| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.50626016C>A | CA412172101 | ARSA | c.1027G>T (p.Ala343Ser) c.769G>T (p.Ala257Ser) | |
| 22 | g.50626016C= | CA2410958795 | ARSA | c.1027G= (p.Ala343=) c.769G= (p.Ala257=) | |
| 22 | g.50626016C>G | CA412172106 | ARSA | c.1027G>C (p.Ala343Pro) c.769G>C (p.Ala257Pro) | |
| 22 | g.50626016C>T | CA412172108 | ARSA | c.1027G>A (p.Ala343Thr) c.769G>A (p.Ala257Thr) | dbSNP gnomAD v4 |
| 22 | g.50626017C>A | CA515248889 | ARSA | c.1026G>T (p.Leu342=) c.768G>T (p.Leu256=) | gnomAD v4 |
| 22 | g.50626017C= | CA2410958796 | ARSA | c.1026G= (p.Leu342=) c.768G= (p.Leu256=) | |
| 22 | g.50626017C>G | CA515248890 | ARSA | c.1026G>C (p.Leu342=) c.768G>C (p.Leu256=) | |
| 22 | g.50626017C>T | CA515248891 | ARSA | c.1026G>A (p.Leu342=) c.768G>A (p.Leu256=) | dbSNP gnomAD v2 |
| 22 | g.50626018A>C | CA412172113 | ARSA | c.1025T>G (p.Leu342Arg) c.767T>G (p.Leu256Arg) | |
| 22 | g.50626018A>G | CA412172126 | ARSA | c.1025T>C (p.Leu342Pro) c.767T>C (p.Leu256Pro) | |
| 22 | g.50626018A>T | CA412172131 | ARSA | c.1025T>A (p.Leu342Gln) c.767T>A (p.Leu256Gln) | |
| 22 | g.50626019G>A | CA515248892 | ARSA | c.1024C>T (p.Leu342=) c.766C>T (p.Leu256=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50626019G>C | CA412172136 | ARSA | c.1024C>G (p.Leu342Val) c.766C>G (p.Leu256Val) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50626019G= | CA2410958797 | ARSA | c.1024C= (p.Leu342=) c.766C= (p.Leu256=) | |
| 22 | g.50626019G>T | CA412172142 | ARSA | c.1024C>A (p.Leu342Met) c.766C>A (p.Leu256Met) | |
| 22 | g.50626020G>A | CA515248893 | ARSA | c.1023C>T (p.Thr341=) c.765C>T (p.Thr255=) | gnomAD v4 |
| 22 | g.50626020G>C | CA515248894 | ARSA | c.1023C>G (p.Thr341=) c.765C>G (p.Thr255=) | |
| 22 | g.50626020G>T | CA515248895 | ARSA | c.1023C>A (p.Thr341=) c.765C>A (p.Thr255=) | |
| 22 | g.50626021G>A | CA412172152 | ARSA | c.1022C>T (p.Thr341Ile) c.764C>T (p.Thr255Ile) | |
| 22 | g.50626021G>C | CA412172156 | ARSA | c.1022C>G (p.Thr341Ser) c.764C>G (p.Thr255Ser) | |
| 22 | g.50626021G>T | CA412172160 | ARSA | c.1022C>A (p.Thr341Asn) c.764C>A (p.Thr255Asn) | |
| 22 | g.50626022T>A | CA412172176 | ARSA | c.1021A>T (p.Thr341Ser) c.763A>T (p.Thr255Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 22 | g.50626022T>C | CA412172177 | ARSA | c.1021A>G (p.Thr341Ala) c.763A>G (p.Thr255Ala) | |
| 22 | g.50626022T>G | CA412172178 | ARSA | c.1021A>C (p.Thr341Pro) c.763A>C (p.Thr255Pro) | |
| 22 | g.50626022T= | CA2410958798 | ARSA | c.1021A= (p.Thr341=) c.763A= (p.Thr255=) | |
| 22 | g.50626023A= | CA2410958799 | ARSA | c.1020T= (p.Pro340=) c.762T= (p.Pro254=) | |
| 22 | g.50626023A>C | CA515248896 | ARSA | c.1020T>G (p.Pro340=) c.762T>G (p.Pro254=) | |
| 22 | g.50626023A>G | CA515248898 | ARSA | c.1020T>C (p.Pro340=) c.762T>C (p.Pro254=) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50626023A>T | CA515248897 | ARSA | c.1020T>A (p.Pro340=) c.762T>A (p.Pro254=) | |
| 22 | g.50626024G>A | CA412172185 | ARSA | c.1019C>T (p.Pro340Leu) c.761C>T (p.Pro254Leu) | |
| 22 | g.50626024G>C | CA412172184 | ARSA | c.1019C>G (p.Pro340Arg) c.761C>G (p.Pro254Arg) | |
| 22 | g.50626024G>T | CA412172183 | ARSA | c.1019C>A (p.Pro340His) c.761C>A (p.Pro254His) | |
| 22 | g.50626025G>A | CA412172193 | ARSA | c.1018C>T (p.Pro340Ser) c.760C>T (p.Pro254Ser) | gnomAD v4 |
| 22 | g.50626025G>C | CA412172188 | ARSA | c.1018C>G (p.Pro340Ala) c.760C>G (p.Pro254Ala) | |
| 22 | g.50626025G>T | CA412172192 | ARSA | c.1018C>A (p.Pro340Thr) c.760C>A (p.Pro254Thr) | gnomAD v4 |
| 22 | g.50626026C>A | CA515248899 | ARSA | c.1017G>T (p.Leu339=) c.759G>T (p.Leu253=) | gnomAD v4 |
| 22 | g.50626026C= | CA2410958800 | ARSA | c.1017G= (p.Leu339=) c.759G= (p.Leu253=) | |
| 22 | g.50626026C>G | CA515248900 | ARSA | c.1017G>C (p.Leu339=) c.759G>C (p.Leu253=) | |
| 22 | g.50626026C>T | CA515248901 | ARSA | c.1017G>A (p.Leu339=) c.759G>A (p.Leu253=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50626027A>C | CA412172194 | ARSA | c.1016T>G (p.Leu339Arg) c.758T>G (p.Leu253Arg) | |
| 22 | g.50626027A>G | CA412172198 | ARSA | c.1016T>C (p.Leu339Pro) c.758T>C (p.Leu253Pro) | |
| 22 | g.50626027A>T | CA412172201 | ARSA | c.1016T>A (p.Leu339Gln) c.758T>A (p.Leu253Gln) | |
| 22 | g.50626028G>A | CA515248902 | ARSA | c.1015C>T (p.Leu339=) c.757C>T (p.Leu253=) | ClinVar |
| 22 | g.50626028G>C | CA412172207 | ARSA | c.1015C>G (p.Leu339Val) c.757C>G (p.Leu253Val) | |
| 22 | g.50626028G>T | CA412172214 | ARSA | c.1015C>A (p.Leu339Met) c.757C>A (p.Leu253Met) | |
| 22 | g.50626029C>A | CA515248903 | ARSA | c.1014G>T (p.Leu338=) c.756G>T (p.Leu252=) | gnomAD v4 |
| 22 | g.50626029C>G | CA515248904 | ARSA | c.1014G>C (p.Leu338=) c.756G>C (p.Leu252=) | |
| 22 | g.50626029C>T | CA515248905 | ARSA | c.1014G>A (p.Leu338=) c.756G>A (p.Leu252=) | gnomAD v4 |
| 22 | g.50626030A>C | CA412172222 | ARSA | c.1013T>G (p.Leu338Arg) c.755T>G (p.Leu252Arg) | |
| 22 | g.50626030A>G | CA412172224 | ARSA | c.1013T>C (p.Leu338Pro) c.755T>C (p.Leu252Pro) | gnomAD v4 |
| 22 | g.50626030A>T | CA412172223 | ARSA | c.1013T>A (p.Leu338Gln) c.755T>A (p.Leu252Gln) | |
| 22 | g.50626031G>A | CA515248906 | ARSA | c.1012C>T (p.Leu338=) c.754C>T (p.Leu252=) | |
| 22 | g.50626031G>C | CA412172227 | ARSA | c.1012C>G (p.Leu338Val) c.754C>G (p.Leu252Val) | ClinVar dbSNP |
| 22 | g.50626031G>T | CA412172233 | ARSA | c.1012C>A (p.Leu338Met) c.754C>A (p.Leu252Met) | |
| 22 | g.50626032G>A | CA515248907 | ARSA | c.1011C>T (p.Asp337=) c.753C>T (p.Asp251=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50626032G>C | CA412172238 | ARSA | c.1011C>G (p.Asp337Glu) c.753C>G (p.Asp251Glu) | |
| 22 | g.50626032G= | CA2410958801 | ARSA | c.1011C= (p.Asp337=) c.753C= (p.Asp251=) | |
| 22 | g.50626032G>T | CA412172255 | ARSA | c.1011C>A (p.Asp337Glu) c.753C>A (p.Asp251Glu) | gnomAD v4 |
| 22 | g.50626033T>A | CA115989 | ARSA | c.1010A>T (p.Asp337Val) c.752A>T (p.Asp251Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50626033T>C | CA412172275 | ARSA | c.1010A>G (p.Asp337Gly) c.752A>G (p.Asp251Gly) | gnomAD v4 |
| 22 | g.50626033T>G | CA412172288 | ARSA | c.1010A>C (p.Asp337Ala) c.752A>C (p.Asp251Ala) | |
| 22 | g.50626033T= | CA2410958802 | ARSA | c.1010A= (p.Asp337=) c.752A= (p.Asp251=) | |
| 22 | g.50626034C>A | CA412172292 | ARSA | c.1009G>T (p.Asp337Tyr) c.751G>T (p.Asp251Tyr) | |
| 22 | g.50626034C>G | CA412172293 | ARSA | c.1009G>C (p.Asp337His) c.751G>C (p.Asp251His) | |
| 22 | g.50626034C>T | CA412172296 | ARSA | c.1009G>A (p.Asp337Asn) c.751G>A (p.Asp251Asn) | |
| 22 | g.50626035C>A | CA515248908 | ARSA | c.1008G>T (p.Leu336=) c.750G>T (p.Leu250=) | |
| 22 | g.50626035C>G | CA515248909 | ARSA | c.1008G>C (p.Leu336=) c.750G>C (p.Leu250=) | |
| 22 | g.50626035C>T | CA515248910 | ARSA | c.1008G>A (p.Leu336=) c.750G>A (p.Leu250=) | |
| 22 | g.50626036A= | CA2410958803 | ARSA | c.1007T= (p.Leu336=) c.749T= (p.Leu250=) | |
| 22 | g.50626036A>C | CA412172299 | ARSA | c.1007T>G (p.Leu336Arg) c.749T>G (p.Leu250Arg) | dbSNP |
| 22 | g.50626036A>G | CA412172304 | ARSA | c.1007T>C (p.Leu336Pro) c.749T>C (p.Leu250Pro) | ClinVar dbSNP gnomAD v4 |
| 22 | g.50626036A>T | CA412172318 | ARSA | c.1007T>A (p.Leu336Gln) c.749T>A (p.Leu250Gln) | |
| 22 | g.50626037G>A | CA10324840 | ARSA | c.1006C>T (p.Leu336=) c.748C>T (p.Leu250=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50626037G>C | CA412172336 | ARSA | c.1006C>G (p.Leu336Val) c.748C>G (p.Leu250Val) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50626037G= | CA2410958804 | ARSA | c.1006C= (p.Leu336=) c.748C= (p.Leu250=) | |
| 22 | g.50626037G>T | CA412172339 | ARSA | c.1006C>A (p.Leu336Met) c.748C>A (p.Leu250Met) | gnomAD v4 |
| 22 | g.50626039del | CA2577767905 | ARSA | c.1006del (p.Leu336TrpfsTer?) c.748del (p.Leu250TrpfsTer?) | |
| 22 | g.50626038G>A | CA515248911 | ARSA | c.1005C>T (p.Ser335=) c.747C>T (p.Ser249=) | ClinVar dbSNP gnomAD v4 COSMIC |
| 22 | g.50626038G>C | CA515248912 | ARSA | c.1005C>G (p.Ser335=) c.747C>G (p.Ser249=) | ClinVar |
| 22 | g.50626038G= | CA2410958805 | ARSA | c.1005C= (p.Ser335=) c.747C= (p.Ser249=) | |
| 22 | g.50626038G>T | CA10324841 | ARSA | c.1005C>A (p.Ser335=) c.747C>A (p.Ser249=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50626039G>A | CA412172364 | ARSA | c.1004C>T (p.Ser335Phe) c.746C>T (p.Ser249Phe) | |
| 22 | g.50626039G>C | CA412172365 | ARSA | c.1004C>G (p.Ser335Cys) c.746C>G (p.Ser249Cys) | |
| 22 | g.50626039G>T | CA412172370 | ARSA | c.1004C>A (p.Ser335Tyr) c.746C>A (p.Ser249Tyr) | gnomAD v4 |
| 22 | g.50626040A>C | CA412172374 | ARSA | c.1003T>G (p.Ser335Ala) c.745T>G (p.Ser249Ala) | |
| 22 | g.50626040A>G | CA412172379 | ARSA | c.1003T>C (p.Ser335Pro) c.745T>C (p.Ser249Pro) | |
| 22 | g.50626040A>T | CA412172377 | ARSA | c.1003T>A (p.Ser335Thr) c.745T>A (p.Ser249Thr) | |
| 22 | g.50626044_50626051del | CA2657592206 | ARSA | c.996_1003del (p.Ala333ProfsTer24) c.738_745del (p.Ala247ProfsTer24) | gnomAD v4 |
| 22 | g.50626041G>A | CA10324842 | ARSA | c.1002C>T (p.Ser334=) c.744C>T (p.Ser248=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50626041G>C | CA412172384 | ARSA | c.1002C>G (p.Ser334Arg) c.744C>G (p.Ser248Arg) | |
| 22 | g.50626041G= | CA2410958806 | ARSA | c.1002C= (p.Ser334=) c.744C= (p.Ser248=) | |
| 22 | g.50626041G>T | CA412172386 | ARSA | c.1002C>A (p.Ser334Arg) c.744C>A (p.Ser248Arg) | |
| 22 | g.50626042C>A | CA412172395 | ARSA | c.1001G>T (p.Ser334Ile) c.743G>T (p.Ser248Ile) | gnomAD v4 |
| 22 | g.50626042C>G | CA412172396 | ARSA | c.1001G>C (p.Ser334Thr) c.743G>C (p.Ser248Thr) | |
| 22 | g.50626042C>T | CA412172397 | ARSA | c.1001G>A (p.Ser334Asn) c.743G>A (p.Ser248Asn) | gnomAD v4 |
| 22 | g.50626043T>A | CA412172401 | ARSA | c.1000A>T (p.Ser334Cys) c.742A>T (p.Ser248Cys) | |
| 22 | g.50626043T>C | CA412172402 | ARSA | c.1000A>G (p.Ser334Gly) c.742A>G (p.Ser248Gly) | dbSNP gnomAD v2 |
| 22 | g.50626043T>G | CA412172403 | ARSA | c.1000A>C (p.Ser334Arg) c.742A>C (p.Ser248Arg) | dbSNP gnomAD v2 |
| 22 | g.50626043T= | CA2410958807 | ARSA | c.1000A= (p.Ser334=) c.742A= (p.Ser248=) | |
| 22 | g.50626044G>A | CA10324844 | ARSA | c.999C>T (p.Ala333=) c.741C>T (p.Ala247=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50626044G>C | CA515248913 | ARSA | c.999C>G (p.Ala333=) c.741C>G (p.Ala247=) | gnomAD v4 |
| 22 | g.50626044G= | CA2410958808 | ARSA | c.999C= (p.Ala333=) c.741C= (p.Ala247=) | |
| 22 | g.50626044G>T | CA10324843 | ARSA | c.999C>A (p.Ala333=) c.741C>A (p.Ala247=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50626045G>A | CA412172421 | ARSA | c.998C>T (p.Ala333Val) c.740C>T (p.Ala247Val) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50626045G>C | CA412172418 | ARSA | c.998C>G (p.Ala333Gly) c.740C>G (p.Ala247Gly) | |
| 22 | g.50626045G= | CA2410958809 | ARSA | c.998C= (p.Ala333=) c.740C= (p.Ala247=) | |
| 22 | g.50626045G>T | CA412172415 | ARSA | c.998C>A (p.Ala333Asp) c.740C>A (p.Ala247Asp) | gnomAD v4 |
| 22 | g.50626046C>A | CA412172425 | ARSA | c.997G>T (p.Ala333Ser) c.739G>T (p.Ala247Ser) | gnomAD v4 |
| 22 | g.50626046C>G | CA412172431 | ARSA | c.997G>C (p.Ala333Pro) c.739G>C (p.Ala247Pro) | |
| 22 | g.50626046C>T | CA412172437 | ARSA | c.997G>A (p.Ala333Thr) c.739G>A (p.Ala247Thr) | gnomAD v4 |
| 22 | g.50626047C>A | CA515248914 | ARSA | c.996G>T (p.Leu332=) c.738G>T (p.Leu246=) | gnomAD v4 |
| 22 | g.50626047C>G | CA515248915 | ARSA | c.996G>C (p.Leu332=) c.738G>C (p.Leu246=) | |
| 22 | g.50626047C>T | CA515248916 | ARSA | c.996G>A (p.Leu332=) c.738G>A (p.Leu246=) | |
| 22 | g.50626048A>C | CA412172471 | ARSA | c.995T>G (p.Leu332Arg) c.737T>G (p.Leu246Arg) | |
| 22 | g.50626048A>G | CA412172477 | ARSA | c.995T>C (p.Leu332Pro) c.737T>C (p.Leu246Pro) | gnomAD v4 |
| 22 | g.50626048A>T | CA412172490 | ARSA | c.995T>A (p.Leu332Gln) c.737T>A (p.Leu246Gln) | |
| 22 | g.50626049G>A | CA515248917 | ARSA | c.994C>T (p.Leu332=) c.736C>T (p.Leu246=) | gnomAD v4 |
| 22 | g.50626049G>C | CA412172498 | ARSA | c.994C>G (p.Leu332Val) c.736C>G (p.Leu246Val) | |
| 22 | g.50626049G>T | CA412172501 | ARSA | c.994C>A (p.Leu332Met) c.736C>A (p.Leu246Met) | gnomAD v4 COSMIC |
| 22 | g.50626050C>A | CA412172506 | ARSA | c.993G>T (p.Glu331Asp) c.735G>T (p.Glu245Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50626050C= | CA2410958810 | ARSA | c.993G= (p.Glu331=) c.735G= (p.Glu245=) | |
| 22 | g.50626050C>G | CA412172508 | ARSA | c.993G>C (p.Glu331Asp) c.735G>C (p.Glu245Asp) | |
| 22 | g.50626050C>T | CA515248918 | ARSA | c.993G>A (p.Glu331=) c.735G>A (p.Glu245=) | gnomAD v4 |
| 22 | g.50626050dup | CA2657592219 | ARSA | c.993dup (p.Leu332AlafsTer28) c.735dup (p.Leu246AlafsTer28) | gnomAD v4 |
| 22 | g.50626051T>A | CA412172510 | ARSA | c.992A>T (p.Glu331Val) c.734A>T (p.Glu245Val) | |
| 22 | g.50626051T>C | CA412172514 | ARSA | c.992A>G (p.Glu331Gly) c.734A>G (p.Glu245Gly) | ClinVar |
| 22 | g.50626051T>G | CA412172521 | ARSA | c.992A>C (p.Glu331Ala) c.734A>C (p.Glu245Ala) | |
| 22 | g.50626052C>A | CA278427 | ARSA | c.991G>T (p.Glu331Ter) c.733G>T (p.Glu245Ter) | ClinVar dbSNP gnomAD v4 |
| 22 | g.50626052C= | CA2410958811 | ARSA | c.991G= (p.Glu331=) c.733G= (p.Glu245=) | |
| 22 | g.50626052C>G | CA412172534 | ARSA | c.991G>C (p.Glu331Gln) c.733G>C (p.Glu245Gln) | |
| 22 | g.50626052C>T | CA412172524 | ARSA | c.991G>A (p.Glu331Lys) c.733G>A (p.Glu245Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50626053G>A | CA10324845 | ARSA | c.990C>T (p.His330=) c.732C>T (p.His244=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50626053G>C | CA412172562 | ARSA | c.990C>G (p.His330Gln) c.732C>G (p.His244Gln) | |
| 22 | g.50626053G= | CA2410958812 | ARSA | c.990C= (p.His330=) c.732C= (p.His244=) | |
| 22 | g.50626053G>T | CA412172552 | ARSA | c.990C>A (p.His330Gln) c.732C>A (p.His244Gln) | COSMIC |
| 22 | g.50626054T>A | CA412172563 | ARSA | c.989A>T (p.His330Leu) c.731A>T (p.His244Leu) | |
| 22 | g.50626054T>C | CA412172571 | ARSA | c.989A>G (p.His330Arg) c.731A>G (p.His244Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50626054T>G | CA412172567 | ARSA | c.989A>C (p.His330Pro) c.731A>C (p.His244Pro) | |
| 22 | g.50626054T= | CA2410958813 | ARSA | c.989A= (p.His330=) c.731A= (p.His244=) | |
| 22 | g.50626055G>A | CA412172573 | ARSA | c.988C>T (p.His330Tyr) c.730C>T (p.His244Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50626055G>C | CA412172576 | ARSA | c.988C>G (p.His330Asp) c.730C>G (p.His244Asp) | |
| 22 | g.50626055G= | CA2410958814 | ARSA | c.988C= (p.His330=) c.730C= (p.His244=) | |
| 22 | g.50626055G>T | CA412172589 | ARSA | c.988C>A (p.His330Asn) c.730C>A (p.His244Asn) | gnomAD v4 |
| 22 | g.50626057dup | CA2695231026 | ARSA | c.988dup (p.His330ProfsTer30) c.730dup (p.His244ProfsTer30) | |
| 22 | g.50626056G>A | CA515248921 | ARSA | c.987C>T (p.Thr329=) c.729C>T (p.Thr243=) | |
| 22 | g.50626056G>C | CA515248920 | ARSA | c.987C>G (p.Thr329=) c.729C>G (p.Thr243=) | |
| 22 | g.50626056G>T | CA515248919 | ARSA | c.987C>A (p.Thr329=) c.729C>A (p.Thr243=) | gnomAD v4 |
| 22 | g.50626057G>A | CA278425 | ARSA | c.986C>T (p.Thr329Ile) c.728C>T (p.Thr243Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50626057G>C | CA412172611 | ARSA | c.986C>G (p.Thr329Ser) c.728C>G (p.Thr243Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50626057G= | CA2410958815 | ARSA | c.986C= (p.Thr329=) c.728C= (p.Thr243=) | |
| 22 | g.50626057G>T | CA412172620 | ARSA | c.986C>A (p.Thr329Asn) c.728C>A (p.Thr243Asn) | |
| 22 | g.50626058T>A | CA412172638 | ARSA | c.985A>T (p.Thr329Ser) c.727A>T (p.Thr243Ser) | |
| 22 | g.50626058T>C | CA412172644 | ARSA | c.985A>G (p.Thr329Ala) c.727A>G (p.Thr243Ala) | gnomAD v4 |
| 22 | g.50626058T>G | CA412172655 | ARSA | c.985A>C (p.Thr329Pro) c.727A>C (p.Thr243Pro) | |
| 22 | g.50626059C>A | CA515248924 | ARSA | c.984G>T (p.Val328=) c.726G>T (p.Val242=) | gnomAD v4 |
| 22 | g.50626059C>G | CA515248922 | ARSA | c.984G>C (p.Val328=) c.726G>C (p.Val242=) | |
| 22 | g.50626059C>T | CA515248923 | ARSA | c.984G>A (p.Val328=) c.726G>A (p.Val242=) | |
| 22 | g.50626060A>C | CA412172682 | ARSA | c.983T>G (p.Val328Gly) c.725T>G (p.Val242Gly) | |
| 22 | g.50626060A>G | CA412172672 | ARSA | c.983T>C (p.Val328Ala) c.725T>C (p.Val242Ala) | |
| 22 | g.50626060A>T | CA412172666 | ARSA | c.983T>A (p.Val328Glu) c.725T>A (p.Val242Glu) | |
| 22 | g.50626061C>A | CA412172688 | ARSA | c.982G>T (p.Val328Leu) c.724G>T (p.Val242Leu) | |
| 22 | g.50626061C= | CA2410958816 | ARSA | c.982G= (p.Val328=) c.724G= (p.Val242=) | |
| 22 | g.50626061C>G | CA412172694 | ARSA | c.982G>C (p.Val328Leu) c.724G>C (p.Val242Leu) | |
| 22 | g.50626061C>T | CA10324846 | ARSA | c.982G>A (p.Val328Met) c.724G>A (p.Val242Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50626062G>A | CA10324847 | ARSA | c.981C>T (p.Gly327=) c.723C>T (p.Gly241=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 22 | g.50626062G>C | CA515248925 | ARSA | c.981C>G (p.Gly327=) c.723C>G (p.Gly241=) | |
| 22 | g.50626062G= | CA2410958817 | ARSA | c.981C= (p.Gly327=) c.723C= (p.Gly241=) | |
| 22 | g.50626062G>T | CA515248926 | ARSA | c.981C>A (p.Gly327=) c.723C>A (p.Gly241=) | gnomAD v4 |
| 22 | g.50626063C>A | CA412172710 | ARSA | c.980G>T (p.Gly327Val) c.722G>T (p.Gly241Val) | gnomAD v4 |
| 22 | g.50626063C= | CA2410958818 | ARSA | c.980G= (p.Gly327=) c.722G= (p.Gly241=) | |
| 22 | g.50626063C>G | CA412172715 | ARSA | c.980G>C (p.Gly327Ala) c.722G>C (p.Gly241Ala) | |
| 22 | g.50626063C>T | CA325531318 | ARSA | c.980G>A (p.Gly327Asp) c.722G>A (p.Gly241Asp) | dbSNP |
| 22 | g.50626064del | CA2657592244 | ARSA | c.980del c.722del | gnomAD v4 |
| 22 | g.50626064C>A | CA412172725 | ARSA | c.980-1G>T (n.980-1G>T) c.722-1G>T (n.722-1G>T) | gnomAD v4 |
| 22 | g.50626064C>G | CA412172728 | ARSA | c.980-1G>C (n.980-1G>C) c.722-1G>C (n.722-1G>C) | |
| 22 | g.50626064C>T | CA412172729 | ARSA | c.980-1G>A (n.980-1G>A) c.722-1G>A (n.722-1G>A) | gnomAD v4 |
| 22 | g.50626065T>A | CA412172736 | ARSA | c.980-2A>T (n.980-2A>T) c.722-2A>T (n.722-2A>T) | |
| 22 | g.50626065T>C | CA412172738 | ARSA | c.980-2A>G (n.980-2A>G) c.722-2A>G (n.722-2A>G) | gnomAD v4 |
| 22 | g.50626065T>G | CA10324848 | ARSA | c.980-2A>C (n.980-2A>C) c.722-2A>C (n.722-2A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50626065T= | CA2410958819 | ARSA | c.980-2A= (n.980-2A=) c.722-2A= (n.722-2A=) | |
| 22 | g.50626066G>A | CA2410958821 | ARSA | c.980-3C>T (n.980-3C>T) c.722-3C>T (n.722-3C>T) | dbSNP gnomAD v4 |
| 22 | g.50626066G= | CA2410958820 | ARSA | c.980-3C= (n.980-3C=) c.722-3C= (n.722-3C=) | |
| 22 | g.50626066G>T | CA2410958822 | ARSA | c.980-3C>A (n.980-3C>A) c.722-3C>A (n.722-3C>A) | dbSNP gnomAD v4 |
| 22 | g.50626067G>A | CA2657592250 | ARSA | c.980-4C>T (n.980-4C>T) c.722-4C>T (n.722-4C>T) | gnomAD v4 |
| 22 | g.50626068G>A | CA2657592252 | ARSA | c.980-5C>T (n.980-5C>T) c.722-5C>T (n.722-5C>T) | dbSNP gnomAD v4 |
| 22 | g.50626068G= | CA2410958823 | ARSA | c.980-5C= (n.980-5C=) c.722-5C= (n.722-5C=) | |
| 22 | g.50626068G>T | CA10324849 | ARSA | c.980-5C>A (n.980-5C>A) c.722-5C>A (n.722-5C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50626069G>A | CA1026680624 | ARSA | c.980-6C>T (n.980-6C>T) c.722-6C>T (n.722-6C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50626069G>C | CA640358654 | ARSA | c.980-6C>G (n.980-6C>G) c.722-6C>G (n.722-6C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50626069G= | CA2410958824 | ARSA | c.980-6C= (n.980-6C=) c.722-6C= (n.722-6C=) | |
| 22 | g.50626069G>T | CA2657592256 | ARSA | c.980-6C>A (n.980-6C>A) c.722-6C>A (n.722-6C>A) | gnomAD v4 |
| 22 | g.50626070G>A | CA640358655 | ARSA | c.980-7C>T (n.980-7C>T) c.722-7C>T (n.722-7C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50626070G= | CA2410958825 | ARSA | c.980-7C= (n.980-7C=) c.722-7C= (n.722-7C=) | |
| 22 | g.50626070G>T | CA2657592262 | ARSA | c.980-7C>A (n.980-7C>A) c.722-7C>A (n.722-7C>A) | gnomAD v4 |
| 22 | g.50626071C>A | CA640358656 | ARSA | c.980-8G>T (n.980-8G>T) c.722-8G>T (n.722-8G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50626071C= | CA2410958826 | ARSA | c.980-8G= (n.980-8G=) c.722-8G= (n.722-8G=) | |
| 22 | g.50626071C>G | CA2657592265 | ARSA | c.980-8G>C (n.980-8G>C) c.722-8G>C (n.722-8G>C) | gnomAD v4 |
| 22 | g.50626071C>T | CA2573158310 | ARSA | c.980-8G>A (n.980-8G>A) c.722-8G>A (n.722-8G>A) | ClinVar dbSNP |
| 22 | g.50626073G>A | CA640358657 | ARSA | c.980-10C>T (n.980-10C>T) c.722-10C>T (n.722-10C>T) | ClinVar dbSNP gnomAD v2 |
| 22 | g.50626073G= | CA2410958827 | ARSA | c.980-10C= (n.980-10C=) c.722-10C= (n.722-10C=) | |
| 22 | g.50626074G>A | CA2657592267 | ARSA | c.980-11C>T (n.980-11C>T) c.722-11C>T (n.722-11C>T) | gnomAD v4 |
| 22 | g.50626075A>G | CA2657592268 | ARSA | c.980-12T>C (n.980-12T>C) c.722-12T>C (n.722-12T>C) | gnomAD v4 |
| 22 | g.50626076G>A | CA2657592269 | ARSA | c.980-13C>T (n.980-13C>T) c.722-13C>T (n.722-13C>T) | ClinVar gnomAD v4 |
| 22 | g.50626076G>T | CA2657592270 | ARSA | c.980-13C>A (n.980-13C>A) c.722-13C>A (n.722-13C>A) | gnomAD v4 |
| 22 | g.50626077G>A | CA2657592271 | ARSA | c.980-14C>T (n.980-14C>T) c.722-14C>T (n.722-14C>T) | gnomAD v4 |
| 22 | g.50626078C>A | CA2657592273 | ARSA | c.980-15G>T (n.980-15G>T) c.722-15G>T (n.722-15G>T) | gnomAD v4 |
| 22 | g.50626078C= | CA2410958828 | ARSA | c.980-15G= (n.980-15G=) c.722-15G= (n.722-15G=) | |
| 22 | g.50626078C>T | CA754068611 | ARSA | c.980-15G>A (n.980-15G>A) c.722-15G>A (n.722-15G>A) | dbSNP |
| 22 | g.50626079T>C | CA10324850 | ARSA | c.980-16A>G (n.980-16A>G) c.722-16A>G (n.722-16A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50626079T= | CA2410958829 | ARSA | c.980-16A= (n.980-16A=) c.722-16A= (n.722-16A=) | |
| 22 | g.50626080G>A | CA2657592275 | ARSA | c.980-17C>T (n.980-17C>T) c.722-17C>T (n.722-17C>T) | ClinVar gnomAD v4 |
| 22 | g.50626080G>T | CA2657592277 | ARSA | c.980-17C>A (n.980-17C>A) c.722-17C>A (n.722-17C>A) | gnomAD v4 |
| 22 | g.50626085_50626088del | CA2657592278 | ARSA | c.980-21_980-18del (n.980-21_980-18del) c.722-21_722-18del (n.722-21_722-18del) | gnomAD v4 |
| 22 | g.50626083C>A | CA325531320 | ARSA | c.980-20G>T (n.980-20G>T) c.722-20G>T (n.722-20G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50626083C= | CA2410958830 | ARSA | c.980-20G= (n.980-20G=) c.722-20G= (n.722-20G=) | |
| 22 | g.50626083C>G | CA2657592281 | ARSA | c.980-20G>C (n.980-20G>C) c.722-20G>C (n.722-20G>C) | gnomAD v4 |
| 22 | g.50626083C>T | CA1026680635 | ARSA | c.980-20G>A (n.980-20G>A) c.722-20G>A (n.722-20G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50626083_50626084delinsAG | CA2580100081 | ARSA | c.980-21_980-20delinsCT (n.980-21_980-20delinsCT) c.722-21_722-20delinsCT (n.722-21_722-20delinsCT) | ClinVar |
| 22 | g.50626084A= | CA2410958831 | ARSA | c.980-21T= (n.980-21T=) c.722-21T= (n.722-21T=) | |
| 22 | g.50626084A>G | CA325531321 | ARSA | c.980-21T>C (n.980-21T>C) c.722-21T>C (n.722-21T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50626085G>A | CA2657592287 | ARSA | c.980-22C>T (n.980-22C>T) c.722-22C>T (n.722-22C>T) | gnomAD v4 |
| 22 | g.50626085G>C | CA2657592285 | ARSA | c.980-22C>G (n.980-22C>G) c.722-22C>G (n.722-22C>G) | gnomAD v4 |
| 22 | g.50626085G= | CA2410958833 | ARSA | c.980-22C= (n.980-22C=) c.722-22C= (n.722-22C=) | |
| 22 | g.50626085G>T | CA2410958832 | ARSA | c.980-22C>A (n.980-22C>A) c.722-22C>A (n.722-22C>A) | dbSNP |
| 22 | g.50626086T>C | CA2657592288 | ARSA | c.980-23A>G (n.980-23A>G) c.722-23A>G (n.722-23A>G) | gnomAD v4 |
| 22 | g.50626087C>A | CA2502353791 | ARSA | c.980-24G>T (n.980-24G>T) c.722-24G>T (n.722-24G>T) | |
| 22 | g.50626087C= | CA2410958834 | ARSA | c.980-24G= (n.980-24G=) c.722-24G= (n.722-24G=) | |
| 22 | g.50626087C>T | CA640358658 | ARSA | c.980-24G>A (n.980-24G>A) c.722-24G>A (n.722-24G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50626088A>G | CA2657592289 | ARSA | c.980-25T>C (n.980-25T>C) c.722-25T>C (n.722-25T>C) | gnomAD v4 |
| 22 | g.50626091C>A | CA2410958836 | ARSA | c.980-28G>T (n.980-28G>T) c.722-28G>T (n.722-28G>T) | dbSNP gnomAD v4 |
| 22 | g.50626091C= | CA2410958835 | ARSA | c.980-28G= (n.980-28G=) c.722-28G= (n.722-28G=) | |
| 22 | g.50626091C>G | CA2410958837 | ARSA | c.980-28G>C (n.980-28G>C) c.722-28G>C (n.722-28G>C) | dbSNP |
| 22 | g.50626092A>G | CA2657592290 | ARSA | c.980-29T>C (n.980-29T>C) c.722-29T>C (n.722-29T>C) | gnomAD v4 |
| 22 | g.50626093G>C | CA2657592291 | ARSA | c.980-30C>G (n.980-30C>G) c.722-30C>G (n.722-30C>G) | gnomAD v4 |
| 22 | g.50626093G= | CA2410958838 | ARSA | c.980-30C= (n.980-30C=) c.722-30C= (n.722-30C=) | |
| 22 | g.50626093G>T | CA2410958839 | ARSA | c.980-30C>A (n.980-30C>A) c.722-30C>A (n.722-30C>A) | dbSNP |
| 22 | g.50626094T>C | CA2657592293 | ARSA | c.980-31A>G (n.980-31A>G) c.722-31A>G (n.722-31A>G) | gnomAD v4 |
| 22 | g.50626096C>A | CA2657592295 | ARSA | c.980-33G>T (n.980-33G>T) c.722-33G>T (n.722-33G>T) | gnomAD v4 |
| 22 | g.50626096C= | CA2410958840 | ARSA | c.980-33G= (n.980-33G=) c.722-33G= (n.722-33G=) | |
| 22 | g.50626096C>T | CA10324851 | ARSA | c.980-33G>A (n.980-33G>A) c.722-33G>A (n.722-33G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50626097G>A | CA10324852 | ARSA | c.980-34C>T (n.980-34C>T) c.722-34C>T (n.722-34C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 22 | g.50626097G>C | CA2657592298 | ARSA | c.980-34C>G (n.980-34C>G) c.722-34C>G (n.722-34C>G) | gnomAD v4 |
| 22 | g.50626097G= | CA2410958841 | ARSA | c.980-34C= (n.980-34C=) c.722-34C= (n.722-34C=) | |
| 22 | g.50626097G>T | CA2657592299 | ARSA | c.980-34C>A (n.980-34C>A) c.722-34C>A (n.722-34C>A) | gnomAD v4 |
| 22 | g.50626098C= | CA2410958842 | ARSA | c.980-35G= (n.980-35G=) c.722-35G= (n.722-35G=) | |
| 22 | g.50626098C>T | CA325531322 | ARSA | c.980-35G>A (n.980-35G>A) c.722-35G>A (n.722-35G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50626099C= | CA2410958843 | ARSA | c.980-36G= (n.980-36G=) c.722-36G= (n.722-36G=) | |
| 22 | g.50626099C>T | CA640358659 | ARSA | c.980-36G>A (n.980-36G>A) c.722-36G>A (n.722-36G>A) | dbSNP gnomAD v2 |
| 22 | g.50626100A= | CA2410958844 | ARSA | c.980-37T= (n.980-37T=) c.722-37T= (n.722-37T=) | |
| 22 | g.50626100A>G | CA2410958845 | ARSA | c.980-37T>C (n.980-37T>C) c.722-37T>C (n.722-37T>C) | dbSNP |
| 22 | g.50626101T>C | CA640358660 | ARSA | c.980-38A>G (n.980-38A>G) c.722-38A>G (n.722-38A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50626101T= | CA2410958846 | ARSA | c.980-38A= (n.980-38A=) c.722-38A= (n.722-38A=) | |
| 22 | g.50626102C>A | CA2657592311 | ARSA | c.980-39G>T (n.980-39G>T) c.722-39G>T (n.722-39G>T) | gnomAD v4 |
| 22 | g.50626102C= | CA2410958847 | ARSA | c.980-39G= (n.980-39G=) c.722-39G= (n.722-39G=) | |
| 22 | g.50626102C>T | CA10324853 | ARSA | c.980-39G>A (n.980-39G>A) c.722-39G>A (n.722-39G>A) | dbSNP ExAC gnomAD v4 |
| 22 | g.50626104A>C | CA2657592314 | ARSA | c.980-41T>G (n.980-41T>G) c.722-41T>G (n.722-41T>G) | gnomAD v4 |
| 22 | g.50626105G>C | CA2657592316 | ARSA | c.980-42C>G (n.980-42C>G) c.722-42C>G (n.722-42C>G) | gnomAD v4 |
| 22 | g.50626106G>A | CA2577767906 | ARSA | c.980-43C>T (n.980-43C>T) c.722-43C>T (n.722-43C>T) | gnomAD v4 |
| 22 | g.50626106G= | CA2410958848 | ARSA | c.980-43C= (n.980-43C=) c.722-43C= (n.722-43C=) | |
| 22 | g.50626106G>T | CA10324854 | ARSA | c.980-43C>A (n.980-43C>A) c.722-43C>A (n.722-43C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50626109G>A | CA640358661 | ARSA | c.980-46C>T (n.980-46C>T) c.722-46C>T (n.722-46C>T) | dbSNP gnomAD v2 |
| 22 | g.50626109G= | CA2410958849 | ARSA | c.980-46C= (n.980-46C=) c.722-46C= (n.722-46C=) | |
| 22 | g.50626112del | CA2657592318 | ARSA | c.980-46del (n.980-46del) c.722-46del (n.722-46del) | gnomAD v4 |
| 22 | g.50626110G>A | CA2657592320 | ARSA | c.979+44C>T (n.979+44C>T) c.721+44C>T (n.721+44C>T) | gnomAD v4 |
| 22 | g.50626110G>T | CA2657592322 | ARSA | c.979+44C>A (n.979+44C>A) c.721+44C>A (n.721+44C>A) | gnomAD v4 |
| 22 | g.50626111G>A | CA2410958851 | ARSA | c.979+43C>T (n.979+43C>T) c.721+43C>T (n.721+43C>T) | dbSNP gnomAD v4 |
| 22 | g.50626111G= | CA2410958850 | ARSA | c.979+43C= (n.979+43C=) c.721+43C= (n.721+43C=) | |
| 22 | g.50626112G>A | CA2577767907 | ARSA | c.979+42C>T (n.979+42C>T) c.721+42C>T (n.721+42C>T) | gnomAD v4 |
| 22 | g.50626114G>C | CA2657592326 | ARSA | c.979+40C>G (n.979+40C>G) c.721+40C>G (n.721+40C>G) | gnomAD v4 |
| 22 | g.50626115G>T | CA657868334 | ARSA | c.979+39C>A (n.979+39C>A) c.721+39C>A (n.721+39C>A) | COSMIC |
| 22 | g.50626116T>A | CA2580693246 | ARSA | c.979+38A>T (n.979+38A>T) c.721+38A>T (n.721+38A>T) | gnomAD v4 |
| 22 | g.50626116T>C | CA10324855 | ARSA | c.979+38A>G (n.979+38A>G) c.721+38A>G (n.721+38A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50626116T>G | CA2410958853 | ARSA | c.979+38A>C (n.979+38A>C) c.721+38A>C (n.721+38A>C) | dbSNP gnomAD v4 |
| 22 | g.50626116T= | CA2410958852 | ARSA | c.979+38A= (n.979+38A=) c.721+38A= (n.721+38A=) |