Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.50627030_50627032del | CA645612060 | ARSA | c.488_490del (p.Cys163del) c.230_232del (p.Cys77del) n.992_994del | COSMIC |
22 | g.50627031A>C | CA412177980 | ARSA | c.487T>G (p.Cys163Gly) c.229T>G (p.Cys77Gly) n.991T>G | |
22 | g.50627031A>G | CA412177985 | ARSA | c.487T>C (p.Cys163Arg) c.229T>C (p.Cys77Arg) n.991T>C | |
22 | g.50627031A>T | CA412177991 | ARSA | c.487T>A (p.Cys163Ser) c.229T>A (p.Cys77Ser) n.991T>A | |
22 | g.50627032G>A | CA515391518 | ARSA | c.486C>T (p.Thr162=) c.228C>T (p.Thr76=) n.990C>T | ClinVar |
22 | g.50627032G>C | CA515391519 | ARSA | c.486C>G (p.Thr162=) c.228C>G (p.Thr76=) n.990C>G | |
22 | g.50627032G>T | CA515391520 | ARSA | c.486C>A (p.Thr162=) c.228C>A (p.Thr76=) n.990C>A | |
22 | g.50627033G>A | CA412177996 | ARSA | c.485C>T (p.Thr162Ile) c.227C>T (p.Thr76Ile) n.989C>T | |
22 | g.50627033G>C | CA10324998 | ARSA | c.485C>G (p.Thr162Ser) c.227C>G (p.Thr76Ser) n.989C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50627033G= | CA2410959375 | ARSA | c.485C= (p.Thr162=) c.227C= (p.Thr76=) n.989C= | |
22 | g.50627033G>T | CA412177997 | ARSA | c.485C>A (p.Thr162Asn) c.227C>A (p.Thr76Asn) n.989C>A | |
22 | g.50627034T>A | CA412178001 | ARSA | c.484A>T (p.Thr162Ser) c.226A>T (p.Thr76Ser) n.988A>T | |
22 | g.50627034T>C | CA412178004 | ARSA | c.484A>G (p.Thr162Ala) c.226A>G (p.Thr76Ala) n.988A>G | ClinVar gnomAD v4 |
22 | g.50627034T>G | CA412178009 | ARSA | c.484A>C (p.Thr162Pro) c.226A>C (p.Thr76Pro) n.988A>C | |
22 | g.50627035C>A | CA515391524 | ARSA | c.483G>T (p.Leu161=) c.225G>T (p.Leu75=) n.987G>T | |
22 | g.50627035C>G | CA515391525 | ARSA | c.483G>C (p.Leu161=) c.225G>C (p.Leu75=) n.987G>C | |
22 | g.50627035C>T | CA515391526 | ARSA | c.483G>A (p.Leu161=) c.225G>A (p.Leu75=) n.987G>A | |
22 | g.50627036A>C | CA412178016 | ARSA | c.482T>G (p.Leu161Arg) c.224T>G (p.Leu75Arg) n.986T>G | |
22 | g.50627036A>G | CA412178019 | ARSA | c.482T>C (p.Leu161Pro) c.224T>C (p.Leu75Pro) n.986T>C | gnomAD v4 |
22 | g.50627036A>T | CA412178020 | ARSA | c.482T>A (p.Leu161Gln) c.224T>A (p.Leu75Gln) n.986T>A | |
22 | g.50627036_50627056del | CA2580099982 | ARSA | c.466-4_482del c.208-4_224del n.966_986del | ClinVar |
22 | g.50627037G>A | CA515391528 | ARSA | c.481C>T (p.Leu161=) c.223C>T (p.Leu75=) n.985C>T | |
22 | g.50627037G>C | CA412178022 | ARSA | c.481C>G (p.Leu161Val) c.223C>G (p.Leu75Val) n.985C>G | |
22 | g.50627037G>T | CA412178025 | ARSA | c.481C>A (p.Leu161Met) c.223C>A (p.Leu75Met) n.985C>A | |
22 | g.50627038G>A | CA515391530 | ARSA | c.480C>T (p.Asn160=) c.222C>T (p.Asn74=) n.984C>T | gnomAD v4 |
22 | g.50627038G>C | CA412178031 | ARSA | c.480C>G (p.Asn160Lys) c.222C>G (p.Asn74Lys) n.984C>G | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50627038G= | CA2410959376 | ARSA | c.480C= (p.Asn160=) c.222C= (p.Asn74=) n.984C= | |
22 | g.50627038G>T | CA412178034 | ARSA | c.480C>A (p.Asn160Lys) c.222C>A (p.Asn74Lys) n.984C>A | |
22 | g.50627039T>A | CA412178038 | ARSA | c.479A>T (p.Asn160Ile) c.221A>T (p.Asn74Ile) n.983A>T | |
22 | g.50627039T>C | CA412178041 | ARSA | c.479A>G (p.Asn160Ser) c.221A>G (p.Asn74Ser) n.983A>G | |
22 | g.50627039T>G | CA412178037 | ARSA | c.479A>C (p.Asn160Thr) c.221A>C (p.Asn74Thr) n.983A>C | |
22 | g.50627040T>A | CA412178045 | ARSA | c.478A>T (p.Asn160Tyr) c.220A>T (p.Asn74Tyr) n.982A>T | |
22 | g.50627040T>C | CA412178048 | ARSA | c.478A>G (p.Asn160Asp) c.220A>G (p.Asn74Asp) n.982A>G | gnomAD v4 |
22 | g.50627040T>G | CA412178052 | ARSA | c.478A>C (p.Asn160His) c.220A>C (p.Asn74His) n.982A>C | |
22 | g.50627041C>A | CA412178055 | ARSA | c.477G>T (p.Gln159His) c.219G>T (p.Gln73His) n.981G>T | |
22 | g.50627041C= | CA2410959377 | ARSA | c.477G= (p.Gln159=) c.219G= (p.Gln73=) n.981G= | |
22 | g.50627041C>G | CA412178086 | ARSA | c.477G>C (p.Gln159His) c.219G>C (p.Gln73His) n.981G>C | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50627041C>T | CA515391533 | ARSA | c.477G>A (p.Gln159=) c.219G>A (p.Gln73=) n.981G>A | ClinVar gnomAD v4 |
22 | g.50627042T>A | CA412178088 | ARSA | c.476A>T (p.Gln159Leu) c.218A>T (p.Gln73Leu) n.980A>T | |
22 | g.50627042T>C | CA412178096 | ARSA | c.476A>G (p.Gln159Arg) c.218A>G (p.Gln73Arg) n.980A>G | |
22 | g.50627042T>G | CA412178100 | ARSA | c.476A>C (p.Gln159Pro) c.218A>C (p.Gln73Pro) n.980A>C | |
22 | g.50627042_50627060delinsTGGCAGGGGCCCTGAGGCG | CA2410959378 | ARSA | c.466-8_476delinsCGCCTCAGGGCCCCTGCCA c.208-8_218delinsCGCCTCAGGGCCCCTGCCA n.962_980delinsCGCCTCAGGGCCCCTGCCA | |
22 | g.50627043G>A | CA10324999 | ARSA | c.475C>T (p.Gln159Ter) c.217C>T (p.Gln73Ter) n.979C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50627043G>C | CA412178114 | ARSA | c.475C>G (p.Gln159Glu) c.217C>G (p.Gln73Glu) n.979C>G | |
22 | g.50627043G= | CA2410959379 | ARSA | c.475C= (p.Gln159=) c.217C= (p.Gln73=) n.979C= | |
22 | g.50627043G>T | CA412178121 | ARSA | c.475C>A (p.Gln159Lys) c.217C>A (p.Gln73Lys) n.979C>A | |
22 | g.50627048_50627065del | CA640358554 | ARSA | c.466-8_475del c.208-8_217del n.962_979del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50627044G>A | CA515391538 | ARSA | c.474C>T (p.Cys158=) c.216C>T (p.Cys72=) n.978C>T | |
22 | g.50627044G>C | CA412178126 | ARSA | c.474C>G (p.Cys158Trp) c.216C>G (p.Cys72Trp) n.978C>G | |
22 | g.50627044G= | CA2410959380 | ARSA | c.474C= (p.Cys158=) c.216C= (p.Cys72=) n.978C= |