Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.88738277G>A | CA497368411 | HSALR1,PIEZO1 | c.798C>T (p.Tyr266=) n.726G>A | dbSNP gnomAD v2 gnomAD v4 |
16 | g.88738277G>C | CA397123051 | HSALR1,PIEZO1 | c.798C>G (p.Tyr266Ter) n.726G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88738277G= | CA2241255387 | HSALR1,PIEZO1 | c.798C= (p.Tyr266=) n.726G= | |
16 | g.88738277G>T | CA397123052 | HSALR1,PIEZO1 | c.798C>A (p.Tyr266Ter) n.726G>T | |
16 | g.88738278T>A | CA397123053 | HSALR1,PIEZO1 | c.797A>T (p.Tyr266Phe) n.727T>A | |
16 | g.88738278T>C | CA397123054 | HSALR1,PIEZO1 | c.797A>G (p.Tyr266Cys) n.727T>C | dbSNP gnomAD v3 gnomAD v4 |
16 | g.88738278T>G | CA397123055 | HSALR1,PIEZO1 | c.797A>C (p.Tyr266Ser) n.727T>G | |
16 | g.88738278T= | CA2241255388 | HSALR1,PIEZO1 | c.797A= (p.Tyr266=) n.727T= | |
16 | g.88738279A>C | CA397123057 | HSALR1,PIEZO1 | c.796T>G (p.Tyr266Asp) n.728A>C | |
16 | g.88738279A>G | CA397123058 | HSALR1,PIEZO1 | c.796T>C (p.Tyr266His) n.728A>G | gnomAD v4 |
16 | g.88738279A>T | CA397123056 | HSALR1,PIEZO1 | c.796T>A (p.Tyr266Asn) n.728A>T | |
16 | g.88738281_88738283del | CA2634883045 | HSALR1,PIEZO1 | c.794_796del (p.Cys265del) n.730_732del | gnomAD v4 |
16 | g.88738280G>A | CA497368420 | HSALR1,PIEZO1 | c.795C>T (p.Cys265=) n.729G>A | gnomAD v4 |
16 | g.88738280G>C | CA286436507 | HSALR1,PIEZO1 | c.795C>G (p.Cys265Trp) n.729G>C | dbSNP gnomAD v4 |
16 | g.88738280G= | CA2241255389 | HSALR1,PIEZO1 | c.795C= (p.Cys265=) n.729G= | |
16 | g.88738280G>T | CA397123059 | HSALR1,PIEZO1 | c.795C>A (p.Cys265Ter) n.729G>T | |
16 | g.88738281C>A | CA397123060 | HSALR1,PIEZO1 | c.794G>T (p.Cys265Phe) n.730C>A | |
16 | g.88738281C>G | CA397123061 | HSALR1,PIEZO1 | c.794G>C (p.Cys265Ser) n.730C>G | |
16 | g.88738281C>T | CA397123062 | HSALR1,PIEZO1 | c.794G>A (p.Cys265Tyr) n.730C>T | |
16 | g.88738282A= | CA2241255390 | HSALR1,PIEZO1 | c.793T= (p.Cys265=) n.731A= | |
16 | g.88738282A>C | CA397123065 | HSALR1,PIEZO1 | c.793T>G (p.Cys265Gly) n.731A>C | dbSNP |
16 | g.88738282A>G | CA397123063 | HSALR1,PIEZO1 | c.793T>C (p.Cys265Arg) n.731A>G | |
16 | g.88738282A>T | CA397123064 | HSALR1,PIEZO1 | c.793T>A (p.Cys265Ser) n.731A>T | |
16 | g.88738283G>A | CA497368429 | HSALR1,PIEZO1 | c.792C>T (p.Tyr264=) n.732G>A | dbSNP |
16 | g.88738283G>C | CA397123066 | HSALR1,PIEZO1 | c.792C>G (p.Tyr264Ter) n.732G>C | dbSNP gnomAD v4 |
16 | g.88738283G= | CA2241255391 | HSALR1,PIEZO1 | c.792C= (p.Tyr264=) n.732G= | |
16 | g.88738283G>T | CA397123067 | HSALR1,PIEZO1 | c.792C>A (p.Tyr264Ter) n.732G>T | |
16 | g.88738284T>A | CA397123068 | HSALR1,PIEZO1 | c.791A>T (p.Tyr264Phe) n.733T>A | |
16 | g.88738284T>C | CA397123069 | HSALR1,PIEZO1 | c.791A>G (p.Tyr264Cys) n.733T>C | gnomAD v4 |
16 | g.88738284T>G | CA397123070 | HSALR1,PIEZO1 | c.791A>C (p.Tyr264Ser) n.733T>G | dbSNP gnomAD v3 gnomAD v4 |
16 | g.88738284T= | CA2241255392 | HSALR1,PIEZO1 | c.791A= (p.Tyr264=) n.733T= | |
16 | g.88738285A= | CA2241255393 | HSALR1,PIEZO1 | c.790T= (p.Tyr264=) n.734A= | |
16 | g.88738285A>C | CA397123072 | HSALR1,PIEZO1 | c.790T>G (p.Tyr264Asp) n.734A>C | |
16 | g.88738285A>G | CA8233192 | HSALR1,PIEZO1 | c.790T>C (p.Tyr264His) n.734A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88738285A>T | CA397123071 | HSALR1,PIEZO1 | c.790T>A (p.Tyr264Asn) n.734A>T | |
16 | g.88738286G>A | CA497368435 | HSALR1,PIEZO1 | c.789C>T (p.Leu263=) n.735G>A | gnomAD v4 |
16 | g.88738286G>C | CA286436511 | HSALR1,PIEZO1 | c.789C>G (p.Leu263=) n.735G>C | dbSNP |
16 | g.88738286G= | CA2241255394 | HSALR1,PIEZO1 | c.789C= (p.Leu263=) n.735G= | |
16 | g.88738286G>T | CA497368436 | HSALR1,PIEZO1 | c.789C>A (p.Leu263=) n.735G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88738287A>C | CA397123073 | HSALR1,PIEZO1 | c.788T>G (p.Leu263Arg) n.736A>C | |
16 | g.88738287A>G | CA397123075 | HSALR1,PIEZO1 | c.788T>C (p.Leu263Pro) n.736A>G | |
16 | g.88738287A>T | CA397123074 | HSALR1,PIEZO1 | c.788T>A (p.Leu263His) n.736A>T | |
16 | g.88738288G>A | CA397123076 | HSALR1,PIEZO1 | c.787C>T (p.Leu263Phe) n.737G>A | gnomAD v4 |
16 | g.88738288G>C | CA397123078 | HSALR1,PIEZO1 | c.787C>G (p.Leu263Val) n.737G>C | |
16 | g.88738288G>T | CA397123077 | HSALR1,PIEZO1 | c.787C>A (p.Leu263Ile) n.737G>T | |
16 | g.88738289G>A | CA286436520 | HSALR1,PIEZO1 | c.786C>T (p.Cys262=) n.738G>A | dbSNP gnomAD v2 gnomAD v4 |
16 | g.88738289G>C | CA397123079 | HSALR1,PIEZO1 | c.786C>G (p.Cys262Trp) n.738G>C | |
16 | g.88738289G= | CA2241255395 | HSALR1,PIEZO1 | c.786C= (p.Cys262=) n.738G= | |
16 | g.88738289G>T | CA397123080 | HSALR1,PIEZO1 | c.786C>A (p.Cys262Ter) n.738G>T | ClinVar dbSNP |
16 | g.88738290C>A | CA397123081 | HSALR1,PIEZO1 | c.785G>T (p.Cys262Phe) n.739C>A |