c.5020C>T
n.737C>T
n.543C>T
n.2783C>T
2g.219209997G>CCA2118873ABCB6,ATG9Ac.2470C>G (p.Leu824Val)
c.2332C>G (p.Leu778Val)
c.2013C>G
c.458C>G
c.5020C>G
n.737C>G
n.543C>G
n.2783C>G
 dbSNP ExAC gnomAD v2
2g.219209997G=CA1329111481ABCB6,ATG9Ac.2470C= (p.Leu824=)
c.2332C= (p.Leu778=)
c.2013C=
c.458C=
c.5020C=
n.737C=
n.543C=
n.2783C=
2g.219209997G>TCA350681015ABCB6,ATG9Ac.2470C>A (p.Leu824Met)
c.2332C>A (p.Leu778Met)
c.2013C>A
c.458C>A
c.5020C>A
n.737C>A
n.543C>A
n.2783C>A
2g.219209998C>ACA350681028ABCB6,ATG9Ac.2469G>T (p.Gln823His)
c.2331G>T (p.Gln777His)
c.2012G>T
c.457G>T
c.5019G>T
n.736G>T
n.542G>T
n.2782G>T
 dbSNP gnomAD v4
2g.219209998C=CA1329111482ABCB6,ATG9Ac.2469G= (p.Gln823=)
c.2331G= (p.Gln777=)
c.2012G=
c.457G=
c.5019G=
n.736G=
n.542G=
n.2782G=
2g.219209998C>GCA350681038ABCB6,ATG9Ac.2469G>C (p.Gln823His)
c.2331G>C (p.Gln777His)
c.2012G>C
c.457G>C
c.5019G>C
n.736G>C
n.542G>C
n.2782G>C
 gnomAD v4
2g.219209998C>TCA431283578ABCB6,ATG9Ac.2469G>A (p.Gln823=)
c.2331G>A (p.Gln777=)
c.2012G>A
c.457G>A
c.5019G>A
n.736G>A
n.542G>A
n.2782G>A
2g.219209999T>ACA350681041ABCB6,ATG9Ac.2468A>T (p.Gln823Leu)
c.2330A>T (p.Gln777Leu)
c.2011A>T
c.456A>T
c.5018A>T
n.735A>T
n.541A>T
n.2781A>T
2g.219209999T>CCA350681045ABCB6,ATG9Ac.2468A>G (p.Gln823Arg)
c.2330A>G (p.Gln777Arg)
c.2011A>G
c.456A>G
c.5018A>G
n.735A>G
n.541A>G
n.2781A>G
2g.219209999T>GCA350681047ABCB6,ATG9Ac.2468A>C (p.Gln823Pro)
c.2330A>C (p.Gln777Pro)
c.2011A>C
c.456A>C
c.5018A>C
n.735A>C
n.541A>C
n.2781A>C
2g.219210000G>ACA350681050ABCB6,ATG9Ac.2467C>T (p.Gln823Ter)
c.2329C>T (p.Gln777Ter)
c.2010C>T
c.455C>T
c.5017C>T
n.734C>T
n.540C>T
n.2780C>T
2g.219210000G>CCA350681063ABCB6,ATG9Ac.2467C>G (p.Gln823Glu)
c.2329C>G (p.Gln777Glu)
c.2010C>G
c.455C>G
c.5017C>G
n.734C>G
n.540C>G
n.2780C>G
2g.219210000G>TCA350681064ABCB6,ATG9Ac.2467C>A (p.Gln823Lys)
c.2329C>A (p.Gln777Lys)
c.2010C>A
c.455C>A
c.5017C>A
n.734C>A
n.540C>A
n.2780C>A
2g.219210001C>ACA350681069ABCB6,ATG9Ac.2466G>T (p.Trp822Cys)
c.2328G>T (p.Trp776Cys)
c.2009G>T
c.454G>T
c.5016G>T
n.733G>T
n.539G>T
n.2779G>T
2g.219210001C>GCA350681070ABCB6,ATG9Ac.2466G>C (p.Trp822Cys)
c.2328G>C (p.Trp776Cys)
c.2009G>C
c.454G>C
c.5016G>C
n.733G>C
n.539G>C
n.2779G>C
2g.219210001C>TCA350681071ABCB6,ATG9Ac.2466G>A (p.Trp822Ter)
c.2328G>A (p.Trp776Ter)
c.2009G>A
c.454G>A
c.5016G>A
n.733G>A
n.539G>A
n.2779G>A
 COSMIC COSMIC
2g.219210002C>ACA2118874ABCB6,ATG9Ac.2465G>T (p.Trp822Leu)
c.2327G>T (p.Trp776Leu)
c.2008G>T
c.453G>T
c.5015G>T
n.732G>T
n.538G>T
n.2778G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.219210002C=CA1329111483ABCB6,ATG9Ac.2465G= (p.Trp822=)
c.2327G= (p.Trp776=)
c.2008G=
c.453G=
c.5015G=
n.732G=
n.538G=
n.2778G=
2g.219210002C>GCA350681072ABCB6,ATG9Ac.2465G>C (p.Trp822Ser)
c.2327G>C (p.Trp776Ser)
c.2008G>C
c.453G>C
c.5015G>C
n.732G>C
n.538G>C
n.2778G>C
2g.219210002C>TCA65997429ABCB6,ATG9Ac.2465G>A (p.Trp822Ter)
c.2327G>A (p.Trp776Ter)
c.2008G>A
c.453G>A
c.5015G>A
n.732G>A
n.538G>A
n.2778G>A
 dbSNP gnomAD v3 gnomAD v4
2g.219210003A>CCA350681085ABCB6,ATG9Ac.2464T>G (p.Trp822Gly)
c.2326T>G (p.Trp776Gly)
c.2007T>G
c.452T>G
c.5014T>G
n.731T>G
n.537T>G
n.2777T>G
2g.219210003A>GCA350681075ABCB6,ATG9Ac.2464T>C (p.Trp822Arg)
c.2326T>C (p.Trp776Arg)
c.2007T>C
c.452T>C
c.5014T>C
n.731T>C
n.537T>C
n.2777T>C
2g.219210003A>TCA350681081ABCB6,ATG9Ac.2464T>A (p.Trp822Arg)
c.2326T>A (p.Trp776Arg)
c.2007T>A
c.452T>A
c.5014T>A
n.731T>A
n.537T>A
n.2777T>A
2g.219210004C>ACA350681088ABCB6,ATG9Ac.2463G>T (p.Met821Ile)
c.2325G>T (p.Met775Ile)
c.2006G>T
c.451G>T
c.5013G>T
n.730G>T
n.536G>T
n.2776G>T
2g.219210004C=CA1329111484ABCB6,ATG9Ac.2463G= (p.Met821=)
c.2325G= (p.Met775=)
c.2006G=
c.451G=
c.5013G=
n.730G=
n.536G=
n.2776G=
2g.219210004C>GCA350681089ABCB6,ATG9Ac.2463G>C (p.Met821Ile)
c.2325G>C (p.Met775Ile)
c.2006G>C
c.451G>C
c.5013G>C
n.730G>C
n.536G>C
n.2776G>C
2g.219210004C>TCA2118876ABCB6,ATG9Ac.2463G>A (p.Met821Ile)
c.2325G>A (p.Met775Ile)
c.2006G>A
c.451G>A
c.5013G>A
n.730G>A
n.536G>A
n.2776G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.219210004_219210006delinsCATCA1329111485ABCB6,ATG9Ac.2461_2463delinsATG (p.Met821=)
c.2323_2325delinsATG (p.Met775=)
c.2004_2006delinsATG
c.449_451delinsATG
c.5011_5013delinsATG
n.728_730delinsATG
n.534_536delinsATG
n.2774_2776delinsATG
2g.219210005A=CA1329111486ABCB6,ATG9Ac.2462T= (p.Met821=)
c.2324T= (p.Met775=)
c.2005T=
c.450T=
c.5012T=
n.729T=
n.535T=
n.2775T=
2g.219210005A>CCA350681090ABCB6,ATG9Ac.2462T>G (p.Met821Arg)
c.2324T>G (p.Met775Arg)
c.2005T>G
c.450T>G
c.5012T>G
n.729T>G
n.535T>G
n.2775T>G
2g.219210005A>GCA350681091ABCB6,ATG9Ac.2462T>C (p.Met821Thr)
c.2324T>C (p.Met775Thr)
c.2005T>C
c.450T>C
c.5012T>C
n.729T>C
n.535T>C
n.2775T>C
 dbSNP
2g.219210005A>TCA350681092ABCB6,ATG9Ac.2462T>A (p.Met821Lys)
c.2324T>A (p.Met775Lys)
c.2005T>A
c.450T>A
c.5012T>A
n.729T>A
n.535T>A
n.2775T>A
 dbSNP gnomAD v2 gnomAD v4
2g.219210005_219210006delCA2118875ABCB6,ATG9Ac.2461_2462del (p.Met821ValfsTer12)
c.2323_2324del (p.Met775ValfsTer12)
c.2004_2005del
c.449_450del
c.5011_5012del
n.728_729del
n.534_535del
n.2774_2775del
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.219210006T>ACA350681095ABCB6,ATG9Ac.2461A>T (p.Met821Leu)
c.2323A>T (p.Met775Leu)
c.2004A>T
c.449A>T
c.5011A>T
n.728A>T
n.534A>T
n.2774A>T
2g.219210006T>CCA350681096ABCB6,ATG9Ac.2461A>G (p.Met821Val)
c.2323A>G (p.Met775Val)
c.2004A>G
c.449A>G
c.5011A>G
n.728A>G
n.534A>G
n.2774A>G
2g.219210006T>GCA350681099ABCB6,ATG9Ac.2461A>C (p.Met821Leu)
c.2323A>C (p.Met775Leu)
c.2004A>C
c.449A>C
c.5011A>C
n.728A>C
n.534A>C
n.2774A>C
2g.219210007delCA2663211259ABCB6,ATG9Ac.2460del (p.Asp820GlufsTer?)
c.2322del (p.Asp774GlufsTer?)
c.2003del
c.448del
c.5010del
n.727del
n.533del
n.2773del
 gnomAD v4
2g.219210007G>ACA431283589ABCB6,ATG9Ac.2460C>T (p.Asp820=)
c.2322C>T (p.Asp774=)
c.2003C>T
c.448C>T
c.5010C>T
n.727C>T
n.533C>T
n.2773C>T
 gnomAD v4
2g.219210007G>CCA350681100ABCB6,ATG9Ac.2460C>G (p.Asp820Glu)
c.2322C>G (p.Asp774Glu)
c.2003C>G
c.448C>G
c.5010C>G
n.727C>G
n.533C>G
n.2773C>G
2g.219210007G>TCA350681103ABCB6,ATG9Ac.2460C>A (p.Asp820Glu)
c.2322C>A (p.Asp774Glu)
c.2003C>A
c.448C>A
c.5010C>A
n.727C>A
n.533C>A
n.2773C>A
 gnomAD v4
2g.219210008T>ACA350681125ABCB6,ATG9Ac.2459A>T (p.Asp820Val)
c.2321A>T (p.Asp774Val)
c.2002A>T
c.447A>T
c.5009A>T
n.726A>T
n.532A>T
n.2772A>T
2g.219210008T>CCA350681112ABCB6,ATG9Ac.2459A>G (p.Asp820Gly)
c.2321A>G (p.Asp774Gly)
c.2002A>G
c.447A>G
c.5009A>G
n.726A>G
n.532A>G
n.2772A>G
 gnomAD v4
2g.219210008T>GCA350681109ABCB6,ATG9Ac.2459A>C (p.Asp820Ala)
c.2321A>C (p.Asp774Ala)
c.2002A>C
c.447A>C
c.5009A>C
n.726A>C
n.532A>C
n.2772A>C
2g.219210009C>ACA350681133ABCB6,ATG9Ac.2458G>T (p.Asp820Tyr)
c.2320G>T (p.Asp774Tyr)
c.2001G>T
c.446G>T
c.5008G>T
n.725G>T
n.531G>T
n.2771G>T
2g.219210009C=CA1329111487ABCB6,ATG9Ac.2458G= (p.Asp820=)
c.2320G= (p.Asp774=)
c.2001G=
c.446G=
c.5008G=
n.725G=
n.531G=
n.2771G=
2g.219210009C>GCA350681127ABCB6,ATG9Ac.2458G>C (p.Asp820His)
c.2320G>C (p.Asp774His)
c.2001G>C
c.446G>C
c.5008G>C
n.725G>C
n.531G>C
n.2771G>C
 dbSNP gnomAD v4
2g.219210009C>TCA350681130ABCB6,ATG9Ac.2458G>A (p.Asp820Asn)
c.2320G>A (p.Asp774Asn)
c.2001G>A
c.446G>A
c.5008G>A
n.725G>A
n.531G>A
n.2771G>A
2g.219210010A>CCA431283597ABCB6,ATG9Ac.2457T>G (p.Ala819=)
c.2319T>G (p.Ala773=)
c.2000T>G
c.445T>G
c.5007T>G
n.724T>G
n.530T>G
n.2770T>G
2g.219210010A>GCA431283595ABCB6,ATG9Ac.2457T>C (p.Ala819=)
c.2319T>C (p.Ala773=)
c.2000T>C
c.445T>C
c.5007T>C
n.724T>C
n.530T>C
n.2770T>C
2g.219210010A>TCA431283596ABCB6,ATG9Ac.2457T>A (p.Ala819=)
c.2319T>A (p.Ala773=)
c.2000T>A
c.445T>A
c.5007T>A
n.724T>A
n.530T>A
n.2770T>A
2g.219210011G>ACA350681135ABCB6,ATG9Ac.2456C>T (p.Ala819Val)
c.2318C>T (p.Ala773Val)
c.1999C>T
c.444C>T
c.5006C>T
n.723C>T
n.529C>T
n.2769C>T
 gnomAD v4
2g.219210011G>CCA350681136ABCB6,ATG9Ac.2456C>G (p.Ala819Gly)
c.2318C>G (p.Ala773Gly)
c.1999C>G
c.444C>G
c.5006C>G
n.723C>G
n.529C>G
n.2769C>G
2g.219210011G>TCA350681137ABCB6,ATG9Ac.2456C>A (p.Ala819Asp)
c.2318C>A (p.Ala773Asp)
c.1999C>A
c.444C>A
c.5006C>A
n.723C>A
n.529C>A
n.2769C>A
2g.219210012C>ACA350681138ABCB6,ATG9Ac.2455G>T (p.Ala819Ser)
c.2317G>T (p.Ala773Ser)
c.1998G>T
c.443G>T
c.5005G>T
n.722G>T
n.528G>T
n.2768G>T
2g.219210012C>GCA350681139ABCB6,ATG9Ac.2455G>C (p.Ala819Pro)
c.2317G>C (p.Ala773Pro)
c.1998G>C
c.443G>C
c.5005G>C
n.722G>C
n.528G>C
n.2768G>C
2g.219210012C>TCA350681141ABCB6,ATG9Ac.2455G>A (p.Ala819Thr)
c.2317G>A (p.Ala773Thr)
c.1998G>A
c.443G>A
c.5005G>A
n.722G>A
n.528G>A
n.2768G>A
2g.219210013A>CCA350681144ABCB6,ATG9Ac.2454T>G (p.Tyr818Ter)
c.2316T>G (p.Tyr772Ter)
c.1997T>G
c.442T>G
c.5004T>G
n.721T>G
n.527T>G
n.2767T>G
2g.219210013A>GCA431283601ABCB6,ATG9Ac.2454T>C (p.Tyr818=)
c.2316T>C (p.Tyr772=)
c.1997T>C
c.442T>C
c.5004T>C
n.721T>C
n.527T>C
n.2767T>C
2g.219210013A>TCA350681146ABCB6,ATG9Ac.2454T>A (p.Tyr818Ter)
c.2316T>A (p.Tyr772Ter)
c.1997T>A
c.442T>A
c.5004T>A
n.721T>A
n.527T>A
n.2767T>A
2g.219210014T>ACA350681151ABCB6,ATG9Ac.2453A>T (p.Tyr818Phe)
c.2315A>T (p.Tyr772Phe)
c.1996A>T
c.441A>T
c.5003A>T
n.720A>T
n.526A>T
n.2766A>T
2g.219210014T>CCA2118877ABCB6,ATG9Ac.2453A>G (p.Tyr818Cys)
c.2315A>G (p.Tyr772Cys)
c.1996A>G
c.441A>G
c.5003A>G
n.720A>G
n.526A>G
n.2766A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.219210014T>GCA350681160ABCB6,ATG9Ac.2453A>C (p.Tyr818Ser)
c.2315A>C (p.Tyr772Ser)
c.1996A>C
c.441A>C
c.5003A>C
n.720A>C
n.526A>C
n.2766A>C
2g.219210014T=CA1329111488ABCB6,ATG9Ac.2453A= (p.Tyr818=)
c.2315A= (p.Tyr772=)
c.1996A=
c.441A=
c.5003A=
n.720A=
n.526A=
n.2766A=
2g.219210015A=CA1329111489ABCB6,ATG9Ac.2452T= (p.Tyr818=)
c.2314T= (p.Tyr772=)
c.1995T=
c.440T=
c.5002T=
n.719T=
n.525T=
n.2765T=
2g.219210015A>CCA350681169ABCB6,ATG9Ac.2452T>G (p.Tyr818Asp)
c.2314T>G (p.Tyr772Asp)
c.1995T>G
c.440T>G
c.5002T>G
n.719T>G
n.525T>G
n.2765T>G
2g.219210015A>GCA65997458ABCB6,ATG9Ac.2452T>C (p.Tyr818His)
c.2314T>C (p.Tyr772His)
c.1995T>C
c.440T>C
c.5002T>C
n.719T>C
n.525T>C
n.2765T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.219210015A>TCA350681165ABCB6,ATG9Ac.2452T>A (p.Tyr818Asn)
c.2314T>A (p.Tyr772Asn)
c.1995T>A
c.440T>A
c.5002T>A
n.719T>A
n.525T>A
n.2765T>A
2g.219210016delCA2663211260ABCB6,ATG9Ac.2451del (p.Tyr818MetfsTer?)
c.2313del (p.Tyr772MetfsTer?)
c.1994del
c.439del
c.5001del
n.718del
n.524del
n.2764del
 gnomAD v4
2g.219210016C>ACA431283609ABCB6,ATG9Ac.2451G>T (p.Val817=)
c.2313G>T (p.Val771=)
c.1994G>T
c.439G>T
c.5001G>T
n.718G>T
n.524G>T
n.2764G>T
2g.219210016C=CA1329111490ABCB6,ATG9Ac.2451G= (p.Val817=)
c.2313G= (p.Val771=)
c.1994G=
c.439G=
c.5001G=
n.718G=
n.524G=
n.2764G=
2g.219210016C>GCA431283613ABCB6,ATG9Ac.2451G>C (p.Val817=)
c.2313G>C (p.Val771=)
c.1994G>C
c.439G>C
c.5001G>C
n.718G>C
n.524G>C
n.2764G>C
2g.219210016C>TCA431283611ABCB6,ATG9Ac.2451G>A (p.Val817=)
c.2313G>A (p.Val771=)
c.1994G>A
c.439G>A
c.5001G>A
n.718G>A
n.524G>A
n.2764G>A
 dbSNP gnomAD v4
2g.219210017A=CA1329111491ABCB6,ATG9Ac.2450T= (p.Val817=)
c.2312T= (p.Val771=)
c.1993T=
c.438T=
c.5000T=
n.717T=
n.523T=
n.2763T=
2g.219210017A>CCA350681172ABCB6,ATG9Ac.2450T>G (p.Val817Gly)
c.2312T>G (p.Val771Gly)
c.1993T>G
c.438T>G
c.5000T>G
n.717T>G
n.523T>G
n.2763T>G
 gnomAD v4
2g.219210017A>GCA65997460ABCB6,ATG9Ac.2450T>C (p.Val817Ala)
c.2312T>C (p.Val771Ala)
c.1993T>C
c.438T>C
c.5000T>C
n.717T>C
n.523T>C
n.2763T>C
 dbSNP
2g.219210017A>TCA350681181ABCB6,ATG9Ac.2450T>A (p.Val817Glu)
c.2312T>A (p.Val771Glu)
c.1993T>A
c.438T>A
c.5000T>A
n.717T>A
n.523T>A
n.2763T>A
2g.219210018C>ACA2118878ABCB6,ATG9Ac.2449G>T (p.Val817Leu)
c.2311G>T (p.Val771Leu)
c.1992G>T
c.437G>T
c.4999G>T
n.716G>T
n.522G>T
n.2762G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.219210018C=CA1329111492ABCB6,ATG9Ac.2449G= (p.Val817=)
c.2311G= (p.Val771=)
c.1992G=
c.437G=
c.4999G=
n.716G=
n.522G=
n.2762G=
2g.219210018C>GCA350681184ABCB6,ATG9Ac.2449G>C (p.Val817Leu)
c.2311G>C (p.Val771Leu)
c.1992G>C
c.437G>C
c.4999G>C
n.716G>C
n.522G>C
n.2762G>C
2g.219210018C>TCA2118879ABCB6,ATG9Ac.2449G>A (p.Val817Met)
c.2311G>A (p.Val771Met)
c.1992G>A
c.437G>A
c.4999G>A
n.716G>A
n.522G>A
n.2762G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.219210019C>ACA431283620ABCB6,ATG9Ac.2448G>T (p.Gly816=)
c.2310G>T (p.Gly770=)
c.1991G>T
c.436G>T
c.4998G>T
n.715G>T
n.521G>T
n.2761G>T
2g.219210019C=CA1329111493ABCB6,ATG9Ac.2448G= (p.Gly816=)
c.2310G= (p.Gly770=)
c.1991G=
c.436G=
c.4998G=
n.715G=
n.521G=
n.2761G=
2g.219210019C>GCA65997488ABCB6,ATG9Ac.2448G>C (p.Gly816=)
c.2310G>C (p.Gly770=)
c.1991G>C
c.436G>C
c.4998G>C
n.715G>C
n.521G>C
n.2761G>C
 dbSNP gnomAD v4
2g.219210019C>TCA431283621ABCB6,ATG9Ac.2448G>A (p.Gly816=)
c.2310G>A (p.Gly770=)
c.1991G>A
c.436G>A
c.4998G>A
n.715G>A
n.521G>A
n.2761G>A
2g.219210020C>ACA350681185ABCB6,ATG9Ac.2447G>T (p.Gly816Val)
c.2309G>T (p.Gly770Val)
c.1990G>T
c.435G>T
c.4997G>T
n.714G>T
n.520G>T
n.2760G>T
2g.219210020C>GCA350681186ABCB6,ATG9Ac.2447G>C (p.Gly816Ala)
c.2309G>C (p.Gly770Ala)
c.1990G>C
c.435G>C
c.4997G>C
n.714G>C
n.520G>C
n.2760G>C
2g.219210020C>TCA350681187ABCB6,ATG9Ac.2447G>A (p.Gly816Glu)
c.2309G>A (p.Gly770Glu)
c.1990G>A
c.435G>A
c.4997G>A
n.714G>A
n.520G>A
n.2760G>A
 COSMIC COSMIC
2g.219210021C>ACA350681189ABCB6,ATG9Ac.2446G>T (p.Gly816Trp)
c.2308G>T (p.Gly770Trp)
c.1989G>T
c.434G>T
c.4996G>T
n.713G>T
n.519G>T
n.2759G>T
2g.219210021C=CA1329111494ABCB6,ATG9Ac.2446G= (p.Gly816=)
c.2308G= (p.Gly770=)
c.1989G=
c.434G=
c.4996G=
n.713G=
n.519G=
n.2759G=
2g.219210021C>GCA350681190ABCB6,ATG9Ac.2446G>C (p.Gly816Arg)
c.2308G>C (p.Gly770Arg)
c.1989G>C
c.434G>C
c.4996G>C
n.713G>C
n.519G>C
n.2759G>C
2g.219210021C>TCA350681193ABCB6,ATG9Ac.2446G>A (p.Gly816Arg)
c.2308G>A (p.Gly770Arg)
c.1989G>A
c.434G>A
c.4996G>A
n.713G>A
n.519G>A
n.2759G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.219210022A=CA1329111495ABCB6,ATG9Ac.2445T= (p.Gly815=)
c.2307T= (p.Gly769=)
c.1988T=
c.433T=
c.4995T=
n.712T=
n.518T=
n.2758T=
2g.219210022A>CCA431283625ABCB6,ATG9Ac.2445T>G (p.Gly815=)
c.2307T>G (p.Gly769=)
c.1988T>G
c.433T>G
c.4995T>G
n.712T>G
n.518T>G
n.2758T>G
 dbSNP
2g.219210022A>GCA431283626ABCB6,ATG9Ac.2445T>C (p.Gly815=)
c.2307T>C (p.Gly769=)
c.1988T>C
c.433T>C
c.4995T>C
n.712T>C
n.518T>C
n.2758T>C
2g.219210022A>TCA431283627ABCB6,ATG9Ac.2445T>A (p.Gly815=)
c.2307T>A (p.Gly769=)
c.1988T>A
c.433T>A
c.4995T>A
n.712T>A
n.518T>A
n.2758T>A
2g.219210023C>ACA350681198ABCB6,ATG9Ac.2444G>T (p.Gly815Val)
c.2306G>T (p.Gly769Val)
c.1987G>T
c.432G>T
c.4994G>T
n.711G>T
n.517G>T
n.2757G>T
2g.219210023C>GCA350681202ABCB6,ATG9Ac.2444G>C (p.Gly815Ala)
c.2306G>C (p.Gly769Ala)
c.1987G>C
c.432G>C
c.4994G>C
n.711G>C
n.517G>C
n.2757G>C
2g.219210023C>TCA350681197ABCB6,ATG9Ac.2444G>A (p.Gly815Asp)
c.2306G>A (p.Gly769Asp)
c.1987G>A
c.432G>A
c.4994G>A
n.711G>A
n.517G>A
n.2757G>A
2g.219210024C>ACA2118880ABCB6,ATG9Ac.2443G>T (p.Gly815Cys)
c.2305G>T (p.Gly769Cys)
c.1986G>T
c.431G>T
c.4993G>T
n.710G>T
n.516G>T
n.2756G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.219210024C=CA1329111496ABCB6,ATG9Ac.2443G= (p.Gly815=)
c.2305G= (p.Gly769=)
c.1986G=
c.431G=
c.4993G=
n.710G=
n.516G=
n.2756G=
2g.219210024C>GCA350681208ABCB6,ATG9Ac.2443G>C (p.Gly815Arg)
c.2305G>C (p.Gly769Arg)
c.1986G>C
c.431G>C
c.4993G>C
n.710G>C
n.516G>C
n.2756G>C
2g.219210024C>TCA350681207ABCB6,ATG9Ac.2443G>A (p.Gly815Ser)
c.2305G>A (p.Gly769Ser)
c.1986G>A
c.431G>A
c.4993G>A
n.710G>A
n.516G>A
n.2756G>A
2g.219210025T>ACA431283634ABCB6,ATG9Ac.2442A>T (p.Arg814=)
c.2304A>T (p.Arg768=)
c.1985A>T
c.430A>T
c.4992A>T
n.709A>T
n.515A>T
n.2755A>T
2g.219210025T>CCA431283635ABCB6,ATG9Ac.2442A>G (p.Arg814=)
c.2304A>G (p.Arg768=)
c.1985A>G
c.430A>G
c.4992A>G
n.709A>G
n.515A>G
n.2755A>G
2g.219210025T>GCA431283636ABCB6,ATG9Ac.2442A>C (p.Arg814=)
c.2304A>C (p.Arg768=)
c.1985A>C
c.430A>C
c.4992A>C
n.709A>C
n.515A>C
n.2755A>C
2g.219210026C>ACA350681210ABCB6,ATG9Ac.2441G>T (p.Arg814Leu)
c.2303G>T (p.Arg768Leu)
c.1984G>T
c.429G>T
c.4991G>T
n.708G>T
n.514G>T
n.2754G>T
2g.219210026C=CA1329111497ABCB6,ATG9Ac.2441G= (p.Arg814=)
c.2303G= (p.Arg768=)
c.1984G=
c.429G=
c.4991G=
n.708G=
n.514G=
n.2754G=
2g.219210026C>GCA350681215ABCB6,ATG9Ac.2441G>C (p.Arg814Pro)
c.2303G>C (p.Arg768Pro)
c.1984G>C
c.429G>C
c.4991G>C
n.708G>C
n.514G>C
n.2754G>C
2g.219210026C>TCA65997490ABCB6,ATG9Ac.2441G>A (p.Arg814Gln)
c.2303G>A (p.Arg768Gln)
c.1984G>A
c.429G>A
c.4991G>A
n.708G>A
n.514G>A
n.2754G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.219210027G>ACA2118881ABCB6,ATG9Ac.2440C>T (p.Arg814Ter)
c.2302C>T (p.Arg768Ter)
c.1983C>T
c.428C>T
c.4990C>T
n.707C>T
n.513C>T
n.2753C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.219210027G>CCA2118882ABCB6,ATG9Ac.2440C>G (p.Arg814Gly)
c.2302C>G (p.Arg768Gly)
c.1983C>G
c.428C>G
c.4990C>G
n.707C>G
n.513C>G
n.2753C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.219210027G=CA1329111498ABCB6,ATG9Ac.2440C= (p.Arg814=)
c.2302C= (p.Arg768=)
c.1983C=
c.428C=
c.4990C=
n.707C=
n.513C=
n.2753C=
2g.219210027G>TCA431283643ABCB6,ATG9Ac.2440C>A (p.Arg814=)
c.2302C>A (p.Arg768=)
c.1983C>A
c.428C>A
c.4990C>A
n.707C>A
n.513C>A
n.2753C>A
2g.219210028G>ACA431283646ABCB6,ATG9Ac.2439C>T (p.Ser813=)
c.2301C>T (p.Ser767=)
c.1982C>T
c.427C>T
c.4989C>T
n.706C>T
n.512C>T
n.2752C>T
 gnomAD v4
2g.219210028G>CCA431283648ABCB6,ATG9Ac.2439C>G (p.Ser813=)
c.2301C>G (p.Ser767=)
c.1982C>G
c.427C>G
c.4989C>G
n.706C>G
n.512C>G
n.2752C>G
2g.219210028G>TCA431283649ABCB6,ATG9Ac.2439C>A (p.Ser813=)
c.2301C>A (p.Ser767=)
c.1982C>A
c.427C>A
c.4989C>A
n.706C>A
n.512C>A
n.2752C>A
2g.219210029G>ACA350681228ABCB6,ATG9Ac.2438C>T (p.Ser813Phe)
c.2300C>T (p.Ser767Phe)
c.1981C>T
c.426C>T
c.4988C>T
n.705C>T
n.511C>T
n.2751C>T
 dbSNP
2g.219210029G>CCA350681230ABCB6,ATG9Ac.2438C>G (p.Ser813Cys)
c.2300C>G (p.Ser767Cys)
c.1981C>G
c.426C>G
c.4988C>G
n.705C>G
n.511C>G
n.2751C>G
2g.219210029G>TCA350681235ABCB6,ATG9Ac.2438C>A (p.Ser813Tyr)
c.2300C>A (p.Ser767Tyr)
c.1981C>A
c.426C>A
c.4988C>A
n.705C>A
n.511C>A
n.2751C>A
 gnomAD v4
2g.219210030A>CCA350681249ABCB6,ATG9Ac.2437T>G (p.Ser813Ala)
c.2299T>G (p.Ser767Ala)
c.1980T>G
c.425T>G
c.4987T>G
n.704T>G
n.510T>G
n.2750T>G
2g.219210030A>GCA350681251ABCB6,ATG9Ac.2437T>C (p.Ser813Pro)
c.2299T>C (p.Ser767Pro)
c.1980T>C
c.425T>C
c.4987T>C
n.704T>C
n.510T>C
n.2750T>C
2g.219210030A>TCA350681254ABCB6,ATG9Ac.2437T>A (p.Ser813Thr)
c.2299T>A (p.Ser767Thr)
c.1980T>A
c.425T>A
c.4987T>A
n.704T>A
n.510T>A
n.2750T>A
2g.219210031C>ACA350681255ABCB6,ATG9Ac.2436G>T (p.Leu812Phe)
c.2298G>T (p.Leu766Phe)
c.1979G>T
c.424G>T
c.4986G>T
n.703G>T
n.509G>T
n.2749G>T
 COSMIC COSMIC
2g.219210031C=CA1329111499ABCB6,ATG9Ac.2436G= (p.Leu812=)
c.2298G= (p.Leu766=)
c.1979G=
c.424G=
c.4986G=
n.703G=
n.509G=
n.2749G=
2g.219210031C>GCA350681256ABCB6,ATG9Ac.2436G>C (p.Leu812Phe)
c.2298G>C (p.Leu766Phe)
c.1979G>C
c.424G>C
c.4986G>C
n.703G>C
n.509G>C
n.2749G>C
2g.219210031C>TCA2118883ABCB6,ATG9Ac.2436G>A (p.Leu812=)
c.2298G>A (p.Leu766=)
c.1979G>A
c.424G>A
c.4986G>A
n.703G>A
n.509G>A
n.2749G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.219210032A>CCA350681275ABCB6,ATG9Ac.2435T>G (p.Leu812Trp)
c.2297T>G (p.Leu766Trp)
c.1978T>G
c.423T>G
c.4985T>G
n.702T>G
n.508T>G
n.2748T>G
2g.219210032A>GCA350681273ABCB6,ATG9Ac.2435T>C (p.Leu812Ser)
c.2297T>C (p.Leu766Ser)
c.1978T>C
c.423T>C
c.4985T>C
n.702T>C
n.508T>C
n.2748T>C
2g.219210032A>TCA350681261ABCB6,ATG9Ac.2435T>A (p.Leu812Ter)
c.2297T>A (p.Leu766Ter)
c.1978T>A
c.423T>A
c.4985T>A
n.702T>A
n.508T>A
n.2748T>A
2g.219210033A=CA1329111500ABCB6,ATG9Ac.2434T= (p.Leu812=)
c.2296T= (p.Leu766=)
c.1977T=
c.422T=
c.4984T=
n.701T=
n.507T=
n.2747T=
2g.219210033A>CCA350681283ABCB6,ATG9Ac.2434T>G (p.Leu812Val)
c.2296T>G (p.Leu766Val)
c.1977T>G
c.422T>G
c.4984T>G
n.701T>G
n.507T>G
n.2747T>G
2g.219210033A>GCA65997514ABCB6,ATG9Ac.2434T>C (p.Leu812=)
c.2296T>C (p.Leu766=)
c.1977T>C
c.422T>C
c.4984T>C
n.701T>C
n.507T>C
n.2747T>C
 dbSNP gnomAD v4
2g.219210033A>TCA350681288ABCB6,ATG9Ac.2434T>A (p.Leu812Met)
c.2296T>A (p.Leu766Met)
c.1977T>A
c.422T>A
c.4984T>A
n.701T>A
n.507T>A
n.2747T>A
2g.219210034C>ACA431283655ABCB6,ATG9Ac.2433G>T (p.Leu811=)
c.2295G>T (p.Leu765=)
c.1976G>T
c.421G>T
c.4983G>T
n.700G>T
n.506G>T
n.2746G>T
2g.219210034C>GCA431283657ABCB6,ATG9Ac.2433G>C (p.Leu811=)
c.2295G>C (p.Leu765=)
c.1976G>C
c.421G>C
c.4983G>C
n.700G>C
n.506G>C
n.2746G>C
 gnomAD v4
2g.219210034C>TCA431283656ABCB6,ATG9Ac.2433G>A (p.Leu811=)
c.2295G>A (p.Leu765=)
c.1976G>A
c.421G>A
c.4983G>A
n.700G>A
n.506G>A
n.2746G>A
2g.219210035A>CCA350681289ABCB6,ATG9Ac.2432T>G (p.Leu811Arg)
c.2294T>G (p.Leu765Arg)
c.1975T>G
c.420T>G
c.4982T>G
n.699T>G
n.505T>G
n.2745T>G
2g.219210035A>GCA350681290ABCB6,ATG9Ac.2432T>C (p.Leu811Pro)
c.2294T>C (p.Leu765Pro)
c.1975T>C
c.420T>C
c.4982T>C
n.699T>C
n.505T>C
n.2745T>C
2g.219210035A>TCA350681291ABCB6,ATG9Ac.2432T>A (p.Leu811Gln)
c.2294T>A (p.Leu765Gln)
c.1975T>A
c.420T>A
c.4982T>A
n.699T>A
n.505T>A
n.2745T>A
2g.219210036G>ACA431283658ABCB6,ATG9Ac.2431C>T (p.Leu811=)
c.2293C>T (p.Leu765=)
c.1974C>T
c.419C>T
c.4981C>T
n.698C>T
n.504C>T
n.2744C>T
2g.219210036G>CCA129261ABCB6,ATG9Ac.2431C>G (p.Leu811Val)
c.2293C>G (p.Leu765Val)
c.1974C>G
c.419C>G
c.4981C>G
n.698C>G
n.504C>G
n.2744C>G
 ClinVar dbSNP
2g.219210036G=CA1329111501ABCB6,ATG9Ac.2431C= (p.Leu811=)
c.2293C= (p.Leu765=)
c.1974C=
c.419C=
c.4981C=
n.698C=
n.504C=
n.2744C=
2g.219210036G>TCA350681294ABCB6,ATG9Ac.2431C>A (p.Leu811Met)
c.2293C>A (p.Leu765Met)
c.1974C>A
c.419C>A
c.4981C>A
n.698C>A
n.504C>A
n.2744C>A
2g.219210037A>CCA431283659ABCB6,ATG9Ac.2430T>G (p.Ala810=)
c.2292T>G (p.Ala764=)
c.1973T>G
c.418T>G
c.4980T>G
n.697T>G
n.503T>G
n.2743T>G
2g.219210037A>GCA431283660ABCB6,ATG9Ac.2430T>C (p.Ala810=)
c.2292T>C (p.Ala764=)
c.1973T>C
c.418T>C
c.4980T>C
n.697T>C
n.503T>C
n.2743T>C
2g.219210037A>TCA431283661ABCB6,ATG9Ac.2430T>A (p.Ala810=)
c.2292T>A (p.Ala764=)
c.1973T>A
c.418T>A
c.4980T>A
n.697T>A
n.503T>A
n.2743T>A
 gnomAD v4
2g.219210038G>ACA2118884ABCB6,ATG9Ac.2429C>T (p.Ala810Val)
c.2291C>T (p.Ala764Val)
c.1972C>T
c.417C>T
c.4979C>T
n.696C>T
n.502C>T
n.2742C>T
 dbSNP ExAC gnomAD v3 gnomAD v4
2g.219210038G>CCA350681298ABCB6,ATG9Ac.2429C>G (p.Ala810Gly)
c.2291C>G (p.Ala764Gly)
c.1972C>G
c.417C>G
c.4979C>G
n.696C>G
n.502C>G
n.2742C>G
2g.219210038G=CA1329111502ABCB6,ATG9Ac.2429C= (p.Ala810=)
c.2291C= (p.Ala764=)
c.1972C=
c.417C=
c.4979C=
n.696C=
n.502C=
n.2742C=
2g.219210038G>TCA350681301ABCB6,ATG9Ac.2429C>A (p.Ala810Asp)
c.2291C>A (p.Ala764Asp)
c.1972C>A
c.417C>A
c.4979C>A
n.696C>A
n.502C>A
n.2742C>A
2g.219210039C>ACA350681309ABCB6,ATG9Ac.2428G>T (p.Ala810Ser)
c.2290G>T (p.Ala764Ser)
c.1971G>T
c.416G>T
c.4978G>T
n.695G>T
n.501G>T
n.2741G>T
2g.219210039C=CA1329111503ABCB6,ATG9Ac.2428G= (p.Ala810=)
c.2290G= (p.Ala764=)
c.1971G=
c.416G=
c.4978G=
n.695G=
n.501G=
n.2741G=
2g.219210039C>GCA350681308ABCB6,ATG9Ac.2428G>C (p.Ala810Pro)
c.2290G>C (p.Ala764Pro)
c.1971G>C
c.416G>C
c.4978G>C
n.695G>C
n.501G>C
n.2741G>C
 dbSNP gnomAD v2 gnomAD v4
2g.219210039C>TCA350681307ABCB6,ATG9Ac.2428G>A (p.Ala810Thr)
c.2290G>A (p.Ala764Thr)
c.1971G>A
c.416G>A
c.4978G>A
n.695G>A
n.501G>A
n.2741G>A
2g.219210040C>ACA350681311ABCB6,ATG9Ac.2427G>T (p.Glu809Asp)
c.2289G>T (p.Glu763Asp)
c.1970G>T
c.415G>T
c.4977G>T
n.694G>T
n.500G>T
n.2740G>T
2g.219210040C=CA1329111504ABCB6,ATG9Ac.2427G= (p.Glu809=)
c.2289G= (p.Glu763=)
c.1970G=
c.415G=
c.4977G=
n.694G=
n.500G=
n.2740G=
2g.219210040C>GCA350681314ABCB6,ATG9Ac.2427G>C (p.Glu809Asp)
c.2289G>C (p.Glu763Asp)
c.1970G>C
c.415G>C
c.4977G>C
n.694G>C
n.500G>C
n.2740G>C
2g.219210040C>TCA431283667ABCB6,ATG9Ac.2427G>A (p.Glu809=)
c.2289G>A (p.Glu763=)
c.1970G>A
c.415G>A
c.4977G>A
n.694G>A
n.500G>A
n.2740G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.219210041T>ACA350681319ABCB6,ATG9Ac.2426A>T (p.Glu809Val)
c.2288A>T (p.Glu763Val)
c.1969A>T
c.414A>T
c.4976A>T
n.693A>T
n.499A>T
n.2739A>T
2g.219210041T>CCA350681321ABCB6,ATG9Ac.2426A>G (p.Glu809Gly)
c.2288A>G (p.Glu763Gly)
c.1969A>G
c.414A>G
c.4976A>G
n.693A>G
n.499A>G
n.2739A>G
2g.219210041T>GCA350681323ABCB6,ATG9Ac.2426A>C (p.Glu809Ala)
c.2288A>C (p.Glu763Ala)
c.1969A>C
c.414A>C
c.4976A>C
n.693A>C
n.499A>C
n.2739A>C

Number of alleles fetched