Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.41819561A>C | CA399516726 | FKBP10 | c.728-708A>C (n.728-708A>C) c.949A>C (p.Ile317Leu) c.177A>C n.562A>C c.*359A>C (n.*359A>C) c.676A>C (p.Ile226Leu) | |
17 | g.41819561A>G | CA399516727 | FKBP10 | c.728-708A>G (n.728-708A>G) c.949A>G (p.Ile317Val) c.177A>G n.562A>G c.*359A>G (n.*359A>G) c.676A>G (p.Ile226Val) | gnomAD v4 |
17 | g.41819561A>T | CA399516728 | FKBP10 | c.728-708A>T (n.728-708A>T) c.949A>T (p.Ile317Phe) c.177A>T n.562A>T c.*359A>T (n.*359A>T) c.676A>T (p.Ile226Phe) | |
17 | g.41819562T>A | CA399516729 | FKBP10 | c.728-707T>A (n.728-707T>A) c.950T>A (p.Ile317Asn) c.178T>A n.563T>A c.*360T>A (n.*360T>A) c.677T>A (p.Ile226Asn) | |
17 | g.41819562T>C | CA399516730 | FKBP10 | c.728-707T>C (n.728-707T>C) c.950T>C (p.Ile317Thr) c.178T>C n.563T>C c.*360T>C (n.*360T>C) c.677T>C (p.Ile226Thr) | |
17 | g.41819562T>G | CA399516731 | FKBP10 | c.728-707T>G (n.728-707T>G) c.950T>G (p.Ile317Ser) c.178T>G n.563T>G c.*360T>G (n.*360T>G) c.677T>G (p.Ile226Ser) | |
17 | g.41819562_41819563dup | CA2695223103 | FKBP10 | c.728-707_728-706dup (n.728-707_728-706dup) c.950_951dup (p.Gly318SerfsTer?) c.178_179dup n.563_564dup c.*360_*361dup (n.*360_*361dup) c.677_678dup (p.Gly227SerfsTer?) | |
17 | g.41819563C>A | CA500024320 | FKBP10 | c.728-706C>A (n.728-706C>A) c.951C>A (p.Ile317=) c.179C>A n.564C>A c.*361C>A (n.*361C>A) c.678C>A (p.Ile226=) | gnomAD v4 |
17 | g.41819563C= | CA2260200462 | FKBP10 | c.728-706C= (n.728-706C=) c.951C= (p.Ile317=) c.179C= n.564C= c.*361C= (n.*361C=) c.678C= (p.Ile226=) | |
17 | g.41819563C>G | CA399516732 | FKBP10 | c.728-706C>G (n.728-706C>G) c.951C>G (p.Ile317Met) c.179C>G n.564C>G c.*361C>G (n.*361C>G) c.678C>G (p.Ile226Met) | |
17 | g.41819563C>T | CA8566438 | FKBP10 | c.728-706C>T (n.728-706C>T) c.951C>T (p.Ile317=) c.179C>T n.564C>T c.*361C>T (n.*361C>T) c.678C>T (p.Ile226=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.41819564G>A | CA399516733 | FKBP10 | c.728-705G>A (n.728-705G>A) c.952G>A (p.Gly318Arg) c.180G>A n.565G>A c.*362G>A (n.*362G>A) c.679G>A (p.Gly227Arg) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.41819564G>C | CA399516734 | FKBP10 | c.728-705G>C (n.728-705G>C) c.952G>C (p.Gly318Arg) c.180G>C n.565G>C c.*362G>C (n.*362G>C) c.679G>C (p.Gly227Arg) | gnomAD v4 |
17 | g.41819564G= | CA2260200463 | FKBP10 | c.728-705G= (n.728-705G=) c.952G= (p.Gly318=) c.180G= n.565G= c.*362G= (n.*362G=) c.679G= (p.Gly227=) | |
17 | g.41819564G>T | CA399516735 | FKBP10 | c.728-705G>T (n.728-705G>T) c.952G>T (p.Gly318Trp) c.180G>T n.565G>T c.*362G>T (n.*362G>T) c.679G>T (p.Gly227Trp) | |
17 | g.41819565G>A | CA399516736 | FKBP10 | c.728-704G>A (n.728-704G>A) c.953G>A (p.Gly318Glu) c.181G>A n.566G>A c.*363G>A (n.*363G>A) c.680G>A (p.Gly227Glu) | dbSNP gnomAD v2 |
17 | g.41819565G>C | CA399516737 | FKBP10 | c.728-704G>C (n.728-704G>C) c.953G>C (p.Gly318Ala) c.181G>C n.566G>C c.*363G>C (n.*363G>C) c.680G>C (p.Gly227Ala) | |
17 | g.41819565G= | CA2260200606 | FKBP10 | c.728-704G= (n.728-704G=) c.953G= (p.Gly318=) c.181G= n.566G= c.*363G= (n.*363G=) c.680G= (p.Gly227=) | |
17 | g.41819565G>T | CA290699228 | FKBP10 | c.728-704G>T (n.728-704G>T) c.953G>T (p.Gly318Val) c.181G>T n.566G>T c.*363G>T (n.*363G>T) c.680G>T (p.Gly227Val) | dbSNP |
17 | g.41819566G>A | CA500024321 | FKBP10 | c.728-703G>A (n.728-703G>A) c.954G>A (p.Gly318=) c.182G>A n.567G>A c.*364G>A (n.*364G>A) c.681G>A (p.Gly227=) | |
17 | g.41819566G>C | CA500024322 | FKBP10 | c.728-703G>C (n.728-703G>C) c.954G>C (p.Gly318=) c.182G>C n.567G>C c.*364G>C (n.*364G>C) c.681G>C (p.Gly227=) | |
17 | g.41819566G= | CA2260200607 | FKBP10 | c.728-703G= (n.728-703G=) c.954G= (p.Gly318=) c.182G= n.567G= c.*364G= (n.*364G=) c.681G= (p.Gly227=) | |
17 | g.41819566G>T | CA500024323 | FKBP10 | c.728-703G>T (n.728-703G>T) c.954G>T (p.Gly318=) c.182G>T n.567G>T c.*364G>T (n.*364G>T) c.681G>T (p.Gly227=) | dbSNP |
17 | g.41819567C>A | CA399516738 | FKBP10 | c.728-702C>A (n.728-702C>A) c.955C>A (p.Gln319Lys) c.183C>A n.568C>A c.*365C>A (n.*365C>A) c.682C>A (p.Gln228Lys) | |
17 | g.41819567C>G | CA399516739 | FKBP10 | c.728-702C>G (n.728-702C>G) c.955C>G (p.Gln319Glu) c.183C>G n.568C>G c.*365C>G (n.*365C>G) c.682C>G (p.Gln228Glu) | |
17 | g.41819567C>T | CA399516740 | FKBP10 | c.728-702C>T (n.728-702C>T) c.955C>T (p.Gln319Ter) c.183C>T n.568C>T c.*365C>T (n.*365C>T) c.682C>T (p.Gln228Ter) | gnomAD v4 |
17 | g.41819568A= | CA2260200608 | FKBP10 | c.728-701A= (n.728-701A=) c.956A= (p.Gln319=) c.184A= n.569A= c.*366A= (n.*366A=) c.683A= (p.Gln228=) | |
17 | g.41819568A>C | CA399516741 | FKBP10 | c.728-701A>C (n.728-701A>C) c.956A>C (p.Gln319Pro) c.184A>C n.569A>C c.*366A>C (n.*366A>C) c.683A>C (p.Gln228Pro) | |
17 | g.41819568A>G | CA399516742 | FKBP10 | c.728-701A>G (n.728-701A>G) c.956A>G (p.Gln319Arg) c.184A>G n.569A>G c.*366A>G (n.*366A>G) c.683A>G (p.Gln228Arg) | |
17 | g.41819568A>T | CA8566439 | FKBP10 | c.728-701A>T (n.728-701A>T) c.956A>T (p.Gln319Leu) c.184A>T n.569A>T c.*366A>T (n.*366A>T) c.683A>T (p.Gln228Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.41819569G>A | CA500024324 | FKBP10 | c.728-700G>A (n.728-700G>A) c.957G>A (p.Gln319=) c.185G>A n.570G>A c.*367G>A (n.*367G>A) c.684G>A (p.Gln228=) | |
17 | g.41819569G>C | CA399516743 | FKBP10 | c.728-700G>C (n.728-700G>C) c.957G>C (p.Gln319His) c.185G>C n.570G>C c.*367G>C (n.*367G>C) c.684G>C (p.Gln228His) | |
17 | g.41819569G>T | CA399516744 | FKBP10 | c.728-700G>T (n.728-700G>T) c.957G>T (p.Gln319His) c.185G>T n.570G>T c.*367G>T (n.*367G>T) c.684G>T (p.Gln228His) | |
17 | g.41819570G>A | CA399516745 | FKBP10 | c.728-699G>A (n.728-699G>A) c.958G>A (p.Gly320Ser) c.186G>A n.571G>A c.*368G>A (n.*368G>A) c.685G>A (p.Gly229Ser) | |
17 | g.41819570G>C | CA399516746 | FKBP10 | c.728-699G>C (n.728-699G>C) c.958G>C (p.Gly320Arg) c.186G>C n.571G>C c.*368G>C (n.*368G>C) c.685G>C (p.Gly229Arg) | |
17 | g.41819570G= | CA2260200609 | FKBP10 | c.728-699G= (n.728-699G=) c.958G= (p.Gly320=) c.186G= n.571G= c.*368G= (n.*368G=) c.685G= (p.Gly229=) | |
17 | g.41819570G>T | CA399516747 | FKBP10 | c.728-699G>T (n.728-699G>T) c.958G>T (p.Gly320Cys) c.186G>T n.571G>T c.*368G>T (n.*368G>T) c.685G>T (p.Gly229Cys) | ClinVar dbSNP gnomAD v4 |
17 | g.41819571G>A | CA399516748 | FKBP10 | c.728-698G>A (n.728-698G>A) c.959G>A (p.Gly320Asp) c.187G>A n.572G>A c.*369G>A (n.*369G>A) c.686G>A (p.Gly229Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.41819571G>C | CA399516749 | FKBP10 | c.728-698G>C (n.728-698G>C) c.959G>C (p.Gly320Ala) c.187G>C n.572G>C c.*369G>C (n.*369G>C) c.686G>C (p.Gly229Ala) | |
17 | g.41819571G= | CA2260200610 | FKBP10 | c.728-698G= (n.728-698G=) c.959G= (p.Gly320=) c.187G= n.572G= c.*369G= (n.*369G=) c.686G= (p.Gly229=) | |
17 | g.41819571G>T | CA8566440 | FKBP10 | c.728-698G>T (n.728-698G>T) c.959G>T (p.Gly320Val) c.187G>T n.572G>T c.*369G>T (n.*369G>T) c.686G>T (p.Gly229Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.41819572T>A | CA500024327 | FKBP10 | c.728-697T>A (n.728-697T>A) c.960T>A (p.Gly320=) c.188T>A n.573T>A c.*370T>A (n.*370T>A) c.687T>A (p.Gly229=) | |
17 | g.41819572T>C | CA500024325 | FKBP10 | c.728-697T>C (n.728-697T>C) c.960T>C (p.Gly320=) c.188T>C n.573T>C c.*370T>C (n.*370T>C) c.687T>C (p.Gly229=) | |
17 | g.41819572T>G | CA500024326 | FKBP10 | c.728-697T>G (n.728-697T>G) c.960T>G (p.Gly320=) c.188T>G n.573T>G c.*370T>G (n.*370T>G) c.687T>G (p.Gly229=) | |
17 | g.41819573del | CA2637867562 | FKBP10 | c.728-696del (n.728-696del) c.961del (p.Tyr321ThrfsTer?) c.189del n.574del c.*371del (n.*371del) c.688del (p.Tyr230ThrfsTer?) | gnomAD v4 |
17 | g.41819573T>A | CA399516750 | FKBP10 | c.728-696T>A (n.728-696T>A) c.961T>A (p.Tyr321Asn) c.189T>A n.574T>A c.*371T>A (n.*371T>A) c.688T>A (p.Tyr230Asn) | |
17 | g.41819573T>C | CA399516751 | FKBP10 | c.728-696T>C (n.728-696T>C) c.961T>C (p.Tyr321His) c.189T>C n.574T>C c.*371T>C (n.*371T>C) c.688T>C (p.Tyr230His) | |
17 | g.41819573T>G | CA399516752 | FKBP10 | c.728-696T>G (n.728-696T>G) c.961T>G (p.Tyr321Asp) c.189T>G n.574T>G c.*371T>G (n.*371T>G) c.688T>G (p.Tyr230Asp) | |
17 | g.41819574A= | CA2260200611 | FKBP10 | c.728-695A= (n.728-695A=) c.962A= (p.Tyr321=) c.190A= n.575A= c.*372A= (n.*372A=) c.689A= (p.Tyr230=) | |
17 | g.41819574A>C | CA399516753 | FKBP10 | c.728-695A>C (n.728-695A>C) c.962A>C (p.Tyr321Ser) c.190A>C n.575A>C c.*372A>C (n.*372A>C) c.689A>C (p.Tyr230Ser) |