17 | g.42184502_42184504dup | CA8573270 | HCRT | c.65_67dup (p.Leu22_Pro23insLeu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42184499_42184504dup | CA8573269 | HCRT | c.62_67dup (p.Leu22_Pro23insLeuLeu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42184496_42184504dup | CA626217902 | HCRT | c.59_67dup (p.Leu22_Pro23insLeuLeuLeu)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42184493_42184504dup | CA2637931008 | HCRT | c.56_67dup (p.Leu22_Pro23insLeuLeuLeuLeu)
| gnomAD v4 |
17 | g.42184502_42184504del | CA8573268 | HCRT | c.65_67del (p.Leu22del)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
17 | g.42184499_42184504del | CA8573271 | HCRT | c.62_67del (p.Leu21_Leu22del)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42184496_42184504del | CA626217901 | HCRT | c.59_67del (p.Leu20_Leu22del)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.42184493_42184504del | CA2637931006 | HCRT | c.56_67del (p.Leu19_Leu22del)
| gnomAD v4 |
17 | g.42184494_42184508dup | CA2637931011 | HCRT | c.45_59dup (p.Leu20_Leu21insLeuLeuLeuLeuLeu)
| gnomAD v4 |
17 | g.42184497_42184508dup | CA983804178 | HCRT | c.45_56dup (p.Leu19_Leu20insLeuLeuLeuLeu)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.42184496C>A | CA8573275 | HCRT | c.54G>T (p.Leu18=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42184496C= | CA2260368408 | HCRT | c.54G= (p.Leu18=)
| |
17 | g.42184496C>G | CA500214062 | HCRT | c.54G>C (p.Leu18=)
| |
17 | g.42184496C>T | CA500214063 | HCRT | c.54G>A (p.Leu18=)
| gnomAD v4 |
17 | g.42184497del | CA2637931013 | HCRT | c.53del (p.Leu18ArgfsTer?)
| gnomAD v4 |
17 | g.42184497A>C | CA399562406 | HCRT | c.53T>G (p.Leu18Arg)
| |
17 | g.42184497A>G | CA399562407 | HCRT | c.53T>C (p.Leu18Pro)
| |
17 | g.42184497A>T | CA399562408 | HCRT | c.53T>A (p.Leu18Gln)
| |
17 | g.42184500_42184508dup | CA626217903 | HCRT | c.45_53dup (p.Leu18_Leu19insLeuLeuLeu)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42184498G>A | CA500214064 | HCRT | c.52C>T (p.Leu18=)
| gnomAD v4 |
17 | g.42184498G>C | CA399562409 | HCRT | c.52C>G (p.Leu18Val)
| |
17 | g.42184498G>T | CA399562410 | HCRT | c.52C>A (p.Leu18Met)
| gnomAD v4 |
17 | g.42184498_42184499del | CA2637931014 | HCRT | c.51_52del (p.Leu18AlafsTer?)
| gnomAD v4 |
17 | g.42184499C>A | CA500214066 | HCRT | c.51G>T (p.Leu17=)
| |
17 | g.42184499C= | CA2260368409 | HCRT | c.51G= (p.Leu17=)
| |
17 | g.42184499C>G | CA500214065 | HCRT | c.51G>C (p.Leu17=)
| |
17 | g.42184499C>T | CA500214067 | HCRT | c.51G>A (p.Leu17=)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.42184499_42184500del | CA2637931015 | HCRT | c.50_51del (p.Leu17ProfsTer?)
| gnomAD v4 |
17 | g.42184500A>C | CA399562411 | HCRT | c.50T>G (p.Leu17Arg)
| |
17 | g.42184500A>G | CA399562412 | HCRT | c.50T>C (p.Leu17Pro)
| |
17 | g.42184500A>T | CA399562413 | HCRT | c.50T>A (p.Leu17Gln)
| |
17 | g.42184503_42184508dup | CA2260368410 | HCRT | c.45_50dup (p.Leu17_Leu18insLeuLeu)
| dbSNP |
17 | g.42184501G>A | CA500214068 | HCRT | c.49C>T (p.Leu17=)
| gnomAD v4 |
17 | g.42184501G>C | CA399562414 | HCRT | c.49C>G (p.Leu17Val)
| |
17 | g.42184501G>T | CA399562415 | HCRT | c.49C>A (p.Leu17Met)
| gnomAD v4 |
17 | g.42184502C>A | CA500214069 | HCRT | c.48G>T (p.Leu16=)
| gnomAD v4 |
17 | g.42184502C= | CA2260368411 | HCRT | c.48G= (p.Leu16=)
| |
17 | g.42184502C>G | CA500214070 | HCRT | c.48G>C (p.Leu16=)
| |
17 | g.42184502C>T | CA8573276 | HCRT | c.48G>A (p.Leu16=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42184503A= | CA2260368412 | HCRT | c.47T= (p.Leu16=)
| |
17 | g.42184503A>C | CA118704 | HCRT | c.47T>G (p.Leu16Arg)
| ClinVar dbSNP |
17 | g.42184503A>G | CA399562416 | HCRT | c.47T>C (p.Leu16Pro)
| |
17 | g.42184503A>T | CA399562417 | HCRT | c.47T>A (p.Leu16Gln)
| |
17 | g.42184504G>A | CA500214071 | HCRT | c.46C>T (p.Leu16=)
| gnomAD v4 |
17 | g.42184504G>C | CA399562418 | HCRT | c.46C>G (p.Leu16Val)
| dbSNP |
17 | g.42184504G= | CA2260368413 | HCRT | c.46C= (p.Leu16=)
| |
17 | g.42184504G>T | CA399562419 | HCRT | c.46C>A (p.Leu16Met)
| gnomAD v4 |
17 | g.42184505T>A | CA500214072 | HCRT | c.45A>T (p.Leu15=)
| |
17 | g.42184505T>C | CA290717931 | HCRT | c.45A>G (p.Leu15=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.42184505T>G | CA500214073 | HCRT | c.45A>C (p.Leu15=)
| |
17 | g.42184505T= | CA2260368414 | HCRT | c.45A= (p.Leu15=)
| |
17 | g.42184506A= | CA2260368415 | HCRT | c.44T= (p.Leu15=)
| |
17 | g.42184506A>C | CA399562420 | HCRT | c.44T>G (p.Leu15Arg)
| |
17 | g.42184506A>G | CA399562421 | HCRT | c.44T>C (p.Leu15Pro)
| dbSNP gnomAD v4 |
17 | g.42184506A>T | CA399562422 | HCRT | c.44T>A (p.Leu15Gln)
| |
17 | g.42184507G>A | CA500214074 | HCRT | c.43C>T (p.Leu15=)
| gnomAD v4 |
17 | g.42184507G>C | CA399562423 | HCRT | c.43C>G (p.Leu15Val)
| dbSNP gnomAD v4 |
17 | g.42184507G= | CA2260368416 | HCRT | c.43C= (p.Leu15=)
| |
17 | g.42184507G>T | CA399562424 | HCRT | c.43C>A (p.Leu15Ile)
| gnomAD v4 |
17 | g.42184508C>A | CA500214075 | HCRT | c.42G>T (p.Thr14=)
| gnomAD v4 |
17 | g.42184508C= | CA2260368417 | HCRT | c.42G= (p.Thr14=)
| |
17 | g.42184508C>G | CA500214077 | HCRT | c.42G>C (p.Thr14=)
| |
17 | g.42184508C>T | CA500214076 | HCRT | c.42G>A (p.Thr14=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42184509G>A | CA8573277 | HCRT | c.41C>T (p.Thr14Met)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42184509G>C | CA399562425 | HCRT | c.41C>G (p.Thr14Arg)
| |
17 | g.42184509G= | CA2260368418 | HCRT | c.41C= (p.Thr14=)
| |
17 | g.42184509G>T | CA399562426 | HCRT | c.41C>A (p.Thr14Lys)
| gnomAD v4 |
17 | g.42184510T>A | CA399562429 | HCRT | c.40A>T (p.Thr14Ser)
| |
17 | g.42184510T>C | CA399562428 | HCRT | c.40A>G (p.Thr14Ala)
| dbSNP |
17 | g.42184510T>G | CA399562427 | HCRT | c.40A>C (p.Thr14Pro)
| |
17 | g.42184511C>A | CA500214078 | HCRT | c.39G>T (p.Val13=)
| gnomAD v4 |
17 | g.42184511C>G | CA500214080 | HCRT | c.39G>C (p.Val13=)
| |
17 | g.42184511C>T | CA500214079 | HCRT | c.39G>A (p.Val13=)
| |
17 | g.42184512A>C | CA399562430 | HCRT | c.38T>G (p.Val13Gly)
| |
17 | g.42184512A>G | CA399562432 | HCRT | c.38T>C (p.Val13Ala)
| |
17 | g.42184512A>T | CA399562431 | HCRT | c.38T>A (p.Val13Glu)
| |
17 | g.42184513C>A | CA399562433 | HCRT | c.37G>T (p.Val13Leu)
| gnomAD v4 |
17 | g.42184513C>G | CA399562434 | HCRT | c.37G>C (p.Val13Leu)
| |
17 | g.42184513C>T | CA399562435 | HCRT | c.37G>A (p.Val13Met)
| gnomAD v4 |
17 | g.42184514G>A | CA500214082 | HCRT | c.36C>T (p.Ala12=)
| dbSNP gnomAD v4 |
17 | g.42184514G>C | CA500214081 | HCRT | c.36C>G (p.Ala12=)
| |
17 | g.42184514G= | CA2260368419 | HCRT | c.36C= (p.Ala12=)
| |
17 | g.42184514G>T | CA8573278 | HCRT | c.36C>A (p.Ala12=)
| dbSNP ExAC gnomAD v4 |
17 | g.42184515G>A | CA399562436 | HCRT | c.35C>T (p.Ala12Val)
| gnomAD v4 |
17 | g.42184515G>C | CA399562437 | HCRT | c.35C>G (p.Ala12Gly)
| |
17 | g.42184515G>T | CA399562438 | HCRT | c.35C>A (p.Ala12Asp)
| gnomAD v4 |
17 | g.42184516C>A | CA8573279 | HCRT | c.34G>T (p.Ala12Ser)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42184516C= | CA2260368420 | HCRT | c.34G= (p.Ala12=)
| |
17 | g.42184516C>G | CA399562439 | HCRT | c.34G>C (p.Ala12Pro)
| gnomAD v4 |
17 | g.42184516C>T | CA8573280 | HCRT | c.34G>A (p.Ala12Thr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42184517G>A | CA290717935 | HCRT | c.33C>T (p.Ala11=)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.42184517G>C | CA500214083 | HCRT | c.33C>G (p.Ala11=)
| |
17 | g.42184517G= | CA2260368421 | HCRT | c.33C= (p.Ala11=)
| |
17 | g.42184517G>T | CA500214084 | HCRT | c.33C>A (p.Ala11=)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.42184518G>A | CA399562442 | HCRT | c.32C>T (p.Ala11Val)
| dbSNP gnomAD v4 |
17 | g.42184518G>C | CA399562441 | HCRT | c.32C>G (p.Ala11Gly)
| |
17 | g.42184518G= | CA2260368422 | HCRT | c.32C= (p.Ala11=)
| |
17 | g.42184518G>T | CA399562440 | HCRT | c.32C>A (p.Ala11Asp)
| |
17 | g.42184519C>A | CA399562443 | HCRT | c.31G>T (p.Ala11Ser)
| |
17 | g.42184519C>G | CA399562444 | HCRT | c.31G>C (p.Ala11Pro)
| |
17 | g.42184519C>T | CA399562445 | HCRT | c.31G>A (p.Ala11Thr)
| gnomAD v4 |
17 | g.42184520C>A | CA399562446 | HCRT | c.30G>T (p.Trp10Cys)
| gnomAD v4 |
17 | g.42184520C>G | CA399562447 | HCRT | c.30G>C (p.Trp10Cys)
| |
17 | g.42184520C>T | CA399562448 | HCRT | c.30G>A (p.Trp10Ter)
| |
17 | g.42184521C>A | CA399562449 | HCRT | c.29G>T (p.Trp10Leu)
| gnomAD v4 |
17 | g.42184521C= | CA2260368423 | HCRT | c.29G= (p.Trp10=)
| |
17 | g.42184521C>G | CA399562450 | HCRT | c.29G>C (p.Trp10Ser)
| |
17 | g.42184521C>T | CA399562451 | HCRT | c.29G>A (p.Trp10Ter)
| dbSNP gnomAD v2 gnomAD v4 COSMIC |
17 | g.42184522A= | CA2260368424 | HCRT | c.28T= (p.Trp10=)
| |
17 | g.42184522A>C | CA399562452 | HCRT | c.28T>G (p.Trp10Gly)
| |
17 | g.42184522A>G | CA290717936 | HCRT | c.28T>C (p.Trp10Arg)
| dbSNP gnomAD v4 |
17 | g.42184522A>T | CA399562453 | HCRT | c.28T>A (p.Trp10Arg)
| |
17 | g.42184523G>A | CA500214086 | HCRT | c.27C>T (p.Ser9=)
| gnomAD v4 |
17 | g.42184523G>C | CA500214085 | HCRT | c.27C>G (p.Ser9=)
| |
17 | g.42184523G>T | CA500214087 | HCRT | c.27C>A (p.Ser9=)
| gnomAD v4 |
17 | g.42184524G>A | CA399562455 | HCRT | c.26C>T (p.Ser9Phe)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42184524G>C | CA399562456 | HCRT | c.26C>G (p.Ser9Cys)
| |
17 | g.42184524G= | CA2260368425 | HCRT | c.26C= (p.Ser9=)
| |
17 | g.42184524G>T | CA399562454 | HCRT | c.26C>A (p.Ser9Tyr)
| |
17 | g.42184525A>C | CA399562457 | HCRT | c.25T>G (p.Ser9Ala)
| |
17 | g.42184525A>G | CA399562458 | HCRT | c.25T>C (p.Ser9Pro)
| |
17 | g.42184525A>T | CA399562459 | HCRT | c.25T>A (p.Ser9Thr)
| |
17 | g.42184526del | CA2576273571 | HCRT | c.24del (p.Ser9ProfsTer5)
| |
17 | g.42184526G>A | CA500214088 | HCRT | c.24C>T (p.Val8=)
| gnomAD v4 |
17 | g.42184526G>C | CA500214089 | HCRT | c.24C>G (p.Val8=)
| |
17 | g.42184526G>T | CA500214090 | HCRT | c.24C>A (p.Val8=)
| |
17 | g.42184527A= | CA2260368426 | HCRT | c.23T= (p.Val8=)
| |
17 | g.42184527A>C | CA399562460 | HCRT | c.23T>G (p.Val8Gly)
| |
17 | g.42184527A>G | CA399562461 | HCRT | c.23T>C (p.Val8Ala)
| |
17 | g.42184527A>T | CA399562462 | HCRT | c.23T>A (p.Val8Asp)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.42184528C>A | CA399562463 | HCRT | c.22G>T (p.Val8Phe)
| gnomAD v4 |
17 | g.42184528C>G | CA399562464 | HCRT | c.22G>C (p.Val8Leu)
| |
17 | g.42184528C>T | CA399562465 | HCRT | c.22G>A (p.Val8Ile)
| |
17 | g.42184529C>A | CA399562466 | HCRT | c.22-1G>T (n.22-1G>T)
| gnomAD v4 |
17 | g.42184529C>G | CA399562467 | HCRT | c.22-1G>C (n.22-1G>C)
| |
17 | g.42184529C>T | CA399562468 | HCRT | c.22-1G>A (n.22-1G>A)
| gnomAD v4 |
17 | g.42184530T>A | CA399562470 | HCRT | c.22-2A>T (n.22-2A>T)
| |
17 | g.42184530T>C | CA399562471 | HCRT | c.22-2A>G (n.22-2A>G)
| gnomAD v4 |
17 | g.42184530T>G | CA399562469 | HCRT | c.22-2A>C (n.22-2A>C)
| |
17 | g.42184530_42184539del | CA2637931016 | HCRT | c.22-11_22-2del (n.22-11_22-2del)
| gnomAD v4 |
17 | g.42184532G>T | CA2637931017 | HCRT | c.22-4C>A (n.22-4C>A)
| gnomAD v4 |
17 | g.42184534dup | CA2637931018 | HCRT | c.22-4dup (n.22-4dup)
| gnomAD v4 |
17 | g.42184533G>A | CA8573281 | HCRT | c.22-5C>T (n.22-5C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42184533G= | CA2260368427 | HCRT | c.22-5C= (n.22-5C=)
| |
17 | g.42184533G>T | CA2637931019 | HCRT | c.22-5C>A (n.22-5C>A)
| gnomAD v4 |
17 | g.42184534G>C | CA2637931020 | HCRT | c.22-6C>G (n.22-6C>G)
| gnomAD v4 |
17 | g.42184534G= | CA2260368428 | HCRT | c.22-6C= (n.22-6C=)
| |
17 | g.42184534G>T | CA8573282 | HCRT | c.22-6C>A (n.22-6C>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42184536G>T | CA2637931021 | HCRT | c.22-8C>A (n.22-8C>A)
| gnomAD v4 |
17 | g.42184537A>G | CA2637931022 | HCRT | c.22-9T>C (n.22-9T>C)
| gnomAD v4 |
17 | g.42184538C>A | CA2637931023 | HCRT | c.22-10G>T (n.22-10G>T)
| gnomAD v4 |
17 | g.42184538C= | CA2260368429 | HCRT | c.22-10G= (n.22-10G=)
| |
17 | g.42184538C>G | CA8573283 | HCRT | c.22-10G>C (n.22-10G>C)
| dbSNP ExAC gnomAD v3 gnomAD v4 |
17 | g.42184538C>T | CA626217904 | HCRT | c.22-10G>A (n.22-10G>A)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.42184539G>A | CA8573284 | HCRT | c.22-11C>T (n.22-11C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42184539G>C | CA983804205 | HCRT | c.22-11C>G (n.22-11C>G)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.42184539G= | CA2260368430 | HCRT | c.22-11C= (n.22-11C=)
| |
17 | g.42184539G>T | CA2637931024 | HCRT | c.22-11C>A (n.22-11C>A)
| gnomAD v4 |
17 | g.42184539_42184541delinsGGA | CA2260368431 | HCRT | c.22-13_22-11delinsTCC (n.22-13_22-11delinsTCC)
| |
17 | g.42184542_42184543del | CA626041342 | HCRT | c.22-13_22-12del (n.22-13_22-12del)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.42184541A>G | CA2637931025 | HCRT | c.22-13T>C (n.22-13T>C)
| gnomAD v4 |
17 | g.42184542G>A | CA8573285 | HCRT | c.22-14C>T (n.22-14C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42184542G= | CA2260368432 | HCRT | c.22-14C= (n.22-14C=)
| |
17 | g.42184542G>T | CA2637931026 | HCRT | c.22-14C>A (n.22-14C>A)
| gnomAD v4 |
17 | g.42184543A= | CA2260368433 | HCRT | c.22-15T= (n.22-15T=)
| |
17 | g.42184543A>C | CA772085894 | HCRT | c.22-15T>G (n.22-15T>G)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.42184544C>A | CA772085897 | HCRT | c.22-16G>T (n.22-16G>T)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.42184544C= | CA2260368434 | HCRT | c.22-16G= (n.22-16G=)
| |
17 | g.42184544C>G | CA772085899 | HCRT | c.22-16G>C (n.22-16G>C)
| dbSNP |
17 | g.42184544C>T | CA2637931027 | HCRT | c.22-16G>A (n.22-16G>A)
| gnomAD v4 |
17 | g.42184545A= | CA2260368435 | HCRT | c.22-17T= (n.22-17T=)
| |
17 | g.42184545A>G | CA626041344 | HCRT | c.22-17T>C (n.22-17T>C)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.42184545A>T | CA2576273572 | HCRT | c.22-17T>A (n.22-17T>A)
| gnomAD v4 |
17 | g.42184546G>A | CA2637931028 | HCRT | c.22-18C>T (n.22-18C>T)
| gnomAD v4 |
17 | g.42184547G>A | CA983804211 | HCRT | c.22-19C>T (n.22-19C>T)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.42184547G= | CA2260368436 | HCRT | c.22-19C= (n.22-19C=)
| |
17 | g.42184548G>T | CA2637931029 | HCRT | c.22-20C>A (n.22-20C>A)
| gnomAD v4 |
17 | g.42184549C>A | CA983804213 | HCRT | c.22-21G>T (n.22-21G>T)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.42184549C= | CA2260368437 | HCRT | c.22-21G= (n.22-21G=)
| |
17 | g.42184549C>T | CA2637931030 | HCRT | c.22-21G>A (n.22-21G>A)
| gnomAD v4 |
17 | g.42184550G>A | CA626041345 | HCRT | c.22-22C>T (n.22-22C>T)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.42184550G>C | CA8573286 | HCRT | c.22-22C>G (n.22-22C>G)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42184550G= | CA2260368438 | HCRT | c.22-22C= (n.22-22C=)
| |
17 | g.42184550G>T | CA2260368439 | HCRT | c.22-22C>A (n.22-22C>A)
| dbSNP gnomAD v4 |
17 | g.42184551C>A | CA8573287 | HCRT | c.22-23G>T (n.22-23G>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42184551C= | CA2260368440 | HCRT | c.22-23G= (n.22-23G=)
| |
17 | g.42184551C>G | CA2637931031 | HCRT | c.22-23G>C (n.22-23G>C)
| gnomAD v4 |
17 | g.42184551C>T | CA8573288 | HCRT | c.22-23G>A (n.22-23G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42184552T>G | CA2637931032 | HCRT | c.22-24A>C (n.22-24A>C)
| gnomAD v4 |
17 | g.42184552dup | CA2576273573 | HCRT | c.22-24dup (n.22-24dup)
| |
17 | g.42184552_42184553delinsTG | CA2260368441 | HCRT | c.22-25_22-24delinsCA (n.22-25_22-24delinsCA)
| |
17 | g.42184553G>T | CA2637931033 | HCRT | c.22-25C>A (n.22-25C>A)
| gnomAD v4 |
17 | g.42184559dup | CA8573289 | HCRT | c.22-25dup (n.22-25dup)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42184558_42184559dup | CA2809514606 | HCRT | c.22-26_22-25dup (n.22-26_22-25dup)
| |
17 | g.42184559del | CA626041350 | HCRT | c.22-25del (n.22-25del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42184554G>A | CA290717941 | HCRT | c.22-26C>T (n.22-26C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42184554G>C | CA2637931034 | HCRT | c.22-26C>G (n.22-26C>G)
| gnomAD v4 |
17 | g.42184554G= | CA2260368442 | HCRT | c.22-26C= (n.22-26C=)
| |
17 | g.42184555G>A | CA2637931035 | HCRT | c.22-27C>T (n.22-27C>T)
| gnomAD v4 |
17 | g.42184556G>A | CA2637931036 | HCRT | c.22-28C>T (n.22-28C>T)
| gnomAD v4 |
17 | g.42184557G>A | CA626041352 | HCRT | c.22-29C>T (n.22-29C>T)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.42184557G= | CA2260368443 | HCRT | c.22-29C= (n.22-29C=)
| |
17 | g.42184558G>A | CA2637931037 | HCRT | c.22-30C>T (n.22-30C>T)
| gnomAD v4 |
17 | g.42184558G>C | CA2637931038 | HCRT | c.22-30C>G (n.22-30C>G)
| gnomAD v4 |
17 | g.42184558G= | CA2260368444 | HCRT | c.22-30C= (n.22-30C=)
| |
17 | g.42184558G>T | CA626041354 | HCRT | c.22-30C>A (n.22-30C>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42184559G>A | CA626041355 | HCRT | c.22-31C>T (n.22-31C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42184559G>C | CA2637931039 | HCRT | c.22-31C>G (n.22-31C>G)
| gnomAD v4 |
17 | g.42184559G= | CA2260368445 | HCRT | c.22-31C= (n.22-31C=)
| |
17 | g.42184559G>T | CA2260368446 | HCRT | c.22-31C>A (n.22-31C>A)
| dbSNP gnomAD v4 |
17 | g.42184560T>C | CA2637931040 | HCRT | c.22-32A>G (n.22-32A>G)
| dbSNP gnomAD v4 |
17 | g.42184560T>G | CA983804222 | HCRT | c.22-32A>C (n.22-32A>C)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.42184560T= | CA2260368447 | HCRT | c.22-32A= (n.22-32A=)
| |
17 | g.42184561C= | CA2260368448 | HCRT | c.22-33G= (n.22-33G=)
| |
17 | g.42184561C>T | CA2260368449 | HCRT | c.22-33G>A (n.22-33G>A)
| dbSNP |
17 | g.42184562T>A | CA2637931041 | HCRT | c.22-34A>T (n.22-34A>T)
| gnomAD v4 |
17 | g.42184562T>C | CA626041357 | HCRT | c.22-34A>G (n.22-34A>G)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.42184562T= | CA2260368450 | HCRT | c.22-34A= (n.22-34A=)
| |
17 | g.42184563T>C | CA290717942 | HCRT | c.22-35A>G (n.22-35A>G)
| dbSNP gnomAD v4 COSMIC |
17 | g.42184563T>G | CA2809514607 | HCRT | c.22-35A>C (n.22-35A>C)
| |
17 | g.42184563T= | CA2260368451 | HCRT | c.22-35A= (n.22-35A=)
| |
17 | g.42184564C>A | CA290717943 | HCRT | c.22-36G>T (n.22-36G>T)
| dbSNP gnomAD v4 |
17 | g.42184564C= | CA2260368452 | HCRT | c.22-36G= (n.22-36G=)
| |
17 | g.42184564C>T | CA290717944 | HCRT | c.22-36G>A (n.22-36G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42184565C>A | CA2637931042 | HCRT | c.22-37G>T (n.22-37G>T)
| gnomAD v4 |
17 | g.42184565C>T | CA2576273574 | HCRT | c.22-37G>A (n.22-37G>A)
| gnomAD v4 |
17 | g.42184566C= | CA2260368453 | HCRT | c.22-38G= (n.22-38G=)
| |
17 | g.42184566C>T | CA626041360 | HCRT | c.22-38G>A (n.22-38G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42184567A= | CA2260368454 | HCRT | c.22-39T= (n.22-39T=)
| |
17 | g.42184567A>C | CA2733697514 | HCRT | c.22-39T>G (n.22-39T>G)
| dbSNP |
17 | g.42184567A>G | CA2260368455 | HCRT | c.22-39T>C (n.22-39T>C)
| dbSNP |
17 | g.42184567A>T | CA2637931043 | HCRT | c.22-39T>A (n.22-39T>A)
| gnomAD v4 |
17 | g.42184568C>A | CA2637931045 | HCRT | c.22-40G>T (n.22-40G>T)
| gnomAD v4 |
17 | g.42184568C= | CA2260368456 | HCRT | c.22-40G= (n.22-40G=)
| |
17 | g.42184568C>T | CA626041361 | HCRT | c.22-40G>A (n.22-40G>A)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.42184568dup | CA2637931044 | HCRT | c.22-40dup (n.22-40dup)
| gnomAD v4 |
17 | g.42184569G>A | CA772085928 | HCRT | c.22-41C>T (n.22-41C>T)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.42184569G>C | CA8573290 | HCRT | c.22-41C>G (n.22-41C>G)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42184569G= | CA2260368457 | HCRT | c.22-41C= (n.22-41C=)
| |
17 | g.42184570G>A | CA2637931046 | HCRT | c.22-42C>T (n.22-42C>T)
| gnomAD v4 |
17 | g.42184571C>A | CA2637931047 | HCRT | c.22-43G>T (n.22-43G>T)
| gnomAD v4 |
17 | g.42184571C>T | CA2637931048 | HCRT | c.22-43G>A (n.22-43G>A)
| gnomAD v4 |
17 | g.42184572G>A | CA626041363 | HCRT | c.22-44C>T (n.22-44C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42184572G>C | CA2637931049 | HCRT | c.22-44C>G (n.22-44C>G)
| gnomAD v4 |
17 | g.42184572G= | CA2260368458 | HCRT | c.22-44C= (n.22-44C=)
| |
17 | g.42184572G>T | CA2637931050 | HCRT | c.22-44C>A (n.22-44C>A)
| gnomAD v4 |
17 | g.42184574C>T | CA2637931051 | HCRT | c.22-46G>A (n.22-46G>A)
| gnomAD v4 |
17 | g.42184575C>A | CA983804227 | HCRT | c.22-47G>T (n.22-47G>T)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.42184575C= | CA2260368459 | HCRT | c.22-47G= (n.22-47G=)
| |
17 | g.42184575C>G | CA2637931052 | HCRT | c.22-47G>C (n.22-47G>C)
| gnomAD v4 |
17 | g.42184575C>T | CA2576273575 | HCRT | c.22-47G>A (n.22-47G>A)
| gnomAD v4 |
17 | g.42184576G>A | CA2260368460 | HCRT | c.22-48C>T (n.22-48C>T)
| dbSNP gnomAD v4 |
17 | g.42184576G>C | CA2733697520 | HCRT | c.22-48C>G (n.22-48C>G)
| dbSNP |
17 | g.42184576G= | CA2260368461 | HCRT | c.22-48C= (n.22-48C=)
| |
17 | g.42184577C>A | CA290717945 | HCRT | c.22-49G>T (n.22-49G>T)
| dbSNP gnomAD v4 |
17 | g.42184577C= | CA2260368462 | HCRT | c.22-49G= (n.22-49G=)
| |
17 | g.42184578C= | CA2260368463 | HCRT | c.22-50G= (n.22-50G=)
| |
17 | g.42184578C>T | CA8573291 | HCRT | c.22-50G>A (n.22-50G>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42184579A= | CA2260368464 | HCRT | c.22-51T= (n.22-51T=)
| |
17 | g.42184579A>C | CA2260368465 | HCRT | c.22-51T>G (n.22-51T>G)
| dbSNP gnomAD v4 |
17 | g.42184579A>G | CA2637931053 | HCRT | c.22-51T>C (n.22-51T>C)
| gnomAD v4 |
17 | g.42184582A= | CA2260368466 | HCRT | c.22-54T= (n.22-54T=)
| |
17 | g.42184582A>G | CA290717947 | HCRT | c.22-54T>C (n.22-54T>C)
| dbSNP gnomAD v4 |
17 | g.42184583G>A | CA2637931054 | HCRT | c.22-55C>T (n.22-55C>T)
| gnomAD v4 |
17 | g.42184584C>A | CA2637931055 | HCRT | c.22-56G>T (n.22-56G>T)
| gnomAD v4 |
17 | g.42184584C= | CA2260368467 | HCRT | c.22-56G= (n.22-56G=)
| |
17 | g.42184584C>T | CA2260368468 | HCRT | c.22-56G>A (n.22-56G>A)
| dbSNP gnomAD v4 |
17 | g.42184586C>G | CA2637931056 | HCRT | c.22-58G>C (n.22-58G>C)
| gnomAD v4 |
17 | g.42184586C>T | CA2576273576 | HCRT | c.22-58G>A (n.22-58G>A)
| |
17 | g.42184587C>A | CA2637931057 | HCRT | c.22-59G>T (n.22-59G>T)
| gnomAD v4 |
17 | g.42184587C>T | CA2637931058 | HCRT | c.22-59G>A (n.22-59G>A)
| gnomAD v4 |
17 | g.42184588C>T | CA2637931059 | HCRT | c.22-60G>A (n.22-60G>A)
| gnomAD v4 |
17 | g.42184590C>A | CA2637931060 | HCRT | c.22-62G>T (n.22-62G>T)
| gnomAD v4 |
17 | g.42184590C= | CA2260368469 | HCRT | c.22-62G= (n.22-62G=)
| |
17 | g.42184590C>T | CA2260368470 | HCRT | c.22-62G>A (n.22-62G>A)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.42184591G>A | CA2637931061 | HCRT | c.22-63C>T (n.22-63C>T)
| gnomAD v4 |
17 | g.42184591G= | CA2260368471 | HCRT | c.22-63C= (n.22-63C=)
| |
17 | g.42184591G>T | CA983804235 | HCRT | c.22-63C>A (n.22-63C>A)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.42184592C>A | CA983804244 | HCRT | c.22-64G>T (n.22-64G>T)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.42184592C= | CA2260368472 | HCRT | c.22-64G= (n.22-64G=)
| |
17 | g.42184592C>T | CA2637931063 | HCRT | c.22-64G>A (n.22-64G>A)
| gnomAD v4 |
17 | g.42184594del | CA2637931062 | HCRT | c.22-64del (n.22-64del)
| gnomAD v4 |
17 | g.42184594C>A | CA2809514608 | HCRT | c.22-66G>T (n.22-66G>T)
| |
17 | g.42184595A= | CA2260368473 | HCRT | c.22-67T= (n.22-67T=)
| |
17 | g.42184595A>G | CA290717948 | HCRT | c.22-67T>C (n.22-67T>C)
| dbSNP gnomAD v4 |
17 | g.42184596G>A | CA772085949 | HCRT | c.22-68C>T (n.22-68C>T)
| dbSNP gnomAD v4 |
17 | g.42184596G= | CA2260368474 | HCRT | c.22-68C= (n.22-68C=)
| |
17 | g.42184596G>T | CA2576273577 | HCRT | c.22-68C>A (n.22-68C>A)
| |