Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.121160089A= | CA2004739052 | TBCEL-TECTA,TECTA | c.4690-46A= (n.4690-46A=) c.1997-46A= n.626-46A= c.5647-46A= (n.5647-46A=) | |
11 | g.121160089A>G | CA2004739054 | TBCEL-TECTA,TECTA | c.4690-46A>G (n.4690-46A>G) c.1997-46A>G n.626-46A>G c.5647-46A>G (n.5647-46A>G) | dbSNP |
11 | g.121160090C= | CA2004739055 | TBCEL-TECTA,TECTA | c.4690-45C= (n.4690-45C=) c.1997-45C= n.626-45C= c.5647-45C= (n.5647-45C=) | |
11 | g.121160090C>T | CA2004739056 | TBCEL-TECTA,TECTA | c.4690-45C>T (n.4690-45C>T) c.1997-45C>T n.626-45C>T c.5647-45C>T (n.5647-45C>T) | dbSNP gnomAD v4 |
11 | g.121160092C>A | CA6327535 | TBCEL-TECTA,TECTA | c.4690-43C>A (n.4690-43C>A) c.1997-43C>A n.626-43C>A c.5647-43C>A (n.5647-43C>A) | dbSNP ExAC gnomAD v2 |
11 | g.121160092C= | CA2004739059 | TBCEL-TECTA,TECTA | c.4690-43C= (n.4690-43C=) c.1997-43C= n.626-43C= c.5647-43C= (n.5647-43C=) | |
11 | g.121160092C>G | CA602580297 | TBCEL-TECTA,TECTA | c.4690-43C>G (n.4690-43C>G) c.1997-43C>G n.626-43C>G c.5647-43C>G (n.5647-43C>G) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.121160092C>T | CA2616489234 | TBCEL-TECTA,TECTA | c.4690-43C>T (n.4690-43C>T) c.1997-43C>T n.626-43C>T c.5647-43C>T (n.5647-43C>T) | gnomAD v4 |
11 | g.121160094T>C | CA2575008527 | TBCEL-TECTA,TECTA | c.4690-41T>C (n.4690-41T>C) c.1997-41T>C n.626-41T>C c.5647-41T>C (n.5647-41T>C) | |
11 | g.121160095A>T | CA2793889333 | TBCEL-TECTA,TECTA | c.4690-40A>T (n.4690-40A>T) c.1997-40A>T n.626-40A>T c.5647-40A>T (n.5647-40A>T) | |
11 | g.121160095_121160096del | CA2616489236 | TBCEL-TECTA,TECTA | c.4690-40_4690-39del (n.4690-40_4690-39del) c.1997-40_1997-39del n.626-40_626-39del c.5647-40_5647-39del (n.5647-40_5647-39del) | gnomAD v4 |
11 | g.121160097T>C | CA2616489237 | TBCEL-TECTA,TECTA | c.4690-38T>C (n.4690-38T>C) c.1997-38T>C n.626-38T>C c.5647-38T>C (n.5647-38T>C) | dbSNP gnomAD v4 |
11 | g.121160097T>G | CA6327536 | TBCEL-TECTA,TECTA | c.4690-38T>G (n.4690-38T>G) c.1997-38T>G n.626-38T>G c.5647-38T>G (n.5647-38T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121160097T= | CA2004739060 | TBCEL-TECTA,TECTA | c.4690-38T= (n.4690-38T=) c.1997-38T= n.626-38T= c.5647-38T= (n.5647-38T=) | |
11 | g.121160097_121160098insTG | CA229845901 | TBCEL-TECTA,TECTA | c.4690-38_4690-37insTG (n.4690-38_4690-37insTG) c.1997-38_1997-37insTG n.626-38_626-37insTG c.5647-38_5647-37insTG (n.5647-38_5647-37insTG) | dbSNP |
11 | g.121160097_121160098insGTTG | CA2616489239 | TBCEL-TECTA,TECTA | c.4690-38_4690-37insGTTG (n.4690-38_4690-37insGTTG) c.1997-38_1997-37insGTTG n.626-38_626-37insGTTG c.5647-38_5647-37insGTTG (n.5647-38_5647-37insGTTG) | gnomAD v4 |
11 | g.121160098C>G | CA2575008528 | TBCEL-TECTA,TECTA | c.4690-37C>G (n.4690-37C>G) c.1997-37C>G n.626-37C>G c.5647-37C>G (n.5647-37C>G) | |
11 | g.121160099T>C | CA2616489240 | TBCEL-TECTA,TECTA | c.4690-36T>C (n.4690-36T>C) c.1997-36T>C n.626-36T>C c.5647-36T>C (n.5647-36T>C) | gnomAD v4 |
11 | g.121160100A>G | CA2616489242 | TBCEL-TECTA,TECTA | c.4690-35A>G (n.4690-35A>G) c.1997-35A>G n.626-35A>G c.5647-35A>G (n.5647-35A>G) | gnomAD v4 |
11 | g.121160101_121160102delinsAG | CA2004739063 | TBCEL-TECTA,TECTA | c.4690-34_4690-33delinsAG (n.4690-34_4690-33delinsAG) c.1997-34_1997-33delinsAG n.626-34_626-33delinsAG c.5647-34_5647-33delinsAG (n.5647-34_5647-33delinsAG) | |
11 | g.121160102del | CA6327537 | TBCEL-TECTA,TECTA | c.4690-33del (n.4690-33del) c.1997-33del n.626-33del c.5647-33del (n.5647-33del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121160102_121160105del | CA2575008529 | TBCEL-TECTA,TECTA | c.4690-33_4690-30del (n.4690-33_4690-30del) c.1997-33_1997-30del n.626-33_626-30del c.5647-33_5647-30del (n.5647-33_5647-30del) | |
11 | g.121160103C>A | CA2616489244 | TBCEL-TECTA,TECTA | c.4690-32C>A (n.4690-32C>A) c.1997-32C>A n.626-32C>A c.5647-32C>A (n.5647-32C>A) | gnomAD v4 |
11 | g.121160103C= | CA2004739065 | TBCEL-TECTA,TECTA | c.4690-32C= (n.4690-32C=) c.1997-32C= n.626-32C= c.5647-32C= (n.5647-32C=) | |
11 | g.121160103C>T | CA6327538 | TBCEL-TECTA,TECTA | c.4690-32C>T (n.4690-32C>T) c.1997-32C>T n.626-32C>T c.5647-32C>T (n.5647-32C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121160104G>A | CA6327540 | TBCEL-TECTA,TECTA | c.4690-31G>A (n.4690-31G>A) c.1997-31G>A n.626-31G>A c.5647-31G>A (n.5647-31G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121160104G>C | CA6327539 | TBCEL-TECTA,TECTA | c.4690-31G>C (n.4690-31G>C) c.1997-31G>C n.626-31G>C c.5647-31G>C (n.5647-31G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121160104G= | CA2004739070 | TBCEL-TECTA,TECTA | c.4690-31G= (n.4690-31G=) c.1997-31G= n.626-31G= c.5647-31G= (n.5647-31G=) | |
11 | g.121160104G>T | CA2616489247 | TBCEL-TECTA,TECTA | c.4690-31G>T (n.4690-31G>T) c.1997-31G>T n.626-31G>T c.5647-31G>T (n.5647-31G>T) | gnomAD v4 |
11 | g.121160105T= | CA2004739073 | TBCEL-TECTA,TECTA | c.4690-30T= (n.4690-30T=) c.1997-30T= n.626-30T= c.5647-30T= (n.5647-30T=) | |
11 | g.121160106_121160107insCTCTAAA | CA6327541 | TBCEL-TECTA,TECTA | c.4690-29_4690-28insCTCTAAA (n.4690-29_4690-28insCTCTAAA) c.1997-29_1997-28insCTCTAAA n.626-29_626-28insCTCTAAA c.5647-29_5647-28insCTCTAAA (n.5647-29_5647-28insCTCTAAA) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121160107A= | CA2004739076 | TBCEL-TECTA,TECTA | c.4690-28A= (n.4690-28A=) c.1997-28A= n.626-28A= c.5647-28A= (n.5647-28A=) | |
11 | g.121160107A>G | CA6327542 | TBCEL-TECTA,TECTA | c.4690-28A>G (n.4690-28A>G) c.1997-28A>G n.626-28A>G c.5647-28A>G (n.5647-28A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.121160111T>C | CA2528624081 | TBCEL-TECTA,TECTA | c.4690-24T>C (n.4690-24T>C) c.1997-24T>C n.626-24T>C c.5647-24T>C (n.5647-24T>C) | gnomAD v4 |
11 | g.121160112T>A | CA6327543 | TBCEL-TECTA,TECTA | c.4690-23T>A (n.4690-23T>A) c.1997-23T>A n.626-23T>A c.5647-23T>A (n.5647-23T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121160112T= | CA2004739081 | TBCEL-TECTA,TECTA | c.4690-23T= (n.4690-23T=) c.1997-23T= n.626-23T= c.5647-23T= (n.5647-23T=) | |
11 | g.121160115C>A | CA6327544 | TBCEL-TECTA,TECTA | c.4690-20C>A (n.4690-20C>A) c.1997-20C>A n.626-20C>A c.5647-20C>A (n.5647-20C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.121160115C= | CA2004739083 | TBCEL-TECTA,TECTA | c.4690-20C= (n.4690-20C=) c.1997-20C= n.626-20C= c.5647-20C= (n.5647-20C=) | |
11 | g.121160115C>G | CA2616489256 | TBCEL-TECTA,TECTA | c.4690-20C>G (n.4690-20C>G) c.1997-20C>G n.626-20C>G c.5647-20C>G (n.5647-20C>G) | gnomAD v4 |
11 | g.121160121dup | CA2832557443 | TBCEL-TECTA,TECTA | c.4690-14dup (n.4690-14dup) c.1997-14dup n.626-14dup c.5647-14dup (n.5647-14dup) | |
11 | g.121160117T>A | CA2004739086 | TBCEL-TECTA,TECTA | c.4690-18T>A (n.4690-18T>A) c.1997-18T>A n.626-18T>A c.5647-18T>A (n.5647-18T>A) | dbSNP gnomAD v4 |
11 | g.121160117T>C | CA6327545 | TBCEL-TECTA,TECTA | c.4690-18T>C (n.4690-18T>C) c.1997-18T>C n.626-18T>C c.5647-18T>C (n.5647-18T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.121160117T= | CA2004739085 | TBCEL-TECTA,TECTA | c.4690-18T= (n.4690-18T=) c.1997-18T= n.626-18T= c.5647-18T= (n.5647-18T=) | |
11 | g.121160119T>C | CA2004739089 | TBCEL-TECTA,TECTA | c.4690-16T>C (n.4690-16T>C) c.1997-16T>C n.626-16T>C c.5647-16T>C (n.5647-16T>C) | dbSNP |
11 | g.121160119T= | CA2004739088 | TBCEL-TECTA,TECTA | c.4690-16T= (n.4690-16T=) c.1997-16T= n.626-16T= c.5647-16T= (n.5647-16T=) | |
11 | g.121160120T>C | CA184939 | TBCEL-TECTA,TECTA | c.4690-15T>C (n.4690-15T>C) c.1997-15T>C n.626-15T>C c.5647-15T>C (n.5647-15T>C) | ClinVar dbSNP |
11 | g.121160120T= | CA2004739092 | TBCEL-TECTA,TECTA | c.4690-15T= (n.4690-15T=) c.1997-15T= n.626-15T= c.5647-15T= (n.5647-15T=) | |
11 | g.121160121T>A | CA2616489262 | TBCEL-TECTA,TECTA | c.4690-14T>A (n.4690-14T>A) c.1997-14T>A n.626-14T>A c.5647-14T>A (n.5647-14T>A) | gnomAD v4 |
11 | g.121160122C>A | CA6327546 | TBCEL-TECTA,TECTA | c.4690-13C>A (n.4690-13C>A) c.1997-13C>A n.626-13C>A c.5647-13C>A (n.5647-13C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.121160122C= | CA2004739096 | TBCEL-TECTA,TECTA | c.4690-13C= (n.4690-13C=) c.1997-13C= n.626-13C= c.5647-13C= (n.5647-13C=) | |
11 | g.121160122C>T | CA2616489264 | TBCEL-TECTA,TECTA | c.4690-13C>T (n.4690-13C>T) c.1997-13C>T n.626-13C>T c.5647-13C>T (n.5647-13C>T) | gnomAD v4 |
11 | g.121160123C= | CA2004739100 | TBCEL-TECTA,TECTA | c.4690-12C= (n.4690-12C=) c.1997-12C= n.626-12C= c.5647-12C= (n.5647-12C=) | |
11 | g.121160123C>G | CA2616489266 | TBCEL-TECTA,TECTA | c.4690-12C>G (n.4690-12C>G) c.1997-12C>G n.626-12C>G c.5647-12C>G (n.5647-12C>G) | gnomAD v4 |
11 | g.121160123C>T | CA229845996 | TBCEL-TECTA,TECTA | c.4690-12C>T (n.4690-12C>T) c.1997-12C>T n.626-12C>T c.5647-12C>T (n.5647-12C>T) | ClinVar dbSNP gnomAD v4 |
11 | g.121160125C>A | CA2004739102 | TBCEL-TECTA,TECTA | c.4690-10C>A (n.4690-10C>A) c.1997-10C>A n.626-10C>A c.5647-10C>A (n.5647-10C>A) | dbSNP |
11 | g.121160125C= | CA2004739101 | TBCEL-TECTA,TECTA | c.4690-10C= (n.4690-10C=) c.1997-10C= n.626-10C= c.5647-10C= (n.5647-10C=) | |
11 | g.121160125C>T | CA2616489275 | TBCEL-TECTA,TECTA | c.4690-10C>T (n.4690-10C>T) c.1997-10C>T n.626-10C>T c.5647-10C>T (n.5647-10C>T) | gnomAD v4 |
11 | g.121160129C= | CA2004739104 | TBCEL-TECTA,TECTA | c.4690-6C= (n.4690-6C=) c.1997-6C= n.626-6C= c.5647-6C= (n.5647-6C=) | |
11 | g.121160129C>T | CA6327547 | TBCEL-TECTA,TECTA | c.4690-6C>T (n.4690-6C>T) c.1997-6C>T n.626-6C>T c.5647-6C>T (n.5647-6C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.121160131A= | CA2004739106 | TBCEL-TECTA,TECTA | c.4690-4A= (n.4690-4A=) c.1997-4A= n.626-4A= c.5647-4A= (n.5647-4A=) | |
11 | g.121160131A>C | CA672616892 | TBCEL-TECTA,TECTA | c.4690-4A>C (n.4690-4A>C) c.1997-4A>C n.626-4A>C c.5647-4A>C (n.5647-4A>C) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.121160131A>G | CA6327548 | TBCEL-TECTA,TECTA | c.4690-4A>G (n.4690-4A>G) c.1997-4A>G n.626-4A>G c.5647-4A>G (n.5647-4A>G) | ClinVar dbSNP ExAC gnomAD v4 |
11 | g.121160132T>C | CA602580298 | TBCEL-TECTA,TECTA | c.4690-3T>C (n.4690-3T>C) c.1997-3T>C n.626-3T>C c.5647-3T>C (n.5647-3T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121160132T= | CA2004739110 | TBCEL-TECTA,TECTA | c.4690-3T= (n.4690-3T=) c.1997-3T= n.626-3T= c.5647-3T= (n.5647-3T=) | |
11 | g.121160133A>C | CA383028094 | TBCEL-TECTA,TECTA | c.4690-2A>C (n.4690-2A>C) c.1997-2A>C n.626-2A>C c.5647-2A>C (n.5647-2A>C) | |
11 | g.121160133A>G | CA383028095 | TBCEL-TECTA,TECTA | c.4690-2A>G (n.4690-2A>G) c.1997-2A>G n.626-2A>G c.5647-2A>G (n.5647-2A>G) | |
11 | g.121160133A>T | CA383028097 | TBCEL-TECTA,TECTA | c.4690-2A>T (n.4690-2A>T) c.1997-2A>T n.626-2A>T c.5647-2A>T (n.5647-2A>T) | |
11 | g.121160134G>A | CA383028100 | TBCEL-TECTA,TECTA | c.4690-1G>A (n.4690-1G>A) c.1997-1G>A n.626-1G>A c.5647-1G>A (n.5647-1G>A) | ClinVar gnomAD v4 |
11 | g.121160134G>C | CA383028101 | TBCEL-TECTA,TECTA | c.4690-1G>C (n.4690-1G>C) c.1997-1G>C n.626-1G>C c.5647-1G>C (n.5647-1G>C) | |
11 | g.121160134G>T | CA383028102 | TBCEL-TECTA,TECTA | c.4690-1G>T (n.4690-1G>T) c.1997-1G>T n.626-1G>T c.5647-1G>T (n.5647-1G>T) | |
11 | g.121160135G>A | CA383028104 | TBCEL-TECTA,TECTA | c.4690G>A (p.Val1564Met) c.1997G>A n.626G>A c.5647G>A (p.Val1883Met) | |
11 | g.121160135G>C | CA6327549 | TBCEL-TECTA,TECTA | c.4690G>C (p.Val1564Leu) c.1997G>C n.626G>C c.5647G>C (p.Val1883Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.121160135G= | CA2004739112 | TBCEL-TECTA,TECTA | c.4690G= (p.Val1564=) c.1997G= n.626G= c.5647G= (p.Val1883=) | |
11 | g.121160135G>T | CA383028103 | TBCEL-TECTA,TECTA | c.4690G>T (p.Val1564Leu) c.1997G>T n.626G>T c.5647G>T (p.Val1883Leu) | |
11 | g.121160136T>A | CA383028105 | TBCEL-TECTA,TECTA | c.4691T>A (p.Val1564Glu) c.1998T>A n.627T>A c.5648T>A (p.Val1883Glu) | |
11 | g.121160136T>C | CA383028106 | TBCEL-TECTA,TECTA | c.4691T>C (p.Val1564Ala) c.1998T>C n.627T>C c.5648T>C (p.Val1883Ala) | |
11 | g.121160136T>G | CA383028109 | TBCEL-TECTA,TECTA | c.4691T>G (p.Val1564Gly) c.1998T>G n.627T>G c.5648T>G (p.Val1883Gly) | |
11 | g.121160137G>A | CA477383061 | TBCEL-TECTA,TECTA | c.4692G>A (p.Val1564=) c.1999G>A n.628G>A c.5649G>A (p.Val1883=) | |
11 | g.121160137G>C | CA477383062 | TBCEL-TECTA,TECTA | c.4692G>C (p.Val1564=) c.1999G>C n.628G>C c.5649G>C (p.Val1883=) | gnomAD v4 |
11 | g.121160137G>T | CA477383063 | TBCEL-TECTA,TECTA | c.4692G>T (p.Val1564=) c.1999G>T n.628G>T c.5649G>T (p.Val1883=) | |
11 | g.121160138A>C | CA383028113 | TBCEL-TECTA,TECTA | c.4693A>C (p.Asn1565His) c.2000A>C n.629A>C c.5650A>C (p.Asn1884His) | |
11 | g.121160138A>G | CA383028115 | TBCEL-TECTA,TECTA | c.4693A>G (p.Asn1565Asp) c.2000A>G n.629A>G c.5650A>G (p.Asn1884Asp) | |
11 | g.121160138A>T | CA383028117 | TBCEL-TECTA,TECTA | c.4693A>T (p.Asn1565Tyr) c.2000A>T n.629A>T c.5650A>T (p.Asn1884Tyr) | |
11 | g.121160139A>C | CA383028120 | TBCEL-TECTA,TECTA | c.4694A>C (p.Asn1565Thr) c.2001A>C n.630A>C c.5651A>C (p.Asn1884Thr) | |
11 | g.121160139A>G | CA383028122 | TBCEL-TECTA,TECTA | c.4694A>G (p.Asn1565Ser) c.2001A>G n.630A>G c.5651A>G (p.Asn1884Ser) | gnomAD v4 |
11 | g.121160139A>T | CA383028124 | TBCEL-TECTA,TECTA | c.4694A>T (p.Asn1565Ile) c.2001A>T n.630A>T c.5651A>T (p.Asn1884Ile) | |
11 | g.121160140T>A | CA383028126 | TBCEL-TECTA,TECTA | c.4695T>A (p.Asn1565Lys) c.2002T>A n.631T>A c.5652T>A (p.Asn1884Lys) | |
11 | g.121160140T>C | CA477383065 | TBCEL-TECTA,TECTA | c.4695T>C (p.Asn1565=) c.2002T>C n.631T>C c.5652T>C (p.Asn1884=) | |
11 | g.121160140T>G | CA383028127 | TBCEL-TECTA,TECTA | c.4695T>G (p.Asn1565Lys) c.2002T>G n.631T>G c.5652T>G (p.Asn1884Lys) | |
11 | g.121160141G>A | CA6327550 | TBCEL-TECTA,TECTA | c.4696G>A (p.Gly1566Ser) c.2003G>A n.632G>A c.5653G>A (p.Gly1885Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121160141G>C | CA383028130 | TBCEL-TECTA,TECTA | c.4696G>C (p.Gly1566Arg) c.2003G>C n.632G>C c.5653G>C (p.Gly1885Arg) | |
11 | g.121160141G= | CA2004739115 | TBCEL-TECTA,TECTA | c.4696G= (p.Gly1566=) c.2003G= n.632G= c.5653G= (p.Gly1885=) | |
11 | g.121160141G>T | CA383028128 | TBCEL-TECTA,TECTA | c.4696G>T (p.Gly1566Cys) c.2003G>T n.632G>T c.5653G>T (p.Gly1885Cys) | |
11 | g.121160142G>A | CA383028132 | TBCEL-TECTA,TECTA | c.4697G>A (p.Gly1566Asp) c.2004G>A n.633G>A c.5654G>A (p.Gly1885Asp) | gnomAD v4 |
11 | g.121160142G>C | CA383028133 | TBCEL-TECTA,TECTA | c.4697G>C (p.Gly1566Ala) c.2004G>C n.633G>C c.5654G>C (p.Gly1885Ala) | dbSNP gnomAD v2 |
11 | g.121160142G= | CA2004739117 | TBCEL-TECTA,TECTA | c.4697G= (p.Gly1566=) c.2004G= n.633G= c.5654G= (p.Gly1885=) | |
11 | g.121160142G>T | CA383028135 | TBCEL-TECTA,TECTA | c.4697G>T (p.Gly1566Val) c.2004G>T n.633G>T c.5654G>T (p.Gly1885Val) | |
11 | g.121160143C>A | CA477383066 | TBCEL-TECTA,TECTA | c.4698C>A (p.Gly1566=) c.2005C>A n.634C>A c.5655C>A (p.Gly1885=) | |
11 | g.121160143C>G | CA477383067 | TBCEL-TECTA,TECTA | c.4698C>G (p.Gly1566=) c.2005C>G n.634C>G c.5655C>G (p.Gly1885=) | |
11 | g.121160143C>T | CA477383068 | TBCEL-TECTA,TECTA | c.4698C>T (p.Gly1566=) c.2005C>T n.634C>T c.5655C>T (p.Gly1885=) | |
11 | g.121160144A>C | CA383028139 | TBCEL-TECTA,TECTA | c.4699A>C (p.Thr1567Pro) c.2006A>C n.635A>C c.5656A>C (p.Thr1886Pro) | |
11 | g.121160144A>G | CA383028140 | TBCEL-TECTA,TECTA | c.4699A>G (p.Thr1567Ala) c.2006A>G n.635A>G c.5656A>G (p.Thr1886Ala) | |
11 | g.121160144A>T | CA383028142 | TBCEL-TECTA,TECTA | c.4699A>T (p.Thr1567Ser) c.2006A>T n.635A>T c.5656A>T (p.Thr1886Ser) | |
11 | g.121160145C>A | CA383028144 | TBCEL-TECTA,TECTA | c.4700C>A (p.Thr1567Lys) c.2007C>A n.636C>A c.5657C>A (p.Thr1886Lys) | gnomAD v4 |
11 | g.121160145C= | CA2004739119 | TBCEL-TECTA,TECTA | c.4700C= (p.Thr1567=) c.2007C= n.636C= c.5657C= (p.Thr1886=) | |
11 | g.121160145C>G | CA383028146 | TBCEL-TECTA,TECTA | c.4700C>G (p.Thr1567Arg) c.2007C>G n.636C>G c.5657C>G (p.Thr1886Arg) | |
11 | g.121160145C>T | CA383028147 | TBCEL-TECTA,TECTA | c.4700C>T (p.Thr1567Ile) c.2007C>T n.636C>T c.5657C>T (p.Thr1886Ile) | dbSNP |
11 | g.121160146A>C | CA477383069 | TBCEL-TECTA,TECTA | c.4701A>C (p.Thr1567=) c.2008A>C n.637A>C c.5658A>C (p.Thr1886=) | |
11 | g.121160146A>G | CA477383070 | TBCEL-TECTA,TECTA | c.4701A>G (p.Thr1567=) c.2008A>G n.637A>G c.5658A>G (p.Thr1886=) | dbSNP gnomAD v4 |
11 | g.121160146A>T | CA477383071 | TBCEL-TECTA,TECTA | c.4701A>T (p.Thr1567=) c.2008A>T n.637A>T c.5658A>T (p.Thr1886=) | |
11 | g.121160147C>A | CA383028148 | TBCEL-TECTA,TECTA | c.4702C>A (p.Gln1568Lys) c.2009C>A n.638C>A c.5659C>A (p.Gln1887Lys) | |
11 | g.121160147C>G | CA383028149 | TBCEL-TECTA,TECTA | c.4702C>G (p.Gln1568Glu) c.2009C>G n.638C>G c.5659C>G (p.Gln1887Glu) | |
11 | g.121160147C>T | CA383028150 | TBCEL-TECTA,TECTA | c.4702C>T (p.Gln1568Ter) c.2009C>T n.638C>T c.5659C>T (p.Gln1887Ter) | |
11 | g.121160148A>C | CA383028156 | TBCEL-TECTA,TECTA | c.4703A>C (p.Gln1568Pro) c.2010A>C n.639A>C c.5660A>C (p.Gln1887Pro) | |
11 | g.121160148A>G | CA383028159 | TBCEL-TECTA,TECTA | c.4703A>G (p.Gln1568Arg) c.2010A>G n.639A>G c.5660A>G (p.Gln1887Arg) | |
11 | g.121160148A>T | CA383028151 | TBCEL-TECTA,TECTA | c.4703A>T (p.Gln1568Leu) c.2010A>T n.639A>T c.5660A>T (p.Gln1887Leu) | gnomAD v4 |
11 | g.121160149A>C | CA383028161 | TBCEL-TECTA,TECTA | c.4704A>C (p.Gln1568His) c.2011A>C n.640A>C c.5661A>C (p.Gln1887His) | |
11 | g.121160149A>G | CA477383072 | TBCEL-TECTA,TECTA | c.4704A>G (p.Gln1568=) c.2011A>G n.640A>G c.5661A>G (p.Gln1887=) | |
11 | g.121160149A>T | CA383028163 | TBCEL-TECTA,TECTA | c.4704A>T (p.Gln1568His) c.2011A>T n.640A>T c.5661A>T (p.Gln1887His) | |
11 | g.121160150G>A | CA383028164 | TBCEL-TECTA,TECTA | c.4705G>A (p.Val1569Met) c.2012G>A n.641G>A c.5662G>A (p.Val1888Met) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.121160150G>C | CA383028165 | TBCEL-TECTA,TECTA | c.4705G>C (p.Val1569Leu) c.2012G>C n.641G>C c.5662G>C (p.Val1888Leu) | |
11 | g.121160150G= | CA2004739122 | TBCEL-TECTA,TECTA | c.4705G= (p.Val1569=) c.2012G= n.641G= c.5662G= (p.Val1888=) | |
11 | g.121160150G>T | CA383028166 | TBCEL-TECTA,TECTA | c.4705G>T (p.Val1569Leu) c.2012G>T n.641G>T c.5662G>T (p.Val1888Leu) | |
11 | g.121160151T>A | CA383028173 | TBCEL-TECTA,TECTA | c.4706T>A (p.Val1569Glu) c.2013T>A n.642T>A c.5663T>A (p.Val1888Glu) | |
11 | g.121160151T>C | CA383028170 | TBCEL-TECTA,TECTA | c.4706T>C (p.Val1569Ala) c.2013T>C n.642T>C c.5663T>C (p.Val1888Ala) | |
11 | g.121160151T>G | CA383028172 | TBCEL-TECTA,TECTA | c.4706T>G (p.Val1569Gly) c.2013T>G n.642T>G c.5663T>G (p.Val1888Gly) | |
11 | g.121160152G>A | CA477383074 | TBCEL-TECTA,TECTA | c.4707G>A (p.Val1569=) c.2014G>A n.643G>A c.5664G>A (p.Val1888=) | |
11 | g.121160152G>C | CA477383075 | TBCEL-TECTA,TECTA | c.4707G>C (p.Val1569=) c.2014G>C n.643G>C c.5664G>C (p.Val1888=) | gnomAD v4 |
11 | g.121160152G>T | CA477383076 | TBCEL-TECTA,TECTA | c.4707G>T (p.Val1569=) c.2014G>T n.643G>T c.5664G>T (p.Val1888=) | |
11 | g.121160153A>C | CA383028175 | TBCEL-TECTA,TECTA | c.4708A>C (p.Asn1570His) c.2015A>C n.644A>C c.5665A>C (p.Asn1889His) | |
11 | g.121160153A>G | CA383028176 | TBCEL-TECTA,TECTA | c.4708A>G (p.Asn1570Asp) c.2015A>G n.644A>G c.5665A>G (p.Asn1889Asp) | |
11 | g.121160153A>T | CA383028177 | TBCEL-TECTA,TECTA | c.4708A>T (p.Asn1570Tyr) c.2015A>T n.644A>T c.5665A>T (p.Asn1889Tyr) | |
11 | g.121160154A>C | CA383028178 | TBCEL-TECTA,TECTA | c.4709A>C (p.Asn1570Thr) c.2016A>C n.645A>C c.5666A>C (p.Asn1889Thr) | |
11 | g.121160154A>G | CA383028184 | TBCEL-TECTA,TECTA | c.4709A>G (p.Asn1570Ser) c.2016A>G n.645A>G c.5666A>G (p.Asn1889Ser) | |
11 | g.121160154A>T | CA383028186 | TBCEL-TECTA,TECTA | c.4709A>T (p.Asn1570Ile) c.2016A>T n.645A>T c.5666A>T (p.Asn1889Ile) | |
11 | g.121160155T>A | CA383028189 | TBCEL-TECTA,TECTA | c.4710T>A (p.Asn1570Lys) c.2017T>A n.646T>A c.5667T>A (p.Asn1889Lys) | |
11 | g.121160155T>C | CA477383078 | TBCEL-TECTA,TECTA | c.4710T>C (p.Asn1570=) c.2017T>C n.646T>C c.5667T>C (p.Asn1889=) | |
11 | g.121160155T>G | CA383028188 | TBCEL-TECTA,TECTA | c.4710T>G (p.Asn1570Lys) c.2017T>G n.646T>G c.5667T>G (p.Asn1889Lys) | |
11 | g.121160156G>A | CA383028190 | TBCEL-TECTA,TECTA | c.4711G>A (p.Val1571Ile) c.2018G>A n.647G>A c.5668G>A (p.Val1890Ile) | gnomAD v4 |
11 | g.121160156G>C | CA383028193 | TBCEL-TECTA,TECTA | c.4711G>C (p.Val1571Leu) c.2018G>C n.647G>C c.5668G>C (p.Val1890Leu) | dbSNP gnomAD v4 |
11 | g.121160156G= | CA2004739125 | TBCEL-TECTA,TECTA | c.4711G= (p.Val1571=) c.2018G= n.647G= c.5668G= (p.Val1890=) | |
11 | g.121160156G>T | CA383028191 | TBCEL-TECTA,TECTA | c.4711G>T (p.Val1571Phe) c.2018G>T n.647G>T c.5668G>T (p.Val1890Phe) | |
11 | g.121160157T>A | CA383028195 | TBCEL-TECTA,TECTA | c.4712T>A (p.Val1571Asp) c.2019T>A n.648T>A c.5669T>A (p.Val1890Asp) | |
11 | g.121160157T>C | CA383028198 | TBCEL-TECTA,TECTA | c.4712T>C (p.Val1571Ala) c.2019T>C n.648T>C c.5669T>C (p.Val1890Ala) | |
11 | g.121160157T>G | CA383028200 | TBCEL-TECTA,TECTA | c.4712T>G (p.Val1571Gly) c.2019T>G n.648T>G c.5669T>G (p.Val1890Gly) | |
11 | g.121160158T>A | CA477383081 | TBCEL-TECTA,TECTA | c.4713T>A (p.Val1571=) c.2020T>A n.649T>A c.5670T>A (p.Val1890=) | |
11 | g.121160158T>C | CA477383082 | TBCEL-TECTA,TECTA | c.4713T>C (p.Val1571=) c.2020T>C n.649T>C c.5670T>C (p.Val1890=) | |
11 | g.121160158T>G | CA477383083 | TBCEL-TECTA,TECTA | c.4713T>G (p.Val1571=) c.2020T>G n.649T>G c.5670T>G (p.Val1890=) | |
11 | g.121160159C>A | CA383028207 | TBCEL-TECTA,TECTA | c.4714C>A (p.Pro1572Thr) c.2021C>A n.650C>A c.5671C>A (p.Pro1891Thr) | |
11 | g.121160159C>G | CA383028209 | TBCEL-TECTA,TECTA | c.4714C>G (p.Pro1572Ala) c.2021C>G n.650C>G c.5671C>G (p.Pro1891Ala) | |
11 | g.121160159C>T | CA383028218 | TBCEL-TECTA,TECTA | c.4714C>T (p.Pro1572Ser) c.2021C>T n.650C>T c.5671C>T (p.Pro1891Ser) | |
11 | g.121160160C>A | CA383028221 | TBCEL-TECTA,TECTA | c.4715C>A (p.Pro1572Gln) c.2022C>A n.651C>A c.5672C>A (p.Pro1891Gln) | dbSNP gnomAD v4 |
11 | g.121160160C= | CA2004739128 | TBCEL-TECTA,TECTA | c.4715C= (p.Pro1572=) c.2022C= n.651C= c.5672C= (p.Pro1891=) | |
11 | g.121160160C>G | CA383028223 | TBCEL-TECTA,TECTA | c.4715C>G (p.Pro1572Arg) c.2022C>G n.651C>G c.5672C>G (p.Pro1891Arg) | |
11 | g.121160160C>T | CA383028225 | TBCEL-TECTA,TECTA | c.4715C>T (p.Pro1572Leu) c.2022C>T n.651C>T c.5672C>T (p.Pro1891Leu) | |
11 | g.121160161A>C | CA477383084 | TBCEL-TECTA,TECTA | c.4716A>C (p.Pro1572=) c.2023A>C n.652A>C c.5673A>C (p.Pro1891=) | |
11 | g.121160161A>G | CA477383086 | TBCEL-TECTA,TECTA | c.4716A>G (p.Pro1572=) c.2023A>G n.652A>G c.5673A>G (p.Pro1891=) | |
11 | g.121160161A>T | CA477383085 | TBCEL-TECTA,TECTA | c.4716A>T (p.Pro1572=) c.2023A>T n.652A>T c.5673A>T (p.Pro1891=) | |
11 | g.121160162T>A | CA383028230 | TBCEL-TECTA,TECTA | c.4717T>A (p.Phe1573Ile) c.2024T>A n.653T>A c.5674T>A (p.Phe1892Ile) | |
11 | g.121160162T>C | CA383028231 | TBCEL-TECTA,TECTA | c.4717T>C (p.Phe1573Leu) c.2024T>C n.653T>C c.5674T>C (p.Phe1892Leu) | |
11 | g.121160162T>G | CA383028233 | TBCEL-TECTA,TECTA | c.4717T>G (p.Phe1573Val) c.2024T>G n.653T>G c.5674T>G (p.Phe1892Val) | |
11 | g.121160164del | CA2616489309 | TBCEL-TECTA,TECTA | c.4719del (p.Phe1573LeufsTer2) c.2026del n.655del c.5676del (p.Phe1892LeufsTer2) | gnomAD v4 |
11 | g.121160163T>A | CA383028237 | TBCEL-TECTA,TECTA | c.4718T>A (p.Phe1573Tyr) c.2025T>A n.654T>A c.5675T>A (p.Phe1892Tyr) | |
11 | g.121160163T>C | CA6327551 | TBCEL-TECTA,TECTA | c.4718T>C (p.Phe1573Ser) c.2025T>C n.654T>C c.5675T>C (p.Phe1892Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.121160163T>G | CA383028236 | TBCEL-TECTA,TECTA | c.4718T>G (p.Phe1573Cys) c.2025T>G n.654T>G c.5675T>G (p.Phe1892Cys) | |
11 | g.121160163T= | CA2004739133 | TBCEL-TECTA,TECTA | c.4718T= (p.Phe1573=) c.2025T= n.654T= c.5675T= (p.Phe1892=) | |
11 | g.121160164T>A | CA229846013 | TBCEL-TECTA,TECTA | c.4719T>A (p.Phe1573Leu) c.2026T>A n.655T>A c.5676T>A (p.Phe1892Leu) | dbSNP |
11 | g.121160164T>C | CA477383087 | TBCEL-TECTA,TECTA | c.4719T>C (p.Phe1573=) c.2026T>C n.655T>C c.5676T>C (p.Phe1892=) | |
11 | g.121160164T>G | CA383028239 | TBCEL-TECTA,TECTA | c.4719T>G (p.Phe1573Leu) c.2026T>G n.655T>G c.5676T>G (p.Phe1892Leu) | |
11 | g.121160164T= | CA2004739139 | TBCEL-TECTA,TECTA | c.4719T= (p.Phe1573=) c.2026T= n.655T= c.5676T= (p.Phe1892=) | |
11 | g.121160165A= | CA2004739142 | TBCEL-TECTA,TECTA | c.4720A= (p.Ile1574=) c.2027A= n.656A= c.5677A= (p.Ile1893=) | |
11 | g.121160165A>C | CA383028241 | TBCEL-TECTA,TECTA | c.4720A>C (p.Ile1574Leu) c.2027A>C n.656A>C c.5677A>C (p.Ile1893Leu) | |
11 | g.121160165A>G | CA6327552 | TBCEL-TECTA,TECTA | c.4720A>G (p.Ile1574Val) c.2027A>G n.656A>G c.5677A>G (p.Ile1893Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121160165A>T | CA383028244 | TBCEL-TECTA,TECTA | c.4720A>T (p.Ile1574Leu) c.2027A>T n.656A>T c.5677A>T (p.Ile1893Leu) | |
11 | g.121160166T>A | CA383028246 | TBCEL-TECTA,TECTA | c.4721T>A (p.Ile1574Lys) c.2028T>A n.657T>A c.5678T>A (p.Ile1893Lys) | |
11 | g.121160166T>C | CA383028247 | TBCEL-TECTA,TECTA | c.4721T>C (p.Ile1574Thr) c.2028T>C n.657T>C c.5678T>C (p.Ile1893Thr) | gnomAD v4 |
11 | g.121160166T>G | CA383028252 | TBCEL-TECTA,TECTA | c.4721T>G (p.Ile1574Arg) c.2028T>G n.657T>G c.5678T>G (p.Ile1893Arg) | |
11 | g.121160167A= | CA2004739147 | TBCEL-TECTA,TECTA | c.4722A= (p.Ile1574=) c.2029A= n.658A= c.5679A= (p.Ile1893=) | |
11 | g.121160167A>C | CA477383090 | TBCEL-TECTA,TECTA | c.4722A>C (p.Ile1574=) c.2029A>C n.658A>C c.5679A>C (p.Ile1893=) | |
11 | g.121160167A>G | CA6327553 | TBCEL-TECTA,TECTA | c.4722A>G (p.Ile1574Met) c.2029A>G n.658A>G c.5679A>G (p.Ile1893Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121160167A>T | CA477383089 | TBCEL-TECTA,TECTA | c.4722A>T (p.Ile1574=) c.2029A>T n.658A>T c.5679A>T (p.Ile1893=) | |
11 | g.121160168A>C | CA383028255 | TBCEL-TECTA,TECTA | c.4723A>C (p.Thr1575Pro) c.2030A>C n.659A>C c.5680A>C (p.Thr1894Pro) | |
11 | g.121160168A>G | CA383028257 | TBCEL-TECTA,TECTA | c.4723A>G (p.Thr1575Ala) c.2030A>G n.659A>G c.5680A>G (p.Thr1894Ala) | |
11 | g.121160168A>T | CA383028264 | TBCEL-TECTA,TECTA | c.4723A>T (p.Thr1575Ser) c.2030A>T n.659A>T c.5680A>T (p.Thr1894Ser) | |
11 | g.121160169C>A | CA383028269 | TBCEL-TECTA,TECTA | c.4724C>A (p.Thr1575Asn) c.2031C>A n.660C>A c.5681C>A (p.Thr1894Asn) | dbSNP |
11 | g.121160169C= | CA2004739150 | TBCEL-TECTA,TECTA | c.4724C= (p.Thr1575=) c.2031C= n.660C= c.5681C= (p.Thr1894=) | |
11 | g.121160169C>G | CA383028268 | TBCEL-TECTA,TECTA | c.4724C>G (p.Thr1575Ser) c.2031C>G n.660C>G c.5681C>G (p.Thr1894Ser) | COSMIC |
11 | g.121160169C>T | CA383028267 | TBCEL-TECTA,TECTA | c.4724C>T (p.Thr1575Ile) c.2031C>T n.660C>T c.5681C>T (p.Thr1894Ile) | |
11 | g.121160170T>A | CA477383161 | TBCEL-TECTA,TECTA | c.4725T>A (p.Thr1575=) c.2032T>A n.661T>A c.5682T>A (p.Thr1894=) | dbSNP |
11 | g.121160170T>C | CA477383162 | TBCEL-TECTA,TECTA | c.4725T>C (p.Thr1575=) c.2032T>C n.661T>C c.5682T>C (p.Thr1894=) | |
11 | g.121160170T>G | CA477383163 | TBCEL-TECTA,TECTA | c.4725T>G (p.Thr1575=) c.2032T>G n.661T>G c.5682T>G (p.Thr1894=) | |
11 | g.121160170T= | CA2004739153 | TBCEL-TECTA,TECTA | c.4725T= (p.Thr1575=) c.2032T= n.661T= c.5682T= (p.Thr1894=) | |
11 | g.121160171G>A | CA383028273 | TBCEL-TECTA,TECTA | c.4726G>A (p.Gly1576Ser) c.2033G>A n.662G>A c.5683G>A (p.Gly1895Ser) | |
11 | g.121160171G>C | CA383028275 | TBCEL-TECTA,TECTA | c.4726G>C (p.Gly1576Arg) c.2033G>C n.662G>C c.5683G>C (p.Gly1895Arg) | |
11 | g.121160171G>T | CA383028277 | TBCEL-TECTA,TECTA | c.4726G>T (p.Gly1576Cys) c.2033G>T n.662G>T c.5683G>T (p.Gly1895Cys) | |
11 | g.121160172G>A | CA383028279 | TBCEL-TECTA,TECTA | c.4727G>A (p.Gly1576Asp) c.2034G>A n.663G>A c.5684G>A (p.Gly1895Asp) | COSMIC |
11 | g.121160172G>C | CA383028284 | TBCEL-TECTA,TECTA | c.4727G>C (p.Gly1576Ala) c.2034G>C n.663G>C c.5684G>C (p.Gly1895Ala) | |
11 | g.121160172G= | CA2004739156 | TBCEL-TECTA,TECTA | c.4727G= (p.Gly1576=) c.2034G= n.663G= c.5684G= (p.Gly1895=) | |
11 | g.121160172G>T | CA229846021 | TBCEL-TECTA,TECTA | c.4727G>T (p.Gly1576Val) c.2034G>T n.663G>T c.5684G>T (p.Gly1895Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121160173T>A | CA477383165 | TBCEL-TECTA,TECTA | c.4728T>A (p.Gly1576=) c.2035T>A n.664T>A c.5685T>A (p.Gly1895=) | |
11 | g.121160173T>C | CA477383167 | TBCEL-TECTA,TECTA | c.4728T>C (p.Gly1576=) c.2035T>C n.664T>C c.5685T>C (p.Gly1895=) | |
11 | g.121160173T>G | CA477383168 | TBCEL-TECTA,TECTA | c.4728T>G (p.Gly1576=) c.2035T>G n.664T>G c.5685T>G (p.Gly1895=) | dbSNP gnomAD v4 |
11 | g.121160173T= | CA2004739158 | TBCEL-TECTA,TECTA | c.4728T= (p.Gly1576=) c.2035T= n.664T= c.5685T= (p.Gly1895=) | |
11 | g.121160174T>A | CA383028286 | TBCEL-TECTA,TECTA | c.4729T>A (p.Leu1577Met) c.2036T>A n.665T>A c.5686T>A (p.Leu1896Met) | |
11 | g.121160174T>C | CA477383169 | TBCEL-TECTA,TECTA | c.4729T>C (p.Leu1577=) c.2036T>C n.665T>C c.5686T>C (p.Leu1896=) | |
11 | g.121160174T>G | CA383028288 | TBCEL-TECTA,TECTA | c.4729T>G (p.Leu1577Val) c.2036T>G n.665T>G c.5686T>G (p.Leu1896Val) | |
11 | g.121160175T>A | CA383028291 | TBCEL-TECTA,TECTA | c.4730T>A (p.Leu1577Ter) c.2037T>A n.666T>A c.5687T>A (p.Leu1896Ter) | |
11 | g.121160175T>C | CA383028293 | TBCEL-TECTA,TECTA | c.4730T>C (p.Leu1577Ser) c.2037T>C n.666T>C c.5687T>C (p.Leu1896Ser) | |
11 | g.121160175T>G | CA383028295 | TBCEL-TECTA,TECTA | c.4730T>G (p.Leu1577Trp) c.2037T>G n.666T>G c.5687T>G (p.Leu1896Trp) | |
11 | g.121160176G>A | CA477383170 | TBCEL-TECTA,TECTA | c.4731G>A (p.Leu1577=) c.2038G>A n.667G>A c.5688G>A (p.Leu1896=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121160176G>C | CA383028303 | TBCEL-TECTA,TECTA | c.4731G>C (p.Leu1577Phe) c.2038G>C n.667G>C c.5688G>C (p.Leu1896Phe) | |
11 | g.121160176G= | CA2004739160 | TBCEL-TECTA,TECTA | c.4731G= (p.Leu1577=) c.2038G= n.667G= c.5688G= (p.Leu1896=) | |
11 | g.121160176G>T | CA383028307 | TBCEL-TECTA,TECTA | c.4731G>T (p.Leu1577Phe) c.2038G>T n.667G>T c.5688G>T (p.Leu1896Phe) | |
11 | g.121160177G>A | CA383028315 | TBCEL-TECTA,TECTA | c.4732G>A (p.Ala1578Thr) c.2039G>A n.668G>A c.5689G>A (p.Ala1897Thr) | gnomAD v4 |
11 | g.121160177G>C | CA383028311 | TBCEL-TECTA,TECTA | c.4732G>C (p.Ala1578Pro) c.2039G>C n.668G>C c.5689G>C (p.Ala1897Pro) | |
11 | g.121160177G>T | CA383028313 | TBCEL-TECTA,TECTA | c.4732G>T (p.Ala1578Ser) c.2039G>T n.668G>T c.5689G>T (p.Ala1897Ser) | |
11 | g.121160178C>A | CA383028317 | TBCEL-TECTA,TECTA | c.4733C>A (p.Ala1578Glu) c.2040C>A n.669C>A c.5690C>A (p.Ala1897Glu) | |
11 | g.121160178C= | CA2004739162 | TBCEL-TECTA,TECTA | c.4733C= (p.Ala1578=) c.2040C= n.669C= c.5690C= (p.Ala1897=) | |
11 | g.121160178C>G | CA383028319 | TBCEL-TECTA,TECTA | c.4733C>G (p.Ala1578Gly) c.2040C>G n.669C>G c.5690C>G (p.Ala1897Gly) | |
11 | g.121160178C>T | CA383028320 | TBCEL-TECTA,TECTA | c.4733C>T (p.Ala1578Val) c.2040C>T n.669C>T c.5690C>T (p.Ala1897Val) | dbSNP |
11 | g.121160179A>C | CA477383174 | TBCEL-TECTA,TECTA | c.4734A>C (p.Ala1578=) c.2041A>C n.670A>C c.5691A>C (p.Ala1897=) | |
11 | g.121160179A>G | CA477383175 | TBCEL-TECTA,TECTA | c.4734A>G (p.Ala1578=) c.2041A>G n.670A>G c.5691A>G (p.Ala1897=) | |
11 | g.121160179A>T | CA477383176 | TBCEL-TECTA,TECTA | c.4734A>T (p.Ala1578=) c.2041A>T n.670A>T c.5691A>T (p.Ala1897=) | |
11 | g.121160180A>C | CA383028322 | TBCEL-TECTA,TECTA | c.4735A>C (p.Thr1579Pro) c.2042A>C n.671A>C c.5692A>C (p.Thr1898Pro) | |
11 | g.121160180A>G | CA383028324 | TBCEL-TECTA,TECTA | c.4735A>G (p.Thr1579Ala) c.2042A>G n.671A>G c.5692A>G (p.Thr1898Ala) | |
11 | g.121160180A>T | CA383028327 | TBCEL-TECTA,TECTA | c.4735A>T (p.Thr1579Ser) c.2042A>T n.671A>T c.5692A>T (p.Thr1898Ser) | |
11 | g.121160181C>A | CA383028329 | TBCEL-TECTA,TECTA | c.4736C>A (p.Thr1579Asn) c.2043C>A n.672C>A c.5693C>A (p.Thr1898Asn) | |
11 | g.121160181C>G | CA383028331 | TBCEL-TECTA,TECTA | c.4736C>G (p.Thr1579Ser) c.2043C>G n.672C>G c.5693C>G (p.Thr1898Ser) | |
11 | g.121160181C>T | CA383028334 | TBCEL-TECTA,TECTA | c.4736C>T (p.Thr1579Ile) c.2043C>T n.672C>T c.5693C>T (p.Thr1898Ile) | gnomAD v4 |
11 | g.121160182C>A | CA477383177 | TBCEL-TECTA,TECTA | c.4737C>A (p.Thr1579=) c.2044C>A n.673C>A c.5694C>A (p.Thr1898=) | |
11 | g.121160182C>G | CA477383178 | TBCEL-TECTA,TECTA | c.4737C>G (p.Thr1579=) c.2044C>G n.673C>G c.5694C>G (p.Thr1898=) | |
11 | g.121160182C>T | CA477383179 | TBCEL-TECTA,TECTA | c.4737C>T (p.Thr1579=) c.2044C>T n.673C>T c.5694C>T (p.Thr1898=) | |
11 | g.121160183A>C | CA383028335 | TBCEL-TECTA,TECTA | c.4738A>C (p.Lys1580Gln) c.2045A>C n.674A>C c.5695A>C (p.Lys1899Gln) | ClinVar dbSNP gnomAD v4 |
11 | g.121160183A>G | CA383028337 | TBCEL-TECTA,TECTA | c.4738A>G (p.Lys1580Glu) c.2045A>G n.674A>G c.5695A>G (p.Lys1899Glu) | |
11 | g.121160183A>T | CA383028338 | TBCEL-TECTA,TECTA | c.4738A>T (p.Lys1580Ter) c.2045A>T n.674A>T c.5695A>T (p.Lys1899Ter) | |
11 | g.121160184A>C | CA383028342 | TBCEL-TECTA,TECTA | c.4739A>C (p.Lys1580Thr) c.2046A>C n.675A>C c.5696A>C (p.Lys1899Thr) | |
11 | g.121160184A>G | CA383028348 | TBCEL-TECTA,TECTA | c.4739A>G (p.Lys1580Arg) c.2046A>G n.675A>G c.5696A>G (p.Lys1899Arg) | |
11 | g.121160184A>T | CA383028345 | TBCEL-TECTA,TECTA | c.4739A>T (p.Lys1580Ile) c.2046A>T n.675A>T c.5696A>T (p.Lys1899Ile) | |
11 | g.121160185A= | CA2004739166 | TBCEL-TECTA,TECTA | c.4740A= (p.Lys1580=) c.2047A= n.676A= c.5697A= (p.Lys1899=) | |
11 | g.121160185A>C | CA6327555 | TBCEL-TECTA,TECTA | c.4740A>C (p.Lys1580Asn) c.2047A>C n.676A>C c.5697A>C (p.Lys1899Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121160185A>G | CA6327554 | TBCEL-TECTA,TECTA | c.4740A>G (p.Lys1580=) c.2047A>G n.676A>G c.5697A>G (p.Lys1899=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.121160185A>T | CA383028351 | TBCEL-TECTA,TECTA | c.4740A>T (p.Lys1580Asn) c.2047A>T n.676A>T c.5697A>T (p.Lys1899Asn) | |
11 | g.121160185_121160186insCACACCCAACAC | CA2793889334 | TBCEL-TECTA,TECTA | c.4740_4741insCACACCCAACAC (p.Lys1580_Ile1581insHisThrGlnHis) c.2047_2048insCACACCCAACAC n.676_677insCACACCCAACAC c.5697_5698insCACACCCAACAC (p.Lys1899_Ile1900insHisThrGlnHis) | |
11 | g.121160186A>C | CA383028352 | TBCEL-TECTA,TECTA | c.4741A>C (p.Ile1581Leu) c.2048A>C n.677A>C c.5698A>C (p.Ile1900Leu) | |
11 | g.121160186A>G | CA383028353 | TBCEL-TECTA,TECTA | c.4741A>G (p.Ile1581Val) c.2048A>G n.677A>G c.5698A>G (p.Ile1900Val) | |
11 | g.121160186A>T | CA383028354 | TBCEL-TECTA,TECTA | c.4741A>T (p.Ile1581Phe) c.2048A>T n.677A>T c.5698A>T (p.Ile1900Phe) | |
11 | g.121160187T>A | CA383028355 | TBCEL-TECTA,TECTA | c.4742T>A (p.Ile1581Asn) c.2049T>A n.678T>A c.5699T>A (p.Ile1900Asn) | gnomAD v4 |
11 | g.121160187T>C | CA383028356 | TBCEL-TECTA,TECTA | c.4742T>C (p.Ile1581Thr) c.2049T>C n.678T>C c.5699T>C (p.Ile1900Thr) | |
11 | g.121160187T>G | CA383028357 | TBCEL-TECTA,TECTA | c.4742T>G (p.Ile1581Ser) c.2049T>G n.678T>G c.5699T>G (p.Ile1900Ser) | |
11 | g.121160188C>A | CA477383183 | TBCEL-TECTA,TECTA | c.4743C>A (p.Ile1581=) c.2050C>A n.679C>A c.5700C>A (p.Ile1900=) | |
11 | g.121160188C= | CA2004739170 | TBCEL-TECTA,TECTA | c.4743C= (p.Ile1581=) c.2050C= n.679C= c.5700C= (p.Ile1900=) | |
11 | g.121160188C>G | CA383028359 | TBCEL-TECTA,TECTA | c.4743C>G (p.Ile1581Met) c.2050C>G n.679C>G c.5700C>G (p.Ile1900Met) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.121160188C>T | CA477383182 | TBCEL-TECTA,TECTA | c.4743C>T (p.Ile1581=) c.2050C>T n.679C>T c.5700C>T (p.Ile1900=) | COSMIC |
11 | g.121160189T>A | CA383028360 | TBCEL-TECTA,TECTA | c.4744T>A (p.Tyr1582Asn) c.2051T>A n.680T>A c.5701T>A (p.Tyr1901Asn) | |
11 | g.121160189T>C | CA6327556 | TBCEL-TECTA,TECTA | c.4744T>C (p.Tyr1582His) c.2051T>C n.680T>C c.5701T>C (p.Tyr1901His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121160189T>G | CA383028364 | TBCEL-TECTA,TECTA | c.4744T>G (p.Tyr1582Asp) c.2051T>G n.680T>G c.5701T>G (p.Tyr1901Asp) | |
11 | g.121160189T= | CA2004739173 | TBCEL-TECTA,TECTA | c.4744T= (p.Tyr1582=) c.2051T= n.680T= c.5701T= (p.Tyr1901=) |