UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.127421366C>A | CA348397869 | PROC | c.154C>A (p.His52Asn) c.119C>A (p.Ser40Ter) n.237C>A c.337C>A (p.His113Asn) c.217C>A (p.His73Asn) c.397C>A (p.His133Asn) c.238C>A (p.His80Asn) c.130C>A (p.His44Asn) c.148C>A (p.His50Asn) | |
| 2 | g.127421366C>G | CA348397871 | PROC | c.154C>G (p.His52Asp) c.119C>G (p.Ser40Ter) n.237C>G c.337C>G (p.His113Asp) c.217C>G (p.His73Asp) c.397C>G (p.His133Asp) c.238C>G (p.His80Asp) c.130C>G (p.His44Asp) c.148C>G (p.His50Asp) | |
| 2 | g.127421366C>T | CA348397872 | PROC | c.154C>T (p.His52Tyr) c.119C>T (p.Ser40Leu) n.237C>T c.337C>T (p.His113Tyr) c.217C>T (p.His73Tyr) c.397C>T (p.His133Tyr) c.238C>T (p.His80Tyr) c.130C>T (p.His44Tyr) c.148C>T (p.His50Tyr) | |
| 2 | g.127421367A>C | CA348397873 | PROC | c.155A>C (p.His52Pro) c.120A>C (p.Ser40=) n.238A>C c.338A>C (p.His113Pro) c.218A>C (p.His73Pro) c.398A>C (p.His133Pro) c.239A>C (p.His80Pro) c.131A>C (p.His44Pro) c.149A>C (p.His50Pro) | |
| 2 | g.127421367A>G | CA348397875 | PROC | c.155A>G (p.His52Arg) c.120A>G (p.Ser40=) n.238A>G c.338A>G (p.His113Arg) c.218A>G (p.His73Arg) c.398A>G (p.His133Arg) c.239A>G (p.His80Arg) c.131A>G (p.His44Arg) c.149A>G (p.His50Arg) | |
| 2 | g.127421367A>T | CA348397878 | PROC | c.155A>T (p.His52Leu) c.120A>T (p.Ser40=) n.238A>T c.338A>T (p.His113Leu) c.218A>T (p.His73Leu) c.398A>T (p.His133Leu) c.239A>T (p.His80Leu) c.131A>T (p.His44Leu) c.149A>T (p.His50Leu) | |
| 2 | g.127421368C>A | CA348397881 | PROC | c.156C>A (p.His52Gln) c.121C>A (p.Gln41Lys) n.239C>A c.339C>A (p.His113Gln) c.219C>A (p.His73Gln) c.399C>A (p.His133Gln) c.240C>A (p.His80Gln) c.132C>A (p.His44Gln) c.150C>A (p.His50Gln) | |
| 2 | g.127421368C= | CA1286880836 | PROC | c.156C= (p.His52=) c.121C= (p.Gln41=) n.239C= c.339C= (p.His113=) c.219C= (p.His73=) c.399C= (p.His133=) c.240C= (p.His80=) c.132C= (p.His44=) c.150C= (p.His50=) | |
| 2 | g.127421368C>G | CA348397883 | PROC | c.156C>G (p.His52Gln) c.121C>G (p.Gln41Glu) n.239C>G c.339C>G (p.His113Gln) c.219C>G (p.His73Gln) c.399C>G (p.His133Gln) c.240C>G (p.His80Gln) c.132C>G (p.His44Gln) c.150C>G (p.His50Gln) | ClinVar dbSNP |
| 2 | g.127421368C>T | CA428617429 | PROC | c.156C>T (p.His52=) c.121C>T (p.Gln41Ter) n.239C>T c.339C>T (p.His113=) c.219C>T (p.His73=) c.399C>T (p.His133=) c.240C>T (p.His80=) c.132C>T (p.His44=) c.150C>T (p.His50=) | gnomAD v4 |
| 2 | g.127421369A>C | CA348397886 | PROC | c.157A>C (p.Ser53Arg) c.122A>C (p.Gln41Pro) n.240A>C c.340A>C (p.Ser114Arg) c.220A>C (p.Ser74Arg) c.400A>C (p.Ser134Arg) c.241A>C (p.Ser81Arg) c.133A>C (p.Ser45Arg) c.151A>C (p.Ser51Arg) | |
| 2 | g.127421369A>G | CA348397888 | PROC | c.157A>G (p.Ser53Gly) c.122A>G (p.Gln41Arg) n.240A>G c.340A>G (p.Ser114Gly) c.220A>G (p.Ser74Gly) c.400A>G (p.Ser134Gly) c.241A>G (p.Ser81Gly) c.133A>G (p.Ser45Gly) c.151A>G (p.Ser51Gly) | gnomAD v4 |
| 2 | g.127421369A>T | CA348397889 | PROC | c.157A>T (p.Ser53Cys) c.122A>T (p.Gln41Leu) n.240A>T c.340A>T (p.Ser114Cys) c.220A>T (p.Ser74Cys) c.400A>T (p.Ser134Cys) c.241A>T (p.Ser81Cys) c.133A>T (p.Ser45Cys) c.151A>T (p.Ser51Cys) | |
| 2 | g.127421370G>A | CA348397891 | PROC | c.158G>A (p.Ser53Asn) c.123G>A (p.Gln41=) n.241G>A c.341G>A (p.Ser114Asn) c.221G>A (p.Ser74Asn) c.401G>A (p.Ser134Asn) c.242G>A (p.Ser81Asn) c.134G>A (p.Ser45Asn) c.152G>A (p.Ser51Asn) | |
| 2 | g.127421370G>C | CA348397895 | PROC | c.158G>C (p.Ser53Thr) c.123G>C (p.Gln41His) n.241G>C c.341G>C (p.Ser114Thr) c.221G>C (p.Ser74Thr) c.401G>C (p.Ser134Thr) c.242G>C (p.Ser81Thr) c.134G>C (p.Ser45Thr) c.152G>C (p.Ser51Thr) | |
| 2 | g.127421370G>T | CA348397893 | PROC | c.158G>T (p.Ser53Ile) c.123G>T (p.Gln41His) n.241G>T c.341G>T (p.Ser114Ile) c.221G>T (p.Ser74Ile) c.401G>T (p.Ser134Ile) c.242G>T (p.Ser81Ile) c.134G>T (p.Ser45Ile) c.152G>T (p.Ser51Ile) | |
| 2 | g.127421371del | CA2660995701 | PROC | c.159del (p.Ser53ArgfsTer8) c.124del (p.Gln42SerfsTer?) n.242del c.342del (p.Ser114ArgfsTer8) c.222del (p.Ser74ArgfsTer8) c.402del (p.Ser134ArgfsTer8) c.243del (p.Ser81ArgfsTer8) c.135del (p.Ser45ArgfsTer8) c.153del (p.Ser51ArgfsTer8) | gnomAD v4 |
| 2 | g.127421371C>A | CA348397898 | PROC | c.159C>A (p.Ser53Arg) c.124C>A (p.Gln42Lys) n.242C>A c.342C>A (p.Ser114Arg) c.222C>A (p.Ser74Arg) c.402C>A (p.Ser134Arg) c.243C>A (p.Ser81Arg) c.135C>A (p.Ser45Arg) c.153C>A (p.Ser51Arg) | |
| 2 | g.127421371C>G | CA348397900 | PROC | c.159C>G (p.Ser53Arg) c.124C>G (p.Gln42Glu) n.242C>G c.342C>G (p.Ser114Arg) c.222C>G (p.Ser74Arg) c.402C>G (p.Ser134Arg) c.243C>G (p.Ser81Arg) c.135C>G (p.Ser45Arg) c.153C>G (p.Ser51Arg) | |
| 2 | g.127421371C>T | CA428617430 | PROC | c.159C>T (p.Ser53=) c.124C>T (p.Gln42Ter) n.242C>T c.342C>T (p.Ser114=) c.222C>T (p.Ser74=) c.402C>T (p.Ser134=) c.243C>T (p.Ser81=) c.135C>T (p.Ser45=) c.153C>T (p.Ser51=) | |
| 2 | g.127421372A= | CA1286880843 | PROC | c.160A= (p.Ser54=) c.125A= (p.Gln42=) n.243A= c.343A= (p.Ser115=) c.223A= (p.Ser75=) c.403A= (p.Ser135=) c.244A= (p.Ser82=) c.136A= (p.Ser46=) c.154A= (p.Ser52=) | |
| 2 | g.127421372A>C | CA348397903 | PROC | c.160A>C (p.Ser54Arg) c.125A>C (p.Gln42Pro) n.243A>C c.343A>C (p.Ser115Arg) c.223A>C (p.Ser75Arg) c.403A>C (p.Ser135Arg) c.244A>C (p.Ser82Arg) c.136A>C (p.Ser46Arg) c.154A>C (p.Ser52Arg) | |
| 2 | g.127421372A>G | CA348397907 | PROC | c.160A>G (p.Ser54Gly) c.125A>G (p.Gln42Arg) n.243A>G c.343A>G (p.Ser115Gly) c.223A>G (p.Ser75Gly) c.403A>G (p.Ser135Gly) c.244A>G (p.Ser82Gly) c.136A>G (p.Ser46Gly) c.154A>G (p.Ser52Gly) | |
| 2 | g.127421372A>T | CA211721 | PROC | c.160A>T (p.Ser54Cys) c.125A>T (p.Gln42Leu) n.243A>T c.343A>T (p.Ser115Cys) c.223A>T (p.Ser75Cys) c.403A>T (p.Ser135Cys) c.244A>T (p.Ser82Cys) c.136A>T (p.Ser46Cys) c.154A>T (p.Ser52Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.127421373G>A | CA348397911 | PROC | c.161G>A (p.Ser54Asn) c.126G>A (p.Gln42=) n.244G>A c.344G>A (p.Ser115Asn) c.224G>A (p.Ser75Asn) c.404G>A (p.Ser135Asn) c.245G>A (p.Ser82Asn) c.137G>A (p.Ser46Asn) c.155G>A (p.Ser52Asn) | gnomAD v4 |
| 2 | g.127421373G>C | CA348397913 | PROC | c.161G>C (p.Ser54Thr) c.126G>C (p.Gln42His) n.244G>C c.344G>C (p.Ser115Thr) c.224G>C (p.Ser75Thr) c.404G>C (p.Ser135Thr) c.245G>C (p.Ser82Thr) c.137G>C (p.Ser46Thr) c.155G>C (p.Ser52Thr) | |
| 2 | g.127421373G>T | CA348397915 | PROC | c.161G>T (p.Ser54Ile) c.126G>T (p.Gln42His) n.244G>T c.344G>T (p.Ser115Ile) c.224G>T (p.Ser75Ile) c.404G>T (p.Ser135Ile) c.245G>T (p.Ser82Ile) c.137G>T (p.Ser46Ile) c.155G>T (p.Ser52Ile) | COSMIC COSMIC |
| 2 | g.127421373_127421374insAGTG | CA2660995714 | PROC | c.161_162insAGTG (p.Ser54ArgfsTer13) c.126_127insAGTG (p.Pro43SerfsTer8) n.244_245insAGTG c.344_345insAGTG (p.Ser115ArgfsTer13) c.224_225insAGTG (p.Ser75ArgfsTer13) c.404_405insAGTG (p.Ser135ArgfsTer13) c.245_246insAGTG (p.Ser82ArgfsTer13) c.137_138insAGTG (p.Ser46ArgfsTer13) c.155_156insAGTG (p.Ser52ArgfsTer13) | gnomAD v4 |
| 2 | g.127421374C>A | CA348397918 | PROC | c.162C>A (p.Ser54Arg) c.127C>A (p.Pro43Thr) n.245C>A c.345C>A (p.Ser115Arg) c.225C>A (p.Ser75Arg) c.405C>A (p.Ser135Arg) c.246C>A (p.Ser82Arg) c.138C>A (p.Ser46Arg) c.156C>A (p.Ser52Arg) | |
| 2 | g.127421374C= | CA1286880853 | PROC | c.162C= (p.Ser54=) c.127C= (p.Pro43=) n.245C= c.345C= (p.Ser115=) c.225C= (p.Ser75=) c.405C= (p.Ser135=) c.246C= (p.Ser82=) c.138C= (p.Ser46=) c.156C= (p.Ser52=) | |
| 2 | g.127421374C>G | CA348397920 | PROC | c.162C>G (p.Ser54Arg) c.127C>G (p.Pro43Ala) n.245C>G c.345C>G (p.Ser115Arg) c.225C>G (p.Ser75Arg) c.405C>G (p.Ser135Arg) c.246C>G (p.Ser82Arg) c.138C>G (p.Ser46Arg) c.156C>G (p.Ser52Arg) | |
| 2 | g.127421374C>T | CA428617431 | PROC | c.162C>T (p.Ser54=) c.127C>T (p.Pro43Ser) n.245C>T c.345C>T (p.Ser115=) c.225C>T (p.Ser75=) c.405C>T (p.Ser135=) c.246C>T (p.Ser82=) c.138C>T (p.Ser46=) c.156C>T (p.Ser52=) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 2 | g.127421375C>A | CA348397927 | PROC | c.163C>A (p.Leu55Met) c.128C>A (p.Pro43His) n.246C>A c.346C>A (p.Leu116Met) c.226C>A (p.Leu76Met) c.406C>A (p.Leu136Met) c.247C>A (p.Leu83Met) c.139C>A (p.Leu47Met) c.157C>A (p.Leu53Met) | gnomAD v4 |
| 2 | g.127421375C>G | CA348397929 | PROC | c.163C>G (p.Leu55Val) c.128C>G (p.Pro43Arg) n.246C>G c.346C>G (p.Leu116Val) c.226C>G (p.Leu76Val) c.406C>G (p.Leu136Val) c.247C>G (p.Leu83Val) c.139C>G (p.Leu47Val) c.157C>G (p.Leu53Val) | |
| 2 | g.127421375C>T | CA428617432 | PROC | c.163C>T (p.Leu55=) c.128C>T (p.Pro43Leu) n.246C>T c.346C>T (p.Leu116=) c.226C>T (p.Leu76=) c.406C>T (p.Leu136=) c.247C>T (p.Leu83=) c.139C>T (p.Leu47=) c.157C>T (p.Leu53=) | |
| 2 | g.127421376del | CA2586969844 | PROC | c.164del (p.Leu55ArgfsTer6) c.129del (p.Gly44GlufsTer?) n.247del c.347del (p.Leu116ArgfsTer6) c.227del (p.Leu76ArgfsTer6) c.407del (p.Leu136ArgfsTer6) c.248del (p.Leu83ArgfsTer6) c.140del (p.Leu47ArgfsTer6) c.158del (p.Leu53ArgfsTer6) | |
| 2 | g.127421376T>A | CA348397932 | PROC | c.164T>A (p.Leu55Gln) c.129T>A (p.Pro43=) n.247T>A c.347T>A (p.Leu116Gln) c.227T>A (p.Leu76Gln) c.407T>A (p.Leu136Gln) c.248T>A (p.Leu83Gln) c.140T>A (p.Leu47Gln) c.158T>A (p.Leu53Gln) | |
| 2 | g.127421376T>C | CA348397935 | PROC | c.164T>C (p.Leu55Pro) c.129T>C (p.Pro43=) n.247T>C c.347T>C (p.Leu116Pro) c.227T>C (p.Leu76Pro) c.407T>C (p.Leu136Pro) c.248T>C (p.Leu83Pro) c.140T>C (p.Leu47Pro) c.158T>C (p.Leu53Pro) | ClinVar |
| 2 | g.127421376T>G | CA348397936 | PROC | c.164T>G (p.Leu55Arg) c.129T>G (p.Pro43=) n.247T>G c.347T>G (p.Leu116Arg) c.227T>G (p.Leu76Arg) c.407T>G (p.Leu136Arg) c.248T>G (p.Leu83Arg) c.140T>G (p.Leu47Arg) c.158T>G (p.Leu53Arg) | |
| 2 | g.127421377G>A | CA428617433 | PROC | c.165G>A (p.Leu55=) c.130G>A (p.Gly44Arg) n.248G>A c.348G>A (p.Leu116=) c.228G>A (p.Leu76=) c.408G>A (p.Leu136=) c.249G>A (p.Leu83=) c.141G>A (p.Leu47=) c.159G>A (p.Leu53=) | gnomAD v4 |
| 2 | g.127421377G>C | CA428617434 | PROC | c.165G>C (p.Leu55=) c.130G>C (p.Gly44Arg) n.248G>C c.348G>C (p.Leu116=) c.228G>C (p.Leu76=) c.408G>C (p.Leu136=) c.249G>C (p.Leu83=) c.141G>C (p.Leu47=) c.159G>C (p.Leu53=) | |
| 2 | g.127421377G>T | CA428617435 | PROC | c.165G>T (p.Leu55=) c.130G>T (p.Gly44Ter) n.248G>T c.348G>T (p.Leu116=) c.228G>T (p.Leu76=) c.408G>T (p.Leu136=) c.249G>T (p.Leu83=) c.141G>T (p.Leu47=) c.159G>T (p.Leu53=) | |
| 2 | g.127421377_127421378del | CA2660995723 | PROC | c.165_166del (p.Glu56AlafsTer9) c.130_131del (p.Gly44SerfsTer5) n.248_249del c.348_349del (p.Glu117AlafsTer9) c.228_229del (p.Glu77AlafsTer9) c.408_409del (p.Glu137AlafsTer9) c.249_250del (p.Glu84AlafsTer9) c.141_142del (p.Glu48AlafsTer9) c.159_160del (p.Glu54AlafsTer9) | gnomAD v4 |
| 2 | g.127421378G>A | CA348397944 | PROC | c.166G>A (p.Glu56Lys) c.131G>A (p.Gly44Glu) n.249G>A c.349G>A (p.Glu117Lys) c.229G>A (p.Glu77Lys) c.409G>A (p.Glu137Lys) c.250G>A (p.Glu84Lys) c.142G>A (p.Glu48Lys) c.160G>A (p.Glu54Lys) | dbSNP |
| 2 | g.127421378G>C | CA348397940 | PROC | c.166G>C (p.Glu56Gln) c.131G>C (p.Gly44Ala) n.249G>C c.349G>C (p.Glu117Gln) c.229G>C (p.Glu77Gln) c.409G>C (p.Glu137Gln) c.250G>C (p.Glu84Gln) c.142G>C (p.Glu48Gln) c.160G>C (p.Glu54Gln) | gnomAD v4 COSMIC |
| 2 | g.127421378G= | CA1286880856 | PROC | c.166G= (p.Glu56=) c.131G= (p.Gly44=) n.249G= c.349G= (p.Glu117=) c.229G= (p.Glu77=) c.409G= (p.Glu137=) c.250G= (p.Glu84=) c.142G= (p.Glu48=) c.160G= (p.Glu54=) | |
| 2 | g.127421378G>T | CA348397942 | PROC | c.166G>T (p.Glu56Ter) c.131G>T (p.Gly44Val) n.249G>T c.349G>T (p.Glu117Ter) c.229G>T (p.Glu77Ter) c.409G>T (p.Glu137Ter) c.250G>T (p.Glu84Ter) c.142G>T (p.Glu48Ter) c.160G>T (p.Glu54Ter) | |
| 2 | g.127421379A>C | CA348397947 | PROC | c.167A>C (p.Glu56Ala) c.132A>C (p.Gly44=) n.250A>C c.350A>C (p.Glu117Ala) c.230A>C (p.Glu77Ala) c.410A>C (p.Glu137Ala) c.251A>C (p.Glu84Ala) c.143A>C (p.Glu48Ala) c.161A>C (p.Glu54Ala) | |
| 2 | g.127421379A>G | CA348397952 | PROC | c.167A>G (p.Glu56Gly) c.132A>G (p.Gly44=) n.250A>G c.350A>G (p.Glu117Gly) c.230A>G (p.Glu77Gly) c.410A>G (p.Glu137Gly) c.251A>G (p.Glu84Gly) c.143A>G (p.Glu48Gly) c.161A>G (p.Glu54Gly) | |
| 2 | g.127421379A>T | CA348397953 | PROC | c.167A>T (p.Glu56Val) c.132A>T (p.Gly44=) n.250A>T c.350A>T (p.Glu117Val) c.230A>T (p.Glu77Val) c.410A>T (p.Glu137Val) c.251A>T (p.Glu84Val) c.143A>T (p.Glu48Val) c.161A>T (p.Glu54Val) | |
| 2 | g.127421380G>A | CA428617436 | PROC | c.168G>A (p.Glu56=) c.133G>A (p.Ala45Thr) n.251G>A c.351G>A (p.Glu117=) c.231G>A (p.Glu77=) c.411G>A (p.Glu137=) c.252G>A (p.Glu84=) c.144G>A (p.Glu48=) c.162G>A (p.Glu54=) | dbSNP gnomAD v4 |
| 2 | g.127421380G>C | CA348397955 | PROC | c.168G>C (p.Glu56Asp) c.133G>C (p.Ala45Pro) n.251G>C c.351G>C (p.Glu117Asp) c.231G>C (p.Glu77Asp) c.411G>C (p.Glu137Asp) c.252G>C (p.Glu84Asp) c.144G>C (p.Glu48Asp) c.162G>C (p.Glu54Asp) | |
| 2 | g.127421380G= | CA1286880859 | PROC | c.168G= (p.Glu56=) c.133G= (p.Ala45=) n.251G= c.351G= (p.Glu117=) c.231G= (p.Glu77=) c.411G= (p.Glu137=) c.252G= (p.Glu84=) c.144G= (p.Glu48=) c.162G= (p.Glu54=) | |
| 2 | g.127421380G>T | CA348397958 | PROC | c.168G>T (p.Glu56Asp) c.133G>T (p.Ala45Ser) n.251G>T c.351G>T (p.Glu117Asp) c.231G>T (p.Glu77Asp) c.411G>T (p.Glu137Asp) c.252G>T (p.Glu84Asp) c.144G>T (p.Glu48Asp) c.162G>T (p.Glu54Asp) | |
| 2 | g.127421381C>A | CA428617437 | PROC | c.169C>A (p.Arg57=) c.134C>A (p.Ala45Glu) n.252C>A c.352C>A (p.Arg118=) c.232C>A (p.Arg78=) c.412C>A (p.Arg138=) c.253C>A (p.Arg85=) c.145C>A (p.Arg49=) c.163C>A (p.Arg55=) | gnomAD v4 |
| 2 | g.127421381C= | CA1286880865 | PROC | c.169C= (p.Arg57=) c.134C= (p.Ala45=) n.252C= c.352C= (p.Arg118=) c.232C= (p.Arg78=) c.412C= (p.Arg138=) c.253C= (p.Arg85=) c.145C= (p.Arg49=) c.163C= (p.Arg55=) | |
| 2 | g.127421381C>G | CA348397959 | PROC | c.169C>G (p.Arg57Gly) c.134C>G (p.Ala45Gly) n.252C>G c.352C>G (p.Arg118Gly) c.232C>G (p.Arg78Gly) c.412C>G (p.Arg138Gly) c.253C>G (p.Arg85Gly) c.145C>G (p.Arg49Gly) c.163C>G (p.Arg55Gly) | |
| 2 | g.127421381C>T | CA334388 | PROC | c.169C>T (p.Arg57Trp) c.134C>T (p.Ala45Val) n.252C>T c.352C>T (p.Arg118Trp) c.232C>T (p.Arg78Trp) c.412C>T (p.Arg138Trp) c.253C>T (p.Arg85Trp) c.145C>T (p.Arg49Trp) c.163C>T (p.Arg55Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.127421382G>A | CA1859250 | PROC | c.170G>A (p.Arg57Gln) c.135G>A (p.Ala45=) n.253G>A c.353G>A (p.Arg118Gln) c.233G>A (p.Arg78Gln) c.413G>A (p.Arg138Gln) c.254G>A (p.Arg85Gln) c.146G>A (p.Arg49Gln) c.164G>A (p.Arg55Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.127421382G>C | CA348397964 | PROC | c.170G>C (p.Arg57Pro) c.135G>C (p.Ala45=) n.253G>C c.353G>C (p.Arg118Pro) c.233G>C (p.Arg78Pro) c.413G>C (p.Arg138Pro) c.254G>C (p.Arg85Pro) c.146G>C (p.Arg49Pro) c.164G>C (p.Arg55Pro) | gnomAD v4 |
| 2 | g.127421382G= | CA1286880872 | PROC | c.170G= (p.Arg57=) c.135G= (p.Ala45=) n.253G= c.353G= (p.Arg118=) c.233G= (p.Arg78=) c.413G= (p.Arg138=) c.254G= (p.Arg85=) c.146G= (p.Arg49=) c.164G= (p.Arg55=) | |
| 2 | g.127421382G>T | CA55343006 | PROC | c.170G>T (p.Arg57Leu) c.135G>T (p.Ala45=) n.253G>T c.353G>T (p.Arg118Leu) c.233G>T (p.Arg78Leu) c.413G>T (p.Arg138Leu) c.254G>T (p.Arg85Leu) c.146G>T (p.Arg49Leu) c.164G>T (p.Arg55Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.127421383G>A | CA428617438 | PROC | c.171G>A (p.Arg57=) c.136G>A (p.Gly46Arg) n.254G>A c.354G>A (p.Arg118=) c.234G>A (p.Arg78=) c.414G>A (p.Arg138=) c.255G>A (p.Arg85=) c.147G>A (p.Arg49=) c.165G>A (p.Arg55=) | gnomAD v4 |
| 2 | g.127421383G>C | CA428617439 | PROC | c.171G>C (p.Arg57=) c.136G>C (p.Gly46Arg) n.254G>C c.354G>C (p.Arg118=) c.234G>C (p.Arg78=) c.414G>C (p.Arg138=) c.255G>C (p.Arg85=) c.147G>C (p.Arg49=) c.165G>C (p.Arg55=) | |
| 2 | g.127421383G>T | CA428617440 | PROC | c.171G>T (p.Arg57=) c.136G>T (p.Gly46Ter) n.254G>T c.354G>T (p.Arg118=) c.234G>T (p.Arg78=) c.414G>T (p.Arg138=) c.255G>T (p.Arg85=) c.147G>T (p.Arg49=) c.165G>T (p.Arg55=) | |
| 2 | g.127421384G>A | CA348397973 | PROC | c.172G>A (p.Glu58Lys) c.137G>A (p.Gly46Glu) n.255G>A c.355G>A (p.Glu119Lys) c.235G>A (p.Glu79Lys) c.415G>A (p.Glu139Lys) c.256G>A (p.Glu86Lys) c.148G>A (p.Glu50Lys) c.166G>A (p.Glu56Lys) | |
| 2 | g.127421384G>C | CA348397975 | PROC | c.172G>C (p.Glu58Gln) c.137G>C (p.Gly46Ala) n.255G>C c.355G>C (p.Glu119Gln) c.235G>C (p.Glu79Gln) c.415G>C (p.Glu139Gln) c.256G>C (p.Glu86Gln) c.148G>C (p.Glu50Gln) c.166G>C (p.Glu56Gln) | |
| 2 | g.127421384G>T | CA348397970 | PROC | c.172G>T (p.Glu58Ter) c.137G>T (p.Gly46Val) n.255G>T c.355G>T (p.Glu119Ter) c.235G>T (p.Glu79Ter) c.415G>T (p.Glu139Ter) c.256G>T (p.Glu86Ter) c.148G>T (p.Glu50Ter) c.166G>T (p.Glu56Ter) | |
| 2 | g.127421385A>C | CA348397982 | PROC | c.173A>C (p.Glu58Ala) c.138A>C (p.Gly46=) n.256A>C c.356A>C (p.Glu119Ala) c.236A>C (p.Glu79Ala) c.416A>C (p.Glu139Ala) c.257A>C (p.Glu86Ala) c.149A>C (p.Glu50Ala) c.167A>C (p.Glu56Ala) | |
| 2 | g.127421385A>G | CA348397984 | PROC | c.173A>G (p.Glu58Gly) c.138A>G (p.Gly46=) n.256A>G c.356A>G (p.Glu119Gly) c.236A>G (p.Glu79Gly) c.416A>G (p.Glu139Gly) c.257A>G (p.Glu86Gly) c.149A>G (p.Glu50Gly) c.167A>G (p.Glu56Gly) | |
| 2 | g.127421385A>T | CA348397987 | PROC | c.173A>T (p.Glu58Val) c.138A>T (p.Gly46=) n.256A>T c.356A>T (p.Glu119Val) c.236A>T (p.Glu79Val) c.416A>T (p.Glu139Val) c.257A>T (p.Glu86Val) c.149A>T (p.Glu50Val) c.167A>T (p.Glu56Val) | |
| 2 | g.127421386G>A | CA428617441 | PROC | c.174G>A (p.Glu58=) c.139G>A (p.Val47Met) n.257G>A c.357G>A (p.Glu119=) c.237G>A (p.Glu79=) c.417G>A (p.Glu139=) c.258G>A (p.Glu86=) c.150G>A (p.Glu50=) c.168G>A (p.Glu56=) | |
| 2 | g.127421386G>C | CA348397989 | PROC | c.174G>C (p.Glu58Asp) c.139G>C (p.Val47Leu) n.257G>C c.357G>C (p.Glu119Asp) c.237G>C (p.Glu79Asp) c.417G>C (p.Glu139Asp) c.258G>C (p.Glu86Asp) c.150G>C (p.Glu50Asp) c.168G>C (p.Glu56Asp) | |
| 2 | g.127421386G>T | CA348397992 | PROC | c.174G>T (p.Glu58Asp) c.139G>T (p.Val47Leu) n.257G>T c.357G>T (p.Glu119Asp) c.237G>T (p.Glu79Asp) c.417G>T (p.Glu139Asp) c.258G>T (p.Glu86Asp) c.150G>T (p.Glu50Asp) c.168G>T (p.Glu56Asp) | |
| 2 | g.127421387T>A | CA348398003 | PROC | c.175T>A (p.Cys59Ser) c.140T>A (p.Val47Glu) n.258T>A c.358T>A (p.Cys120Ser) c.238T>A (p.Cys80Ser) c.418T>A (p.Cys140Ser) c.259T>A (p.Cys87Ser) c.151T>A (p.Cys51Ser) c.169T>A (p.Cys57Ser) | |
| 2 | g.127421387T>C | CA348397996 | PROC | c.175T>C (p.Cys59Arg) c.140T>C (p.Val47Ala) n.258T>C c.358T>C (p.Cys120Arg) c.238T>C (p.Cys80Arg) c.418T>C (p.Cys140Arg) c.259T>C (p.Cys87Arg) c.151T>C (p.Cys51Arg) c.169T>C (p.Cys57Arg) | |
| 2 | g.127421387T>G | CA348397998 | PROC | c.175T>G (p.Cys59Gly) c.140T>G (p.Val47Gly) n.258T>G c.358T>G (p.Cys120Gly) c.238T>G (p.Cys80Gly) c.418T>G (p.Cys140Gly) c.259T>G (p.Cys87Gly) c.151T>G (p.Cys51Gly) c.169T>G (p.Cys57Gly) | |
| 2 | g.127421388G>A | CA348398006 | PROC | c.176G>A (p.Cys59Tyr) c.141G>A (p.Val47=) n.259G>A c.359G>A (p.Cys120Tyr) c.239G>A (p.Cys80Tyr) c.419G>A (p.Cys140Tyr) c.260G>A (p.Cys87Tyr) c.152G>A (p.Cys51Tyr) c.170G>A (p.Cys57Tyr) | gnomAD v4 |
| 2 | g.127421388G>C | CA348398008 | PROC | c.176G>C (p.Cys59Ser) c.141G>C (p.Val47=) n.259G>C c.359G>C (p.Cys120Ser) c.239G>C (p.Cys80Ser) c.419G>C (p.Cys140Ser) c.260G>C (p.Cys87Ser) c.152G>C (p.Cys51Ser) c.170G>C (p.Cys57Ser) | |
| 2 | g.127421388G>T | CA348398010 | PROC | c.176G>T (p.Cys59Phe) c.141G>T (p.Val47=) n.259G>T c.359G>T (p.Cys120Phe) c.239G>T (p.Cys80Phe) c.419G>T (p.Cys140Phe) c.260G>T (p.Cys87Phe) c.152G>T (p.Cys51Phe) c.170G>T (p.Cys57Phe) | |
| 2 | g.127421389C>A | CA348398013 | PROC | c.177C>A (p.Cys59Ter) c.142C>A (p.His48Asn) n.260C>A c.360C>A (p.Cys120Ter) c.240C>A (p.Cys80Ter) c.420C>A (p.Cys140Ter) c.261C>A (p.Cys87Ter) c.153C>A (p.Cys51Ter) c.171C>A (p.Cys57Ter) | |
| 2 | g.127421389C= | CA1286880874 | PROC | c.177C= (p.Cys59=) c.142C= (p.His48=) n.260C= c.360C= (p.Cys120=) c.240C= (p.Cys80=) c.420C= (p.Cys140=) c.261C= (p.Cys87=) c.153C= (p.Cys51=) c.171C= (p.Cys57=) | |
| 2 | g.127421389C>G | CA348398016 | PROC | c.177C>G (p.Cys59Trp) c.142C>G (p.His48Asp) n.260C>G c.360C>G (p.Cys120Trp) c.240C>G (p.Cys80Trp) c.420C>G (p.Cys140Trp) c.261C>G (p.Cys87Trp) c.153C>G (p.Cys51Trp) c.171C>G (p.Cys57Trp) | |
| 2 | g.127421389C>T | CA428617442 | PROC | c.177C>T (p.Cys59=) c.142C>T (p.His48Tyr) n.260C>T c.360C>T (p.Cys120=) c.240C>T (p.Cys80=) c.420C>T (p.Cys140=) c.261C>T (p.Cys87=) c.153C>T (p.Cys51=) c.171C>T (p.Cys57=) | dbSNP |
| 2 | g.127421390A= | CA1286880876 | PROC | c.178A= (p.Ile60=) c.143A= (p.His48=) n.261A= c.361A= (p.Ile121=) c.241A= (p.Ile81=) c.421A= (p.Ile141=) c.262A= (p.Ile88=) c.154A= (p.Ile52=) c.172A= (p.Ile58=) | |
| 2 | g.127421390A>C | CA348398019 | PROC | c.178A>C (p.Ile60Leu) c.143A>C (p.His48Pro) n.261A>C c.361A>C (p.Ile121Leu) c.241A>C (p.Ile81Leu) c.421A>C (p.Ile141Leu) c.262A>C (p.Ile88Leu) c.154A>C (p.Ile52Leu) c.172A>C (p.Ile58Leu) | |
| 2 | g.127421390A>G | CA348398024 | PROC | c.178A>G (p.Ile60Val) c.143A>G (p.His48Arg) n.261A>G c.361A>G (p.Ile121Val) c.241A>G (p.Ile81Val) c.421A>G (p.Ile141Val) c.262A>G (p.Ile88Val) c.154A>G (p.Ile52Val) c.172A>G (p.Ile58Val) | dbSNP gnomAD v2 |
| 2 | g.127421390A>T | CA348398022 | PROC | c.178A>T (p.Ile60Leu) c.143A>T (p.His48Leu) n.261A>T c.361A>T (p.Ile121Leu) c.241A>T (p.Ile81Leu) c.421A>T (p.Ile141Leu) c.262A>T (p.Ile88Leu) c.154A>T (p.Ile52Leu) c.172A>T (p.Ile58Leu) | |
| 2 | g.127421391T>A | CA348398027 | PROC | c.179T>A (p.Ile60Lys) c.144T>A (p.His48Gln) n.262T>A c.362T>A (p.Ile121Lys) c.242T>A (p.Ile81Lys) c.422T>A (p.Ile141Lys) c.263T>A (p.Ile88Lys) c.155T>A (p.Ile52Lys) c.173T>A (p.Ile58Lys) | |
| 2 | g.127421391T>C | CA1859251 | PROC | c.179T>C (p.Ile60Thr) c.144T>C (p.His48=) n.262T>C c.362T>C (p.Ile121Thr) c.242T>C (p.Ile81Thr) c.422T>C (p.Ile141Thr) c.263T>C (p.Ile88Thr) c.155T>C (p.Ile52Thr) c.173T>C (p.Ile58Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.127421391T>G | CA348398030 | PROC | c.179T>G (p.Ile60Arg) c.144T>G (p.His48Gln) n.262T>G c.362T>G (p.Ile121Arg) c.242T>G (p.Ile81Arg) c.422T>G (p.Ile141Arg) c.263T>G (p.Ile88Arg) c.155T>G (p.Ile52Arg) c.173T>G (p.Ile58Arg) | |
| 2 | g.127421391T= | CA1286880879 | PROC | c.179T= (p.Ile60=) c.144T= (p.His48=) n.262T= c.362T= (p.Ile121=) c.242T= (p.Ile81=) c.422T= (p.Ile141=) c.263T= (p.Ile88=) c.155T= (p.Ile52=) c.173T= (p.Ile58=) | |
| 2 | g.127421392A>C | CA428617444 | PROC | c.180A>C (p.Ile60=) c.145A>C (p.Arg49=) n.263A>C c.363A>C (p.Ile121=) c.243A>C (p.Ile81=) c.423A>C (p.Ile141=) c.264A>C (p.Ile88=) c.156A>C (p.Ile52=) c.174A>C (p.Ile58=) | |
| 2 | g.127421392A>G | CA348398032 | PROC | c.180A>G (p.Ile60Met) c.145A>G (p.Arg49Gly) n.263A>G c.363A>G (p.Ile121Met) c.243A>G (p.Ile81Met) c.423A>G (p.Ile141Met) c.264A>G (p.Ile88Met) c.156A>G (p.Ile52Met) c.174A>G (p.Ile58Met) | |
| 2 | g.127421392A>T | CA428617443 | PROC | c.180A>T (p.Ile60=) c.145A>T (p.Arg49Ter) n.263A>T c.363A>T (p.Ile121=) c.243A>T (p.Ile81=) c.423A>T (p.Ile141=) c.264A>T (p.Ile88=) c.156A>T (p.Ile52=) c.174A>T (p.Ile58=) | |
| 2 | g.127421392_127421395delinsAGAG | CA1286880881 | PROC | c.180_183delinsAGAG (p.Ile60=) c.145_148delinsAGAG (p.Arg49=) n.263_266delinsAGAG c.363_366delinsAGAG (p.Ile121=) c.243_246delinsAGAG (p.Ile81=) c.423_426delinsAGAG (p.Ile141=) c.264_267delinsAGAG (p.Ile88=) c.156_159delinsAGAG (p.Ile52=) c.174_177delinsAGAG (p.Ile58=) | |
| 2 | g.127421393del | CA2586969845 | PROC | c.181del (p.Glu61ArgfsTer?) c.146del (p.Arg49LysfsTer?) n.264del c.364del (p.Glu122ArgfsTer?) c.244del (p.Glu82ArgfsTer?) c.424del (p.Glu142ArgfsTer?) c.265del (p.Glu89ArgfsTer?) c.157del (p.Glu53ArgfsTer?) c.175del (p.Glu59ArgfsTer?) | |
| 2 | g.127421393G>A | CA348398035 | PROC | c.181G>A (p.Glu61Lys) c.146G>A (p.Arg49Lys) n.264G>A c.364G>A (p.Glu122Lys) c.244G>A (p.Glu82Lys) c.424G>A (p.Glu142Lys) c.265G>A (p.Glu89Lys) c.157G>A (p.Glu53Lys) c.175G>A (p.Glu59Lys) | gnomAD v4 |
| 2 | g.127421393G>C | CA348398036 | PROC | c.181G>C (p.Glu61Gln) c.146G>C (p.Arg49Thr) n.264G>C c.364G>C (p.Glu122Gln) c.244G>C (p.Glu82Gln) c.424G>C (p.Glu142Gln) c.265G>C (p.Glu89Gln) c.157G>C (p.Glu53Gln) c.175G>C (p.Glu59Gln) | |
| 2 | g.127421393G>T | CA348398037 | PROC | c.181G>T (p.Glu61Ter) c.146G>T (p.Arg49Ile) n.264G>T c.364G>T (p.Glu122Ter) c.244G>T (p.Glu82Ter) c.424G>T (p.Glu142Ter) c.265G>T (p.Glu89Ter) c.157G>T (p.Glu53Ter) c.175G>T (p.Glu59Ter) | |
| 2 | g.127421396_127421398del | CA535638970 | PROC | c.184_186del (p.Glu62del) c.149_151del (p.Gly50del) n.267_269del c.367_369del (p.Glu123del) c.247_249del (p.Glu83del) c.427_429del (p.Glu143del) c.268_270del (p.Glu90del) c.160_162del (p.Glu54del) c.178_180del (p.Glu60del) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.127421394A>C | CA348398038 | PROC | c.182A>C (p.Glu61Ala) c.147A>C (p.Arg49Ser) n.265A>C c.365A>C (p.Glu122Ala) c.245A>C (p.Glu82Ala) c.425A>C (p.Glu142Ala) c.266A>C (p.Glu89Ala) c.158A>C (p.Glu53Ala) c.176A>C (p.Glu59Ala) | |
| 2 | g.127421394A>G | CA348398039 | PROC | c.182A>G (p.Glu61Gly) c.147A>G (p.Arg49=) n.265A>G c.365A>G (p.Glu122Gly) c.245A>G (p.Glu82Gly) c.425A>G (p.Glu142Gly) c.266A>G (p.Glu89Gly) c.158A>G (p.Glu53Gly) c.176A>G (p.Glu59Gly) | |
| 2 | g.127421394A>T | CA348398040 | PROC | c.182A>T (p.Glu61Val) c.147A>T (p.Arg49Ser) n.265A>T c.365A>T (p.Glu122Val) c.245A>T (p.Glu82Val) c.425A>T (p.Glu142Val) c.266A>T (p.Glu89Val) c.158A>T (p.Glu53Val) c.176A>T (p.Glu59Val) | |
| 2 | g.127421395G>A | CA428617445 | PROC | c.183G>A (p.Glu61=) c.148G>A (p.Gly50Arg) n.266G>A c.366G>A (p.Glu122=) c.246G>A (p.Glu82=) c.426G>A (p.Glu142=) c.267G>A (p.Glu89=) c.159G>A (p.Glu53=) c.177G>A (p.Glu59=) | |
| 2 | g.127421395G>C | CA348398042 | PROC | c.183G>C (p.Glu61Asp) c.148G>C (p.Gly50Arg) n.266G>C c.366G>C (p.Glu122Asp) c.246G>C (p.Glu82Asp) c.426G>C (p.Glu142Asp) c.267G>C (p.Glu89Asp) c.159G>C (p.Glu53Asp) c.177G>C (p.Glu59Asp) | |
| 2 | g.127421395G>T | CA348398045 | PROC | c.183G>T (p.Glu61Asp) c.148G>T (p.Gly50Ter) n.266G>T c.366G>T (p.Glu122Asp) c.246G>T (p.Glu82Asp) c.426G>T (p.Glu142Asp) c.267G>T (p.Glu89Asp) c.159G>T (p.Glu53Asp) c.177G>T (p.Glu59Asp) | |
| 2 | g.127421396G>A | CA348398048 | PROC | c.184G>A (p.Glu62Lys) c.149G>A (p.Gly50Glu) n.267G>A c.367G>A (p.Glu123Lys) c.247G>A (p.Glu83Lys) c.427G>A (p.Glu143Lys) c.268G>A (p.Glu90Lys) c.160G>A (p.Glu54Lys) c.178G>A (p.Glu60Lys) | |
| 2 | g.127421396G>C | CA348398049 | PROC | c.184G>C (p.Glu62Gln) c.149G>C (p.Gly50Ala) n.267G>C c.367G>C (p.Glu123Gln) c.247G>C (p.Glu83Gln) c.427G>C (p.Glu143Gln) c.268G>C (p.Glu90Gln) c.160G>C (p.Glu54Gln) c.178G>C (p.Glu60Gln) | |
| 2 | g.127421396G>T | CA348398047 | PROC | c.184G>T (p.Glu62Ter) c.149G>T (p.Gly50Val) n.267G>T c.367G>T (p.Glu123Ter) c.247G>T (p.Glu83Ter) c.427G>T (p.Glu143Ter) c.268G>T (p.Glu90Ter) c.160G>T (p.Glu54Ter) c.178G>T (p.Glu60Ter) | |
| 2 | g.127421397A= | CA1286880887 | PROC | c.185A= (p.Glu62=) c.150A= (p.Gly50=) n.268A= c.368A= (p.Glu123=) c.248A= (p.Glu83=) c.428A= (p.Glu143=) c.269A= (p.Glu90=) c.161A= (p.Glu54=) c.179A= (p.Glu60=) | |
| 2 | g.127421397A>C | CA114402 | PROC | c.185A>C (p.Glu62Ala) c.150A>C (p.Gly50=) n.268A>C c.368A>C (p.Glu123Ala) c.248A>C (p.Glu83Ala) c.428A>C (p.Glu143Ala) c.269A>C (p.Glu90Ala) c.161A>C (p.Glu54Ala) c.179A>C (p.Glu60Ala) | ClinVar dbSNP |
| 2 | g.127421397A>G | CA348398051 | PROC | c.185A>G (p.Glu62Gly) c.150A>G (p.Gly50=) n.268A>G c.368A>G (p.Glu123Gly) c.248A>G (p.Glu83Gly) c.428A>G (p.Glu143Gly) c.269A>G (p.Glu90Gly) c.161A>G (p.Glu54Gly) c.179A>G (p.Glu60Gly) | |
| 2 | g.127421397A>T | CA348398053 | PROC | c.185A>T (p.Glu62Val) c.150A>T (p.Gly50=) n.268A>T c.368A>T (p.Glu123Val) c.248A>T (p.Glu83Val) c.428A>T (p.Glu143Val) c.269A>T (p.Glu90Val) c.161A>T (p.Glu54Val) c.179A>T (p.Glu60Val) | |
| 2 | g.127421398G>A | CA428617446 | PROC | c.186G>A (p.Glu62=) c.151G>A (p.Asp51Asn) n.269G>A c.369G>A (p.Glu123=) c.249G>A (p.Glu83=) c.429G>A (p.Glu143=) c.270G>A (p.Glu90=) c.162G>A (p.Glu54=) c.180G>A (p.Glu60=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.127421398G>C | CA348398059 | PROC | c.186G>C (p.Glu62Asp) c.151G>C (p.Asp51His) n.269G>C c.369G>C (p.Glu123Asp) c.249G>C (p.Glu83Asp) c.429G>C (p.Glu143Asp) c.270G>C (p.Glu90Asp) c.162G>C (p.Glu54Asp) c.180G>C (p.Glu60Asp) | |
| 2 | g.127421398G= | CA1286880890 | PROC | c.186G= (p.Glu62=) c.151G= (p.Asp51=) n.269G= c.369G= (p.Glu123=) c.249G= (p.Glu83=) c.429G= (p.Glu143=) c.270G= (p.Glu90=) c.162G= (p.Glu54=) c.180G= (p.Glu60=) | |
| 2 | g.127421398G>T | CA348398061 | PROC | c.186G>T (p.Glu62Asp) c.151G>T (p.Asp51Tyr) n.269G>T c.369G>T (p.Glu123Asp) c.249G>T (p.Glu83Asp) c.429G>T (p.Glu143Asp) c.270G>T (p.Glu90Asp) c.162G>T (p.Glu54Asp) c.180G>T (p.Glu60Asp) | |
| 2 | g.127421399A= | CA1286880893 | PROC | c.187A= (p.Ile63=) c.152A= (p.Asp51=) n.270A= c.370A= (p.Ile124=) c.250A= (p.Ile84=) c.430A= (p.Ile144=) c.271A= (p.Ile91=) c.163A= (p.Ile55=) c.181A= (p.Ile61=) | |
| 2 | g.127421399A>C | CA348398067 | PROC | c.187A>C (p.Ile63Leu) c.152A>C (p.Asp51Ala) n.270A>C c.370A>C (p.Ile124Leu) c.250A>C (p.Ile84Leu) c.430A>C (p.Ile144Leu) c.271A>C (p.Ile91Leu) c.163A>C (p.Ile55Leu) c.181A>C (p.Ile61Leu) | |
| 2 | g.127421399A>G | CA348398070 | PROC | c.187A>G (p.Ile63Val) c.152A>G (p.Asp51Gly) n.270A>G c.370A>G (p.Ile124Val) c.250A>G (p.Ile84Val) c.430A>G (p.Ile144Val) c.271A>G (p.Ile91Val) c.163A>G (p.Ile55Val) c.181A>G (p.Ile61Val) | |
| 2 | g.127421399A>T | CA348398071 | PROC | c.187A>T (p.Ile63Phe) c.152A>T (p.Asp51Val) n.270A>T c.370A>T (p.Ile124Phe) c.250A>T (p.Ile84Phe) c.430A>T (p.Ile144Phe) c.271A>T (p.Ile91Phe) c.163A>T (p.Ile55Phe) c.181A>T (p.Ile61Phe) | dbSNP gnomAD v4 |
| 2 | g.127421400T>A | CA348398072 | PROC | c.188T>A (p.Ile63Asn) c.153T>A (p.Asp51Glu) n.271T>A c.371T>A (p.Ile124Asn) c.251T>A (p.Ile84Asn) c.431T>A (p.Ile144Asn) c.272T>A (p.Ile91Asn) c.164T>A (p.Ile55Asn) c.182T>A (p.Ile61Asn) | dbSNP gnomAD v4 |
| 2 | g.127421400T>C | CA348398073 | PROC | c.188T>C (p.Ile63Thr) c.153T>C (p.Asp51=) n.271T>C c.371T>C (p.Ile124Thr) c.251T>C (p.Ile84Thr) c.431T>C (p.Ile144Thr) c.272T>C (p.Ile91Thr) c.164T>C (p.Ile55Thr) c.182T>C (p.Ile61Thr) | dbSNP gnomAD v4 |
| 2 | g.127421400T>G | CA348398074 | PROC | c.188T>G (p.Ile63Ser) c.153T>G (p.Asp51Glu) n.271T>G c.371T>G (p.Ile124Ser) c.251T>G (p.Ile84Ser) c.431T>G (p.Ile144Ser) c.272T>G (p.Ile91Ser) c.164T>G (p.Ile55Ser) c.182T>G (p.Ile61Ser) | |
| 2 | g.127421400T= | CA1286880898 | PROC | c.188T= (p.Ile63=) c.153T= (p.Asp51=) n.271T= c.371T= (p.Ile124=) c.251T= (p.Ile84=) c.431T= (p.Ile144=) c.272T= (p.Ile91=) c.164T= (p.Ile55=) c.182T= (p.Ile61=) | |
| 2 | g.127421401C>A | CA428617448 | PROC | c.189C>A (p.Ile63=) c.154C>A (p.Leu52Met) n.272C>A c.372C>A (p.Ile124=) c.252C>A (p.Ile84=) c.432C>A (p.Ile144=) c.273C>A (p.Ile91=) c.165C>A (p.Ile55=) c.183C>A (p.Ile61=) | |
| 2 | g.127421401C>G | CA348398077 | PROC | c.189C>G (p.Ile63Met) c.154C>G (p.Leu52Val) n.272C>G c.372C>G (p.Ile124Met) c.252C>G (p.Ile84Met) c.432C>G (p.Ile144Met) c.273C>G (p.Ile91Met) c.165C>G (p.Ile55Met) c.183C>G (p.Ile61Met) | |
| 2 | g.127421401C>T | CA428617447 | PROC | c.189C>T (p.Ile63=) c.154C>T (p.Leu52=) n.272C>T c.372C>T (p.Ile124=) c.252C>T (p.Ile84=) c.432C>T (p.Ile144=) c.273C>T (p.Ile91=) c.165C>T (p.Ile55=) c.183C>T (p.Ile61=) | |
| 2 | g.127421402T>A | CA348398083 | PROC | c.190T>A (p.Cys64Ser) c.155T>A (p.Leu52Gln) n.273T>A c.373T>A (p.Cys125Ser) c.253T>A (p.Cys85Ser) c.433T>A (p.Cys145Ser) c.274T>A (p.Cys92Ser) c.166T>A (p.Cys56Ser) c.184T>A (p.Cys62Ser) | |
| 2 | g.127421402T>C | CA348398081 | PROC | c.190T>C (p.Cys64Arg) c.155T>C (p.Leu52Pro) n.273T>C c.373T>C (p.Cys125Arg) c.253T>C (p.Cys85Arg) c.433T>C (p.Cys145Arg) c.274T>C (p.Cys92Arg) c.166T>C (p.Cys56Arg) c.184T>C (p.Cys62Arg) | |
| 2 | g.127421402T>G | CA348398079 | PROC | c.190T>G (p.Cys64Gly) c.155T>G (p.Leu52Arg) n.273T>G c.373T>G (p.Cys125Gly) c.253T>G (p.Cys85Gly) c.433T>G (p.Cys145Gly) c.274T>G (p.Cys92Gly) c.166T>G (p.Cys56Gly) c.184T>G (p.Cys62Gly) | |
| 2 | g.127421403G>A | CA348398086 | PROC | c.191G>A (p.Cys64Tyr) c.156G>A (p.Leu52=) n.274G>A c.374G>A (p.Cys125Tyr) c.254G>A (p.Cys85Tyr) c.434G>A (p.Cys145Tyr) c.275G>A (p.Cys92Tyr) c.167G>A (p.Cys56Tyr) c.185G>A (p.Cys62Tyr) | |
| 2 | g.127421403G>C | CA348398089 | PROC | c.191G>C (p.Cys64Ser) c.156G>C (p.Leu52=) n.274G>C c.374G>C (p.Cys125Ser) c.254G>C (p.Cys85Ser) c.434G>C (p.Cys145Ser) c.275G>C (p.Cys92Ser) c.167G>C (p.Cys56Ser) c.185G>C (p.Cys62Ser) | |
| 2 | g.127421403G>T | CA348398091 | PROC | c.191G>T (p.Cys64Phe) c.156G>T (p.Leu52=) n.274G>T c.374G>T (p.Cys125Phe) c.254G>T (p.Cys85Phe) c.434G>T (p.Cys145Phe) c.275G>T (p.Cys92Phe) c.167G>T (p.Cys56Phe) c.185G>T (p.Cys62Phe) | |
| 2 | g.127421404T>A | CA348398093 | PROC | c.192T>A (p.Cys64Ter) c.157T>A (p.Ter53Arg) n.275T>A c.375T>A (p.Cys125Ter) c.255T>A (p.Cys85Ter) c.435T>A (p.Cys145Ter) c.276T>A (p.Cys92Ter) c.168T>A (p.Cys56Ter) c.186T>A (p.Cys62Ter) | |
| 2 | g.127421404T>C | CA428617449 | PROC | c.192T>C (p.Cys64=) c.157T>C (p.Ter53Arg) n.275T>C c.375T>C (p.Cys125=) c.255T>C (p.Cys85=) c.435T>C (p.Cys145=) c.276T>C (p.Cys92=) c.168T>C (p.Cys56=) c.186T>C (p.Cys62=) | |
| 2 | g.127421404T>G | CA348398096 | PROC | c.192T>G (p.Cys64Trp) c.157T>G (p.Ter53Gly) n.275T>G c.375T>G (p.Cys125Trp) c.255T>G (p.Cys85Trp) c.435T>G (p.Cys145Trp) c.276T>G (p.Cys92Trp) c.168T>G (p.Cys56Trp) c.186T>G (p.Cys62Trp) | |
| 2 | g.127421405G>A | CA348398099 | PROC | c.193G>A (p.Asp65Asn) c.158G>A (p.Ter53=) n.276G>A c.376G>A (p.Asp126Asn) c.256G>A (p.Asp86Asn) c.436G>A (p.Asp146Asn) c.277G>A (p.Asp93Asn) c.169G>A (p.Asp57Asn) c.187G>A (p.Asp63Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.127421405G>C | CA348398100 | PROC | c.193G>C (p.Asp65His) c.158G>C (p.Ter53Ser) n.276G>C c.376G>C (p.Asp126His) c.256G>C (p.Asp86His) c.436G>C (p.Asp146His) c.277G>C (p.Asp93His) c.169G>C (p.Asp57His) c.187G>C (p.Asp63His) | |
| 2 | g.127421405G= | CA1286880902 | PROC | c.193G= (p.Asp65=) c.158G= (p.Ter53=) n.276G= c.376G= (p.Asp126=) c.256G= (p.Asp86=) c.436G= (p.Asp146=) c.277G= (p.Asp93=) c.169G= (p.Asp57=) c.187G= (p.Asp63=) | |
| 2 | g.127421405G>T | CA348398103 | PROC | c.193G>T (p.Asp65Tyr) c.158G>T (p.Ter53Leu) n.276G>T c.376G>T (p.Asp126Tyr) c.256G>T (p.Asp86Tyr) c.436G>T (p.Asp146Tyr) c.277G>T (p.Asp93Tyr) c.169G>T (p.Asp57Tyr) c.187G>T (p.Asp63Tyr) | |
| 2 | g.127421406A>C | CA348398105 | PROC | c.194A>C (p.Asp65Ala) c.159A>C (p.Ter53Cys) n.277A>C c.377A>C (p.Asp126Ala) c.257A>C (p.Asp86Ala) c.437A>C (p.Asp146Ala) c.278A>C (p.Asp93Ala) c.170A>C (p.Asp57Ala) c.188A>C (p.Asp63Ala) | |
| 2 | g.127421406A>G | CA348398108 | PROC | c.194A>G (p.Asp65Gly) c.159A>G (p.Ter53Trp) n.277A>G c.377A>G (p.Asp126Gly) c.257A>G (p.Asp86Gly) c.437A>G (p.Asp146Gly) c.278A>G (p.Asp93Gly) c.170A>G (p.Asp57Gly) c.188A>G (p.Asp63Gly) | |
| 2 | g.127421406A>T | CA348398110 | PROC | c.194A>T (p.Asp65Val) c.159A>T (p.Ter53Cys) n.277A>T c.377A>T (p.Asp126Val) c.257A>T (p.Asp86Val) c.437A>T (p.Asp146Val) c.278A>T (p.Asp93Val) c.170A>T (p.Asp57Val) c.188A>T (p.Asp63Val) | |
| 2 | g.127421407C>A | CA348398111 | PROC | c.195C>A (p.Asp65Glu) c.*1C>A (n.*1C>A) n.278C>A c.378C>A (p.Asp126Glu) c.258C>A (p.Asp86Glu) c.438C>A (p.Asp146Glu) c.279C>A (p.Asp93Glu) c.171C>A (p.Asp57Glu) c.189C>A (p.Asp63Glu) | |
| 2 | g.127421407C= | CA1286880907 | PROC | c.195C= (p.Asp65=) c.*1C= (n.*1C=) n.278C= c.378C= (p.Asp126=) c.258C= (p.Asp86=) c.438C= (p.Asp146=) c.279C= (p.Asp93=) c.171C= (p.Asp57=) c.189C= (p.Asp63=) | |
| 2 | g.127421407C>G | CA348398112 | PROC | c.195C>G (p.Asp65Glu) c.*1C>G (n.*1C>G) n.278C>G c.378C>G (p.Asp126Glu) c.258C>G (p.Asp86Glu) c.438C>G (p.Asp146Glu) c.279C>G (p.Asp93Glu) c.171C>G (p.Asp57Glu) c.189C>G (p.Asp63Glu) | |
| 2 | g.127421407C>T | CA55343019 | PROC | c.195C>T (p.Asp65=) c.*1C>T (n.*1C>T) n.278C>T c.378C>T (p.Asp126=) c.258C>T (p.Asp86=) c.438C>T (p.Asp146=) c.279C>T (p.Asp93=) c.171C>T (p.Asp57=) c.189C>T (p.Asp63=) | dbSNP gnomAD v4 |
| 2 | g.127421408T>A | CA348398114 | PROC | c.196T>A (p.Phe66Ile) c.*2T>A (n.*2T>A) n.279T>A c.379T>A (p.Phe127Ile) c.259T>A (p.Phe87Ile) c.439T>A (p.Phe147Ile) c.280T>A (p.Phe94Ile) c.172T>A (p.Phe58Ile) c.190T>A (p.Phe64Ile) | |
| 2 | g.127421408T>C | CA348398115 | PROC | c.196T>C (p.Phe66Leu) c.*2T>C (n.*2T>C) n.279T>C c.379T>C (p.Phe127Leu) c.259T>C (p.Phe87Leu) c.439T>C (p.Phe147Leu) c.280T>C (p.Phe94Leu) c.172T>C (p.Phe58Leu) c.190T>C (p.Phe64Leu) | |
| 2 | g.127421408T>G | CA348398113 | PROC | c.196T>G (p.Phe66Val) c.*2T>G (n.*2T>G) n.279T>G c.379T>G (p.Phe127Val) c.259T>G (p.Phe87Val) c.439T>G (p.Phe147Val) c.280T>G (p.Phe94Val) c.172T>G (p.Phe58Val) c.190T>G (p.Phe64Val) | |
| 2 | g.127421409T>A | CA348398116 | PROC | c.197T>A (p.Phe66Tyr) c.*3T>A (n.*3T>A) n.280T>A c.380T>A (p.Phe127Tyr) c.260T>A (p.Phe87Tyr) c.440T>A (p.Phe147Tyr) c.281T>A (p.Phe94Tyr) c.173T>A (p.Phe58Tyr) c.191T>A (p.Phe64Tyr) | |
| 2 | g.127421409T>C | CA348398117 | PROC | c.197T>C (p.Phe66Ser) c.*3T>C (n.*3T>C) n.280T>C c.380T>C (p.Phe127Ser) c.260T>C (p.Phe87Ser) c.440T>C (p.Phe147Ser) c.281T>C (p.Phe94Ser) c.173T>C (p.Phe58Ser) c.191T>C (p.Phe64Ser) | |
| 2 | g.127421409T>G | CA348398118 | PROC | c.197T>G (p.Phe66Cys) c.*3T>G (n.*3T>G) n.280T>G c.380T>G (p.Phe127Cys) c.260T>G (p.Phe87Cys) c.440T>G (p.Phe147Cys) c.281T>G (p.Phe94Cys) c.173T>G (p.Phe58Cys) c.191T>G (p.Phe64Cys) | |
| 2 | g.127421410C>A | CA348398119 | PROC | c.198C>A (p.Phe66Leu) c.*4C>A (n.*4C>A) n.281C>A c.381C>A (p.Phe127Leu) c.261C>A (p.Phe87Leu) c.441C>A (p.Phe147Leu) c.282C>A (p.Phe94Leu) c.174C>A (p.Phe58Leu) c.192C>A (p.Phe64Leu) | |
| 2 | g.127421410C= | CA1286880911 | PROC | c.198C= (p.Phe66=) c.*4C= (n.*4C=) n.281C= c.381C= (p.Phe127=) c.261C= (p.Phe87=) c.441C= (p.Phe147=) c.282C= (p.Phe94=) c.174C= (p.Phe58=) c.192C= (p.Phe64=) | |
| 2 | g.127421410C>G | CA1859253 | PROC | c.198C>G (p.Phe66Leu) c.*4C>G (n.*4C>G) n.281C>G c.381C>G (p.Phe127Leu) c.261C>G (p.Phe87Leu) c.441C>G (p.Phe147Leu) c.282C>G (p.Phe94Leu) c.174C>G (p.Phe58Leu) c.192C>G (p.Phe64Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.127421410C>T | CA1859252 | PROC | c.198C>T (p.Phe66=) c.*4C>T (n.*4C>T) n.281C>T c.381C>T (p.Phe127=) c.261C>T (p.Phe87=) c.441C>T (p.Phe147=) c.282C>T (p.Phe94=) c.174C>T (p.Phe58=) c.192C>T (p.Phe64=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.127421411G>A | CA348398122 | PROC | c.199G>A (p.Glu67Lys) c.*5G>A (n.*5G>A) n.282G>A c.382G>A (p.Glu128Lys) c.262G>A (p.Glu88Lys) c.442G>A (p.Glu148Lys) c.283G>A (p.Glu95Lys) c.175G>A (p.Glu59Lys) c.193G>A (p.Glu65Lys) | ClinVar dbSNP gnomAD v4 |
| 2 | g.127421411G>C | CA348398120 | PROC | c.199G>C (p.Glu67Gln) c.*5G>C (n.*5G>C) n.282G>C c.382G>C (p.Glu128Gln) c.262G>C (p.Glu88Gln) c.442G>C (p.Glu148Gln) c.283G>C (p.Glu95Gln) c.175G>C (p.Glu59Gln) c.193G>C (p.Glu65Gln) | |
| 2 | g.127421411G= | CA1286880914 | PROC | c.199G= (p.Glu67=) c.*5G= (n.*5G=) n.282G= c.382G= (p.Glu128=) c.262G= (p.Glu88=) c.442G= (p.Glu148=) c.283G= (p.Glu95=) c.175G= (p.Glu59=) c.193G= (p.Glu65=) | |
| 2 | g.127421411G>T | CA348398121 | PROC | c.199G>T (p.Glu67Ter) c.*5G>T (n.*5G>T) n.282G>T c.382G>T (p.Glu128Ter) c.262G>T (p.Glu88Ter) c.442G>T (p.Glu148Ter) c.283G>T (p.Glu95Ter) c.175G>T (p.Glu59Ter) c.193G>T (p.Glu65Ter) | dbSNP |
| 2 | g.127421412A>C | CA348398123 | PROC | c.200A>C (p.Glu67Ala) c.*6A>C (n.*6A>C) n.283A>C c.383A>C (p.Glu128Ala) c.263A>C (p.Glu88Ala) c.443A>C (p.Glu148Ala) c.284A>C (p.Glu95Ala) c.176A>C (p.Glu59Ala) c.194A>C (p.Glu65Ala) | |
| 2 | g.127421412A>G | CA348398124 | PROC | c.200A>G (p.Glu67Gly) c.*6A>G (n.*6A>G) n.283A>G c.383A>G (p.Glu128Gly) c.263A>G (p.Glu88Gly) c.443A>G (p.Glu148Gly) c.284A>G (p.Glu95Gly) c.176A>G (p.Glu59Gly) c.194A>G (p.Glu65Gly) | |
| 2 | g.127421412A>T | CA348398125 | PROC | c.200A>T (p.Glu67Val) c.*6A>T (n.*6A>T) n.283A>T c.383A>T (p.Glu128Val) c.263A>T (p.Glu88Val) c.443A>T (p.Glu148Val) c.284A>T (p.Glu95Val) c.176A>T (p.Glu59Val) c.194A>T (p.Glu65Val) | |
| 2 | g.127421413G>A | CA428617450 | PROC | c.201G>A (p.Glu67=) c.*7G>A (n.*7G>A) n.284G>A c.384G>A (p.Glu128=) c.264G>A (p.Glu88=) c.444G>A (p.Glu148=) c.285G>A (p.Glu95=) c.177G>A (p.Glu59=) c.195G>A (p.Glu65=) | |
| 2 | g.127421413G>C | CA348398126 | PROC | c.201G>C (p.Glu67Asp) c.*7G>C (n.*7G>C) n.284G>C c.384G>C (p.Glu128Asp) c.264G>C (p.Glu88Asp) c.444G>C (p.Glu148Asp) c.285G>C (p.Glu95Asp) c.177G>C (p.Glu59Asp) c.195G>C (p.Glu65Asp) | COSMIC |
| 2 | g.127421413G>T | CA348398127 | PROC | c.201G>T (p.Glu67Asp) c.*7G>T (n.*7G>T) n.284G>T c.384G>T (p.Glu128Asp) c.264G>T (p.Glu88Asp) c.444G>T (p.Glu148Asp) c.285G>T (p.Glu95Asp) c.177G>T (p.Glu59Asp) c.195G>T (p.Glu65Asp) | |
| 2 | g.127421414G>A | CA348398128 | PROC | c.202G>A (p.Glu68Lys) c.*8G>A (n.*8G>A) n.285G>A c.385G>A (p.Glu129Lys) c.265G>A (p.Glu89Lys) c.445G>A (p.Glu149Lys) c.286G>A (p.Glu96Lys) c.178G>A (p.Glu60Lys) c.196G>A (p.Glu66Lys) | dbSNP gnomAD v4 COSMIC |
| 2 | g.127421414G>C | CA348398130 | PROC | c.202G>C (p.Glu68Gln) c.*8G>C (n.*8G>C) n.285G>C c.385G>C (p.Glu129Gln) c.265G>C (p.Glu89Gln) c.445G>C (p.Glu149Gln) c.286G>C (p.Glu96Gln) c.178G>C (p.Glu60Gln) c.196G>C (p.Glu66Gln) | dbSNP |
| 2 | g.127421414G= | CA1286880921 | PROC | c.202G= (p.Glu68=) c.*8G= (n.*8G=) n.285G= c.385G= (p.Glu129=) c.265G= (p.Glu89=) c.445G= (p.Glu149=) c.286G= (p.Glu96=) c.178G= (p.Glu60=) c.196G= (p.Glu66=) | |
| 2 | g.127421414G>T | CA348398129 | PROC | c.202G>T (p.Glu68Ter) c.*8G>T (n.*8G>T) n.285G>T c.385G>T (p.Glu129Ter) c.265G>T (p.Glu89Ter) c.445G>T (p.Glu149Ter) c.286G>T (p.Glu96Ter) c.178G>T (p.Glu60Ter) c.196G>T (p.Glu66Ter) | |
| 2 | g.127421415A>C | CA348398131 | PROC | c.203A>C (p.Glu68Ala) c.*9A>C (n.*9A>C) n.286A>C c.386A>C (p.Glu129Ala) c.266A>C (p.Glu89Ala) c.446A>C (p.Glu149Ala) c.287A>C (p.Glu96Ala) c.179A>C (p.Glu60Ala) c.197A>C (p.Glu66Ala) | gnomAD v4 |
| 2 | g.127421415A>G | CA348398132 | PROC | c.203A>G (p.Glu68Gly) c.*9A>G (n.*9A>G) n.286A>G c.386A>G (p.Glu129Gly) c.266A>G (p.Glu89Gly) c.446A>G (p.Glu149Gly) c.287A>G (p.Glu96Gly) c.179A>G (p.Glu60Gly) c.197A>G (p.Glu66Gly) | |
| 2 | g.127421415A>T | CA348398133 | PROC | c.203A>T (p.Glu68Val) c.*9A>T (n.*9A>T) n.286A>T c.386A>T (p.Glu129Val) c.266A>T (p.Glu89Val) c.446A>T (p.Glu149Val) c.287A>T (p.Glu96Val) c.179A>T (p.Glu60Val) c.197A>T (p.Glu66Val) | |
| 2 | g.127421416G>A | CA1859254 | PROC | c.204G>A (p.Glu68=) c.*10G>A (n.*10G>A) n.287G>A c.387G>A (p.Glu129=) c.267G>A (p.Glu89=) c.447G>A (p.Glu149=) c.288G>A (p.Glu96=) c.180G>A (p.Glu60=) c.198G>A (p.Glu66=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.127421416G>C | CA348398134 | PROC | c.204G>C (p.Glu68Asp) c.*10G>C (n.*10G>C) n.287G>C c.387G>C (p.Glu129Asp) c.267G>C (p.Glu89Asp) c.447G>C (p.Glu149Asp) c.288G>C (p.Glu96Asp) c.180G>C (p.Glu60Asp) c.198G>C (p.Glu66Asp) | |
| 2 | g.127421416G= | CA1286880923 | PROC | c.204G= (p.Glu68=) c.*10G= (n.*10G=) n.287G= c.387G= (p.Glu129=) c.267G= (p.Glu89=) c.447G= (p.Glu149=) c.288G= (p.Glu96=) c.180G= (p.Glu60=) c.198G= (p.Glu66=) | |
| 2 | g.127421416G>T | CA348398135 | PROC | c.204G>T (p.Glu68Asp) c.*10G>T (n.*10G>T) n.287G>T c.387G>T (p.Glu129Asp) c.267G>T (p.Glu89Asp) c.447G>T (p.Glu149Asp) c.288G>T (p.Glu96Asp) c.180G>T (p.Glu60Asp) c.198G>T (p.Glu66Asp) | |
| 2 | g.127421417G>A | CA348398136 | PROC | c.205G>A (p.Ala69Thr) c.*11G>A (n.*11G>A) n.288G>A c.388G>A (p.Ala130Thr) c.268G>A (p.Ala90Thr) c.448G>A (p.Ala150Thr) c.289G>A (p.Ala97Thr) c.181G>A (p.Ala61Thr) c.199G>A (p.Ala67Thr) | ClinVar dbSNP |
| 2 | g.127421417G>C | CA348398137 | PROC | c.205G>C (p.Ala69Pro) c.*11G>C (n.*11G>C) n.288G>C c.388G>C (p.Ala130Pro) c.268G>C (p.Ala90Pro) c.448G>C (p.Ala150Pro) c.289G>C (p.Ala97Pro) c.181G>C (p.Ala61Pro) c.199G>C (p.Ala67Pro) | |
| 2 | g.127421417G>T | CA348398138 | PROC | c.205G>T (p.Ala69Ser) c.*11G>T (n.*11G>T) n.288G>T c.388G>T (p.Ala130Ser) c.268G>T (p.Ala90Ser) c.448G>T (p.Ala150Ser) c.289G>T (p.Ala97Ser) c.181G>T (p.Ala61Ser) c.199G>T (p.Ala67Ser) | |
| 2 | g.127421418C>A | CA348398139 | PROC | c.206C>A (p.Ala69Asp) c.*12C>A (n.*12C>A) n.289C>A c.389C>A (p.Ala130Asp) c.269C>A (p.Ala90Asp) c.449C>A (p.Ala150Asp) c.290C>A (p.Ala97Asp) c.182C>A (p.Ala61Asp) c.200C>A (p.Ala67Asp) | |
| 2 | g.127421418C= | CA1286880926 | PROC | c.206C= (p.Ala69=) c.*12C= (n.*12C=) n.289C= c.389C= (p.Ala130=) c.269C= (p.Ala90=) c.449C= (p.Ala150=) c.290C= (p.Ala97=) c.182C= (p.Ala61=) c.200C= (p.Ala67=) | |
| 2 | g.127421418C>G | CA348398140 | PROC | c.206C>G (p.Ala69Gly) c.*12C>G (n.*12C>G) n.289C>G c.389C>G (p.Ala130Gly) c.269C>G (p.Ala90Gly) c.449C>G (p.Ala150Gly) c.290C>G (p.Ala97Gly) c.182C>G (p.Ala61Gly) c.200C>G (p.Ala67Gly) | |
| 2 | g.127421418C>T | CA55343052 | PROC | c.206C>T (p.Ala69Val) c.*12C>T (n.*12C>T) n.289C>T c.389C>T (p.Ala130Val) c.269C>T (p.Ala90Val) c.449C>T (p.Ala150Val) c.290C>T (p.Ala97Val) c.182C>T (p.Ala61Val) c.200C>T (p.Ala67Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.127421419C>A | CA428617451 | PROC | c.207C>A (p.Ala69=) c.*13C>A (n.*13C>A) n.290C>A c.390C>A (p.Ala130=) c.270C>A (p.Ala90=) c.450C>A (p.Ala150=) c.291C>A (p.Ala97=) c.183C>A (p.Ala61=) c.201C>A (p.Ala67=) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.127421419C= | CA1286880932 | PROC | c.207C= (p.Ala69=) c.*13C= (n.*13C=) n.290C= c.390C= (p.Ala130=) c.270C= (p.Ala90=) c.450C= (p.Ala150=) c.291C= (p.Ala97=) c.183C= (p.Ala61=) c.201C= (p.Ala67=) | |
| 2 | g.127421419C>G | CA428617452 | PROC | c.207C>G (p.Ala69=) c.*13C>G (n.*13C>G) n.290C>G c.390C>G (p.Ala130=) c.270C>G (p.Ala90=) c.450C>G (p.Ala150=) c.291C>G (p.Ala97=) c.183C>G (p.Ala61=) c.201C>G (p.Ala67=) | |
| 2 | g.127421419C>T | CA428617453 | PROC | c.207C>T (p.Ala69=) c.*13C>T (n.*13C>T) n.290C>T c.390C>T (p.Ala130=) c.270C>T (p.Ala90=) c.450C>T (p.Ala150=) c.291C>T (p.Ala97=) c.183C>T (p.Ala61=) c.201C>T (p.Ala67=) | |
| 2 | g.127421420A= | CA1286880936 | PROC | c.208A= (p.Lys70=) c.*14A= (n.*14A=) n.291A= c.391A= (p.Lys131=) c.271A= (p.Lys91=) c.451A= (p.Lys151=) c.292A= (p.Lys98=) c.184A= (p.Lys62=) c.202A= (p.Lys68=) | |
| 2 | g.127421420A>C | CA348398142 | PROC | c.208A>C (p.Lys70Gln) c.*14A>C (n.*14A>C) n.291A>C c.391A>C (p.Lys131Gln) c.271A>C (p.Lys91Gln) c.451A>C (p.Lys151Gln) c.292A>C (p.Lys98Gln) c.184A>C (p.Lys62Gln) c.202A>C (p.Lys68Gln) | |
| 2 | g.127421420A>G | CA55343075 | PROC | c.208A>G (p.Lys70Glu) c.*14A>G (n.*14A>G) n.291A>G c.391A>G (p.Lys131Glu) c.271A>G (p.Lys91Glu) c.451A>G (p.Lys151Glu) c.292A>G (p.Lys98Glu) c.184A>G (p.Lys62Glu) c.202A>G (p.Lys68Glu) | ClinVar dbSNP |
| 2 | g.127421420A>T | CA348398141 | PROC | c.208A>T (p.Lys70Ter) c.*14A>T (n.*14A>T) n.291A>T c.391A>T (p.Lys131Ter) c.271A>T (p.Lys91Ter) c.451A>T (p.Lys151Ter) c.292A>T (p.Lys98Ter) c.184A>T (p.Lys62Ter) c.202A>T (p.Lys68Ter) | |
| 2 | g.127421421del | CA2586969846 | PROC | c.209del (p.Lys70ArgfsTer?) c.*15del (n.*15del) n.292del c.392del (p.Lys131ArgfsTer?) c.272del (p.Lys91ArgfsTer?) c.452del (p.Lys151ArgfsTer?) c.272del (p.Lys91ArgfsTer23) c.293del (p.Lys98ArgfsTer?) c.185del (p.Lys62ArgfsTer?) c.203del (p.Lys68ArgfsTer?) | |
| 2 | g.127421421A= | CA1286880939 | PROC | c.209A= (p.Lys70=) c.*15A= (n.*15A=) n.292A= c.392A= (p.Lys131=) c.272A= (p.Lys91=) c.452A= (p.Lys151=) c.293A= (p.Lys98=) c.185A= (p.Lys62=) c.203A= (p.Lys68=) | |
| 2 | g.127421421A>C | CA348398143 | PROC | c.209A>C (p.Lys70Thr) c.*15A>C (n.*15A>C) n.292A>C c.392A>C (p.Lys131Thr) c.272A>C (p.Lys91Thr) c.452A>C (p.Lys151Thr) c.293A>C (p.Lys98Thr) c.185A>C (p.Lys62Thr) c.203A>C (p.Lys68Thr) | |
| 2 | g.127421421A>G | CA1859255 | PROC | c.209A>G (p.Lys70Arg) c.*15A>G (n.*15A>G) n.292A>G c.392A>G (p.Lys131Arg) c.272A>G (p.Lys91Arg) c.452A>G (p.Lys151Arg) c.293A>G (p.Lys98Arg) c.185A>G (p.Lys62Arg) c.203A>G (p.Lys68Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.127421421A>T | CA55343086 | PROC | c.209A>T (p.Lys70Met) c.*15A>T (n.*15A>T) n.292A>T c.392A>T (p.Lys131Met) c.272A>T (p.Lys91Met) c.452A>T (p.Lys151Met) c.293A>T (p.Lys98Met) c.185A>T (p.Lys62Met) c.203A>T (p.Lys68Met) | dbSNP |
| 2 | g.127421422G>A | CA428617454 | PROC | c.210G>A (p.Lys70=) c.*16G>A (n.*16G>A) n.293G>A c.393G>A (p.Lys131=) c.273G>A (p.Lys91=) c.453G>A (p.Lys151=) c.294G>A (p.Lys98=) c.186G>A (p.Lys62=) c.204G>A (p.Lys68=) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.127421422G>C | CA348398144 | PROC | c.210G>C (p.Lys70Asn) c.*16G>C (n.*16G>C) n.293G>C c.393G>C (p.Lys131Asn) c.273G>C (p.Lys91Asn) c.453G>C (p.Lys151Asn) c.294G>C (p.Lys98Asn) c.186G>C (p.Lys62Asn) c.204G>C (p.Lys68Asn) | |
| 2 | g.127421422G= | CA1286880942 | PROC | c.210G= (p.Lys70=) c.*16G= (n.*16G=) n.293G= c.393G= (p.Lys131=) c.273G= (p.Lys91=) c.453G= (p.Lys151=) c.294G= (p.Lys98=) c.186G= (p.Lys62=) c.204G= (p.Lys68=) | |
| 2 | g.127421422G>T | CA348398145 | PROC | c.210G>T (p.Lys70Asn) c.*16G>T (n.*16G>T) n.293G>T c.393G>T (p.Lys131Asn) c.273G>T (p.Lys91Asn) c.453G>T (p.Lys151Asn) c.294G>T (p.Lys98Asn) c.186G>T (p.Lys62Asn) c.204G>T (p.Lys68Asn) | |
| 2 | g.127421423G>A | CA348398146 | PROC | c.211G>A (p.Glu71Lys) c.*17G>A (n.*17G>A) n.294G>A c.394G>A (p.Glu132Lys) c.274G>A (p.Glu92Lys) c.454G>A (p.Glu152Lys) c.295G>A (p.Glu99Lys) c.187G>A (p.Glu63Lys) c.205G>A (p.Glu69Lys) | COSMIC |
| 2 | g.127421423G>C | CA348398148 | PROC | c.211G>C (p.Glu71Gln) c.*17G>C (n.*17G>C) n.294G>C c.394G>C (p.Glu132Gln) c.274G>C (p.Glu92Gln) c.454G>C (p.Glu152Gln) c.295G>C (p.Glu99Gln) c.187G>C (p.Glu63Gln) c.205G>C (p.Glu69Gln) | |
| 2 | g.127421423G>T | CA348398147 | PROC | c.211G>T (p.Glu71Ter) c.*17G>T (n.*17G>T) n.294G>T c.394G>T (p.Glu132Ter) c.274G>T (p.Glu92Ter) c.454G>T (p.Glu152Ter) c.295G>T (p.Glu99Ter) c.187G>T (p.Glu63Ter) c.205G>T (p.Glu69Ter) | |
| 2 | g.127421424A>C | CA348398149 | PROC | c.212A>C (p.Glu71Ala) c.*18A>C (n.*18A>C) n.295A>C c.395A>C (p.Glu132Ala) c.275A>C (p.Glu92Ala) c.455A>C (p.Glu152Ala) c.296A>C (p.Glu99Ala) c.188A>C (p.Glu63Ala) c.206A>C (p.Glu69Ala) | |
| 2 | g.127421424A>G | CA348398150 | PROC | c.212A>G (p.Glu71Gly) c.*18A>G (n.*18A>G) n.295A>G c.395A>G (p.Glu132Gly) c.275A>G (p.Glu92Gly) c.455A>G (p.Glu152Gly) c.296A>G (p.Glu99Gly) c.188A>G (p.Glu63Gly) c.206A>G (p.Glu69Gly) | |
| 2 | g.127421424A>T | CA348398151 | PROC | c.212A>T (p.Glu71Val) c.*18A>T (n.*18A>T) n.295A>T c.395A>T (p.Glu132Val) c.275A>T (p.Glu92Val) c.455A>T (p.Glu152Val) c.296A>T (p.Glu99Val) c.188A>T (p.Glu63Val) c.206A>T (p.Glu69Val) | |
| 2 | g.127421425A= | CA1286880946 | PROC | c.213A= (p.Glu71=) c.*19A= (n.*19A=) n.296A= c.396A= (p.Glu132=) c.276A= (p.Glu92=) c.456A= (p.Glu152=) c.297A= (p.Glu99=) c.189A= (p.Glu63=) c.207A= (p.Glu69=) | |
| 2 | g.127421425A>C | CA348398152 | PROC | c.213A>C (p.Glu71Asp) c.*19A>C (n.*19A>C) n.296A>C c.396A>C (p.Glu132Asp) c.276A>C (p.Glu92Asp) c.456A>C (p.Glu152Asp) c.297A>C (p.Glu99Asp) c.189A>C (p.Glu63Asp) c.207A>C (p.Glu69Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.127421425A>G | CA428617455 | PROC | c.213A>G (p.Glu71=) c.*19A>G (n.*19A>G) n.296A>G c.396A>G (p.Glu132=) c.276A>G (p.Glu92=) c.456A>G (p.Glu152=) c.297A>G (p.Glu99=) c.189A>G (p.Glu63=) c.207A>G (p.Glu69=) | |
| 2 | g.127421425A>T | CA348398153 | PROC | c.213A>T (p.Glu71Asp) c.*19A>T (n.*19A>T) n.296A>T c.396A>T (p.Glu132Asp) c.276A>T (p.Glu92Asp) c.456A>T (p.Glu152Asp) c.297A>T (p.Glu99Asp) c.189A>T (p.Glu63Asp) c.207A>T (p.Glu69Asp) | |
| 2 | g.127421426A>C | CA348398154 | PROC | c.214A>C (p.Ile72Leu) c.*20A>C (n.*20A>C) n.297A>C c.397A>C (p.Ile133Leu) c.277A>C (p.Ile93Leu) c.457A>C (p.Ile153Leu) c.298A>C (p.Ile100Leu) c.190A>C (p.Ile64Leu) c.208A>C (p.Ile70Leu) | |
| 2 | g.127421426A>G | CA348398155 | PROC | c.214A>G (p.Ile72Val) c.*20A>G (n.*20A>G) n.297A>G c.397A>G (p.Ile133Val) c.277A>G (p.Ile93Val) c.457A>G (p.Ile153Val) c.298A>G (p.Ile100Val) c.190A>G (p.Ile64Val) c.208A>G (p.Ile70Val) | |
| 2 | g.127421426A>T | CA348398156 | PROC | c.214A>T (p.Ile72Phe) c.*20A>T (n.*20A>T) n.297A>T c.397A>T (p.Ile133Phe) c.277A>T (p.Ile93Phe) c.457A>T (p.Ile153Phe) c.298A>T (p.Ile100Phe) c.190A>T (p.Ile64Phe) c.208A>T (p.Ile70Phe) | |
| 2 | g.127421427T>A | CA348398157 | PROC | c.215T>A (p.Ile72Asn) c.*21T>A (n.*21T>A) n.298T>A c.398T>A (p.Ile133Asn) c.278T>A (p.Ile93Asn) c.458T>A (p.Ile153Asn) c.299T>A (p.Ile100Asn) c.191T>A (p.Ile64Asn) c.209T>A (p.Ile70Asn) | |
| 2 | g.127421427T>C | CA348398159 | PROC | c.215T>C (p.Ile72Thr) c.*21T>C (n.*21T>C) n.298T>C c.398T>C (p.Ile133Thr) c.278T>C (p.Ile93Thr) c.458T>C (p.Ile153Thr) c.299T>C (p.Ile100Thr) c.191T>C (p.Ile64Thr) c.209T>C (p.Ile70Thr) | gnomAD v4 |
| 2 | g.127421427T>G | CA348398158 | PROC | c.215T>G (p.Ile72Ser) c.*21T>G (n.*21T>G) n.298T>G c.398T>G (p.Ile133Ser) c.278T>G (p.Ile93Ser) c.458T>G (p.Ile153Ser) c.299T>G (p.Ile100Ser) c.191T>G (p.Ile64Ser) c.209T>G (p.Ile70Ser) | |
| 2 | g.127421428T>A | CA428617457 | PROC | c.216T>A (p.Ile72=) c.*22T>A (n.*22T>A) n.299T>A c.399T>A (p.Ile133=) c.279T>A (p.Ile93=) c.459T>A (p.Ile153=) c.300T>A (p.Ile100=) c.192T>A (p.Ile64=) c.210T>A (p.Ile70=) | |
| 2 | g.127421428T>C | CA428617458 | PROC | c.216T>C (p.Ile72=) c.*22T>C (n.*22T>C) n.299T>C c.399T>C (p.Ile133=) c.279T>C (p.Ile93=) c.459T>C (p.Ile153=) c.300T>C (p.Ile100=) c.192T>C (p.Ile64=) c.210T>C (p.Ile70=) | |
| 2 | g.127421428T>G | CA348398160 | PROC | c.216T>G (p.Ile72Met) c.*22T>G (n.*22T>G) n.299T>G c.399T>G (p.Ile133Met) c.279T>G (p.Ile93Met) c.459T>G (p.Ile153Met) c.300T>G (p.Ile100Met) c.192T>G (p.Ile64Met) c.210T>G (p.Ile70Met) | dbSNP |
| 2 | g.127421428T= | CA1286880950 | PROC | c.216T= (p.Ile72=) c.*22T= (n.*22T=) n.299T= c.399T= (p.Ile133=) c.279T= (p.Ile93=) c.459T= (p.Ile153=) c.300T= (p.Ile100=) c.192T= (p.Ile64=) c.210T= (p.Ile70=) | |
| 2 | g.127421429T>A | CA348398161 | PROC | c.217T>A (p.Phe73Ile) c.*23T>A (n.*23T>A) n.300T>A c.400T>A (p.Phe134Ile) c.280T>A (p.Phe94Ile) c.460T>A (p.Phe154Ile) c.301T>A (p.Phe101Ile) c.193T>A (p.Phe65Ile) c.211T>A (p.Phe71Ile) | |
| 2 | g.127421429T>C | CA348398162 | PROC | c.217T>C (p.Phe73Leu) c.*23T>C (n.*23T>C) n.300T>C c.400T>C (p.Phe134Leu) c.280T>C (p.Phe94Leu) c.460T>C (p.Phe154Leu) c.301T>C (p.Phe101Leu) c.193T>C (p.Phe65Leu) c.211T>C (p.Phe71Leu) | |
| 2 | g.127421429T>G | CA348398163 | PROC | c.217T>G (p.Phe73Val) c.*23T>G (n.*23T>G) n.300T>G c.400T>G (p.Phe134Val) c.280T>G (p.Phe94Val) c.460T>G (p.Phe154Val) c.301T>G (p.Phe101Val) c.193T>G (p.Phe65Val) c.211T>G (p.Phe71Val) | |
| 2 | g.127421430T>A | CA348398166 | PROC | c.218T>A (p.Phe73Tyr) c.*24T>A (n.*24T>A) n.301T>A c.401T>A (p.Phe134Tyr) c.281T>A (p.Phe94Tyr) c.461T>A (p.Phe154Tyr) c.302T>A (p.Phe101Tyr) c.194T>A (p.Phe65Tyr) c.212T>A (p.Phe71Tyr) | |
| 2 | g.127421430T>C | CA348398164 | PROC | c.218T>C (p.Phe73Ser) c.*24T>C (n.*24T>C) n.301T>C c.401T>C (p.Phe134Ser) c.281T>C (p.Phe94Ser) c.461T>C (p.Phe154Ser) c.302T>C (p.Phe101Ser) c.194T>C (p.Phe65Ser) c.212T>C (p.Phe71Ser) | |
| 2 | g.127421430T>G | CA348398165 | PROC | c.218T>G (p.Phe73Cys) c.*24T>G (n.*24T>G) n.301T>G c.401T>G (p.Phe134Cys) c.281T>G (p.Phe94Cys) c.461T>G (p.Phe154Cys) c.302T>G (p.Phe101Cys) c.194T>G (p.Phe65Cys) c.212T>G (p.Phe71Cys) | |
| 2 | g.127421431C>A | CA348398167 | PROC | c.219C>A (p.Phe73Leu) c.*25C>A (n.*25C>A) n.302C>A c.402C>A (p.Phe134Leu) c.282C>A (p.Phe94Leu) c.462C>A (p.Phe154Leu) c.303C>A (p.Phe101Leu) c.195C>A (p.Phe65Leu) c.213C>A (p.Phe71Leu) | |
| 2 | g.127421431C>G | CA348398168 | PROC | c.219C>G (p.Phe73Leu) c.*25C>G (n.*25C>G) n.302C>G c.402C>G (p.Phe134Leu) c.282C>G (p.Phe94Leu) c.462C>G (p.Phe154Leu) c.303C>G (p.Phe101Leu) c.195C>G (p.Phe65Leu) c.213C>G (p.Phe71Leu) | |
| 2 | g.127421431C>T | CA428617460 | PROC | c.219C>T (p.Phe73=) c.*25C>T (n.*25C>T) n.302C>T c.402C>T (p.Phe134=) c.282C>T (p.Phe94=) c.462C>T (p.Phe154=) c.303C>T (p.Phe101=) c.195C>T (p.Phe65=) c.213C>T (p.Phe71=) | gnomAD v4 COSMIC |
| 2 | g.127421432C>A | CA348398169 | PROC | c.220C>A (p.Gln74Lys) c.*26C>A (n.*26C>A) n.303C>A c.403C>A (p.Gln135Lys) c.283C>A (p.Gln95Lys) c.463C>A (p.Gln155Lys) c.304C>A (p.Gln102Lys) c.196C>A (p.Gln66Lys) c.214C>A (p.Gln72Lys) | |
| 2 | g.127421432C>G | CA348398170 | PROC | c.220C>G (p.Gln74Glu) c.*26C>G (n.*26C>G) n.303C>G c.403C>G (p.Gln135Glu) c.283C>G (p.Gln95Glu) c.463C>G (p.Gln155Glu) c.304C>G (p.Gln102Glu) c.196C>G (p.Gln66Glu) c.214C>G (p.Gln72Glu) | |
| 2 | g.127421432C>T | CA348398171 | PROC | c.220C>T (p.Gln74Ter) c.*26C>T (n.*26C>T) n.303C>T c.403C>T (p.Gln135Ter) c.283C>T (p.Gln95Ter) c.463C>T (p.Gln155Ter) c.304C>T (p.Gln102Ter) c.196C>T (p.Gln66Ter) c.214C>T (p.Gln72Ter) | COSMIC COSMIC |
| 2 | g.127421433A>C | CA348398172 | PROC | c.221A>C (p.Gln74Pro) c.*27A>C (n.*27A>C) n.304A>C c.404A>C (p.Gln135Pro) c.284A>C (p.Gln95Pro) c.464A>C (p.Gln155Pro) c.305A>C (p.Gln102Pro) c.197A>C (p.Gln66Pro) c.215A>C (p.Gln72Pro) | |
| 2 | g.127421433A>G | CA348398173 | PROC | c.221A>G (p.Gln74Arg) c.*27A>G (n.*27A>G) n.304A>G c.404A>G (p.Gln135Arg) c.284A>G (p.Gln95Arg) c.464A>G (p.Gln155Arg) c.305A>G (p.Gln102Arg) c.197A>G (p.Gln66Arg) c.215A>G (p.Gln72Arg) | |
| 2 | g.127421433A>T | CA348398174 | PROC | c.221A>T (p.Gln74Leu) c.*27A>T (n.*27A>T) n.304A>T c.404A>T (p.Gln135Leu) c.284A>T (p.Gln95Leu) c.464A>T (p.Gln155Leu) c.305A>T (p.Gln102Leu) c.197A>T (p.Gln66Leu) c.215A>T (p.Gln72Leu) | |
| 2 | g.127421434A>C | CA348398175 | PROC | c.222A>C (p.Gln74His) c.*28A>C (n.*28A>C) n.305A>C c.405A>C (p.Gln135His) c.285A>C (p.Gln95His) c.465A>C (p.Gln155His) c.306A>C (p.Gln102His) c.198A>C (p.Gln66His) c.216A>C (p.Gln72His) | |
| 2 | g.127421434A>G | CA428617462 | PROC | c.222A>G (p.Gln74=) c.*28A>G (n.*28A>G) n.305A>G c.405A>G (p.Gln135=) c.285A>G (p.Gln95=) c.465A>G (p.Gln155=) c.306A>G (p.Gln102=) c.198A>G (p.Gln66=) c.216A>G (p.Gln72=) | |
| 2 | g.127421434A>T | CA348398176 | PROC | c.222A>T (p.Gln74His) c.*28A>T (n.*28A>T) n.305A>T c.405A>T (p.Gln135His) c.285A>T (p.Gln95His) c.465A>T (p.Gln155His) c.306A>T (p.Gln102His) c.198A>T (p.Gln66His) c.216A>T (p.Gln72His) | |
| 2 | g.127421435A>C | CA348398177 | PROC | c.223A>C (p.Asn75His) c.*29A>C (n.*29A>C) n.306A>C c.406A>C (p.Asn136His) c.286A>C (p.Asn96His) c.466A>C (p.Asn156His) c.307A>C (p.Asn103His) c.199A>C (p.Asn67His) c.217A>C (p.Asn73His) | |
| 2 | g.127421435A>G | CA348398178 | PROC | c.223A>G (p.Asn75Asp) c.*29A>G (n.*29A>G) n.306A>G c.406A>G (p.Asn136Asp) c.286A>G (p.Asn96Asp) c.466A>G (p.Asn156Asp) c.307A>G (p.Asn103Asp) c.199A>G (p.Asn67Asp) c.217A>G (p.Asn73Asp) | |
| 2 | g.127421435A>T | CA348398179 | PROC | c.223A>T (p.Asn75Tyr) c.*29A>T (n.*29A>T) n.306A>T c.406A>T (p.Asn136Tyr) c.286A>T (p.Asn96Tyr) c.466A>T (p.Asn156Tyr) c.307A>T (p.Asn103Tyr) c.199A>T (p.Asn67Tyr) c.217A>T (p.Asn73Tyr) | |
| 2 | g.127421436A>C | CA348398180 | PROC | c.224A>C (p.Asn75Thr) c.*30A>C (n.*30A>C) n.307A>C c.407A>C (p.Asn136Thr) c.287A>C (p.Asn96Thr) c.467A>C (p.Asn156Thr) c.308A>C (p.Asn103Thr) c.200A>C (p.Asn67Thr) c.218A>C (p.Asn73Thr) | |
| 2 | g.127421436A>G | CA348398182 | PROC | c.224A>G (p.Asn75Ser) c.*30A>G (n.*30A>G) n.307A>G c.407A>G (p.Asn136Ser) c.287A>G (p.Asn96Ser) c.467A>G (p.Asn156Ser) c.308A>G (p.Asn103Ser) c.200A>G (p.Asn67Ser) c.218A>G (p.Asn73Ser) | |
| 2 | g.127421436A>T | CA348398181 | PROC | c.224A>T (p.Asn75Ile) c.*30A>T (n.*30A>T) n.307A>T c.407A>T (p.Asn136Ile) c.287A>T (p.Asn96Ile) c.467A>T (p.Asn156Ile) c.308A>T (p.Asn103Ile) c.200A>T (p.Asn67Ile) c.218A>T (p.Asn73Ile) | |
| 2 | g.127421437T>A | CA348398183 | PROC | c.225T>A (p.Asn75Lys) c.*31T>A (n.*31T>A) n.308T>A c.408T>A (p.Asn136Lys) c.288T>A (p.Asn96Lys) c.468T>A (p.Asn156Lys) c.309T>A (p.Asn103Lys) c.201T>A (p.Asn67Lys) c.219T>A (p.Asn73Lys) | |
| 2 | g.127421437T>C | CA428617467 | PROC | c.225T>C (p.Asn75=) c.*31T>C (n.*31T>C) n.308T>C c.408T>C (p.Asn136=) c.288T>C (p.Asn96=) c.468T>C (p.Asn156=) c.309T>C (p.Asn103=) c.201T>C (p.Asn67=) c.219T>C (p.Asn73=) | |
| 2 | g.127421437T>G | CA348398184 | PROC | c.225T>G (p.Asn75Lys) c.*31T>G (n.*31T>G) n.308T>G c.408T>G (p.Asn136Lys) c.288T>G (p.Asn96Lys) c.468T>G (p.Asn156Lys) c.309T>G (p.Asn103Lys) c.201T>G (p.Asn67Lys) c.219T>G (p.Asn73Lys) | |
| 2 | g.127421438G>A | CA114404 | PROC | c.226G>A (p.Val76Met) c.*32G>A (n.*32G>A) n.309G>A c.409G>A (p.Val137Met) c.289G>A (p.Val97Met) c.469G>A (p.Val157Met) c.310G>A (p.Val104Met) c.202G>A (p.Val68Met) c.220G>A (p.Val74Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.127421438G>C | CA348398185 | PROC | c.226G>C (p.Val76Leu) c.*32G>C (n.*32G>C) n.309G>C c.409G>C (p.Val137Leu) c.289G>C (p.Val97Leu) c.469G>C (p.Val157Leu) c.310G>C (p.Val104Leu) c.202G>C (p.Val68Leu) c.220G>C (p.Val74Leu) | |
| 2 | g.127421438G= | CA1286880958 | PROC | c.226G= (p.Val76=) c.*32G= (n.*32G=) n.309G= c.409G= (p.Val137=) c.289G= (p.Val97=) c.469G= (p.Val157=) c.310G= (p.Val104=) c.202G= (p.Val68=) c.220G= (p.Val74=) | |
| 2 | g.127421438G>T | CA348398186 | PROC | c.226G>T (p.Val76Leu) c.*32G>T (n.*32G>T) n.309G>T c.409G>T (p.Val137Leu) c.289G>T (p.Val97Leu) c.469G>T (p.Val157Leu) c.310G>T (p.Val104Leu) c.202G>T (p.Val68Leu) c.220G>T (p.Val74Leu) | dbSNP |
| 2 | g.127421439T>A | CA348398187 | PROC | c.227T>A (p.Val76Glu) c.*33T>A (n.*33T>A) n.310T>A c.410T>A (p.Val137Glu) c.290T>A (p.Val97Glu) c.470T>A (p.Val157Glu) c.311T>A (p.Val104Glu) c.203T>A (p.Val68Glu) c.221T>A (p.Val74Glu) | |
| 2 | g.127421439T>C | CA348398188 | PROC | c.227T>C (p.Val76Ala) c.*33T>C (n.*33T>C) n.310T>C c.410T>C (p.Val137Ala) c.290T>C (p.Val97Ala) c.470T>C (p.Val157Ala) c.311T>C (p.Val104Ala) c.203T>C (p.Val68Ala) c.221T>C (p.Val74Ala) | |
| 2 | g.127421439T>G | CA348398189 | PROC | c.227T>G (p.Val76Gly) c.*33T>G (n.*33T>G) n.310T>G c.410T>G (p.Val137Gly) c.290T>G (p.Val97Gly) c.470T>G (p.Val157Gly) c.311T>G (p.Val104Gly) c.203T>G (p.Val68Gly) c.221T>G (p.Val74Gly) | gnomAD v4 |
| 2 | g.127421440G>A | CA428617469 | PROC | c.228G>A (p.Val76=) c.*34G>A (n.*34G>A) n.311G>A c.411G>A (p.Val137=) c.291G>A (p.Val97=) c.471G>A (p.Val157=) c.312G>A (p.Val104=) c.204G>A (p.Val68=) c.222G>A (p.Val74=) | |
| 2 | g.127421440G>C | CA428617470 | PROC | c.228G>C (p.Val76=) c.*34G>C (n.*34G>C) n.311G>C c.411G>C (p.Val137=) c.291G>C (p.Val97=) c.471G>C (p.Val157=) c.312G>C (p.Val104=) c.204G>C (p.Val68=) c.222G>C (p.Val74=) | |
| 2 | g.127421440G>T | CA428617471 | PROC | c.228G>T (p.Val76=) c.*34G>T (n.*34G>T) n.311G>T c.411G>T (p.Val137=) c.291G>T (p.Val97=) c.471G>T (p.Val157=) c.312G>T (p.Val104=) c.204G>T (p.Val68=) c.222G>T (p.Val74=) | |
| 2 | g.127421441G>A | CA348398190 | PROC | c.229G>A (p.Asp77Asn) c.*35G>A (n.*35G>A) n.312G>A c.412G>A (p.Asp138Asn) c.292G>A (p.Asp98Asn) c.472G>A (p.Asp158Asn) c.313G>A (p.Asp105Asn) c.205G>A (p.Asp69Asn) c.223G>A (p.Asp75Asn) | dbSNP |
| 2 | g.127421441G>C | CA348398191 | PROC | c.229G>C (p.Asp77His) c.*35G>C (n.*35G>C) n.312G>C c.412G>C (p.Asp138His) c.292G>C (p.Asp98His) c.472G>C (p.Asp158His) c.313G>C (p.Asp105His) c.205G>C (p.Asp69His) c.223G>C (p.Asp75His) | |
| 2 | g.127421441G>T | CA348398192 | PROC | c.229G>T (p.Asp77Tyr) c.*35G>T (n.*35G>T) n.312G>T c.412G>T (p.Asp138Tyr) c.292G>T (p.Asp98Tyr) c.472G>T (p.Asp158Tyr) c.313G>T (p.Asp105Tyr) c.205G>T (p.Asp69Tyr) c.223G>T (p.Asp75Tyr) | |
| 2 | g.127421442A= | CA1286880964 | PROC | c.230A= (p.Asp77=) c.*36A= (n.*36A=) n.313A= c.413A= (p.Asp138=) c.293A= (p.Asp98=) c.473A= (p.Asp158=) c.314A= (p.Asp105=) c.206A= (p.Asp69=) c.224A= (p.Asp75=) | |
| 2 | g.127421442A>C | CA348398193 | PROC | c.230A>C (p.Asp77Ala) c.*36A>C (n.*36A>C) n.313A>C c.413A>C (p.Asp138Ala) c.293A>C (p.Asp98Ala) c.473A>C (p.Asp158Ala) c.314A>C (p.Asp105Ala) c.206A>C (p.Asp69Ala) c.224A>C (p.Asp75Ala) | |
| 2 | g.127421442A>G | CA348398194 | PROC | c.230A>G (p.Asp77Gly) c.*36A>G (n.*36A>G) n.313A>G c.413A>G (p.Asp138Gly) c.293A>G (p.Asp98Gly) c.473A>G (p.Asp158Gly) c.314A>G (p.Asp105Gly) c.206A>G (p.Asp69Gly) c.224A>G (p.Asp75Gly) | dbSNP gnomAD v4 |
| 2 | g.127421442A>T | CA348398195 | PROC | c.230A>T (p.Asp77Val) c.*36A>T (n.*36A>T) n.313A>T c.413A>T (p.Asp138Val) c.293A>T (p.Asp98Val) c.473A>T (p.Asp158Val) c.314A>T (p.Asp105Val) c.206A>T (p.Asp69Val) c.224A>T (p.Asp75Val) | |
| 2 | g.127421443T>A | CA348398196 | PROC | c.231T>A (p.Asp77Glu) c.*37T>A (n.*37T>A) n.314T>A c.414T>A (p.Asp138Glu) c.294T>A (p.Asp98Glu) c.474T>A (p.Asp158Glu) c.315T>A (p.Asp105Glu) c.207T>A (p.Asp69Glu) c.225T>A (p.Asp75Glu) | |
| 2 | g.127421443T>C | CA428617472 | PROC | c.231T>C (p.Asp77=) c.*37T>C (n.*37T>C) n.314T>C c.414T>C (p.Asp138=) c.294T>C (p.Asp98=) c.474T>C (p.Asp158=) c.315T>C (p.Asp105=) c.207T>C (p.Asp69=) c.225T>C (p.Asp75=) | |
| 2 | g.127421443T>G | CA348398197 | PROC | c.231T>G (p.Asp77Glu) c.*37T>G (n.*37T>G) n.314T>G c.414T>G (p.Asp138Glu) c.294T>G (p.Asp98Glu) c.474T>G (p.Asp158Glu) c.315T>G (p.Asp105Glu) c.207T>G (p.Asp69Glu) c.225T>G (p.Asp75Glu) | |
| 2 | g.127421444G>A | CA1859256 | PROC | c.232G>A (p.Asp78Asn) c.*38G>A (n.*38G>A) n.315G>A c.415G>A (p.Asp139Asn) c.295G>A (p.Asp99Asn) c.475G>A (p.Asp159Asn) c.316G>A (p.Asp106Asn) c.208G>A (p.Asp70Asn) c.226G>A (p.Asp76Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.127421444G>C | CA348398198 | PROC | c.232G>C (p.Asp78His) c.*38G>C (n.*38G>C) n.315G>C c.415G>C (p.Asp139His) c.295G>C (p.Asp99His) c.475G>C (p.Asp159His) c.316G>C (p.Asp106His) c.208G>C (p.Asp70His) c.226G>C (p.Asp76His) | |
| 2 | g.127421444G= | CA1286880968 | PROC | c.232G= (p.Asp78=) c.*38G= (n.*38G=) n.315G= c.415G= (p.Asp139=) c.295G= (p.Asp99=) c.475G= (p.Asp159=) c.316G= (p.Asp106=) c.208G= (p.Asp70=) c.226G= (p.Asp76=) | |
| 2 | g.127421444G>T | CA348398199 | PROC | c.232G>T (p.Asp78Tyr) c.*38G>T (n.*38G>T) n.315G>T c.415G>T (p.Asp139Tyr) c.295G>T (p.Asp99Tyr) c.475G>T (p.Asp159Tyr) c.316G>T (p.Asp106Tyr) c.208G>T (p.Asp70Tyr) c.226G>T (p.Asp76Tyr) | |
| 2 | g.127421445A>C | CA348398200 | PROC | c.233A>C (p.Asp78Ala) c.*39A>C (n.*39A>C) n.316A>C c.416A>C (p.Asp139Ala) c.296A>C (p.Asp99Ala) c.476A>C (p.Asp159Ala) c.317A>C (p.Asp106Ala) c.209A>C (p.Asp70Ala) c.227A>C (p.Asp76Ala) | |
| 2 | g.127421445A>G | CA348398201 | PROC | c.233A>G (p.Asp78Gly) c.*39A>G (n.*39A>G) n.316A>G c.416A>G (p.Asp139Gly) c.296A>G (p.Asp99Gly) c.476A>G (p.Asp159Gly) c.317A>G (p.Asp106Gly) c.209A>G (p.Asp70Gly) c.227A>G (p.Asp76Gly) | |
| 2 | g.127421445A>T | CA348398202 | PROC | c.233A>T (p.Asp78Val) c.*39A>T (n.*39A>T) n.316A>T c.416A>T (p.Asp139Val) c.296A>T (p.Asp99Val) c.476A>T (p.Asp159Val) c.317A>T (p.Asp106Val) c.209A>T (p.Asp70Val) c.227A>T (p.Asp76Val) | |
| 2 | g.127421446C>A | CA348398203 | PROC | c.234C>A (p.Asp78Glu) c.*40C>A (n.*40C>A) n.317C>A c.417C>A (p.Asp139Glu) c.297C>A (p.Asp99Glu) c.477C>A (p.Asp159Glu) c.318C>A (p.Asp106Glu) c.210C>A (p.Asp70Glu) c.228C>A (p.Asp76Glu) | |
| 2 | g.127421446C>G | CA348398204 | PROC | c.234C>G (p.Asp78Glu) c.*40C>G (n.*40C>G) n.317C>G c.417C>G (p.Asp139Glu) c.297C>G (p.Asp99Glu) c.477C>G (p.Asp159Glu) c.318C>G (p.Asp106Glu) c.210C>G (p.Asp70Glu) c.228C>G (p.Asp76Glu) | |
| 2 | g.127421446C>T | CA428617474 | PROC | c.234C>T (p.Asp78=) c.*40C>T (n.*40C>T) n.317C>T c.417C>T (p.Asp139=) c.297C>T (p.Asp99=) c.477C>T (p.Asp159=) c.318C>T (p.Asp106=) c.210C>T (p.Asp70=) c.228C>T (p.Asp76=) | |
| 2 | g.127421447A>C | CA348398205 | PROC | c.235A>C (p.Thr79Pro) c.*41A>C (n.*41A>C) n.318A>C c.418A>C (p.Thr140Pro) c.298A>C (p.Thr100Pro) c.478A>C (p.Thr160Pro) c.319A>C (p.Thr107Pro) c.211A>C (p.Thr71Pro) c.229A>C (p.Thr77Pro) | |
| 2 | g.127421447A>G | CA348398206 | PROC | c.235A>G (p.Thr79Ala) c.*41A>G (n.*41A>G) n.318A>G c.418A>G (p.Thr140Ala) c.298A>G (p.Thr100Ala) c.478A>G (p.Thr160Ala) c.319A>G (p.Thr107Ala) c.211A>G (p.Thr71Ala) c.229A>G (p.Thr77Ala) | |
| 2 | g.127421447A>T | CA348398207 | PROC | c.235A>T (p.Thr79Ser) c.*41A>T (n.*41A>T) n.318A>T c.418A>T (p.Thr140Ser) c.298A>T (p.Thr100Ser) c.478A>T (p.Thr160Ser) c.319A>T (p.Thr107Ser) c.211A>T (p.Thr71Ser) c.229A>T (p.Thr77Ser) | |
| 2 | g.127421448C>A | CA348398208 | PROC | c.236C>A (p.Thr79Lys) c.*42C>A (n.*42C>A) n.319C>A c.419C>A (p.Thr140Lys) c.299C>A (p.Thr100Lys) c.479C>A (p.Thr160Lys) c.320C>A (p.Thr107Lys) c.212C>A (p.Thr71Lys) c.230C>A (p.Thr77Lys) | |
| 2 | g.127421448C>G | CA348398210 | PROC | c.236C>G (p.Thr79Arg) c.*42C>G (n.*42C>G) n.319C>G c.419C>G (p.Thr140Arg) c.299C>G (p.Thr100Arg) c.479C>G (p.Thr160Arg) c.320C>G (p.Thr107Arg) c.212C>G (p.Thr71Arg) c.230C>G (p.Thr77Arg) | ClinVar |
| 2 | g.127421448C>T | CA348398209 | PROC | c.236C>T (p.Thr79Ile) c.*42C>T (n.*42C>T) n.319C>T c.419C>T (p.Thr140Ile) c.299C>T (p.Thr100Ile) c.479C>T (p.Thr160Ile) c.320C>T (p.Thr107Ile) c.212C>T (p.Thr71Ile) c.230C>T (p.Thr77Ile) | |
| 2 | g.127421449A>C | CA428617476 | PROC | c.237A>C (p.Thr79=) c.*43A>C (n.*43A>C) n.320A>C c.420A>C (p.Thr140=) c.300A>C (p.Thr100=) c.480A>C (p.Thr160=) c.321A>C (p.Thr107=) c.213A>C (p.Thr71=) c.231A>C (p.Thr77=) | gnomAD v4 |
| 2 | g.127421449A>G | CA428617478 | PROC | c.237A>G (p.Thr79=) c.*43A>G (n.*43A>G) n.320A>G c.420A>G (p.Thr140=) c.300A>G (p.Thr100=) c.480A>G (p.Thr160=) c.321A>G (p.Thr107=) c.213A>G (p.Thr71=) c.231A>G (p.Thr77=) | |
| 2 | g.127421449A>T | CA428617479 | PROC | c.237A>T (p.Thr79=) c.*43A>T (n.*43A>T) n.320A>T c.420A>T (p.Thr140=) c.300A>T (p.Thr100=) c.480A>T (p.Thr160=) c.321A>T (p.Thr107=) c.213A>T (p.Thr71=) c.231A>T (p.Thr77=) | |
| 2 | g.127421450G>A | CA348398211 | PROC | c.237+1G>A (n.237+1G>A) c.*43+1G>A (n.*43+1G>A) n.320+1G>A c.420+1G>A (n.420+1G>A) c.300+1G>A (n.300+1G>A) c.480+1G>A (n.480+1G>A) c.321+1G>A (n.321+1G>A) c.213+1G>A (n.213+1G>A) c.231+1G>A (n.231+1G>A) | |
| 2 | g.127421450G>C | CA348398213 | PROC | c.237+1G>C (n.237+1G>C) c.*43+1G>C (n.*43+1G>C) n.320+1G>C c.420+1G>C (n.420+1G>C) c.300+1G>C (n.300+1G>C) c.480+1G>C (n.480+1G>C) c.321+1G>C (n.321+1G>C) c.213+1G>C (n.213+1G>C) c.231+1G>C (n.231+1G>C) | |
| 2 | g.127421450G>T | CA348398212 | PROC | c.237+1G>T (n.237+1G>T) c.*43+1G>T (n.*43+1G>T) n.320+1G>T c.420+1G>T (n.420+1G>T) c.300+1G>T (n.300+1G>T) c.480+1G>T (n.480+1G>T) c.321+1G>T (n.321+1G>T) c.213+1G>T (n.213+1G>T) c.231+1G>T (n.231+1G>T) | |
| 2 | g.127421451T>A | CA348398214 | PROC | c.237+2T>A (n.237+2T>A) c.*43+2T>A (n.*43+2T>A) n.320+2T>A c.420+2T>A (n.420+2T>A) c.300+2T>A (n.300+2T>A) c.480+2T>A (n.480+2T>A) c.321+2T>A (n.321+2T>A) c.213+2T>A (n.213+2T>A) c.231+2T>A (n.231+2T>A) | |
| 2 | g.127421451T>C | CA348398215 | PROC | c.237+2T>C (n.237+2T>C) c.*43+2T>C (n.*43+2T>C) n.320+2T>C c.420+2T>C (n.420+2T>C) c.300+2T>C (n.300+2T>C) c.480+2T>C (n.480+2T>C) c.321+2T>C (n.321+2T>C) c.213+2T>C (n.213+2T>C) c.231+2T>C (n.231+2T>C) | |
| 2 | g.127421451T>G | CA348398216 | PROC | c.237+2T>G (n.237+2T>G) c.*43+2T>G (n.*43+2T>G) n.320+2T>G c.420+2T>G (n.420+2T>G) c.300+2T>G (n.300+2T>G) c.480+2T>G (n.480+2T>G) c.321+2T>G (n.321+2T>G) c.213+2T>G (n.213+2T>G) c.231+2T>G (n.231+2T>G) | |
| 2 | g.127421452A>G | CA2586969847 | PROC | c.237+3A>G (n.237+3A>G) c.*43+3A>G (n.*43+3A>G) n.320+3A>G c.420+3A>G (n.420+3A>G) c.300+3A>G (n.300+3A>G) c.480+3A>G (n.480+3A>G) c.321+3A>G (n.321+3A>G) c.213+3A>G (n.213+3A>G) c.231+3A>G (n.231+3A>G) | gnomAD v4 |
| 2 | g.127421454G>A | CA1859257 | PROC | c.237+5G>A (n.237+5G>A) c.*43+5G>A (n.*43+5G>A) n.320+5G>A c.420+5G>A (n.420+5G>A) c.300+5G>A (n.300+5G>A) c.480+5G>A (n.480+5G>A) c.321+5G>A (n.321+5G>A) c.213+5G>A (n.213+5G>A) c.231+5G>A (n.231+5G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.127421454G= | CA1286880970 | PROC | c.237+5G= (n.237+5G=) c.*43+5G= (n.*43+5G=) n.320+5G= c.420+5G= (n.420+5G=) c.300+5G= (n.300+5G=) c.480+5G= (n.480+5G=) c.321+5G= (n.321+5G=) c.213+5G= (n.213+5G=) c.231+5G= (n.231+5G=) | |
| 2 | g.127421457C= | CA1286880972 | PROC | c.237+8C= (n.237+8C=) c.*43+8C= (n.*43+8C=) n.320+8C= c.420+8C= (n.420+8C=) c.300+8C= (n.300+8C=) c.480+8C= (n.480+8C=) c.321+8C= (n.321+8C=) c.213+8C= (n.213+8C=) c.231+8C= (n.231+8C=) | |
| 2 | g.127421457C>T | CA1859258 | PROC | c.237+8C>T (n.237+8C>T) c.*43+8C>T (n.*43+8C>T) n.320+8C>T c.420+8C>T (n.420+8C>T) c.300+8C>T (n.300+8C>T) c.480+8C>T (n.480+8C>T) c.321+8C>T (n.321+8C>T) c.213+8C>T (n.213+8C>T) c.231+8C>T (n.231+8C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.127421458A>T | CA2577090240 | PROC | c.237+9A>T (n.237+9A>T) c.*43+9A>T (n.*43+9A>T) n.320+9A>T c.420+9A>T (n.420+9A>T) c.300+9A>T (n.300+9A>T) c.480+9A>T (n.480+9A>T) c.321+9A>T (n.321+9A>T) c.213+9A>T (n.213+9A>T) c.231+9A>T (n.231+9A>T) | gnomAD v4 |
| 2 | g.127421462T>A | CA2660995850 | PROC | c.237+13T>A (n.237+13T>A) c.*43+13T>A (n.*43+13T>A) n.320+13T>A c.420+13T>A (n.420+13T>A) c.300+13T>A (n.300+13T>A) c.480+13T>A (n.480+13T>A) c.321+13T>A (n.321+13T>A) c.213+13T>A (n.213+13T>A) c.231+13T>A (n.231+13T>A) | gnomAD v4 |
| 2 | g.127421462T>C | CA2660995851 | PROC | c.237+13T>C (n.237+13T>C) c.*43+13T>C (n.*43+13T>C) n.320+13T>C c.420+13T>C (n.420+13T>C) c.300+13T>C (n.300+13T>C) c.480+13T>C (n.480+13T>C) c.321+13T>C (n.321+13T>C) c.213+13T>C (n.213+13T>C) c.231+13T>C (n.231+13T>C) | gnomAD v4 |
| 2 | g.127421463G>A | CA2660995852 | PROC | c.237+14G>A (n.237+14G>A) c.*43+14G>A (n.*43+14G>A) n.320+14G>A c.420+14G>A (n.420+14G>A) c.300+14G>A (n.300+14G>A) c.480+14G>A (n.480+14G>A) c.321+14G>A (n.321+14G>A) c.213+14G>A (n.213+14G>A) c.231+14G>A (n.231+14G>A) | gnomAD v4 |
| 2 | g.127421463G>T | CA2660995854 | PROC | c.237+14G>T (n.237+14G>T) c.*43+14G>T (n.*43+14G>T) n.320+14G>T c.420+14G>T (n.420+14G>T) c.300+14G>T (n.300+14G>T) c.480+14G>T (n.480+14G>T) c.321+14G>T (n.321+14G>T) c.213+14G>T (n.213+14G>T) c.231+14G>T (n.231+14G>T) | gnomAD v4 |
| 2 | g.127421464G>A | CA1859259 | PROC | c.237+15G>A (n.237+15G>A) c.*43+15G>A (n.*43+15G>A) n.320+15G>A c.420+15G>A (n.420+15G>A) c.300+15G>A (n.300+15G>A) c.480+15G>A (n.480+15G>A) c.321+15G>A (n.321+15G>A) c.213+15G>A (n.213+15G>A) c.231+15G>A (n.231+15G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.127421464G= | CA1286880975 | PROC | c.237+15G= (n.237+15G=) c.*43+15G= (n.*43+15G=) n.320+15G= c.420+15G= (n.420+15G=) c.300+15G= (n.300+15G=) c.480+15G= (n.480+15G=) c.321+15G= (n.321+15G=) c.213+15G= (n.213+15G=) c.231+15G= (n.231+15G=) | |
| 2 | g.127421465G>A | CA1859260 | PROC | c.237+16G>A (n.237+16G>A) c.*43+16G>A (n.*43+16G>A) n.320+16G>A c.420+16G>A (n.420+16G>A) c.300+16G>A (n.300+16G>A) c.480+16G>A (n.480+16G>A) c.321+16G>A (n.321+16G>A) c.213+16G>A (n.213+16G>A) c.231+16G>A (n.231+16G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.127421465G= | CA1286880978 | PROC | c.237+16G= (n.237+16G=) c.*43+16G= (n.*43+16G=) n.320+16G= c.420+16G= (n.420+16G=) c.300+16G= (n.300+16G=) c.480+16G= (n.480+16G=) c.321+16G= (n.321+16G=) c.213+16G= (n.213+16G=) c.231+16G= (n.231+16G=) | |
| 2 | g.127421466T>C | CA535638982 | PROC | c.237+17T>C (n.237+17T>C) c.*43+17T>C (n.*43+17T>C) n.320+17T>C c.420+17T>C (n.420+17T>C) c.300+17T>C (n.300+17T>C) c.480+17T>C (n.480+17T>C) c.321+17T>C (n.321+17T>C) c.213+17T>C (n.213+17T>C) c.231+17T>C (n.231+17T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.127421466T>G | CA2660995864 | PROC | c.237+17T>G (n.237+17T>G) c.*43+17T>G (n.*43+17T>G) n.320+17T>G c.420+17T>G (n.420+17T>G) c.300+17T>G (n.300+17T>G) c.480+17T>G (n.480+17T>G) c.321+17T>G (n.321+17T>G) c.213+17T>G (n.213+17T>G) c.231+17T>G (n.231+17T>G) | gnomAD v4 |
| 2 | g.127421466T= | CA1286880979 | PROC | c.237+17T= (n.237+17T=) c.*43+17T= (n.*43+17T=) n.320+17T= c.420+17T= (n.420+17T=) c.300+17T= (n.300+17T=) c.480+17T= (n.480+17T=) c.321+17T= (n.321+17T=) c.213+17T= (n.213+17T=) c.231+17T= (n.231+17T=) |