UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.59269153_59269155dup | CA8979248 | RAX | c.900_902dup (p.Pro301_Ser302insPro) c.*331_*333dup (n.*331_*333dup) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.59269150_59269155dup | CA8979249 | RAX | c.897_902dup (p.Pro301_Ser302insProPro) c.*328_*333dup (n.*328_*333dup) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.59269153_59269155del | CA630396730 | RAX | c.900_902del (p.Pro301del) c.*331_*333del (n.*331_*333del) | gnomAD v2 gnomAD v4 |
| 18 | g.59269154_59269216del | CA2642011316 | RAX | c.840_902del (p.Pro281_Pro301del) c.*271_*333del (n.*271_*333del) | gnomAD v4 |
| 18 | g.59269146G>A | CA402583980 | RAX | c.899C>T (p.Pro300Leu) c.*330C>T (n.*330C>T) | dbSNP |
| 18 | g.59269146G>C | CA402583982 | RAX | c.899C>G (p.Pro300Arg) c.*330C>G (n.*330C>G) | |
| 18 | g.59269146G= | CA2306830777 | RAX | c.899C= (p.Pro300=) c.*330C= (n.*330C=) | |
| 18 | g.59269146G>T | CA402583984 | RAX | c.899C>A (p.Pro300Gln) c.*330C>A (n.*330C>A) | gnomAD v4 |
| 18 | g.59269156_59269215del | CA2642011317 | RAX | c.840_899del (p.Pro281_Pro300del) c.*271_*330del (n.*271_*330del) | gnomAD v4 |
| 18 | g.59269147G>A | CA402583988 | RAX | c.898C>T (p.Pro300Ser) c.*329C>T (n.*329C>T) | |
| 18 | g.59269147G>C | CA402583989 | RAX | c.898C>G (p.Pro300Ala) c.*329C>G (n.*329C>G) | |
| 18 | g.59269147G>T | CA402583985 | RAX | c.898C>A (p.Pro300Thr) c.*329C>A (n.*329C>A) | |
| 18 | g.59269148C>A | CA504297050 | RAX | c.897G>T (p.Pro299=) c.*328G>T (n.*328G>T) | gnomAD v4 |
| 18 | g.59269148C= | CA2306830778 | RAX | c.897G= (p.Pro299=) c.*328G= (n.*328G=) | |
| 18 | g.59269148C>G | CA504297051 | RAX | c.897G>C (p.Pro299=) c.*328G>C (n.*328G>C) | dbSNP gnomAD v4 |
| 18 | g.59269148C>T | CA504297052 | RAX | c.897G>A (p.Pro299=) c.*328G>A (n.*328G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.59269149G>A | CA402583994 | RAX | c.896C>T (p.Pro299Leu) c.*327C>T (n.*327C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.59269149G>C | CA402583992 | RAX | c.896C>G (p.Pro299Arg) c.*327C>G (n.*327C>G) | |
| 18 | g.59269149G= | CA2306830781 | RAX | c.896C= (p.Pro299=) c.*327C= (n.*327C=) | |
| 18 | g.59269149G>T | CA8979251 | RAX | c.896C>A (p.Pro299Gln) c.*327C>A (n.*327C>A) | dbSNP ExAC gnomAD v4 |
| 18 | g.59269150G>A | CA402583995 | RAX | c.895C>T (p.Pro299Ser) c.*326C>T (n.*326C>T) | dbSNP gnomAD v4 |
| 18 | g.59269150G>C | CA402583997 | RAX | c.895C>G (p.Pro299Ala) c.*326C>G (n.*326C>G) | |
| 18 | g.59269150G= | CA2306830783 | RAX | c.895C= (p.Pro299=) c.*326C= (n.*326C=) | |
| 18 | g.59269150G>T | CA402583999 | RAX | c.895C>A (p.Pro299Thr) c.*326C>A (n.*326C>A) | |
| 18 | g.59269151C>A | CA504297057 | RAX | c.894G>T (p.Pro298=) c.*325G>T (n.*325G>T) | gnomAD v4 |
| 18 | g.59269151C>G | CA504297058 | RAX | c.894G>C (p.Pro298=) c.*325G>C (n.*325G>C) | |
| 18 | g.59269151C>T | CA504297060 | RAX | c.894G>A (p.Pro298=) c.*325G>A (n.*325G>A) | gnomAD v4 |
| 18 | g.59269152G>A | CA402584001 | RAX | c.893C>T (p.Pro298Leu) c.*324C>T (n.*324C>T) | |
| 18 | g.59269152G>C | CA402584002 | RAX | c.893C>G (p.Pro298Arg) c.*324C>G (n.*324C>G) | |
| 18 | g.59269152G>T | CA402584004 | RAX | c.893C>A (p.Pro298Gln) c.*324C>A (n.*324C>A) | gnomAD v4 |
| 18 | g.59269153del | CA2642011318 | RAX | c.893del (p.Pro298ArgfsTer?) c.*324del (n.*324del) | gnomAD v4 |
| 18 | g.59269153G>A | CA402584006 | RAX | c.892C>T (p.Pro298Ser) c.*323C>T (n.*323C>T) | gnomAD v4 |
| 18 | g.59269153G>C | CA402584007 | RAX | c.892C>G (p.Pro298Ala) c.*323C>G (n.*323C>G) | |
| 18 | g.59269153G>T | CA402584008 | RAX | c.892C>A (p.Pro298Thr) c.*323C>A (n.*323C>A) | gnomAD v4 |
| 18 | g.59269154C>A | CA504297062 | RAX | c.891G>T (p.Ala297=) c.*322G>T (n.*322G>T) | gnomAD v4 |
| 18 | g.59269154C= | CA2306830785 | RAX | c.891G= (p.Ala297=) c.*322G= (n.*322G=) | |
| 18 | g.59269154C>G | CA504297063 | RAX | c.891G>C (p.Ala297=) c.*322G>C (n.*322G>C) | |
| 18 | g.59269154C>T | CA8979252 | RAX | c.891G>A (p.Ala297=) c.*322G>A (n.*322G>A) | dbSNP ExAC gnomAD v4 |
| 18 | g.59269155G>A | CA402584016 | RAX | c.890C>T (p.Ala297Val) c.*321C>T (n.*321C>T) | gnomAD v4 |
| 18 | g.59269155G>C | CA402584014 | RAX | c.890C>G (p.Ala297Gly) c.*321C>G (n.*321C>G) | gnomAD v4 |
| 18 | g.59269155G= | CA2306830787 | RAX | c.890C= (p.Ala297=) c.*321C= (n.*321C=) | |
| 18 | g.59269155G>T | CA402584011 | RAX | c.890C>A (p.Ala297Glu) c.*321C>A (n.*321C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.59269155_59269156insGCC | CA2555135666 | RAX | c.889_890insGGC (p.Ala297delinsGlyPro) c.*320_*321insGGC (n.*320_*321insGGC) | |
| 18 | g.59269156C>A | CA8979253 | RAX | c.889G>T (p.Ala297Ser) c.*320G>T (n.*320G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.59269156C= | CA2306830790 | RAX | c.889G= (p.Ala297=) c.*320G= (n.*320G=) | |
| 18 | g.59269156C>G | CA300981254 | RAX | c.889G>C (p.Ala297Pro) c.*320G>C (n.*320G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.59269156C>T | CA402584020 | RAX | c.889G>A (p.Ala297Thr) c.*320G>A (n.*320G>A) | gnomAD v4 |
| 18 | g.59269157G>A | CA504297069 | RAX | c.888C>T (p.Leu296=) c.*319C>T (n.*319C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.59269157G>C | CA504297070 | RAX | c.888C>G (p.Leu296=) c.*319C>G (n.*319C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.59269157G= | CA2306830792 | RAX | c.888C= (p.Leu296=) c.*319C= (n.*319C=) | |
| 18 | g.59269157G>T | CA504297071 | RAX | c.888C>A (p.Leu296=) c.*319C>A (n.*319C>A) | gnomAD v4 |
| 18 | g.59269158A>C | CA402584023 | RAX | c.887T>G (p.Leu296Arg) c.*318T>G (n.*318T>G) | |
| 18 | g.59269158A>G | CA402584024 | RAX | c.887T>C (p.Leu296Pro) c.*318T>C (n.*318T>C) | gnomAD v4 |
| 18 | g.59269158A>T | CA402584026 | RAX | c.887T>A (p.Leu296His) c.*318T>A (n.*318T>A) | |
| 18 | g.59269159G>A | CA300981255 | RAX | c.886C>T (p.Leu296Phe) c.*317C>T (n.*317C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.59269159G>C | CA402584029 | RAX | c.886C>G (p.Leu296Val) c.*317C>G (n.*317C>G) | |
| 18 | g.59269159G= | CA2306830794 | RAX | c.886C= (p.Leu296=) c.*317C= (n.*317C=) | |
| 18 | g.59269159G>T | CA402584031 | RAX | c.886C>A (p.Leu296Ile) c.*317C>A (n.*317C>A) | gnomAD v4 |
| 18 | g.59269160A>C | CA504297076 | RAX | c.885T>G (p.Pro295=) c.*316T>G (n.*316T>G) | |
| 18 | g.59269160A>G | CA504297077 | RAX | c.885T>C (p.Pro295=) c.*316T>C (n.*316T>C) | gnomAD v4 |
| 18 | g.59269160A>T | CA504297078 | RAX | c.885T>A (p.Pro295=) c.*316T>A (n.*316T>A) | |
| 18 | g.59269161G>A | CA402584033 | RAX | c.884C>T (p.Pro295Leu) c.*315C>T (n.*315C>T) | |
| 18 | g.59269161G>C | CA402584035 | RAX | c.884C>G (p.Pro295Arg) c.*315C>G (n.*315C>G) | |
| 18 | g.59269161G>T | CA402584036 | RAX | c.884C>A (p.Pro295His) c.*315C>A (n.*315C>A) | gnomAD v4 |
| 18 | g.59269162G>A | CA402584040 | RAX | c.883C>T (p.Pro295Ser) c.*314C>T (n.*314C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.59269162G>C | CA402584042 | RAX | c.883C>G (p.Pro295Ala) c.*314C>G (n.*314C>G) | |
| 18 | g.59269162G= | CA2306830796 | RAX | c.883C= (p.Pro295=) c.*314C= (n.*314C=) | |
| 18 | g.59269162G>T | CA402584039 | RAX | c.883C>A (p.Pro295Thr) c.*314C>A (n.*314C>A) | gnomAD v4 |
| 18 | g.59269163T>A | CA402584044 | RAX | c.882A>T (p.Gln294His) c.*313A>T (n.*313A>T) | |
| 18 | g.59269163T>C | CA8979254 | RAX | c.882A>G (p.Gln294=) c.*313A>G (n.*313A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.59269163T>G | CA402584047 | RAX | c.882A>C (p.Gln294His) c.*313A>C (n.*313A>C) | |
| 18 | g.59269163T= | CA2306830799 | RAX | c.882A= (p.Gln294=) c.*313A= (n.*313A=) | |
| 18 | g.59269164T>A | CA402584049 | RAX | c.881A>T (p.Gln294Leu) c.*312A>T (n.*312A>T) | dbSNP gnomAD v2 |
| 18 | g.59269164T>C | CA402584051 | RAX | c.881A>G (p.Gln294Arg) c.*312A>G (n.*312A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.59269164T>G | CA402584053 | RAX | c.881A>C (p.Gln294Pro) c.*312A>C (n.*312A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.59269164T= | CA2306830803 | RAX | c.881A= (p.Gln294=) c.*312A= (n.*312A=) | |
| 18 | g.59269165G>A | CA402584057 | RAX | c.880C>T (p.Gln294Ter) c.*311C>T (n.*311C>T) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 18 | g.59269165G>C | CA402584054 | RAX | c.880C>G (p.Gln294Glu) c.*311C>G (n.*311C>G) | |
| 18 | g.59269165G= | CA2306830806 | RAX | c.880C= (p.Gln294=) c.*311C= (n.*311C=) | |
| 18 | g.59269165G>T | CA402584056 | RAX | c.880C>A (p.Gln294Lys) c.*311C>A (n.*311C>A) | gnomAD v4 |
| 18 | g.59269166C>A | CA504297088 | RAX | c.879G>T (p.Leu293=) c.*310G>T (n.*310G>T) | dbSNP gnomAD v4 |
| 18 | g.59269166C= | CA2306830808 | RAX | c.879G= (p.Leu293=) c.*310G= (n.*310G=) | |
| 18 | g.59269166C>G | CA504297089 | RAX | c.879G>C (p.Leu293=) c.*310G>C (n.*310G>C) | |
| 18 | g.59269166C>T | CA504297090 | RAX | c.879G>A (p.Leu293=) c.*310G>A (n.*310G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.59269167A>C | CA402584059 | RAX | c.878T>G (p.Leu293Arg) c.*309T>G (n.*309T>G) | |
| 18 | g.59269167A>G | CA402584061 | RAX | c.878T>C (p.Leu293Pro) c.*309T>C (n.*309T>C) | gnomAD v4 |
| 18 | g.59269167A>T | CA402584063 | RAX | c.878T>A (p.Leu293Gln) c.*309T>A (n.*309T>A) | |
| 18 | g.59269168G>A | CA504297094 | RAX | c.877C>T (p.Leu293=) c.*308C>T (n.*308C>T) | gnomAD v4 |
| 18 | g.59269168G>C | CA402584064 | RAX | c.877C>G (p.Leu293Val) c.*308C>G (n.*308C>G) | |
| 18 | g.59269168G>T | CA402584065 | RAX | c.877C>A (p.Leu293Met) c.*308C>A (n.*308C>A) | gnomAD v4 |
| 18 | g.59269169G>A | CA504297096 | RAX | c.876C>T (p.Gly292=) c.*307C>T (n.*307C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.59269169G>C | CA504297097 | RAX | c.876C>G (p.Gly292=) c.*307C>G (n.*307C>G) | |
| 18 | g.59269169G= | CA2306830810 | RAX | c.876C= (p.Gly292=) c.*307C= (n.*307C=) | |
| 18 | g.59269169G>T | CA504297099 | RAX | c.876C>A (p.Gly292=) c.*307C>A (n.*307C>A) | gnomAD v4 |
| 18 | g.59269170C>A | CA402584067 | RAX | c.875G>T (p.Gly292Val) c.*306G>T (n.*306G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.59269170C= | CA2306830811 | RAX | c.875G= (p.Gly292=) c.*306G= (n.*306G=) | |
| 18 | g.59269170C>G | CA402584070 | RAX | c.875G>C (p.Gly292Ala) c.*306G>C (n.*306G>C) | |
| 18 | g.59269170C>T | CA402584069 | RAX | c.875G>A (p.Gly292Asp) c.*306G>A (n.*306G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.59269170_59269171dup | CA2812677033 | RAX | c.874_875dup (p.Leu293AlafsTer?) c.*305_*306dup (n.*305_*306dup) | |
| 18 | g.59269171C>A | CA402584073 | RAX | c.874G>T (p.Gly292Cys) c.*305G>T (n.*305G>T) | gnomAD v4 |
| 18 | g.59269171C= | CA2306830813 | RAX | c.874G= (p.Gly292=) c.*305G= (n.*305G=) | |
| 18 | g.59269171C>G | CA402584075 | RAX | c.874G>C (p.Gly292Arg) c.*305G>C (n.*305G>C) | gnomAD v4 |
| 18 | g.59269171C>T | CA8979255 | RAX | c.874G>A (p.Gly292Ser) c.*305G>A (n.*305G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.59269172G>A | CA8979256 | RAX | c.873C>T (p.Pro291=) c.*304C>T (n.*304C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.59269172G>C | CA504297104 | RAX | c.873C>G (p.Pro291=) c.*304C>G (n.*304C>G) | |
| 18 | g.59269172G= | CA2306830815 | RAX | c.873C= (p.Pro291=) c.*304C= (n.*304C=) | |
| 18 | g.59269172G>T | CA8979257 | RAX | c.873C>A (p.Pro291=) c.*304C>A (n.*304C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.59269175del | CA504297107 | RAX | c.873del (p.Gly292AlafsTer?) c.*304del (n.*304del) | gnomAD v4 |
| 18 | g.59269173G>A | CA402584081 | RAX | c.872C>T (p.Pro291Leu) c.*303C>T (n.*303C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.59269173G>C | CA402584083 | RAX | c.872C>G (p.Pro291Arg) c.*303C>G (n.*303C>G) | |
| 18 | g.59269173G= | CA2306830818 | RAX | c.872C= (p.Pro291=) c.*303C= (n.*303C=) | |
| 18 | g.59269173G>T | CA402584085 | RAX | c.872C>A (p.Pro291His) c.*303C>A (n.*303C>A) | |
| 18 | g.59269174G>A | CA402584087 | RAX | c.871C>T (p.Pro291Ser) c.*302C>T (n.*302C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.59269174G>C | CA402584089 | RAX | c.871C>G (p.Pro291Ala) c.*302C>G (n.*302C>G) | |
| 18 | g.59269174G= | CA2306830820 | RAX | c.871C= (p.Pro291=) c.*302C= (n.*302C=) | |
| 18 | g.59269174G>T | CA402584090 | RAX | c.871C>A (p.Pro291Thr) c.*302C>A (n.*302C>A) | gnomAD v4 |
| 18 | g.59269175G>A | CA8979258 | RAX | c.870C>T (p.Gly290=) c.*301C>T (n.*301C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.59269175G>C | CA504297114 | RAX | c.870C>G (p.Gly290=) c.*301C>G (n.*301C>G) | gnomAD v4 |
| 18 | g.59269175G= | CA2306830821 | RAX | c.870C= (p.Gly290=) c.*301C= (n.*301C=) | |
| 18 | g.59269175G>T | CA504297115 | RAX | c.870C>A (p.Gly290=) c.*301C>A (n.*301C>A) | gnomAD v4 |
| 18 | g.59269176C>A | CA402584095 | RAX | c.869G>T (p.Gly290Val) c.*300G>T (n.*300G>T) | gnomAD v4 |
| 18 | g.59269176C>G | CA402584097 | RAX | c.869G>C (p.Gly290Ala) c.*300G>C (n.*300G>C) | |
| 18 | g.59269176C>T | CA402584094 | RAX | c.869G>A (p.Gly290Asp) c.*300G>A (n.*300G>A) | gnomAD v4 |
| 18 | g.59269178del | CA2642011319 | RAX | c.869del (p.Gly290AlafsTer?) c.*300del (n.*300del) | gnomAD v4 |
| 18 | g.59269177C>A | CA402584099 | RAX | c.868G>T (p.Gly290Cys) c.*299G>T (n.*299G>T) | gnomAD v4 |
| 18 | g.59269177C= | CA2306830823 | RAX | c.868G= (p.Gly290=) c.*299G= (n.*299G=) | |
| 18 | g.59269177C>G | CA402584101 | RAX | c.868G>C (p.Gly290Arg) c.*299G>C (n.*299G>C) | |
| 18 | g.59269177C>T | CA8979259 | RAX | c.868G>A (p.Gly290Ser) c.*299G>A (n.*299G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.59269178C>A | CA8979260 | RAX | c.867G>T (p.Leu289Phe) c.*298G>T (n.*298G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.59269178C= | CA2306830824 | RAX | c.867G= (p.Leu289=) c.*298G= (n.*298G=) | |
| 18 | g.59269178C>G | CA402584105 | RAX | c.867G>C (p.Leu289Phe) c.*298G>C (n.*298G>C) | ClinVar |
| 18 | g.59269178C>T | CA504297119 | RAX | c.867G>A (p.Leu289=) c.*298G>A (n.*298G>A) | gnomAD v4 |
| 18 | g.59269179A>C | CA402584108 | RAX | c.866T>G (p.Leu289Trp) c.*297T>G (n.*297T>G) | |
| 18 | g.59269179A>G | CA402584110 | RAX | c.866T>C (p.Leu289Ser) c.*297T>C (n.*297T>C) | |
| 18 | g.59269179A>T | CA402584111 | RAX | c.866T>A (p.Leu289Ter) c.*297T>A (n.*297T>A) | |
| 18 | g.59269180A= | CA2306830826 | RAX | c.865T= (p.Leu289=) c.*296T= (n.*296T=) | |
| 18 | g.59269180A>C | CA402584114 | RAX | c.865T>G (p.Leu289Val) c.*296T>G (n.*296T>G) | |
| 18 | g.59269180A>G | CA504297120 | RAX | c.865T>C (p.Leu289=) c.*296T>C (n.*296T>C) | dbSNP gnomAD v4 |
| 18 | g.59269180A>T | CA402584116 | RAX | c.865T>A (p.Leu289Met) c.*296T>A (n.*296T>A) | |
| 18 | g.59269181C>A | CA504297122 | RAX | c.864G>T (p.Pro288=) c.*295G>T (n.*295G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.59269181C= | CA2306830827 | RAX | c.864G= (p.Pro288=) c.*295G= (n.*295G=) | |
| 18 | g.59269181C>G | CA504297124 | RAX | c.864G>C (p.Pro288=) c.*295G>C (n.*295G>C) | |
| 18 | g.59269181C>T | CA504297125 | RAX | c.864G>A (p.Pro288=) c.*295G>A (n.*295G>A) | gnomAD v4 |
| 18 | g.59269182G>A | CA402584118 | RAX | c.863C>T (p.Pro288Leu) c.*294C>T (n.*294C>T) | gnomAD v4 |
| 18 | g.59269182G>C | CA402584119 | RAX | c.863C>G (p.Pro288Arg) c.*294C>G (n.*294C>G) | |
| 18 | g.59269182G= | CA2306830829 | RAX | c.863C= (p.Pro288=) c.*294C= (n.*294C=) | |
| 18 | g.59269182G>T | CA8979261 | RAX | c.863C>A (p.Pro288Gln) c.*294C>A (n.*294C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.59269183G>A | CA402584126 | RAX | c.862C>T (p.Pro288Ser) c.*293C>T (n.*293C>T) | gnomAD v4 |
| 18 | g.59269183G>C | CA402584124 | RAX | c.862C>G (p.Pro288Ala) c.*293C>G (n.*293C>G) | |
| 18 | g.59269183G>T | CA402584122 | RAX | c.862C>A (p.Pro288Thr) c.*293C>A (n.*293C>A) | gnomAD v4 |
| 18 | g.59269184C>A | CA504297126 | RAX | c.861G>T (p.Pro287=) c.*292G>T (n.*292G>T) | gnomAD v4 |
| 18 | g.59269184C= | CA2306830832 | RAX | c.861G= (p.Pro287=) c.*292G= (n.*292G=) | |
| 18 | g.59269184C>G | CA504297127 | RAX | c.861G>C (p.Pro287=) c.*292G>C (n.*292G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.59269184C>T | CA504297128 | RAX | c.861G>A (p.Pro287=) c.*292G>A (n.*292G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.59269185G>A | CA402584129 | RAX | c.860C>T (p.Pro287Leu) c.*291C>T (n.*291C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.59269185G>C | CA402584131 | RAX | c.860C>G (p.Pro287Arg) c.*291C>G (n.*291C>G) | dbSNP gnomAD v2 |
| 18 | g.59269185G= | CA2306830834 | RAX | c.860C= (p.Pro287=) c.*291C= (n.*291C=) | |
| 18 | g.59269185G>T | CA402584133 | RAX | c.860C>A (p.Pro287Gln) c.*291C>A (n.*291C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.59269186G>A | CA402584135 | RAX | c.859C>T (p.Pro287Ser) c.*290C>T (n.*290C>T) | dbSNP gnomAD v4 |
| 18 | g.59269186G>C | CA402584136 | RAX | c.859C>G (p.Pro287Ala) c.*290C>G (n.*290C>G) | |
| 18 | g.59269186G= | CA2306830836 | RAX | c.859C= (p.Pro287=) c.*290C= (n.*290C=) | |
| 18 | g.59269186G>T | CA402584139 | RAX | c.859C>A (p.Pro287Thr) c.*290C>A (n.*290C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.59269187G>A | CA504297131 | RAX | c.858C>T (p.Ser286=) c.*289C>T (n.*289C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.59269187G>C | CA504297132 | RAX | c.858C>G (p.Ser286=) c.*289C>G (n.*289C>G) | |
| 18 | g.59269187G= | CA2306830838 | RAX | c.858C= (p.Ser286=) c.*289C= (n.*289C=) | |
| 18 | g.59269187G>T | CA504297133 | RAX | c.858C>A (p.Ser286=) c.*289C>A (n.*289C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.59269188G>A | CA402584141 | RAX | c.857C>T (p.Ser286Phe) c.*288C>T (n.*288C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.59269188G>C | CA8979262 | RAX | c.857C>G (p.Ser286Cys) c.*288C>G (n.*288C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.59269188G= | CA2306830841 | RAX | c.857C= (p.Ser286=) c.*288C= (n.*288C=) | |
| 18 | g.59269188G>T | CA402584145 | RAX | c.857C>A (p.Ser286Tyr) c.*288C>A (n.*288C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.59269189A= | CA2306830844 | RAX | c.856T= (p.Ser286=) c.*287T= (n.*287T=) | |
| 18 | g.59269189A>C | CA402584147 | RAX | c.856T>G (p.Ser286Ala) c.*287T>G (n.*287T>G) | |
| 18 | g.59269189A>G | CA300981297 | RAX | c.856T>C (p.Ser286Pro) c.*287T>C (n.*287T>C) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 18 | g.59269189A>T | CA8979263 | RAX | c.856T>A (p.Ser286Thr) c.*287T>A (n.*287T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.59269190G>A | CA504297137 | RAX | c.855C>T (p.Asn285=) c.*286C>T (n.*286C>T) | gnomAD v4 |
| 18 | g.59269190G>C | CA402584151 | RAX | c.855C>G (p.Asn285Lys) c.*286C>G (n.*286C>G) | |
| 18 | g.59269190G>T | CA402584153 | RAX | c.855C>A (p.Asn285Lys) c.*286C>A (n.*286C>A) | gnomAD v4 |
| 18 | g.59269191T>A | CA402584157 | RAX | c.854A>T (p.Asn285Ile) c.*285A>T (n.*285A>T) | |
| 18 | g.59269191T>C | CA402584158 | RAX | c.854A>G (p.Asn285Ser) c.*285A>G (n.*285A>G) | |
| 18 | g.59269191T>G | CA402584155 | RAX | c.854A>C (p.Asn285Thr) c.*285A>C (n.*285A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.59269191T= | CA2306830847 | RAX | c.854A= (p.Asn285=) c.*285A= (n.*285A=) | |
| 18 | g.59269192T>A | CA402584160 | RAX | c.853A>T (p.Asn285Tyr) c.*284A>T (n.*284A>T) | |
| 18 | g.59269192T>C | CA402584162 | RAX | c.853A>G (p.Asn285Asp) c.*284A>G (n.*284A>G) | |
| 18 | g.59269192T>G | CA402584164 | RAX | c.853A>C (p.Asn285His) c.*284A>C (n.*284A>C) | |
| 18 | g.59269192_59269193delinsTC | CA2306830849 | RAX | c.852_853delinsGA (p.Leu284=) c.*283_*284delinsGA (n.*283_*284delinsGA) | |
| 18 | g.59269193del | CA781007639 | RAX | c.852del (p.Asn285ThrfsTer?) c.*283del (n.*283del) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.59269193C>A | CA504297142 | RAX | c.852G>T (p.Leu284=) c.*283G>T (n.*283G>T) | gnomAD v4 |
| 18 | g.59269193C= | CA2306830850 | RAX | c.852G= (p.Leu284=) c.*283G= (n.*283G=) | |
| 18 | g.59269193C>G | CA504297144 | RAX | c.852G>C (p.Leu284=) c.*283G>C (n.*283G>C) | |
| 18 | g.59269193C>T | CA504297146 | RAX | c.852G>A (p.Leu284=) c.*283G>A (n.*283G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.59269194A= | CA2306830852 | RAX | c.851T= (p.Leu284=) c.*282T= (n.*282T=) | |
| 18 | g.59269194A>C | CA300981312 | RAX | c.851T>G (p.Leu284Arg) c.*282T>G (n.*282T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.59269194A>G | CA402584166 | RAX | c.851T>C (p.Leu284Pro) c.*282T>C (n.*282T>C) | gnomAD v4 |
| 18 | g.59269194A>T | CA402584169 | RAX | c.851T>A (p.Leu284Gln) c.*282T>A (n.*282T>A) | gnomAD v4 |
| 18 | g.59269195G>A | CA504297148 | RAX | c.850C>T (p.Leu284=) c.*281C>T (n.*281C>T) | |
| 18 | g.59269195G>C | CA402584171 | RAX | c.850C>G (p.Leu284Val) c.*281C>G (n.*281C>G) | |
| 18 | g.59269195G>T | CA402584174 | RAX | c.850C>A (p.Leu284Met) c.*281C>A (n.*281C>A) | gnomAD v4 |
| 18 | g.59269196G>A | CA504297151 | RAX | c.849C>T (p.Phe283=) c.*280C>T (n.*280C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.59269196G>C | CA402584176 | RAX | c.849C>G (p.Phe283Leu) c.*280C>G (n.*280C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.59269196G= | CA2306830854 | RAX | c.849C= (p.Phe283=) c.*280C= (n.*280C=) | |
| 18 | g.59269196G>T | CA402584178 | RAX | c.849C>A (p.Phe283Leu) c.*280C>A (n.*280C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.59269197A>C | CA402584180 | RAX | c.848T>G (p.Phe283Cys) c.*279T>G (n.*279T>G) | |
| 18 | g.59269197A>G | CA402584182 | RAX | c.848T>C (p.Phe283Ser) c.*279T>C (n.*279T>C) | |
| 18 | g.59269197A>T | CA402584184 | RAX | c.848T>A (p.Phe283Tyr) c.*279T>A (n.*279T>A) | |
| 18 | g.59269198A>C | CA402584189 | RAX | c.847T>G (p.Phe283Val) c.*278T>G (n.*278T>G) | |
| 18 | g.59269198A>G | CA402584186 | RAX | c.847T>C (p.Phe283Leu) c.*278T>C (n.*278T>C) | |
| 18 | g.59269198A>T | CA402584188 | RAX | c.847T>A (p.Phe283Ile) c.*278T>A (n.*278T>A) | |
| 18 | g.59269199G>A | CA504297156 | RAX | c.846C>T (p.Pro282=) c.*277C>T (n.*277C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.59269199G>C | CA504297159 | RAX | c.846C>G (p.Pro282=) c.*277C>G (n.*277C>G) | |
| 18 | g.59269199G= | CA2306830856 | RAX | c.846C= (p.Pro282=) c.*277C= (n.*277C=) | |
| 18 | g.59269199G>T | CA504297161 | RAX | c.846C>A (p.Pro282=) c.*277C>A (n.*277C>A) | dbSNP gnomAD v4 |
| 18 | g.59269200G>A | CA402584192 | RAX | c.845C>T (p.Pro282Leu) c.*276C>T (n.*276C>T) | |
| 18 | g.59269200G>C | CA402584194 | RAX | c.845C>G (p.Pro282Arg) c.*276C>G (n.*276C>G) | |
| 18 | g.59269200G>T | CA402584195 | RAX | c.845C>A (p.Pro282His) c.*276C>A (n.*276C>A) | gnomAD v4 |
| 18 | g.59269202_59269204del | CA2812677034 | RAX | c.843_845del (p.Pro282del) c.*274_*276del (n.*274_*276del) | |
| 18 | g.59269205_59269210dup | CA630396731 | RAX | c.840_845dup (p.Pro282_Phe283insProPro) c.*271_*276dup (n.*271_*276dup) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.59269201G>A | CA402584198 | RAX | c.844C>T (p.Pro282Ser) c.*275C>T (n.*275C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.59269201G>C | CA402584200 | RAX | c.844C>G (p.Pro282Ala) c.*275C>G (n.*275C>G) | |
| 18 | g.59269201G= | CA2306830858 | RAX | c.844C= (p.Pro282=) c.*275C= (n.*275C=) | |
| 18 | g.59269201G>T | CA402584203 | RAX | c.844C>A (p.Pro282Thr) c.*275C>A (n.*275C>A) | gnomAD v4 |
| 18 | g.59269202C>A | CA504297171 | RAX | c.843G>T (p.Pro281=) c.*274G>T (n.*274G>T) | gnomAD v4 |
| 18 | g.59269202C>G | CA504297172 | RAX | c.843G>C (p.Pro281=) c.*274G>C (n.*274G>C) | |
| 18 | g.59269202C>T | CA504297167 | RAX | c.843G>A (p.Pro281=) c.*274G>A (n.*274G>A) | gnomAD v4 |
| 18 | g.59269203G>A | CA402584205 | RAX | c.842C>T (p.Pro281Leu) c.*273C>T (n.*273C>T) | dbSNP |
| 18 | g.59269203G>C | CA402584207 | RAX | c.842C>G (p.Pro281Arg) c.*273C>G (n.*273C>G) | |
| 18 | g.59269203G= | CA2306830860 | RAX | c.842C= (p.Pro281=) c.*273C= (n.*273C=) | |
| 18 | g.59269203G>T | CA402584208 | RAX | c.842C>A (p.Pro281Gln) c.*273C>A (n.*273C>A) | |
| 18 | g.59269204G>A | CA402584210 | RAX | c.841C>T (p.Pro281Ser) c.*272C>T (n.*272C>T) | |
| 18 | g.59269204G>C | CA402584212 | RAX | c.841C>G (p.Pro281Ala) c.*272C>G (n.*272C>G) | |
| 18 | g.59269204G>T | CA402584213 | RAX | c.841C>A (p.Pro281Thr) c.*272C>A (n.*272C>A) | |
| 18 | g.59269205A= | CA2306830864 | RAX | c.840T= (p.Pro280=) c.*271T= (n.*271T=) | |
| 18 | g.59269205A>C | CA300981323 | RAX | c.840T>G (p.Pro280=) c.*271T>G (n.*271T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.59269205A>G | CA504297182 | RAX | c.840T>C (p.Pro280=) c.*271T>C (n.*271T>C) | gnomAD v4 |
| 18 | g.59269205A>T | CA504297180 | RAX | c.840T>A (p.Pro280=) c.*271T>A (n.*271T>A) | |
| 18 | g.59269205_59269211delinsAGGCGGC | CA2306830862 | RAX | c.834_840delinsGCCGCCT (p.Pro278=) c.*265_*271delinsGCCGCCT (n.*265_*271delinsGCCGCCT) | |
| 18 | g.59269206G>A | CA402584221 | RAX | c.839C>T (p.Pro280Leu) c.*270C>T (n.*270C>T) | |
| 18 | g.59269206G>C | CA402584218 | RAX | c.839C>G (p.Pro280Arg) c.*270C>G (n.*270C>G) | |
| 18 | g.59269206G>T | CA402584217 | RAX | c.839C>A (p.Pro280His) c.*270C>A (n.*270C>A) | |
| 18 | g.59269214_59269216dup | CA8979264 | RAX | c.837_839dup (p.Pro280_Pro281insPro) c.*268_*270dup (n.*268_*270dup) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.59269211_59269216dup | CA630396743 | RAX | c.834_839dup (p.Pro280_Pro281insProPro) c.*265_*270dup (n.*265_*270dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.59269214_59269216del | CA2576515614 | RAX | c.837_839del (p.Pro280del) c.*268_*270del (n.*268_*270del) | gnomAD v4 |
| 18 | g.59269211_59269216del | CA2306830867 | RAX | c.834_839del (p.Pro279_Pro280del) c.*265_*270del (n.*265_*270del) | dbSNP gnomAD v4 |
| 18 | g.59269207G>A | CA402584225 | RAX | c.838C>T (p.Pro280Ser) c.*269C>T (n.*269C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.59269207G>C | CA402584223 | RAX | c.838C>G (p.Pro280Ala) c.*269C>G (n.*269C>G) | |
| 18 | g.59269207G= | CA2306830869 | RAX | c.838C= (p.Pro280=) c.*269C= (n.*269C=) | |
| 18 | g.59269207G>T | CA8979265 | RAX | c.838C>A (p.Pro280Thr) c.*269C>A (n.*269C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.59269208C>A | CA504296859 | RAX | c.837G>T (p.Pro279=) c.*268G>T (n.*268G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.59269208C= | CA2306830872 | RAX | c.837G= (p.Pro279=) c.*268G= (n.*268G=) | |
| 18 | g.59269208C>G | CA504296862 | RAX | c.837G>C (p.Pro279=) c.*268G>C (n.*268G>C) | |
| 18 | g.59269208C>T | CA504296864 | RAX | c.837G>A (p.Pro279=) c.*268G>A (n.*268G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.59269209G>A | CA402584229 | RAX | c.836C>T (p.Pro279Leu) c.*267C>T (n.*267C>T) | gnomAD v4 |
| 18 | g.59269209G>C | CA402584232 | RAX | c.836C>G (p.Pro279Arg) c.*267C>G (n.*267C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.59269209G= | CA2306830874 | RAX | c.836C= (p.Pro279=) c.*267C= (n.*267C=) | |
| 18 | g.59269209G>T | CA402584231 | RAX | c.836C>A (p.Pro279Gln) c.*267C>A (n.*267C>A) | dbSNP gnomAD v4 |
| 18 | g.59269210G>A | CA402584234 | RAX | c.835C>T (p.Pro279Ser) c.*266C>T (n.*266C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.59269210G>C | CA10651979 | RAX | c.835C>G (p.Pro279Ala) c.*266C>G (n.*266C>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.59269210G= | CA2306830878 | RAX | c.835C= (p.Pro279=) c.*266C= (n.*266C=) | |
| 18 | g.59269210G>T | CA402584237 | RAX | c.835C>A (p.Pro279Thr) c.*266C>A (n.*266C>A) | |
| 18 | g.59269211C>A | CA504296868 | RAX | c.834G>T (p.Pro278=) c.*265G>T (n.*265G>T) | gnomAD v4 |
| 18 | g.59269211C= | CA2306830882 | RAX | c.834G= (p.Pro278=) c.*265G= (n.*265G=) | |
| 18 | g.59269211C>G | CA504296869 | RAX | c.834G>C (p.Pro278=) c.*265G>C (n.*265G>C) | |
| 18 | g.59269211C>T | CA504296872 | RAX | c.834G>A (p.Pro278=) c.*265G>A (n.*265G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.59269212G>A | CA402584239 | RAX | c.833C>T (p.Pro278Leu) c.*264C>T (n.*264C>T) | gnomAD v4 |
| 18 | g.59269212G>C | CA402584241 | RAX | c.833C>G (p.Pro278Arg) c.*264C>G (n.*264C>G) | gnomAD v4 |
| 18 | g.59269212G= | CA2306830884 | RAX | c.833C= (p.Pro278=) c.*264C= (n.*264C=) | |
| 18 | g.59269212G>T | CA402584243 | RAX | c.833C>A (p.Pro278Gln) c.*264C>A (n.*264C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.59269216_59269221dup | CA2642011320 | RAX | c.828_833dup (p.Pro278_Pro279insProPro) c.*259_*264dup (n.*259_*264dup) | gnomAD v4 |
| 18 | g.59269213G>A | CA402584245 | RAX | c.832C>T (p.Pro278Ser) c.*263C>T (n.*263C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.59269213G>C | CA402584247 | RAX | c.832C>G (p.Pro278Ala) c.*263C>G (n.*263C>G) | |
| 18 | g.59269213G= | CA2306830886 | RAX | c.832C= (p.Pro278=) c.*263C= (n.*263C=) | |
| 18 | g.59269213G>T | CA402584249 | RAX | c.832C>A (p.Pro278Thr) c.*263C>A (n.*263C>A) | |
| 18 | g.59269214C>A | CA504296875 | RAX | c.831G>T (p.Pro277=) c.*262G>T (n.*262G>T) | gnomAD v4 |
| 18 | g.59269214C>G | CA504296876 | RAX | c.831G>C (p.Pro277=) c.*262G>C (n.*262G>C) | |
| 18 | g.59269214C>T | CA504296880 | RAX | c.831G>A (p.Pro277=) c.*262G>A (n.*262G>A) | gnomAD v4 |
| 18 | g.59269215G>A | CA402584251 | RAX | c.830C>T (p.Pro277Leu) c.*261C>T (n.*261C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.59269215G>C | CA402584253 | RAX | c.830C>G (p.Pro277Arg) c.*261C>G (n.*261C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.59269215G= | CA2306830888 | RAX | c.830C= (p.Pro277=) c.*261C= (n.*261C=) | |
| 18 | g.59269215G>T | CA8979266 | RAX | c.830C>A (p.Pro277Gln) c.*261C>A (n.*261C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 18 | g.59269216G>A | CA402584259 | RAX | c.829C>T (p.Pro277Ser) c.*260C>T (n.*260C>T) | dbSNP gnomAD v4 |
| 18 | g.59269216G>C | CA402584255 | RAX | c.829C>G (p.Pro277Ala) c.*260C>G (n.*260C>G) | |
| 18 | g.59269216G= | CA2306830890 | RAX | c.829C= (p.Pro277=) c.*260C= (n.*260C=) | |
| 18 | g.59269216G>T | CA402584257 | RAX | c.829C>A (p.Pro277Thr) c.*260C>A (n.*260C>A) | |
| 18 | g.59269217T>A | CA504296884 | RAX | c.828A>T (p.Pro276=) c.*259A>T (n.*259A>T) | |
| 18 | g.59269217T>C | CA504296885 | RAX | c.828A>G (p.Pro276=) c.*259A>G (n.*259A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.59269217T>G | CA504296887 | RAX | c.828A>C (p.Pro276=) c.*259A>C (n.*259A>C) | |
| 18 | g.59269217T= | CA2306830892 | RAX | c.828A= (p.Pro276=) c.*259A= (n.*259A=) | |
| 18 | g.59269218G>A | CA402584261 | RAX | c.827C>T (p.Pro276Leu) c.*258C>T (n.*258C>T) | |
| 18 | g.59269218G>C | CA402584263 | RAX | c.827C>G (p.Pro276Arg) c.*258C>G (n.*258C>G) | |
| 18 | g.59269218G>T | CA402584264 | RAX | c.827C>A (p.Pro276Gln) c.*258C>A (n.*258C>A) | gnomAD v4 |
| 18 | g.59269219_59269221dup | CA2576515615 | RAX | c.825_827dup (p.Pro276_Pro277insPro) c.*256_*258dup (n.*256_*258dup) | gnomAD v4 |
| 18 | g.59269219G>A | CA402584266 | RAX | c.826C>T (p.Pro276Ser) c.*257C>T (n.*257C>T) | gnomAD v4 |
| 18 | g.59269219G>C | CA402584267 | RAX | c.826C>G (p.Pro276Ala) c.*257C>G (n.*257C>G) | |
| 18 | g.59269219G>T | CA402584269 | RAX | c.826C>A (p.Pro276Thr) c.*257C>A (n.*257C>A) | gnomAD v4 |
| 18 | g.59269220C>A | CA504296891 | RAX | c.825G>T (p.Thr275=) c.*256G>T (n.*256G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.59269220C= | CA2306830894 | RAX | c.825G= (p.Thr275=) c.*256G= (n.*256G=) | |
| 18 | g.59269220C>G | CA504296894 | RAX | c.825G>C (p.Thr275=) c.*256G>C (n.*256G>C) | |
| 18 | g.59269220C>T | CA504296896 | RAX | c.825G>A (p.Thr275=) c.*256G>A (n.*256G>A) | gnomAD v4 |
| 18 | g.59269221G>A | CA402584270 | RAX | c.824C>T (p.Thr275Met) c.*255C>T (n.*255C>T) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 18 | g.59269221G>C | CA402584271 | RAX | c.824C>G (p.Thr275Arg) c.*255C>G (n.*255C>G) | gnomAD v4 |
| 18 | g.59269221G= | CA2306830896 | RAX | c.824C= (p.Thr275=) c.*255C= (n.*255C=) | |
| 18 | g.59269221G>T | CA402584273 | RAX | c.824C>A (p.Thr275Lys) c.*255C>A (n.*255C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.59269222T>A | CA402584276 | RAX | c.823A>T (p.Thr275Ser) c.*254A>T (n.*254A>T) | |
| 18 | g.59269222T>C | CA402584277 | RAX | c.823A>G (p.Thr275Ala) c.*254A>G (n.*254A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.59269222T>G | CA402584279 | RAX | c.823A>C (p.Thr275Pro) c.*254A>C (n.*254A>C) | |
| 18 | g.59269222T= | CA2306830899 | RAX | c.823A= (p.Thr275=) c.*254A= (n.*254A=) | |
| 18 | g.59269223G>A | CA504296898 | RAX | c.822C>T (p.Tyr274=) c.*253C>T (n.*253C>T) | gnomAD v4 |
| 18 | g.59269223G>C | CA402584281 | RAX | c.822C>G (p.Tyr274Ter) c.*253C>G (n.*253C>G) | |
| 18 | g.59269223G>T | CA402584282 | RAX | c.822C>A (p.Tyr274Ter) c.*253C>A (n.*253C>A) | gnomAD v4 |
| 18 | g.59269224T>A | CA402584284 | RAX | c.821A>T (p.Tyr274Phe) c.*252A>T (n.*252A>T) | |
| 18 | g.59269224T>C | CA402584286 | RAX | c.821A>G (p.Tyr274Cys) c.*252A>G (n.*252A>G) | |
| 18 | g.59269224T>G | CA402584287 | RAX | c.821A>C (p.Tyr274Ser) c.*252A>C (n.*252A>C) | |
| 18 | g.59269225A>C | CA402584291 | RAX | c.820T>G (p.Tyr274Asp) c.*251T>G (n.*251T>G) | |
| 18 | g.59269225A>G | CA402584292 | RAX | c.820T>C (p.Tyr274His) c.*251T>C (n.*251T>C) | |
| 18 | g.59269225A>T | CA402584294 | RAX | c.820T>A (p.Tyr274Asn) c.*251T>A (n.*251T>A) | |
| 18 | g.59269225_59269228delinsAGCT | CA2306830902 | RAX | c.817_820delinsAGCT (p.Ser273=) c.*248_*251delinsAGCT (n.*248_*251delinsAGCT) | |
| 18 | g.59269226G>A | CA504296903 | RAX | c.819C>T (p.Ser273=) c.*250C>T (n.*250C>T) | dbSNP |
| 18 | g.59269226G>C | CA402584298 | RAX | c.819C>G (p.Ser273Arg) c.*250C>G (n.*250C>G) | |
| 18 | g.59269226G= | CA2306830904 | RAX | c.819C= (p.Ser273=) c.*250C= (n.*250C=) | |
| 18 | g.59269226G>T | CA402584296 | RAX | c.819C>A (p.Ser273Arg) c.*250C>A (n.*250C>A) | gnomAD v4 |
| 18 | g.59269227_59269229del | CA300981328 | RAX | c.817_819del (p.Ser273del) c.*248_*250del (n.*248_*250del) | dbSNP |
| 18 | g.59269227C>A | CA402584299 | RAX | c.818G>T (p.Ser273Ile) c.*249G>T (n.*249G>T) | |
| 18 | g.59269227C= | CA2306830906 | RAX | c.818G= (p.Ser273=) c.*249G= (n.*249G=) | |
| 18 | g.59269227C>G | CA402584300 | RAX | c.818G>C (p.Ser273Thr) c.*249G>C (n.*249G>C) | |
| 18 | g.59269227C>T | CA8979267 | RAX | c.818G>A (p.Ser273Asn) c.*249G>A (n.*249G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.59269228T>A | CA402584303 | RAX | c.817A>T (p.Ser273Cys) c.*248A>T (n.*248A>T) | |
| 18 | g.59269228T>C | CA402584304 | RAX | c.817A>G (p.Ser273Gly) c.*248A>G (n.*248A>G) | |
| 18 | g.59269228T>G | CA402584306 | RAX | c.817A>C (p.Ser273Arg) c.*248A>C (n.*248A>C) | |
| 18 | g.59269228T= | CA2306830910 | RAX | c.817A= (p.Ser273=) c.*248A= (n.*248A=) | |
| 18 | g.59269228_59269262delinsTGGCAGGCAGGCTCTGCGCCGGCGGCCCGAAGCCC | CA2306830909 | RAX | c.783_817delinsGGGCTTCGGGCCGCCGGCGCAGAGCCTGCCTGCCA (p.Pro261=) c.*214_*248delinsGGGCTTCGGGCCGCCGGCGCAGAGCCTGCCTGCCA (n.*214_*248delinsGGGCTTCGGGCCGCCGGCGCAGAGCCTGCCTGCCA) | |
| 18 | g.59269229G>A | CA504296909 | RAX | c.816C>T (p.Ala272=) c.*247C>T (n.*247C>T) | dbSNP gnomAD v2 |
| 18 | g.59269229G>C | CA504296911 | RAX | c.816C>G (p.Ala272=) c.*247C>G (n.*247C>G) | |
| 18 | g.59269229G= | CA2306830915 | RAX | c.816C= (p.Ala272=) c.*247C= (n.*247C=) | |
| 18 | g.59269229G>T | CA504296910 | RAX | c.816C>A (p.Ala272=) c.*247C>A (n.*247C>A) | |
| 18 | g.59269232_59269250dup | CA781007745 | RAX | c.798_816dup (p.Ser273GlyfsTer?) c.*229_*247dup (n.*229_*247dup) | dbSNP |
| 18 | g.59269236_59269269del | CA630396744 | RAX | c.783_816del (p.Gly262AlafsTer12) c.*214_*247del (n.*214_*247del) | dbSNP gnomAD v2 |
| 18 | g.59269230G>A | CA402584309 | RAX | c.815C>T (p.Ala272Val) c.*246C>T (n.*246C>T) | gnomAD v4 |
| 18 | g.59269230G>C | CA402584312 | RAX | c.815C>G (p.Ala272Gly) c.*246C>G (n.*246C>G) | |
| 18 | g.59269230G>T | CA402584310 | RAX | c.815C>A (p.Ala272Asp) c.*246C>A (n.*246C>A) | gnomAD v4 |
| 18 | g.59269231C>A | CA402584314 | RAX | c.814G>T (p.Ala272Ser) c.*245G>T (n.*245G>T) | gnomAD v4 |
| 18 | g.59269231C= | CA2306830920 | RAX | c.814G= (p.Ala272=) c.*245G= (n.*245G=) | |
| 18 | g.59269231C>G | CA402584315 | RAX | c.814G>C (p.Ala272Pro) c.*245G>C (n.*245G>C) | |
| 18 | g.59269231C>T | CA300981348 | RAX | c.814G>A (p.Ala272Thr) c.*245G>A (n.*245G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.59269232A= | CA2306830922 | RAX | c.813T= (p.Pro271=) c.*244T= (n.*244T=) | |
| 18 | g.59269232A>C | CA504296919 | RAX | c.813T>G (p.Pro271=) c.*244T>G (n.*244T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.59269232A>G | CA504296920 | RAX | c.813T>C (p.Pro271=) c.*244T>C (n.*244T>C) | |
| 18 | g.59269232A>T | CA504296922 | RAX | c.813T>A (p.Pro271=) c.*244T>A (n.*244T>A) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.59269233G>A | CA402584319 | RAX | c.812C>T (p.Pro271Leu) c.*243C>T (n.*243C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.59269233G>C | CA402584321 | RAX | c.812C>G (p.Pro271Arg) c.*243C>G (n.*243C>G) | |
| 18 | g.59269233G= | CA2306830925 | RAX | c.812C= (p.Pro271=) c.*243C= (n.*243C=) | |
| 18 | g.59269233G>T | CA402584323 | RAX | c.812C>A (p.Pro271His) c.*243C>A (n.*243C>A) | |
| 18 | g.59269245_59269274del | CA2642011321 | RAX | c.783_812del (p.Gly262_Pro271del) c.*214_*243del (n.*214_*243del) | gnomAD v4 |
| 18 | g.59269234G>A | CA402584325 | RAX | c.811C>T (p.Pro271Ser) c.*242C>T (n.*242C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.59269234G>C | CA402584327 | RAX | c.811C>G (p.Pro271Ala) c.*242C>G (n.*242C>G) | |
| 18 | g.59269234G= | CA2306830930 | RAX | c.811C= (p.Pro271=) c.*242C= (n.*242C=) | |
| 18 | g.59269234G>T | CA402584329 | RAX | c.811C>A (p.Pro271Thr) c.*242C>A (n.*242C>A) | |
| 18 | g.59269235del | CA2576515616 | RAX | c.810del (p.Pro271LeufsTer14) c.*241del (n.*241del) | gnomAD v4 |
| 18 | g.59269235C>A | CA504296933 | RAX | c.810G>T (p.Leu270=) c.*241G>T (n.*241G>T) | gnomAD v4 |
| 18 | g.59269235C>G | CA504296936 | RAX | c.810G>C (p.Leu270=) c.*241G>C (n.*241G>C) | |
| 18 | g.59269235C>T | CA504296935 | RAX | c.810G>A (p.Leu270=) c.*241G>A (n.*241G>A) | gnomAD v4 |
| 18 | g.59269236A= | CA2306830934 | RAX | c.809T= (p.Leu270=) c.*240T= (n.*240T=) | |
| 18 | g.59269236A>C | CA402584331 | RAX | c.809T>G (p.Leu270Arg) c.*240T>G (n.*240T>G) | |
| 18 | g.59269236A>G | CA402584333 | RAX | c.809T>C (p.Leu270Pro) c.*240T>C (n.*240T>C) | |
| 18 | g.59269236A>T | CA402584335 | RAX | c.809T>A (p.Leu270Gln) c.*240T>A (n.*240T>A) | dbSNP |
| 18 | g.59269237G>A | CA504296939 | RAX | c.808C>T (p.Leu270=) c.*239C>T (n.*239C>T) | gnomAD v4 |
| 18 | g.59269237G>C | CA402584338 | RAX | c.808C>G (p.Leu270Val) c.*239C>G (n.*239C>G) | |
| 18 | g.59269237G>T | CA402584336 | RAX | c.808C>A (p.Leu270Met) c.*239C>A (n.*239C>A) | gnomAD v4 |
| 18 | g.59269238dup | CA781007761 | RAX | c.808dup (p.Leu270ProfsTer?) c.*239dup (n.*239dup) | dbSNP |
| 18 | g.59269238G>A | CA504296941 | RAX | c.807C>T (p.Ser269=) c.*238C>T (n.*238C>T) | gnomAD v4 |
| 18 | g.59269238G>C | CA402584340 | RAX | c.807C>G (p.Ser269Arg) c.*238C>G (n.*238C>G) | |
| 18 | g.59269238G= | CA2306830938 | RAX | c.807C= (p.Ser269=) c.*238C= (n.*238C=) | |
| 18 | g.59269238G>T | CA402584342 | RAX | c.807C>A (p.Ser269Arg) c.*238C>A (n.*238C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.59269239C>A | CA402584344 | RAX | c.806G>T (p.Ser269Ile) c.*237G>T (n.*237G>T) | gnomAD v4 |
| 18 | g.59269239C>G | CA402584346 | RAX | c.806G>C (p.Ser269Thr) c.*237G>C (n.*237G>C) | |
| 18 | g.59269239C>T | CA402584347 | RAX | c.806G>A (p.Ser269Asn) c.*237G>A (n.*237G>A) | gnomAD v4 |
| 18 | g.59269240T>A | CA402584350 | RAX | c.805A>T (p.Ser269Cys) c.*236A>T (n.*236A>T) | |
| 18 | g.59269240T>C | CA402584352 | RAX | c.805A>G (p.Ser269Gly) c.*236A>G (n.*236A>G) | |
| 18 | g.59269240T>G | CA402584353 | RAX | c.805A>C (p.Ser269Arg) c.*236A>C (n.*236A>C) | |
| 18 | g.59269241C>A | CA402584356 | RAX | c.804G>T (p.Gln268His) c.*235G>T (n.*235G>T) | |
| 18 | g.59269241C= | CA2306830940 | RAX | c.804G= (p.Gln268=) c.*235G= (n.*235G=) | |
| 18 | g.59269241C>G | CA402584358 | RAX | c.804G>C (p.Gln268His) c.*235G>C (n.*235G>C) | gnomAD v4 |
| 18 | g.59269241C>T | CA8979268 | RAX | c.804G>A (p.Gln268=) c.*235G>A (n.*235G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.59269242T>A | CA402584361 | RAX | c.803A>T (p.Gln268Leu) c.*234A>T (n.*234A>T) | |
| 18 | g.59269242T>C | CA402584362 | RAX | c.803A>G (p.Gln268Arg) c.*234A>G (n.*234A>G) | dbSNP gnomAD v4 |
| 18 | g.59269242T>G | CA402584364 | RAX | c.803A>C (p.Gln268Pro) c.*234A>C (n.*234A>C) | |
| 18 | g.59269242T= | CA2306830943 | RAX | c.803A= (p.Gln268=) c.*234A= (n.*234A=) | |
| 18 | g.59269243G>A | CA402584370 | RAX | c.802C>T (p.Gln268Ter) c.*233C>T (n.*233C>T) | gnomAD v4 |
| 18 | g.59269243G>C | CA402584367 | RAX | c.802C>G (p.Gln268Glu) c.*233C>G (n.*233C>G) | |
| 18 | g.59269243G>T | CA402584368 | RAX | c.802C>A (p.Gln268Lys) c.*233C>A (n.*233C>A) | gnomAD v4 |
| 18 | g.59269244C>A | CA504296963 | RAX | c.801G>T (p.Ala267=) c.*232G>T (n.*232G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.59269244C= | CA2306830945 | RAX | c.801G= (p.Ala267=) c.*232G= (n.*232G=) | |
| 18 | g.59269244C>G | CA504296959 | RAX | c.801G>C (p.Ala267=) c.*232G>C (n.*232G>C) | gnomAD v4 |
| 18 | g.59269244C>T | CA504296962 | RAX | c.801G>A (p.Ala267=) c.*232G>A (n.*232G>A) | gnomAD v4 |
| 18 | g.59269245G>A | CA8979269 | RAX | c.800C>T (p.Ala267Val) c.*231C>T (n.*231C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.59269245G>C | CA402584372 | RAX | c.800C>G (p.Ala267Gly) c.*231C>G (n.*231C>G) | gnomAD v4 |
| 18 | g.59269245G= | CA2306830949 | RAX | c.800C= (p.Ala267=) c.*231C= (n.*231C=) | |
| 18 | g.59269245G>T | CA402584374 | RAX | c.800C>A (p.Ala267Glu) c.*231C>A (n.*231C>A) | |
| 18 | g.59269246C>A | CA402584377 | RAX | c.799G>T (p.Ala267Ser) c.*230G>T (n.*230G>T) | |
| 18 | g.59269246C= | CA2306830954 | RAX | c.799G= (p.Ala267=) c.*230G= (n.*230G=) | |
| 18 | g.59269246C>G | CA402584378 | RAX | c.799G>C (p.Ala267Pro) c.*230G>C (n.*230G>C) | dbSNP |
| 18 | g.59269246C>T | CA402584380 | RAX | c.799G>A (p.Ala267Thr) c.*230G>A (n.*230G>A) | dbSNP gnomAD v4 |