Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.219209944T>A | CA350680659 | ABCB6,ATG9A | c.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 | |
2 | g.219209944T>C | CA431283490 | ABCB6,ATG9A | c.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 | |
2 | g.219209944T>G | CA350680671 | ABCB6,ATG9A | c.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 | |
2 | g.219209945T>A | CA350680672 | ABCB6,ATG9A | c.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 | |
2 | g.219209945T>C | CA350680673 | ABCB6,ATG9A | c.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 | |
2 | g.219209945T>G | CA350680676 | ABCB6,ATG9A | c.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 | |
2 | g.219209946C>A | CA350680678 | ABCB6,ATG9A | c.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 | |
2 | g.219209946C= | CA1329111455 | ABCB6,ATG9A | c.2521G= (p.Glu841=) c.2383G= (p.Glu795=) c.2064G= c.509G= c.5071G= n.788G= n.594G= n.2834G= | |
2 | g.219209946C>G | CA350680680 | ABCB6,ATG9A | c.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 | |
2 | g.219209946C>T | CA350680685 | ABCB6,ATG9A | c.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 |
2 | g.219209947C>A | CA350680687 | ABCB6,ATG9A | c.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 | |
2 | g.219209947C>G | CA350680689 | ABCB6,ATG9A | c.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 | |
2 | g.219209947C>T | CA350680697 | ABCB6,ATG9A | c.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 | |
2 | g.219209948A= | CA1329111456 | ABCB6,ATG9A | c.2519T= (p.Met840=) c.2381T= (p.Met794=) c.2062T= c.507T= c.5069T= n.786T= n.592T= n.2832T= | |
2 | g.219209948A>C | CA350680700 | ABCB6,ATG9A | c.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 | |
2 | g.219209948A>G | CA350680702 | ABCB6,ATG9A | c.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 |
2 | g.219209948A>T | CA350680705 | ABCB6,ATG9A | c.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 | |
2 | g.219209949T>A | CA350680710 | ABCB6,ATG9A | c.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 |
2 | g.219209949T>C | CA350680707 | ABCB6,ATG9A | c.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 | |
2 | g.219209949T>G | CA350680708 | ABCB6,ATG9A | c.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 | |
2 | g.219209950G>A | CA431283495 | ABCB6,ATG9A | c.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 | |
2 | g.219209950G>C | CA431283497 | ABCB6,ATG9A | c.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 | |
2 | g.219209950G>T | CA431283498 | ABCB6,ATG9A | c.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 | |
2 | g.219209951G>A | CA65997382 | ABCB6,ATG9A | c.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 |
2 | g.219209951G>C | CA350680715 | ABCB6,ATG9A | c.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 | |
2 | g.219209951G= | CA1329111457 | ABCB6,ATG9A | c.2516C= (p.Thr839=) c.2378C= (p.Thr793=) c.2059C= c.504C= c.5066C= n.783C= n.589C= n.2829C= | |
2 | g.219209951G>T | CA350680717 | ABCB6,ATG9A | c.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 | |
2 | g.219209952T>A | CA350680719 | ABCB6,ATG9A | c.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 | |
2 | g.219209952T>C | CA350680721 | ABCB6,ATG9A | c.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 | |
2 | g.219209952T>G | CA350680728 | ABCB6,ATG9A | c.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 | |
2 | g.219209953C>A | CA350680735 | ABCB6,ATG9A | c.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 | |
2 | g.219209953C= | CA1329111458 | ABCB6,ATG9A | c.2514G= (p.Gln838=) c.2376G= (p.Gln792=) c.2057G= c.502G= c.5064G= n.781G= n.587G= n.2827G= | |
2 | g.219209953C>G | CA350680737 | ABCB6,ATG9A | c.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 |
2 | g.219209953C>T | CA431283502 | ABCB6,ATG9A | c.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 | |
2 | g.219209954T>A | CA350680739 | ABCB6,ATG9A | c.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 |
2 | g.219209954T>C | CA350680741 | ABCB6,ATG9A | c.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 |
2 | g.219209954T>G | CA2118867 | ABCB6,ATG9A | c.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 |
2 | g.219209954T= | CA1329111459 | ABCB6,ATG9A | c.2513A= (p.Gln838=) c.2375A= (p.Gln792=) c.2056A= c.501A= c.5063A= n.780A= n.586A= n.2826A= | |
2 | g.219209955G>A | CA2118868 | ABCB6,ATG9A | c.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 |
2 | g.219209955G>C | CA350680755 | ABCB6,ATG9A | c.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 |
2 | g.219209955G= | CA1329111460 | ABCB6,ATG9A | c.2512C= (p.Gln838=) c.2374C= (p.Gln792=) c.2055C= c.500C= c.5062C= n.779C= n.585C= n.2825C= | |
2 | g.219209955G>T | CA350680744 | ABCB6,ATG9A | c.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 | |
2 | g.219209956A= | CA1329111461 | ABCB6,ATG9A | c.2511T= (p.Pro837=) c.2373T= (p.Pro791=) c.2054T= c.499T= c.5061T= n.778T= n.584T= n.2824T= | |
2 | g.219209956A>C | CA431283506 | ABCB6,ATG9A | c.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 | |
2 | g.219209956A>G | CA431283507 | ABCB6,ATG9A | c.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 |
2 | g.219209956A>T | CA431283508 | ABCB6,ATG9A | c.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 | |
2 | g.219209957G>A | CA2118869 | ABCB6,ATG9A | c.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 |
2 | g.219209957G>C | CA350680760 | ABCB6,ATG9A | c.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 | |
2 | g.219209957G= | CA1329111462 | ABCB6,ATG9A | c.2510C= (p.Pro837=) c.2372C= (p.Pro791=) c.2053C= c.498C= c.5060C= n.777C= n.583C= n.2823C= | |
2 | g.219209957G>T | CA350680763 | ABCB6,ATG9A | c.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 | |
2 | g.219209958G>A | CA350680767 | ABCB6,ATG9A | c.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 |
2 | g.219209958G>C | CA350680770 | ABCB6,ATG9A | c.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 | |
2 | g.219209958G>T | CA350680771 | ABCB6,ATG9A | c.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 | |
2 | g.219209958_219209966delinsGCTTAGTGT | CA1329111463 | ABCB6,ATG9A | c.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 | |
2 | g.219209959C>A | CA350680773 | ABCB6,ATG9A | c.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 | |
2 | g.219209959C>G | CA350680772 | ABCB6,ATG9A | c.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 | |
2 | g.219209959C>T | CA431283513 | ABCB6,ATG9A | c.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 | |
2 | g.219209962_219209969del | CA764954259 | ABCB6,ATG9A | c.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 |
2 | g.219209960T>A | CA350680774 | ABCB6,ATG9A | c.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 |
2 | g.219209960T>C | CA350680775 | ABCB6,ATG9A | c.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 | |
2 | g.219209960T>G | CA350680777 | ABCB6,ATG9A | c.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 | |
2 | g.219209961T>A | CA350680780 | ABCB6,ATG9A | c.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 | |
2 | g.219209961T>C | CA350680782 | ABCB6,ATG9A | c.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 | |
2 | g.219209961T>G | CA350680788 | ABCB6,ATG9A | c.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 | |
2 | g.219209962A= | CA1329111464 | ABCB6,ATG9A | c.2505T= (p.Thr835=) c.2367T= (p.Thr789=) c.2048T= c.493T= c.5055T= n.772T= n.578T= n.2818T= | |
2 | g.219209962A>C | CA65997392 | ABCB6,ATG9A | c.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 |
2 | g.219209962A>G | CA431283516 | ABCB6,ATG9A | c.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 | |
2 | g.219209962A>T | CA431283517 | ABCB6,ATG9A | c.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 | |
2 | g.219209963G>A | CA350680791 | ABCB6,ATG9A | c.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 |
2 | g.219209963G>C | CA350680797 | ABCB6,ATG9A | c.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 | |
2 | g.219209963G= | CA1329111465 | ABCB6,ATG9A | c.2504C= (p.Thr835=) c.2366C= (p.Thr789=) c.2047C= c.492C= c.5054C= n.771C= n.577C= n.2817C= | |
2 | g.219209963G>T | CA350680794 | ABCB6,ATG9A | c.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 | |
2 | g.219209963_219209969dup | CA539629574 | ABCB6,ATG9A | c.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 |
2 | g.219209964del | CA913089896 | ABCB6,ATG9A | c.2503del (p.Thr835LeufsTer?) c.2365del (p.Thr789LeufsTer?) c.2046del c.491del c.5053del n.770del n.576del n.2816del | |
2 | g.219209964T>A | CA350680799 | ABCB6,ATG9A | c.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 | |
2 | g.219209964T>C | CA2118870 | ABCB6,ATG9A | c.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 |
2 | g.219209964T>G | CA350680802 | ABCB6,ATG9A | c.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 | |
2 | g.219209964T= | CA1329111466 | ABCB6,ATG9A | c.2503A= (p.Thr835=) c.2365A= (p.Thr789=) c.2046A= c.491A= c.5053A= n.770A= n.576A= n.2816A= | |
2 | g.219209965G>A | CA431283519 | ABCB6,ATG9A | c.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 |
2 | g.219209965G>C | CA350680804 | ABCB6,ATG9A | c.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 | |
2 | g.219209965G>T | CA350680808 | ABCB6,ATG9A | c.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 | |
2 | g.219209966T>A | CA2118871 | ABCB6,ATG9A | c.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 |
2 | g.219209966T>C | CA350680817 | ABCB6,ATG9A | c.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 | |
2 | g.219209966T>G | CA350680821 | ABCB6,ATG9A | c.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 | |
2 | g.219209966T= | CA1329111467 | ABCB6,ATG9A | c.2501A= (p.Asp834=) c.2363A= (p.Asp788=) c.2044A= c.489A= c.5051A= n.768A= n.574A= n.2814A= | |
2 | g.219209967C>A | CA350680824 | ABCB6,ATG9A | c.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 | |
2 | g.219209967C= | CA1329111468 | ABCB6,ATG9A | c.2500G= (p.Asp834=) c.2362G= (p.Asp788=) c.2043G= c.488G= c.5050G= n.767G= n.573G= n.2813G= | |
2 | g.219209967C>G | CA350680825 | ABCB6,ATG9A | c.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 | |
2 | g.219209967C>T | CA2118872 | ABCB6,ATG9A | c.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 |
2 | g.219209968T>A | CA350680826 | ABCB6,ATG9A | c.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 | |
2 | g.219209968T>C | CA431283524 | ABCB6,ATG9A | c.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 | |
2 | g.219209968T>G | CA350680827 | ABCB6,ATG9A | c.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 |
2 | g.219209968T= | CA1329111469 | ABCB6,ATG9A | c.2499A= (p.Glu833=) c.2361A= (p.Glu787=) c.2042A= c.487A= c.5049A= n.766A= n.572A= n.2812A= | |
2 | g.219209969del | CA2663211235 | ABCB6,ATG9A | c.2499del (p.Asp834ThrfsTer?) c.2361del (p.Asp788ThrfsTer?) c.2042del c.487del c.5049del n.766del n.572del n.2812del | gnomAD v4 |
2 | g.219209969T>A | CA350680834 | ABCB6,ATG9A | c.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 | |
2 | g.219209969T>C | CA350680830 | ABCB6,ATG9A | c.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 | |
2 | g.219209969T>G | CA350680829 | ABCB6,ATG9A | c.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 | |
2 | g.219209970C>A | CA350680840 | ABCB6,ATG9A | c.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 | |
2 | g.219209970C>G | CA350680836 | ABCB6,ATG9A | c.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 | |
2 | g.219209970C>T | CA350680843 | ABCB6,ATG9A | c.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 |
2 | g.219209971A= | CA1329111470 | ABCB6,ATG9A | c.2496T= (p.Ser832=) c.2358T= (p.Ser786=) c.2039T= c.484T= c.5046T= n.763T= n.569T= n.2809T= | |
2 | g.219209971A>C | CA431283530 | ABCB6,ATG9A | c.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 | |
2 | g.219209971A>G | CA431283529 | ABCB6,ATG9A | c.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 |
2 | g.219209971A>T | CA431283527 | ABCB6,ATG9A | c.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 | |
2 | g.219209972G>A | CA350680846 | ABCB6,ATG9A | c.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 |
2 | g.219209972G>C | CA350680850 | ABCB6,ATG9A | c.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 | |
2 | g.219209972G= | CA1329111471 | ABCB6,ATG9A | c.2495C= (p.Ser832=) c.2357C= (p.Ser786=) c.2038C= c.483C= c.5045C= n.762C= n.568C= n.2808C= | |
2 | g.219209972G>T | CA350680849 | ABCB6,ATG9A | c.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 | |
2 | g.219209973A>C | CA350680851 | ABCB6,ATG9A | c.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 | |
2 | g.219209973A>G | CA350680864 | ABCB6,ATG9A | c.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 | |
2 | g.219209973A>T | CA350680854 | ABCB6,ATG9A | c.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 | |
2 | g.219209974G>A | CA431283533 | ABCB6,ATG9A | c.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 | |
2 | g.219209974G>C | CA431283535 | ABCB6,ATG9A | c.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 | |
2 | g.219209974G>T | CA431283534 | ABCB6,ATG9A | c.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 | |
2 | g.219209975G>A | CA350680867 | ABCB6,ATG9A | c.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 |
2 | g.219209975G>C | CA350680872 | ABCB6,ATG9A | c.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 | |
2 | g.219209975G= | CA1329111472 | ABCB6,ATG9A | c.2492C= (p.Thr831=) c.2354C= (p.Thr785=) c.2035C= c.480C= c.5042C= n.759C= n.565C= n.2805C= | |
2 | g.219209975G>T | CA350680877 | ABCB6,ATG9A | c.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 | |
2 | g.219209976T>A | CA350680878 | ABCB6,ATG9A | c.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 | |
2 | g.219209976T>C | CA350680879 | ABCB6,ATG9A | c.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 | |
2 | g.219209976T>G | CA350680880 | ABCB6,ATG9A | c.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 |
2 | g.219209976T= | CA1329111473 | ABCB6,ATG9A | c.2491A= (p.Thr831=) c.2353A= (p.Thr785=) c.2034A= c.479A= c.5041A= n.758A= n.564A= n.2804A= | |
2 | g.219209977T>A | CA350680881 | ABCB6,ATG9A | c.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 | |
2 | g.219209977T>C | CA431283542 | ABCB6,ATG9A | c.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 | |
2 | g.219209977T>G | CA350680882 | ABCB6,ATG9A | c.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 | |
2 | g.219209980_219209982del | CA2663211246 | ABCB6,ATG9A | c.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 |
2 | g.219209978T>A | CA350680883 | ABCB6,ATG9A | c.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 | |
2 | g.219209978T>C | CA350680885 | ABCB6,ATG9A | c.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 | |
2 | g.219209978T>G | CA350680887 | ABCB6,ATG9A | c.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 | |
2 | g.219209979C>A | CA350680904 | ABCB6,ATG9A | c.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 | |
2 | g.219209979C>G | CA350680902 | ABCB6,ATG9A | c.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 | |
2 | g.219209979C>T | CA350680891 | ABCB6,ATG9A | c.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 | |
2 | g.219209980T>A | CA350680910 | ABCB6,ATG9A | c.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 | |
2 | g.219209980T>C | CA65997405 | ABCB6,ATG9A | c.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 |
2 | g.219209980T>G | CA350680924 | ABCB6,ATG9A | c.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 | |
2 | g.219209980T= | CA1329111474 | ABCB6,ATG9A | c.2487A= (p.Glu829=) c.2349A= (p.Glu783=) c.2030A= c.475A= c.5037A= n.754A= n.560A= n.2800A= | |
2 | g.219209981T>A | CA350680929 | ABCB6,ATG9A | c.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 | |
2 | g.219209981T>C | CA350680933 | ABCB6,ATG9A | c.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 |
2 | g.219209981T>G | CA350680937 | ABCB6,ATG9A | c.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 | |
2 | g.219209981T= | CA1329111475 | ABCB6,ATG9A | c.2486A= (p.Glu829=) c.2348A= (p.Glu783=) c.2029A= c.474A= c.5036A= n.753A= n.559A= n.2799A= | |
2 | g.219209982C>A | CA350680942 | ABCB6,ATG9A | c.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 | |
2 | g.219209982C>G | CA350680946 | ABCB6,ATG9A | c.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 | |
2 | g.219209982C>T | CA350680947 | ABCB6,ATG9A | c.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 |
2 | g.219209983C>A | CA350680948 | ABCB6,ATG9A | c.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 | |
2 | g.219209983C= | CA1329111476 | ABCB6,ATG9A | c.2484G= (p.Gln828=) c.2346G= (p.Gln782=) c.2027G= c.472G= c.5034G= n.751G= n.557G= n.2797G= | |
2 | g.219209983C>G | CA350680949 | ABCB6,ATG9A | c.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 | |
2 | g.219209983C>T | CA65997411 | ABCB6,ATG9A | c.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 |
2 | g.219209984T>A | CA350680954 | ABCB6,ATG9A | c.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 | |
2 | g.219209984T>C | CA350680952 | ABCB6,ATG9A | c.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 |
2 | g.219209984T>G | CA350680950 | ABCB6,ATG9A | c.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 | |
2 | g.219209984T= | CA1329111477 | ABCB6,ATG9A | c.2483A= (p.Gln828=) c.2345A= (p.Gln782=) c.2026A= c.471A= c.5033A= n.750A= n.556A= n.2796A= | |
2 | g.219209985G>A | CA350680961 | ABCB6,ATG9A | c.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 | |
2 | g.219209985G>C | CA350680962 | ABCB6,ATG9A | c.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 | |
2 | g.219209985G>T | CA350680963 | ABCB6,ATG9A | c.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 | |
2 | g.219209986T>A | CA431283558 | ABCB6,ATG9A | c.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 | |
2 | g.219209986T>C | CA431283559 | ABCB6,ATG9A | c.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 |
2 | g.219209986T>G | CA431283560 | ABCB6,ATG9A | c.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 | |
2 | g.219209986T= | CA1329111478 | ABCB6,ATG9A | c.2481A= (p.Gly827=) c.2343A= (p.Gly781=) c.2024A= c.469A= c.5031A= n.748A= n.554A= n.2794A= | |
2 | g.219209987C>A | CA350680964 | ABCB6,ATG9A | c.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 | |
2 | g.219209987C>G | CA350680965 | ABCB6,ATG9A | c.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 | |
2 | g.219209987C>T | CA350680966 | ABCB6,ATG9A | c.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 |
2 | g.219209989del | CA2577297888 | ABCB6,ATG9A | c.2480del (p.Gly827AspfsTer?) c.2342del (p.Gly781AspfsTer?) c.2023del c.468del c.5030del n.747del n.553del n.2793del | |
2 | g.219209988C>A | CA350680971 | ABCB6,ATG9A | c.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 | |
2 | g.219209988C= | CA1329111479 | ABCB6,ATG9A | c.2479G= (p.Gly827=) c.2341G= (p.Gly781=) c.2022G= c.467G= c.5029G= n.746G= n.552G= n.2792G= | |
2 | g.219209988C>G | CA350680968 | ABCB6,ATG9A | c.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 | |
2 | g.219209988C>T | CA65997416 | ABCB6,ATG9A | c.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 |
2 | g.219209989C>A | CA350680974 | ABCB6,ATG9A | c.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 | |
2 | g.219209989C>G | CA350680975 | ABCB6,ATG9A | c.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 | |
2 | g.219209989C>T | CA431283564 | ABCB6,ATG9A | c.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 |
2 | g.219209990T>A | CA350680976 | ABCB6,ATG9A | c.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 | |
2 | g.219209990T>C | CA350680977 | ABCB6,ATG9A | c.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 | |
2 | g.219209990T>G | CA350680978 | ABCB6,ATG9A | c.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 | |
2 | g.219209991G>A | CA350680979 | ABCB6,ATG9A | c.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 | |
2 | g.219209991G>C | CA350680982 | ABCB6,ATG9A | c.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 |
2 | g.219209991G= | CA1329111480 | ABCB6,ATG9A | c.2476C= (p.Gln826=) c.2338C= (p.Gln780=) c.2019C= c.464C= c.5026C= n.743C= n.549C= n.2789C= | |
2 | g.219209991G>T | CA350680980 | ABCB6,ATG9A | c.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 | |
2 | g.219209992C>A | CA350680984 | ABCB6,ATG9A | c.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 |
2 | g.219209992C>G | CA350680988 | ABCB6,ATG9A | c.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 |
2 | g.219209992C>T | CA431283569 | ABCB6,ATG9A | c.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 | |
2 | g.219209993T>A | CA350680992 | ABCB6,ATG9A | c.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 | |
2 | g.219209993T>C | CA350680994 | ABCB6,ATG9A | c.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 | |
2 | g.219209993T>G | CA350681000 | ABCB6,ATG9A | c.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 | |
2 | g.219209994G>A | CA350681005 | ABCB6,ATG9A | c.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 | |
2 | g.219209994G>C | CA350681006 | ABCB6,ATG9A | c.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 | |
2 | g.219209994G>T | CA350681007 | ABCB6,ATG9A | c.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 |
2 | g.219209995C>A | CA431283571 | ABCB6,ATG9A | c.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 | |
2 | g.219209995C>G | CA431283573 | ABCB6,ATG9A | c.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 | |
2 | g.219209995C>T | CA431283572 | ABCB6,ATG9A | c.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 | |
2 | g.219209996A>C | CA350681009 | ABCB6,ATG9A | c.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 | |
2 | g.219209996A>G | CA350681011 | ABCB6,ATG9A | c.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 | |
2 | g.219209996A>T | CA350681012 | ABCB6,ATG9A | c.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 | |
2 | g.219209997G>A | CA431283577 | ABCB6,ATG9A | c.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 | |
2 | g.219209997G>C | CA2118873 | ABCB6,ATG9A | c.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 |
2 | g.219209997G= | CA1329111481 | ABCB6,ATG9A | c.2470C= (p.Leu824=) c.2332C= (p.Leu778=) c.2013C= c.458C= c.5020C= n.737C= n.543C= n.2783C= | |
2 | g.219209997G>T | CA350681015 | ABCB6,ATG9A | c.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 | |
2 | g.219209998C>A | CA350681028 | ABCB6,ATG9A | c.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 |
2 | g.219209998C= | CA1329111482 | ABCB6,ATG9A | c.2469G= (p.Gln823=) c.2331G= (p.Gln777=) c.2012G= c.457G= c.5019G= n.736G= n.542G= n.2782G= | |
2 | g.219209998C>G | CA350681038 | ABCB6,ATG9A | c.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 |
2 | g.219209998C>T | CA431283578 | ABCB6,ATG9A | c.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 | |
2 | g.219209999T>A | CA350681041 | ABCB6,ATG9A | c.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 | |
2 | g.219209999T>C | CA350681045 | ABCB6,ATG9A | c.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 | |
2 | g.219209999T>G | CA350681047 | ABCB6,ATG9A | c.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 | |
2 | g.219210000G>A | CA350681050 | ABCB6,ATG9A | c.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 | |
2 | g.219210000G>C | CA350681063 | ABCB6,ATG9A | c.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 | |
2 | g.219210000G>T | CA350681064 | ABCB6,ATG9A | c.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 | |
2 | g.219210001C>A | CA350681069 | ABCB6,ATG9A | c.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 | |
2 | g.219210001C>G | CA350681070 | ABCB6,ATG9A | c.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 | |
2 | g.219210001C>T | CA350681071 | ABCB6,ATG9A | c.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 |
2 | g.219210002C>A | CA2118874 | ABCB6,ATG9A | c.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 |
2 | g.219210002C= | CA1329111483 | ABCB6,ATG9A | c.2465G= (p.Trp822=) c.2327G= (p.Trp776=) c.2008G= c.453G= c.5015G= n.732G= n.538G= n.2778G= | |
2 | g.219210002C>G | CA350681072 | ABCB6,ATG9A | c.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 | |
2 | g.219210002C>T | CA65997429 | ABCB6,ATG9A | c.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 |
2 | g.219210003A>C | CA350681085 | ABCB6,ATG9A | c.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 | |
2 | g.219210003A>G | CA350681075 | ABCB6,ATG9A | c.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 | |
2 | g.219210003A>T | CA350681081 | ABCB6,ATG9A | c.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 | |
2 | g.219210004C>A | CA350681088 | ABCB6,ATG9A | c.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 | |
2 | g.219210004C= | CA1329111484 | ABCB6,ATG9A | c.2463G= (p.Met821=) c.2325G= (p.Met775=) c.2006G= c.451G= c.5013G= n.730G= n.536G= n.2776G= | |
2 | g.219210004C>G | CA350681089 | ABCB6,ATG9A | c.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 | |
2 | g.219210004C>T | CA2118876 | ABCB6,ATG9A | c.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 |
2 | g.219210004_219210006delinsCAT | CA1329111485 | ABCB6,ATG9A | c.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 | |
2 | g.219210005A= | CA1329111486 | ABCB6,ATG9A | c.2462T= (p.Met821=) c.2324T= (p.Met775=) c.2005T= c.450T= c.5012T= n.729T= n.535T= n.2775T= | |
2 | g.219210005A>C | CA350681090 | ABCB6,ATG9A | c.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 | |
2 | g.219210005A>G | CA350681091 | ABCB6,ATG9A | c.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 |
2 | g.219210005A>T | CA350681092 | ABCB6,ATG9A | c.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 |
2 | g.219210005_219210006del | CA2118875 | ABCB6,ATG9A | c.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 |
2 | g.219210006T>A | CA350681095 | ABCB6,ATG9A | c.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 | |
2 | g.219210006T>C | CA350681096 | ABCB6,ATG9A | c.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 | |
2 | g.219210006T>G | CA350681099 | ABCB6,ATG9A | c.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 | |
2 | g.219210007del | CA2663211259 | ABCB6,ATG9A | c.2460del (p.Asp820GlufsTer?) c.2322del (p.Asp774GlufsTer?) c.2003del c.448del c.5010del n.727del n.533del n.2773del | gnomAD v4 |
2 | g.219210007G>A | CA431283589 | ABCB6,ATG9A | c.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 |
2 | g.219210007G>C | CA350681100 | ABCB6,ATG9A | c.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 | |
2 | g.219210007G>T | CA350681103 | ABCB6,ATG9A | c.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 |
2 | g.219210008T>A | CA350681125 | ABCB6,ATG9A | c.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 | |
2 | g.219210008T>C | CA350681112 | ABCB6,ATG9A | c.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 |
2 | g.219210008T>G | CA350681109 | ABCB6,ATG9A | c.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 | |
2 | g.219210009C>A | CA350681133 | ABCB6,ATG9A | c.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 | |
2 | g.219210009C= | CA1329111487 | ABCB6,ATG9A | c.2458G= (p.Asp820=) c.2320G= (p.Asp774=) c.2001G= c.446G= c.5008G= n.725G= n.531G= n.2771G= | |
2 | g.219210009C>G | CA350681127 | ABCB6,ATG9A | c.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 |
2 | g.219210009C>T | CA350681130 | ABCB6,ATG9A | c.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 | |
2 | g.219210010A>C | CA431283597 | ABCB6,ATG9A | c.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 | |
2 | g.219210010A>G | CA431283595 | ABCB6,ATG9A | c.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 | |
2 | g.219210010A>T | CA431283596 | ABCB6,ATG9A | c.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 | |
2 | g.219210011G>A | CA350681135 | ABCB6,ATG9A | c.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 |
2 | g.219210011G>C | CA350681136 | ABCB6,ATG9A | c.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 | |
2 | g.219210011G>T | CA350681137 | ABCB6,ATG9A | c.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 | |
2 | g.219210012C>A | CA350681138 | ABCB6,ATG9A | c.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 | |
2 | g.219210012C>G | CA350681139 | ABCB6,ATG9A | c.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 | |
2 | g.219210012C>T | CA350681141 | ABCB6,ATG9A | c.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 | |
2 | g.219210013A>C | CA350681144 | ABCB6,ATG9A | c.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 | |
2 | g.219210013A>G | CA431283601 | ABCB6,ATG9A | c.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 | |
2 | g.219210013A>T | CA350681146 | ABCB6,ATG9A | c.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 | |
2 | g.219210014T>A | CA350681151 | ABCB6,ATG9A | c.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 | |
2 | g.219210014T>C | CA2118877 | ABCB6,ATG9A | c.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 |
2 | g.219210014T>G | CA350681160 | ABCB6,ATG9A | c.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 | |
2 | g.219210014T= | CA1329111488 | ABCB6,ATG9A | c.2453A= (p.Tyr818=) c.2315A= (p.Tyr772=) c.1996A= c.441A= c.5003A= n.720A= n.526A= n.2766A= | |
2 | g.219210015A= | CA1329111489 | ABCB6,ATG9A | c.2452T= (p.Tyr818=) c.2314T= (p.Tyr772=) c.1995T= c.440T= c.5002T= n.719T= n.525T= n.2765T= | |
2 | g.219210015A>C | CA350681169 | ABCB6,ATG9A | c.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 | |
2 | g.219210015A>G | CA65997458 | ABCB6,ATG9A | c.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 |
2 | g.219210015A>T | CA350681165 | ABCB6,ATG9A | c.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 | |
2 | g.219210016del | CA2663211260 | ABCB6,ATG9A | c.2451del (p.Tyr818MetfsTer?) c.2313del (p.Tyr772MetfsTer?) c.1994del c.439del c.5001del n.718del n.524del n.2764del | gnomAD v4 |
2 | g.219210016C>A | CA431283609 | ABCB6,ATG9A | c.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 | |
2 | g.219210016C= | CA1329111490 | ABCB6,ATG9A | c.2451G= (p.Val817=) c.2313G= (p.Val771=) c.1994G= c.439G= c.5001G= n.718G= n.524G= n.2764G= | |
2 | g.219210016C>G | CA431283613 | ABCB6,ATG9A | c.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 | |
2 | g.219210016C>T | CA431283611 | ABCB6,ATG9A | c.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 |
2 | g.219210017A= | CA1329111491 | ABCB6,ATG9A | c.2450T= (p.Val817=) c.2312T= (p.Val771=) c.1993T= c.438T= c.5000T= n.717T= n.523T= n.2763T= | |
2 | g.219210017A>C | CA350681172 | ABCB6,ATG9A | c.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 |
2 | g.219210017A>G | CA65997460 | ABCB6,ATG9A | c.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 |
2 | g.219210017A>T | CA350681181 | ABCB6,ATG9A | c.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 | |
2 | g.219210018C>A | CA2118878 | ABCB6,ATG9A | c.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 |
2 | g.219210018C= | CA1329111492 | ABCB6,ATG9A | c.2449G= (p.Val817=) c.2311G= (p.Val771=) c.1992G= c.437G= c.4999G= n.716G= n.522G= n.2762G= | |
2 | g.219210018C>G | CA350681184 | ABCB6,ATG9A | c.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 | |
2 | g.219210018C>T | CA2118879 | ABCB6,ATG9A | c.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 |
2 | g.219210019C>A | CA431283620 | ABCB6,ATG9A | c.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 | |
2 | g.219210019C= | CA1329111493 | ABCB6,ATG9A | c.2448G= (p.Gly816=) c.2310G= (p.Gly770=) c.1991G= c.436G= c.4998G= n.715G= n.521G= n.2761G= | |
2 | g.219210019C>G | CA65997488 | ABCB6,ATG9A | c.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 |
2 | g.219210019C>T | CA431283621 | ABCB6,ATG9A | c.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 | |
2 | g.219210020C>A | CA350681185 | ABCB6,ATG9A | c.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 | |
2 | g.219210020C>G | CA350681186 | ABCB6,ATG9A | c.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 | |
2 | g.219210020C>T | CA350681187 | ABCB6,ATG9A | c.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 |
2 | g.219210021C>A | CA350681189 | ABCB6,ATG9A | c.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 | |
2 | g.219210021C= | CA1329111494 | ABCB6,ATG9A | c.2446G= (p.Gly816=) c.2308G= (p.Gly770=) c.1989G= c.434G= c.4996G= n.713G= n.519G= n.2759G= | |
2 | g.219210021C>G | CA350681190 | ABCB6,ATG9A | c.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 | |
2 | g.219210021C>T | CA350681193 | ABCB6,ATG9A | c.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 |
2 | g.219210022A= | CA1329111495 | ABCB6,ATG9A | c.2445T= (p.Gly815=) c.2307T= (p.Gly769=) c.1988T= c.433T= c.4995T= n.712T= n.518T= n.2758T= | |
2 | g.219210022A>C | CA431283625 | ABCB6,ATG9A | c.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 |
2 | g.219210022A>G | CA431283626 | ABCB6,ATG9A | c.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 | |
2 | g.219210022A>T | CA431283627 | ABCB6,ATG9A | c.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 | |
2 | g.219210023C>A | CA350681198 | ABCB6,ATG9A | c.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 | |
2 | g.219210023C>G | CA350681202 | ABCB6,ATG9A | c.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 | |
2 | g.219210023C>T | CA350681197 | ABCB6,ATG9A | c.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 | |
2 | g.219210024C>A | CA2118880 | ABCB6,ATG9A | c.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 |
2 | g.219210024C= | CA1329111496 | ABCB6,ATG9A | c.2443G= (p.Gly815=) c.2305G= (p.Gly769=) c.1986G= c.431G= c.4993G= n.710G= n.516G= n.2756G= | |
2 | g.219210024C>G | CA350681208 | ABCB6,ATG9A | c.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 | |
2 | g.219210024C>T | CA350681207 | ABCB6,ATG9A | c.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 | |
2 | g.219210025T>A | CA431283634 | ABCB6,ATG9A | c.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 | |
2 | g.219210025T>C | CA431283635 | ABCB6,ATG9A | c.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 | |
2 | g.219210025T>G | CA431283636 | ABCB6,ATG9A | c.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 | |
2 | g.219210026C>A | CA350681210 | ABCB6,ATG9A | c.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 | |
2 | g.219210026C= | CA1329111497 | ABCB6,ATG9A | c.2441G= (p.Arg814=) c.2303G= (p.Arg768=) c.1984G= c.429G= c.4991G= n.708G= n.514G= n.2754G= | |
2 | g.219210026C>G | CA350681215 | ABCB6,ATG9A | c.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 | |
2 | g.219210026C>T | CA65997490 | ABCB6,ATG9A | c.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 |
2 | g.219210027G>A | CA2118881 | ABCB6,ATG9A | c.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 |
2 | g.219210027G>C | CA2118882 | ABCB6,ATG9A | c.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 |
2 | g.219210027G= | CA1329111498 | ABCB6,ATG9A | c.2440C= (p.Arg814=) c.2302C= (p.Arg768=) c.1983C= c.428C= c.4990C= n.707C= n.513C= n.2753C= | |
2 | g.219210027G>T | CA431283643 | ABCB6,ATG9A | c.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 | |
2 | g.219210028G>A | CA431283646 | ABCB6,ATG9A | c.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 |
2 | g.219210028G>C | CA431283648 | ABCB6,ATG9A | c.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 | |
2 | g.219210028G>T | CA431283649 | ABCB6,ATG9A | c.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 | |
2 | g.219210029G>A | CA350681228 | ABCB6,ATG9A | c.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 |
2 | g.219210029G>C | CA350681230 | ABCB6,ATG9A | c.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 | |
2 | g.219210029G>T | CA350681235 | ABCB6,ATG9A | c.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 |
2 | g.219210030A>C | CA350681249 | ABCB6,ATG9A | c.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 | |
2 | g.219210030A>G | CA350681251 | ABCB6,ATG9A | c.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 | |
2 | g.219210030A>T | CA350681254 | ABCB6,ATG9A | c.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 | |
2 | g.219210031C>A | CA350681255 | ABCB6,ATG9A | c.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 |
2 | g.219210031C= | CA1329111499 | ABCB6,ATG9A | c.2436G= (p.Leu812=) c.2298G= (p.Leu766=) c.1979G= c.424G= c.4986G= n.703G= n.509G= n.2749G= | |
2 | g.219210031C>G | CA350681256 | ABCB6,ATG9A | c.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 | |
2 | g.219210031C>T | CA2118883 | ABCB6,ATG9A | c.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 |
2 | g.219210032A>C | CA350681275 | ABCB6,ATG9A | c.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 | |
2 | g.219210032A>G | CA350681273 | ABCB6,ATG9A | c.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 | |
2 | g.219210032A>T | CA350681261 | ABCB6,ATG9A | c.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 | |
2 | g.219210033A= | CA1329111500 | ABCB6,ATG9A | c.2434T= (p.Leu812=) c.2296T= (p.Leu766=) c.1977T= c.422T= c.4984T= n.701T= n.507T= n.2747T= | |
2 | g.219210033A>C | CA350681283 | ABCB6,ATG9A | c.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 | |
2 | g.219210033A>G | CA65997514 | ABCB6,ATG9A | c.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 |
2 | g.219210033A>T | CA350681288 | ABCB6,ATG9A | c.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 | |
2 | g.219210034C>A | CA431283655 | ABCB6,ATG9A | c.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 | |
2 | g.219210034C>G | CA431283657 | ABCB6,ATG9A | c.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 |
2 | g.219210034C>T | CA431283656 | ABCB6,ATG9A | c.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 | |
2 | g.219210035A>C | CA350681289 | ABCB6,ATG9A | c.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 | |
2 | g.219210035A>G | CA350681290 | ABCB6,ATG9A | c.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 | |
2 | g.219210035A>T | CA350681291 | ABCB6,ATG9A | c.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 | |
2 | g.219210036G>A | CA431283658 | ABCB6,ATG9A | c.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 | |
2 | g.219210036G>C | CA129261 | ABCB6,ATG9A | c.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 |
2 | g.219210036G= | CA1329111501 | ABCB6,ATG9A | c.2431C= (p.Leu811=) c.2293C= (p.Leu765=) c.1974C= c.419C= c.4981C= n.698C= n.504C= n.2744C= | |
2 | g.219210036G>T | CA350681294 | ABCB6,ATG9A | c.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 | |
2 | g.219210037A>C | CA431283659 | ABCB6,ATG9A | c.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 | |
2 | g.219210037A>G | CA431283660 | ABCB6,ATG9A | c.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 | |
2 | g.219210037A>T | CA431283661 | ABCB6,ATG9A | c.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 |
2 | g.219210038G>A | CA2118884 | ABCB6,ATG9A | c.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 |
2 | g.219210038G>C | CA350681298 | ABCB6,ATG9A | c.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 | |
2 | g.219210038G= | CA1329111502 | ABCB6,ATG9A | c.2429C= (p.Ala810=) c.2291C= (p.Ala764=) c.1972C= c.417C= c.4979C= n.696C= n.502C= n.2742C= | |
2 | g.219210038G>T | CA350681301 | ABCB6,ATG9A | c.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 | |
2 | g.219210039C>A | CA350681309 | ABCB6,ATG9A | c.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 | |
2 | g.219210039C= | CA1329111503 | ABCB6,ATG9A | c.2428G= (p.Ala810=) c.2290G= (p.Ala764=) c.1971G= c.416G= c.4978G= n.695G= n.501G= n.2741G= | |
2 | g.219210039C>G | CA350681308 | ABCB6,ATG9A | c.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 |
2 | g.219210039C>T | CA350681307 | ABCB6,ATG9A | c.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 | |
2 | g.219210040C>A | CA350681311 | ABCB6,ATG9A | c.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 | |
2 | g.219210040C= | CA1329111504 | ABCB6,ATG9A | c.2427G= (p.Glu809=) c.2289G= (p.Glu763=) c.1970G= c.415G= c.4977G= n.694G= n.500G= n.2740G= | |
2 | g.219210040C>G | CA350681314 | ABCB6,ATG9A | c.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 | |
2 | g.219210040C>T | CA431283667 | ABCB6,ATG9A | c.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 |
2 | g.219210041T>A | CA350681319 | ABCB6,ATG9A | c.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 | |
2 | g.219210041T>C | CA350681321 | ABCB6,ATG9A | c.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 | |
2 | g.219210041T>G | CA350681323 | ABCB6,ATG9A | c.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 | |
2 | g.219210042C>A | CA350681326 | ABCB6,ATG9A | c.2425G>T (p.Glu809Ter) c.2287G>T (p.Glu763Ter) c.1968G>T c.413G>T c.4975G>T n.692G>T n.498G>T n.2738G>T | |
2 | g.219210042C= | CA1329111505 | ABCB6,ATG9A | c.2425G= (p.Glu809=) c.2287G= (p.Glu763=) c.1968G= c.413G= c.4975G= n.692G= n.498G= n.2738G= | |
2 | g.219210042C>G | CA2118886 | ABCB6,ATG9A | c.2425G>C (p.Glu809Gln) c.2287G>C (p.Glu763Gln) c.1968G>C c.413G>C c.4975G>C n.692G>C n.498G>C n.2738G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.219210042C>T | CA2118885 | ABCB6,ATG9A | c.2425G>A (p.Glu809Lys) c.2287G>A (p.Glu763Lys) c.1968G>A c.413G>A c.4975G>A n.692G>A n.498G>A n.2738G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219210043G>A | CA2118888 | ABCB6,ATG9A | c.2424C>T (p.His808=) c.2286C>T (p.His762=) c.1967C>T c.412C>T c.4974C>T n.691C>T n.497C>T n.2737C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.219210043G>C | CA350681341 | ABCB6,ATG9A | c.2424C>G (p.His808Gln) c.2286C>G (p.His762Gln) c.1967C>G c.412C>G c.4974C>G n.691C>G n.497C>G n.2737C>G | dbSNP |
2 | g.219210043G= | CA1329111506 | ABCB6,ATG9A | c.2424C= (p.His808=) c.2286C= (p.His762=) c.1967C= c.412C= c.4974C= n.691C= n.497C= n.2737C= | |
2 | g.219210043G>T | CA2118887 | ABCB6,ATG9A | c.2424C>A (p.His808Gln) c.2286C>A (p.His762Gln) c.1967C>A c.412C>A c.4974C>A n.691C>A n.497C>A n.2737C>A | dbSNP ExAC gnomAD v4 |
2 | g.219210044T>A | CA350681349 | ABCB6,ATG9A | c.2423A>T (p.His808Leu) c.2285A>T (p.His762Leu) c.1966A>T c.411A>T c.4973A>T n.690A>T n.496A>T n.2736A>T | |
2 | g.219210044T>C | CA350681347 | ABCB6,ATG9A | c.2423A>G (p.His808Arg) c.2285A>G (p.His762Arg) c.1966A>G c.411A>G c.4973A>G n.690A>G n.496A>G n.2736A>G | |
2 | g.219210044T>G | CA350681343 | ABCB6,ATG9A | c.2423A>C (p.His808Pro) c.2285A>C (p.His762Pro) c.1966A>C c.411A>C c.4973A>C n.690A>C n.496A>C n.2736A>C |