Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.50627298_50627364del | CA2697552823 | ARSA | c.269_335del (p.Tyr90SerfsTer?) c.11_77del (p.Tyr4SerfsTer?) n.660_726del | ClinVar |
22 | g.50627310C>A | CA515391551 | ARSA | c.321G>T (p.Val107=) c.63G>T (p.Val21=) n.712G>T | gnomAD v4 |
22 | g.50627310C>G | CA515391553 | ARSA | c.321G>C (p.Val107=) c.63G>C (p.Val21=) n.712G>C | |
22 | g.50627310C>T | CA515391552 | ARSA | c.321G>A (p.Val107=) c.63G>A (p.Val21=) n.712G>A | |
22 | g.50627311A>C | CA412181244 | ARSA | c.320T>G (p.Val107Gly) c.62T>G (p.Val21Gly) n.711T>G | |
22 | g.50627311A>G | CA412181260 | ARSA | c.320T>C (p.Val107Ala) c.62T>C (p.Val21Ala) n.711T>C | |
22 | g.50627311A>T | CA412181249 | ARSA | c.320T>A (p.Val107Glu) c.62T>A (p.Val21Glu) n.711T>A | |
22 | g.50627312C>A | CA412181265 | ARSA | c.319G>T (p.Val107Leu) c.61G>T (p.Val21Leu) n.710G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50627312C= | CA2410959544 | ARSA | c.319G= (p.Val107=) c.61G= (p.Val21=) n.710G= | |
22 | g.50627312C>G | CA412181267 | ARSA | c.319G>C (p.Val107Leu) c.61G>C (p.Val21Leu) n.710G>C | |
22 | g.50627312C>T | CA412181266 | ARSA | c.319G>A (p.Val107Met) c.61G>A (p.Val21Met) n.710G>A | gnomAD v4 |
22 | g.50627313C>A | CA412181271 | ARSA | c.318G>T (p.Glu106Asp) c.60G>T (p.Glu20Asp) n.709G>T | gnomAD v4 |
22 | g.50627313C= | CA2410959545 | ARSA | c.318G= (p.Glu106=) c.60G= (p.Glu20=) n.709G= | |
22 | g.50627313C>G | CA412181277 | ARSA | c.318G>C (p.Glu106Asp) c.60G>C (p.Glu20Asp) n.709G>C | |
22 | g.50627313C>T | CA10325056 | ARSA | c.318G>A (p.Glu106=) c.60G>A (p.Glu20=) n.709G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50627314T>A | CA412181287 | ARSA | c.317A>T (p.Glu106Val) c.59A>T (p.Glu20Val) n.708A>T | |
22 | g.50627314T>C | CA412181289 | ARSA | c.317A>G (p.Glu106Gly) c.59A>G (p.Glu20Gly) n.708A>G | gnomAD v4 |
22 | g.50627314T>G | CA412181291 | ARSA | c.317A>C (p.Glu106Ala) c.59A>C (p.Glu20Ala) n.708A>C | |
22 | g.50627315C>A | CA412181292 | ARSA | c.316G>T (p.Glu106Ter) c.58G>T (p.Glu20Ter) n.707G>T | gnomAD v4 |
22 | g.50627315C>G | CA412181293 | ARSA | c.316G>C (p.Glu106Gln) c.58G>C (p.Glu20Gln) n.707G>C | |
22 | g.50627315C>T | CA412181297 | ARSA | c.316G>A (p.Glu106Lys) c.58G>A (p.Glu20Lys) n.707G>A | gnomAD v4 |
22 | g.50627316C>A | CA412181301 | ARSA | c.315G>T (p.Glu105Asp) c.57G>T (p.Glu19Asp) n.706G>T | |
22 | g.50627316C>G | CA412181303 | ARSA | c.315G>C (p.Glu105Asp) c.57G>C (p.Glu19Asp) n.706G>C | |
22 | g.50627316C>T | CA515391554 | ARSA | c.315G>A (p.Glu105=) c.57G>A (p.Glu19=) n.706G>A | |
22 | g.50627317T>A | CA412181316 | ARSA | c.314A>T (p.Glu105Val) c.56A>T (p.Glu19Val) n.705A>T | |
22 | g.50627317T>C | CA412181315 | ARSA | c.314A>G (p.Glu105Gly) c.56A>G (p.Glu19Gly) n.705A>G | gnomAD v4 |
22 | g.50627317T>G | CA412181311 | ARSA | c.314A>C (p.Glu105Ala) c.56A>C (p.Glu19Ala) n.705A>C | |
22 | g.50627318C>A | CA412181317 | ARSA | c.313G>T (p.Glu105Ter) c.55G>T (p.Glu19Ter) n.704G>T | gnomAD v4 |
22 | g.50627318C>G | CA412181318 | ARSA | c.313G>C (p.Glu105Gln) c.55G>C (p.Glu19Gln) n.704G>C | |
22 | g.50627318C>T | CA412181320 | ARSA | c.313G>A (p.Glu105Lys) c.55G>A (p.Glu19Lys) n.704G>A | |
22 | g.50627319C>A | CA515391555 | ARSA | c.312G>T (p.Leu104=) c.54G>T (p.Leu18=) n.703G>T | |
22 | g.50627319C>G | CA515391556 | ARSA | c.312G>C (p.Leu104=) c.54G>C (p.Leu18=) n.703G>C | |
22 | g.50627319C>T | CA515391557 | ARSA | c.312G>A (p.Leu104=) c.54G>A (p.Leu18=) n.703G>A | ClinVar |
22 | g.50627320del | CA2580099998 | ARSA | c.311del (p.Leu104ArgfsTer4) c.53del (p.Leu18ArgfsTer4) n.702del | ClinVar |
22 | g.50627320A= | CA2410959546 | ARSA | c.311T= (p.Leu104=) c.53T= (p.Leu18=) n.702T= | |
22 | g.50627320A>C | CA412181321 | ARSA | c.311T>G (p.Leu104Arg) c.53T>G (p.Leu18Arg) n.702T>G | gnomAD v4 |
22 | g.50627320A>G | CA325531593 | ARSA | c.311T>C (p.Leu104Pro) c.53T>C (p.Leu18Pro) n.702T>C | dbSNP gnomAD v4 |
22 | g.50627320A>T | CA412181340 | ARSA | c.311T>A (p.Leu104Gln) c.53T>A (p.Leu18Gln) n.702T>A | gnomAD v4 |
22 | g.50627321G>A | CA515391558 | ARSA | c.310C>T (p.Leu104=) c.52C>T (p.Leu18=) n.701C>T | ClinVar dbSNP gnomAD v4 |
22 | g.50627321G>C | CA412181348 | ARSA | c.310C>G (p.Leu104Val) c.52C>G (p.Leu18Val) n.701C>G | |
22 | g.50627321G>T | CA412181351 | ARSA | c.310C>A (p.Leu104Met) c.52C>A (p.Leu18Met) n.701C>A | gnomAD v4 |
22 | g.50627324del | CA2657593945 | ARSA | c.310del (p.Leu104TrpfsTer4) c.52del (p.Leu18TrpfsTer4) n.701del | gnomAD v4 |
22 | g.50627322G>A | CA10325057 | ARSA | c.309C>T (p.Pro103=) c.51C>T (p.Pro17=) n.700C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50627322G>C | CA515391559 | ARSA | c.309C>G (p.Pro103=) c.51C>G (p.Pro17=) n.700C>G | |
22 | g.50627322G= | CA2410959547 | ARSA | c.309C= (p.Pro103=) c.51C= (p.Pro17=) n.700C= | |
22 | g.50627322G>T | CA515391560 | ARSA | c.309C>A (p.Pro103=) c.51C>A (p.Pro17=) n.700C>A | |
22 | g.50627323G>A | CA412181367 | ARSA | c.308C>T (p.Pro103Leu) c.50C>T (p.Pro17Leu) n.699C>T | gnomAD v4 |
22 | g.50627323G>C | CA412181375 | ARSA | c.308C>G (p.Pro103Arg) c.50C>G (p.Pro17Arg) n.699C>G | ClinVar |
22 | g.50627323G>T | CA412181378 | ARSA | c.308C>A (p.Pro103His) c.50C>A (p.Pro17His) n.699C>A | gnomAD v4 |
22 | g.50627324G>A | CA412181390 | ARSA | c.307C>T (p.Pro103Ser) c.49C>T (p.Pro17Ser) n.698C>T | gnomAD v4 |