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 |
|---|---|---|---|---|---|
| 3 | g.52403140_52403300del | CA645529886 | BAP1 | c.1730_1890del c.1676_1836del n.137_297del c.120-457_120-297del c.233_393del c.1730_1845+45del | COSMIC |
| 3 | g.52403140T>A | CA353097863 | BAP1 | c.1888A>T (p.Lys630Ter) c.1834A>T (p.Lys612Ter) n.295A>T c.120-299A>T c.391A>T (p.Lys131Ter) c.1845+43A>T (n.1845+43A>T) | |
| 3 | g.52403140T>C | CA353097872 | BAP1 | c.1888A>G (p.Lys630Glu) c.1834A>G (p.Lys612Glu) n.295A>G c.120-299A>G c.391A>G (p.Lys131Glu) c.1845+43A>G (n.1845+43A>G) | |
| 3 | g.52403140T>G | CA353097874 | BAP1 | c.1888A>C (p.Lys630Gln) c.1834A>C (p.Lys612Gln) n.295A>C c.120-299A>C c.391A>C (p.Lys131Gln) c.1845+43A>C (n.1845+43A>C) | |
| 3 | g.52403141G>A | CA433885764 | BAP1 | c.1887C>T (p.Pro629=) c.1833C>T (p.Pro611=) n.294C>T c.120-300C>T c.390C>T (p.Pro130=) c.1845+42C>T (n.1845+42C>T) | ClinVar dbSNP gnomAD v4 |
| 3 | g.52403141G>C | CA433885765 | BAP1 | c.1887C>G (p.Pro629=) c.1833C>G (p.Pro611=) n.294C>G c.120-300C>G c.390C>G (p.Pro130=) c.1845+42C>G (n.1845+42C>G) | ClinVar dbSNP gnomAD v4 |
| 3 | g.52403141G= | CA1364835556 | BAP1 | c.1887C= (p.Pro629=) c.1833C= (p.Pro611=) n.294C= c.120-300C= c.390C= (p.Pro130=) c.1845+42C= (n.1845+42C=) | |
| 3 | g.52403141G>T | CA433885766 | BAP1 | c.1887C>A (p.Pro629=) c.1833C>A (p.Pro611=) n.294C>A c.120-300C>A c.390C>A (p.Pro130=) c.1845+42C>A (n.1845+42C>A) | dbSNP COSMIC |
| 3 | g.52403143del | CA2577782289 | BAP1 | c.1887del (p.Lys630ArgfsTer7) c.1833del (p.Lys612ArgfsTer7) n.294del c.120-300del c.390del (p.Lys131SerfsTer?) c.1887del (p.Lys630SerfsTer?) c.1845+42del (n.1845+42del) c.1833del (p.Lys612SerfsTer?) | |
| 3 | g.52403142G>A | CA353097878 | BAP1 | c.1886C>T (p.Pro629Leu) c.1832C>T (p.Pro611Leu) n.293C>T c.120-301C>T c.389C>T (p.Pro130Leu) c.1845+41C>T (n.1845+41C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.52403142G>C | CA353097880 | BAP1 | c.1886C>G (p.Pro629Arg) c.1832C>G (p.Pro611Arg) n.293C>G c.120-301C>G c.389C>G (p.Pro130Arg) c.1845+41C>G (n.1845+41C>G) | dbSNP gnomAD v4 |
| 3 | g.52403142G= | CA1364835558 | BAP1 | c.1886C= (p.Pro629=) c.1832C= (p.Pro611=) n.293C= c.120-301C= c.389C= (p.Pro130=) c.1845+41C= (n.1845+41C=) | |
| 3 | g.52403142G>T | CA353097883 | BAP1 | c.1886C>A (p.Pro629His) c.1832C>A (p.Pro611His) n.293C>A c.120-301C>A c.389C>A (p.Pro130His) c.1845+41C>A (n.1845+41C>A) | dbSNP COSMIC |
| 3 | g.52403142_52403146delinsGGTGA | CA1364835559 | BAP1 | c.1882_1886delinsTCACC (p.Ser628=) c.1828_1832delinsTCACC (p.Ser610=) n.289_293delinsTCACC c.120-305_120-301delinsTCACC c.385_389delinsTCACC (p.Ser129=) c.1845+37_1845+41delinsTCACC (n.1845+37_1845+41delinsTCACC) | |
| 3 | g.52403143G>A | CA353097894 | BAP1 | c.1885C>T (p.Pro629Ser) c.1831C>T (p.Pro611Ser) n.292C>T c.120-302C>T c.388C>T (p.Pro130Ser) c.1845+40C>T (n.1845+40C>T) | dbSNP COSMIC |
| 3 | g.52403143G>C | CA353097899 | BAP1 | c.1885C>G (p.Pro629Ala) c.1831C>G (p.Pro611Ala) n.292C>G c.120-302C>G c.388C>G (p.Pro130Ala) c.1845+40C>G (n.1845+40C>G) | dbSNP |
| 3 | g.52403143G>T | CA353097889 | BAP1 | c.1885C>A (p.Pro629Thr) c.1831C>A (p.Pro611Thr) n.292C>A c.120-302C>A c.388C>A (p.Pro130Thr) c.1845+40C>A (n.1845+40C>A) | dbSNP |
| 3 | g.52403145_52403148del | CA645529887 | BAP1 | c.1882_1885del (p.Ser628ProfsTer8) c.1828_1831del (p.Ser610ProfsTer8) n.289_292del c.120-305_120-302del c.385_388del (p.Ser129ProfsTer?) c.1882_1885del (p.Ser628ProfsTer?) c.1845+37_1845+40del (n.1845+37_1845+40del) c.1828_1831del (p.Ser610ProfsTer?) | ClinVar dbSNP COSMIC |
| 3 | g.52403144T>A | CA433885770 | BAP1 | c.1884A>T (p.Ser628=) c.1830A>T (p.Ser610=) n.291A>T c.120-303A>T c.387A>T (p.Ser129=) c.1845+39A>T (n.1845+39A>T) | dbSNP |
| 3 | g.52403144T>C | CA433885771 | BAP1 | c.1884A>G (p.Ser628=) c.1830A>G (p.Ser610=) n.291A>G c.120-303A>G c.387A>G (p.Ser129=) c.1845+39A>G (n.1845+39A>G) | |
| 3 | g.52403144T>G | CA433885773 | BAP1 | c.1884A>C (p.Ser628=) c.1830A>C (p.Ser610=) n.291A>C c.120-303A>C c.387A>C (p.Ser129=) c.1845+39A>C (n.1845+39A>C) | dbSNP |
| 3 | g.52403145G>A | CA353097901 | BAP1 | c.1883C>T (p.Ser628Leu) c.1829C>T (p.Ser610Leu) n.290C>T c.120-304C>T c.386C>T (p.Ser129Leu) c.1845+38C>T (n.1845+38C>T) | ClinVar dbSNP gnomAD v4 |
| 3 | g.52403145G>C | CA353097905 | BAP1 | c.1883C>G (p.Ser628Ter) c.1829C>G (p.Ser610Ter) n.290C>G c.120-304C>G c.386C>G (p.Ser129Ter) c.1845+38C>G (n.1845+38C>G) | dbSNP |
| 3 | g.52403145G>T | CA353097910 | BAP1 | c.1883C>A (p.Ser628Ter) c.1829C>A (p.Ser610Ter) n.290C>A c.120-304C>A c.386C>A (p.Ser129Ter) c.1845+38C>A (n.1845+38C>A) | ClinVar dbSNP gnomAD v4 |
| 3 | g.52403145_52403147delinsGAG | CA1364835563 | BAP1 | c.1881_1883delinsCTC (p.Tyr627=) c.1827_1829delinsCTC (p.Tyr609=) n.288_290delinsCTC c.120-306_120-304delinsCTC c.384_386delinsCTC (p.Tyr128=) c.1845+36_1845+38delinsCTC (n.1845+36_1845+38delinsCTC) | |
| 3 | g.52403146A= | CA1364835567 | BAP1 | c.1882T= (p.Ser628=) c.1828T= (p.Ser610=) n.289T= c.120-305T= c.385T= (p.Ser129=) c.1845+37T= (n.1845+37T=) | |
| 3 | g.52403146A>C | CA353097912 | BAP1 | c.1882T>G (p.Ser628Ala) c.1828T>G (p.Ser610Ala) n.289T>G c.120-305T>G c.385T>G (p.Ser129Ala) c.1845+37T>G (n.1845+37T>G) | ClinVar dbSNP |
| 3 | g.52403146A>G | CA353097913 | BAP1 | c.1882T>C (p.Ser628Pro) c.1828T>C (p.Ser610Pro) n.289T>C c.120-305T>C c.385T>C (p.Ser129Pro) c.1845+37T>C (n.1845+37T>C) | dbSNP |
| 3 | g.52403146A>T | CA353097914 | BAP1 | c.1882T>A (p.Ser628Thr) c.1828T>A (p.Ser610Thr) n.289T>A c.120-305T>A c.385T>A (p.Ser129Thr) c.1845+37T>A (n.1845+37T>A) | dbSNP |
| 3 | g.52403146_52403147delinsC | CA1139658110 | BAP1 | c.1881_1882delinsG (p.Tyr627Ter) c.1827_1828delinsG (p.Tyr609Ter) n.288_289delinsG c.120-306_120-305delinsG c.384_385delinsG (p.Tyr128Ter) c.1845+36_1845+37delinsG (n.1845+36_1845+37delinsG) | ClinVar dbSNP |
| 3 | g.52403147G>A | CA74740304 | BAP1 | c.1881C>T (p.Tyr627=) c.1827C>T (p.Tyr609=) n.288C>T c.120-306C>T c.384C>T (p.Tyr128=) c.1845+36C>T (n.1845+36C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.52403147G>C | CA353097915 | BAP1 | c.1881C>G (p.Tyr627Ter) c.1827C>G (p.Tyr609Ter) n.288C>G c.120-306C>G c.384C>G (p.Tyr128Ter) c.1845+36C>G (n.1845+36C>G) | dbSNP COSMIC |
| 3 | g.52403147G= | CA1364835568 | BAP1 | c.1881C= (p.Tyr627=) c.1827C= (p.Tyr609=) n.288C= c.120-306C= c.384C= (p.Tyr128=) c.1845+36C= (n.1845+36C=) | |
| 3 | g.52403147G>T | CA353097918 | BAP1 | c.1881C>A (p.Tyr627Ter) c.1827C>A (p.Tyr609Ter) n.288C>A c.120-306C>A c.384C>A (p.Tyr128Ter) c.1845+36C>A (n.1845+36C>A) | |
| 3 | g.52403148T>A | CA16611338 | BAP1 | c.1880A>T (p.Tyr627Phe) c.1826A>T (p.Tyr609Phe) n.287A>T c.120-307A>T c.383A>T (p.Tyr128Phe) c.1845+35A>T (n.1845+35A>T) | ClinVar dbSNP |
| 3 | g.52403148T>C | CA353097920 | BAP1 | c.1880A>G (p.Tyr627Cys) c.1826A>G (p.Tyr609Cys) n.287A>G c.120-307A>G c.383A>G (p.Tyr128Cys) c.1845+35A>G (n.1845+35A>G) | |
| 3 | g.52403148T>G | CA353097921 | BAP1 | c.1880A>C (p.Tyr627Ser) c.1826A>C (p.Tyr609Ser) n.287A>C c.120-307A>C c.383A>C (p.Tyr128Ser) c.1845+35A>C (n.1845+35A>C) | |
| 3 | g.52403148T= | CA1364835569 | BAP1 | c.1880A= (p.Tyr627=) c.1826A= (p.Tyr609=) n.287A= c.120-307A= c.383A= (p.Tyr128=) c.1845+35A= (n.1845+35A=) | |
| 3 | g.52403149A>C | CA353097922 | BAP1 | c.1879T>G (p.Tyr627Asp) c.1825T>G (p.Tyr609Asp) n.286T>G c.120-308T>G c.382T>G (p.Tyr128Asp) c.1845+34T>G (n.1845+34T>G) | dbSNP |
| 3 | g.52403149A>G | CA353097923 | BAP1 | c.1879T>C (p.Tyr627His) c.1825T>C (p.Tyr609His) n.286T>C c.120-308T>C c.382T>C (p.Tyr128His) c.1845+34T>C (n.1845+34T>C) | dbSNP gnomAD v4 |
| 3 | g.52403149A>T | CA353097926 | BAP1 | c.1879T>A (p.Tyr627Asn) c.1825T>A (p.Tyr609Asn) n.286T>A c.120-308T>A c.382T>A (p.Tyr128Asn) c.1845+34T>A (n.1845+34T>A) | dbSNP |
| 3 | g.52403149_52403150delinsAT | CA1364835571 | BAP1 | c.1878_1879delinsAT (p.Lys626=) c.1824_1825delinsAT (p.Lys608=) n.285_286delinsAT c.120-309_120-308delinsAT c.381_382delinsAT (p.Lys127=) c.1845+33_1845+34delinsAT (n.1845+33_1845+34delinsAT) | |
| 3 | g.52403150T>A | CA353097948 | BAP1 | c.1878A>T (p.Lys626Asn) c.1824A>T (p.Lys608Asn) n.285A>T c.120-309A>T c.381A>T (p.Lys127Asn) c.1845+33A>T (n.1845+33A>T) | |
| 3 | g.52403150T>C | CA433885779 | BAP1 | c.1878A>G (p.Lys626=) c.1824A>G (p.Lys608=) n.285A>G c.120-309A>G c.381A>G (p.Lys127=) c.1845+33A>G (n.1845+33A>G) | dbSNP |
| 3 | g.52403150T>G | CA353097939 | BAP1 | c.1878A>C (p.Lys626Asn) c.1824A>C (p.Lys608Asn) n.285A>C c.120-309A>C c.381A>C (p.Lys127Asn) c.1845+33A>C (n.1845+33A>C) | |
| 3 | g.52403152del | CA1364835574 | BAP1 | c.1878del (p.Lys626AsnfsTer11) c.1824del (p.Lys608AsnfsTer11) n.285del c.120-309del c.381del (p.Lys127AsnfsTer?) c.1878del (p.Lys626AsnfsTer?) c.1845+33del (n.1845+33del) c.1824del (p.Lys608AsnfsTer?) | dbSNP |
| 3 | g.52403151T>A | CA353097952 | BAP1 | c.1877A>T (p.Lys626Ile) c.1823A>T (p.Lys608Ile) n.284A>T c.120-310A>T c.380A>T (p.Lys127Ile) c.1845+32A>T (n.1845+32A>T) | dbSNP |
| 3 | g.52403151T>C | CA353097963 | BAP1 | c.1877A>G (p.Lys626Arg) c.1823A>G (p.Lys608Arg) n.284A>G c.120-310A>G c.380A>G (p.Lys127Arg) c.1845+32A>G (n.1845+32A>G) | ClinVar |
| 3 | g.52403151T>G | CA353097955 | BAP1 | c.1877A>C (p.Lys626Thr) c.1823A>C (p.Lys608Thr) n.284A>C c.120-310A>C c.380A>C (p.Lys127Thr) c.1845+32A>C (n.1845+32A>C) | |
| 3 | g.52403152T>A | CA353097966 | BAP1 | c.1876A>T (p.Lys626Ter) c.1822A>T (p.Lys608Ter) n.283A>T c.120-311A>T c.379A>T (p.Lys127Ter) c.1845+31A>T (n.1845+31A>T) | dbSNP COSMIC |
| 3 | g.52403152T>C | CA353097967 | BAP1 | c.1876A>G (p.Lys626Glu) c.1822A>G (p.Lys608Glu) n.283A>G c.120-311A>G c.379A>G (p.Lys127Glu) c.1845+31A>G (n.1845+31A>G) | dbSNP |
| 3 | g.52403152T>G | CA353097968 | BAP1 | c.1876A>C (p.Lys626Gln) c.1822A>C (p.Lys608Gln) n.283A>C c.120-311A>C c.379A>C (p.Lys127Gln) c.1845+31A>C (n.1845+31A>C) | |
| 3 | g.52403153C>A | CA353097969 | BAP1 | c.1875G>T (p.Glu625Asp) c.1821G>T (p.Glu607Asp) n.282G>T c.120-312G>T c.378G>T (p.Glu126Asp) c.1845+30G>T (n.1845+30G>T) | |
| 3 | g.52403153C>G | CA353097972 | BAP1 | c.1875G>C (p.Glu625Asp) c.1821G>C (p.Glu607Asp) n.282G>C c.120-312G>C c.378G>C (p.Glu126Asp) c.1845+30G>C (n.1845+30G>C) | dbSNP |
| 3 | g.52403153C>T | CA433885790 | BAP1 | c.1875G>A (p.Glu625=) c.1821G>A (p.Glu607=) n.282G>A c.120-312G>A c.378G>A (p.Glu126=) c.1845+30G>A (n.1845+30G>A) | dbSNP |
| 3 | g.52403154T>A | CA353097984 | BAP1 | c.1874A>T (p.Glu625Val) c.1820A>T (p.Glu607Val) n.281A>T c.120-313A>T c.377A>T (p.Glu126Val) c.1845+29A>T (n.1845+29A>T) | |
| 3 | g.52403154T>C | CA353097986 | BAP1 | c.1874A>G (p.Glu625Gly) c.1820A>G (p.Glu607Gly) n.281A>G c.120-313A>G c.377A>G (p.Glu126Gly) c.1845+29A>G (n.1845+29A>G) | |
| 3 | g.52403154T>G | CA353097988 | BAP1 | c.1874A>C (p.Glu625Ala) c.1820A>C (p.Glu607Ala) n.281A>C c.120-313A>C c.377A>C (p.Glu126Ala) c.1845+29A>C (n.1845+29A>C) | |
| 3 | g.52403155C>A | CA353097993 | BAP1 | c.1873G>T (p.Glu625Ter) c.1819G>T (p.Glu607Ter) n.280G>T c.120-314G>T c.376G>T (p.Glu126Ter) c.1845+28G>T (n.1845+28G>T) | |
| 3 | g.52403155C= | CA1364835576 | BAP1 | c.1873G= (p.Glu625=) c.1819G= (p.Glu607=) n.280G= c.120-314G= c.376G= (p.Glu126=) c.1845+28G= (n.1845+28G=) | |
| 3 | g.52403155C>G | CA353097996 | BAP1 | c.1873G>C (p.Glu625Gln) c.1819G>C (p.Glu607Gln) n.280G>C c.120-314G>C c.376G>C (p.Glu126Gln) c.1845+28G>C (n.1845+28G>C) | dbSNP |
| 3 | g.52403155C>T | CA353097997 | BAP1 | c.1873G>A (p.Glu625Lys) c.1819G>A (p.Glu607Lys) n.280G>A c.120-314G>A c.376G>A (p.Glu126Lys) c.1845+28G>A (n.1845+28G>A) | ClinVar dbSNP gnomAD v4 |
| 3 | g.52403156C>A | CA433885792 | BAP1 | c.1872G>T (p.Gly624=) c.1818G>T (p.Gly606=) n.279G>T c.120-315G>T c.375G>T (p.Gly125=) c.1845+27G>T (n.1845+27G>T) | dbSNP |
| 3 | g.52403156C= | CA1364835578 | BAP1 | c.1872G= (p.Gly624=) c.1818G= (p.Gly606=) n.279G= c.120-315G= c.375G= (p.Gly125=) c.1845+27G= (n.1845+27G=) | |
| 3 | g.52403156C>G | CA433885801 | BAP1 | c.1872G>C (p.Gly624=) c.1818G>C (p.Gly606=) n.279G>C c.120-315G>C c.375G>C (p.Gly125=) c.1845+27G>C (n.1845+27G>C) | ClinVar dbSNP gnomAD v2 |
| 3 | g.52403156C>T | CA2436696 | BAP1 | c.1872G>A (p.Gly624=) c.1818G>A (p.Gly606=) n.279G>A c.120-315G>A c.375G>A (p.Gly125=) c.1845+27G>A (n.1845+27G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.52403157_52403160del | CA645529888 | BAP1 | c.1869_1872del (p.Ser623ArgfsTer13) c.1815_1818del (p.Ser605ArgfsTer13) n.276_279del c.120-318_120-315del c.372_375del (p.Ser124ArgfsTer?) c.1869_1872del (p.Ser623ArgfsTer?) c.1845+24_1845+27del (n.1845+24_1845+27del) c.1815_1818del (p.Ser605ArgfsTer?) | COSMIC |
| 3 | g.52403157C>A | CA353098003 | BAP1 | c.1871G>T (p.Gly624Val) c.1817G>T (p.Gly606Val) n.278G>T c.120-316G>T c.374G>T (p.Gly125Val) c.1845+26G>T (n.1845+26G>T) | dbSNP |
| 3 | g.52403157C>G | CA353097998 | BAP1 | c.1871G>C (p.Gly624Ala) c.1817G>C (p.Gly606Ala) n.278G>C c.120-316G>C c.374G>C (p.Gly125Ala) c.1845+26G>C (n.1845+26G>C) | dbSNP |
| 3 | g.52403157C>T | CA353098000 | BAP1 | c.1871G>A (p.Gly624Glu) c.1817G>A (p.Gly606Glu) n.278G>A c.120-316G>A c.374G>A (p.Gly125Glu) c.1845+26G>A (n.1845+26G>A) | dbSNP gnomAD v4 |
| 3 | g.52403158C>A | CA353098008 | BAP1 | c.1870G>T (p.Gly624Trp) c.1816G>T (p.Gly606Trp) n.277G>T c.120-317G>T c.373G>T (p.Gly125Trp) c.1845+25G>T (n.1845+25G>T) | dbSNP |
| 3 | g.52403158C= | CA1364835581 | BAP1 | c.1870G= (p.Gly624=) c.1816G= (p.Gly606=) n.277G= c.120-317G= c.373G= (p.Gly125=) c.1845+25G= (n.1845+25G=) | |
| 3 | g.52403158C>G | CA353098011 | BAP1 | c.1870G>C (p.Gly624Arg) c.1816G>C (p.Gly606Arg) n.277G>C c.120-317G>C c.373G>C (p.Gly125Arg) c.1845+25G>C (n.1845+25G>C) | |
| 3 | g.52403158C>T | CA353098015 | BAP1 | c.1870G>A (p.Gly624Arg) c.1816G>A (p.Gly606Arg) n.277G>A c.120-317G>A c.373G>A (p.Gly125Arg) c.1845+25G>A (n.1845+25G>A) | dbSNP |
| 3 | g.52403159del | CA2580070209 | BAP1 | c.1869del (p.Ser623ArgfsTer14) c.1815del (p.Ser605ArgfsTer14) n.276del c.120-318del c.372del (p.Ser124ArgfsTer?) c.1869del (p.Ser623ArgfsTer?) c.1845+24del (n.1845+24del) c.1815del (p.Ser605ArgfsTer?) | ClinVar |
| 3 | g.52403159A>C | CA353098017 | BAP1 | c.1869T>G (p.Ser623Arg) c.1815T>G (p.Ser605Arg) n.276T>G c.120-318T>G c.372T>G (p.Ser124Arg) c.1845+24T>G (n.1845+24T>G) | dbSNP |
| 3 | g.52403159A>G | CA433885806 | BAP1 | c.1869T>C (p.Ser623=) c.1815T>C (p.Ser605=) n.276T>C c.120-318T>C c.372T>C (p.Ser124=) c.1845+24T>C (n.1845+24T>C) | dbSNP |
| 3 | g.52403159A>T | CA353098019 | BAP1 | c.1869T>A (p.Ser623Arg) c.1815T>A (p.Ser605Arg) n.276T>A c.120-318T>A c.372T>A (p.Ser124Arg) c.1845+24T>A (n.1845+24T>A) | dbSNP |
| 3 | g.52403160C>A | CA353098021 | BAP1 | c.1868G>T (p.Ser623Ile) c.1814G>T (p.Ser605Ile) n.275G>T c.120-319G>T c.371G>T (p.Ser124Ile) c.1845+23G>T (n.1845+23G>T) | dbSNP |
| 3 | g.52403160C= | CA1364835583 | BAP1 | c.1868G= (p.Ser623=) c.1814G= (p.Ser605=) n.275G= c.120-319G= c.371G= (p.Ser124=) c.1845+23G= (n.1845+23G=) | |
| 3 | g.52403160C>G | CA353098023 | BAP1 | c.1868G>C (p.Ser623Thr) c.1814G>C (p.Ser605Thr) n.275G>C c.120-319G>C c.371G>C (p.Ser124Thr) c.1845+23G>C (n.1845+23G>C) | |
| 3 | g.52403160C>T | CA353098033 | BAP1 | c.1868G>A (p.Ser623Asn) c.1814G>A (p.Ser605Asn) n.275G>A c.120-319G>A c.371G>A (p.Ser124Asn) c.1845+23G>A (n.1845+23G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.52403161T>A | CA353098043 | BAP1 | c.1867A>T (p.Ser623Cys) c.1813A>T (p.Ser605Cys) n.274A>T c.120-320A>T c.370A>T (p.Ser124Cys) c.1845+22A>T (n.1845+22A>T) | dbSNP |
| 3 | g.52403161T>C | CA353098051 | BAP1 | c.1867A>G (p.Ser623Gly) c.1813A>G (p.Ser605Gly) n.274A>G c.120-320A>G c.370A>G (p.Ser124Gly) c.1845+22A>G (n.1845+22A>G) | |
| 3 | g.52403161T>G | CA353098053 | BAP1 | c.1867A>C (p.Ser623Arg) c.1813A>C (p.Ser605Arg) n.274A>C c.120-320A>C c.370A>C (p.Ser124Arg) c.1845+22A>C (n.1845+22A>C) | |
| 3 | g.52403162C>A | CA353098055 | BAP1 | c.1866G>T (p.Leu622Phe) c.1812G>T (p.Leu604Phe) n.273G>T c.120-321G>T c.369G>T (p.Leu123Phe) c.1845+21G>T (n.1845+21G>T) | dbSNP |
| 3 | g.52403162C>G | CA353098054 | BAP1 | c.1866G>C (p.Leu622Phe) c.1812G>C (p.Leu604Phe) n.273G>C c.120-321G>C c.369G>C (p.Leu123Phe) c.1845+21G>C (n.1845+21G>C) | dbSNP |
| 3 | g.52403162C>T | CA433885815 | BAP1 | c.1866G>A (p.Leu622=) c.1812G>A (p.Leu604=) n.273G>A c.120-321G>A c.369G>A (p.Leu123=) c.1845+21G>A (n.1845+21G>A) | ClinVar dbSNP |
| 3 | g.52403162_52403163del | CA645529889 | BAP1 | c.1865_1866del (p.Leu622Ter) c.1811_1812del (p.Leu604Ter) n.272_273del c.120-322_120-321del c.368_369del (p.Leu123Ter) c.1845+20_1845+21del (n.1845+20_1845+21del) | COSMIC |
| 3 | g.52403162_52403163delinsCA | CA1364835585 | BAP1 | c.1865_1866delinsTG (p.Leu622=) c.1811_1812delinsTG (p.Leu604=) n.272_273delinsTG c.120-322_120-321delinsTG c.368_369delinsTG (p.Leu123=) c.1845+20_1845+21delinsTG (n.1845+20_1845+21delinsTG) | |
| 3 | g.52403163A>C | CA353098056 | BAP1 | c.1865T>G (p.Leu622Trp) c.1811T>G (p.Leu604Trp) n.272T>G c.120-322T>G c.368T>G (p.Leu123Trp) c.1845+20T>G (n.1845+20T>G) | |
| 3 | g.52403163A>G | CA353098060 | BAP1 | c.1865T>C (p.Leu622Ser) c.1811T>C (p.Leu604Ser) n.272T>C c.120-322T>C c.368T>C (p.Leu123Ser) c.1845+20T>C (n.1845+20T>C) | dbSNP gnomAD v4 |
| 3 | g.52403163A>T | CA353098058 | BAP1 | c.1865T>A (p.Leu622Ter) c.1811T>A (p.Leu604Ter) n.272T>A c.120-322T>A c.368T>A (p.Leu123Ter) c.1845+20T>A (n.1845+20T>A) | dbSNP |
| 3 | g.52403164del | CA1364835586 | BAP1 | c.1865del (p.Leu622Ter) c.1811del (p.Leu604Ter) n.272del c.120-322del c.368del (p.Leu123Ter) c.1845+20del (n.1845+20del) | dbSNP |
| 3 | g.52403164A>C | CA353098063 | BAP1 | c.1864T>G (p.Leu622Val) c.1810T>G (p.Leu604Val) n.271T>G c.120-323T>G c.367T>G (p.Leu123Val) c.1845+19T>G (n.1845+19T>G) | |
| 3 | g.52403164A>G | CA433885818 | BAP1 | c.1864T>C (p.Leu622=) c.1810T>C (p.Leu604=) n.271T>C c.120-323T>C c.367T>C (p.Leu123=) c.1845+19T>C (n.1845+19T>C) | dbSNP |
| 3 | g.52403164A>T | CA353098071 | BAP1 | c.1864T>A (p.Leu622Met) c.1810T>A (p.Leu604Met) n.271T>A c.120-323T>A c.367T>A (p.Leu123Met) c.1845+19T>A (n.1845+19T>A) | dbSNP |
| 3 | g.52403164_52403165delinsTA | CA645529890 | BAP1 | c.1863_1864delinsTA (p.Leu622Met) c.1809_1810delinsTA (p.Leu604Met) n.270_271delinsTA c.120-324_120-323delinsTA c.366_367delinsTA (p.Leu123Met) c.1845+18_1845+19delinsTA (n.1845+18_1845+19delinsTA) | COSMIC |
| 3 | g.52403165G>A | CA433885819 | BAP1 | c.1863C>T (p.Pro621=) c.1809C>T (p.Pro603=) n.270C>T c.120-324C>T c.366C>T (p.Pro122=) c.1845+18C>T (n.1845+18C>T) | |
| 3 | g.52403165G>C | CA2436697 | BAP1 | c.1863C>G (p.Pro621=) c.1809C>G (p.Pro603=) n.270C>G c.120-324C>G c.366C>G (p.Pro122=) c.1845+18C>G (n.1845+18C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.52403165G= | CA1364835588 | BAP1 | c.1863C= (p.Pro621=) c.1809C= (p.Pro603=) n.270C= c.120-324C= c.366C= (p.Pro122=) c.1845+18C= (n.1845+18C=) | |
| 3 | g.52403165G>T | CA433885822 | BAP1 | c.1863C>A (p.Pro621=) c.1809C>A (p.Pro603=) n.270C>A c.120-324C>A c.366C>A (p.Pro122=) c.1845+18C>A (n.1845+18C>A) | dbSNP |
| 3 | g.52403166G>A | CA353098075 | BAP1 | c.1862C>T (p.Pro621Leu) c.1808C>T (p.Pro603Leu) n.269C>T c.120-325C>T c.365C>T (p.Pro122Leu) c.1845+17C>T (n.1845+17C>T) | ClinVar dbSNP gnomAD v4 |
| 3 | g.52403166G>C | CA353098076 | BAP1 | c.1862C>G (p.Pro621Arg) c.1808C>G (p.Pro603Arg) n.269C>G c.120-325C>G c.365C>G (p.Pro122Arg) c.1845+17C>G (n.1845+17C>G) | dbSNP |
| 3 | g.52403166G= | CA1364835590 | BAP1 | c.1862C= (p.Pro621=) c.1808C= (p.Pro603=) n.269C= c.120-325C= c.365C= (p.Pro122=) c.1845+17C= (n.1845+17C=) | |
| 3 | g.52403166G>T | CA353098078 | BAP1 | c.1862C>A (p.Pro621His) c.1808C>A (p.Pro603His) n.269C>A c.120-325C>A c.365C>A (p.Pro122His) c.1845+17C>A (n.1845+17C>A) | dbSNP |
| 3 | g.52403167G>A | CA74740309 | BAP1 | c.1861C>T (p.Pro621Ser) c.1807C>T (p.Pro603Ser) n.268C>T c.120-326C>T c.364C>T (p.Pro122Ser) c.1845+16C>T (n.1845+16C>T) | dbSNP |
| 3 | g.52403167G>C | CA353098085 | BAP1 | c.1861C>G (p.Pro621Ala) c.1807C>G (p.Pro603Ala) n.268C>G c.120-326C>G c.364C>G (p.Pro122Ala) c.1845+16C>G (n.1845+16C>G) | dbSNP |
| 3 | g.52403167G= | CA1364835593 | BAP1 | c.1861C= (p.Pro621=) c.1807C= (p.Pro603=) n.268C= c.120-326C= c.364C= (p.Pro122=) c.1845+16C= (n.1845+16C=) | |
| 3 | g.52403167G>T | CA353098088 | BAP1 | c.1861C>A (p.Pro621Thr) c.1807C>A (p.Pro603Thr) n.268C>A c.120-326C>A c.364C>A (p.Pro122Thr) c.1845+16C>A (n.1845+16C>A) | ClinVar dbSNP |
| 3 | g.52403168C>A | CA353098091 | BAP1 | c.1860G>T (p.Glu620Asp) c.1806G>T (p.Glu602Asp) n.267G>T c.120-327G>T c.363G>T (p.Glu121Asp) c.1845+15G>T (n.1845+15G>T) | ClinVar |
| 3 | g.52403168C>G | CA353098093 | BAP1 | c.1860G>C (p.Glu620Asp) c.1806G>C (p.Glu602Asp) n.267G>C c.120-327G>C c.363G>C (p.Glu121Asp) c.1845+15G>C (n.1845+15G>C) | |
| 3 | g.52403168C>T | CA433885827 | BAP1 | c.1860G>A (p.Glu620=) c.1806G>A (p.Glu602=) n.267G>A c.120-327G>A c.363G>A (p.Glu121=) c.1845+15G>A (n.1845+15G>A) | dbSNP gnomAD v4 |
| 3 | g.52403169T>A | CA353098107 | BAP1 | c.1859A>T (p.Glu620Val) c.1805A>T (p.Glu602Val) n.266A>T c.120-328A>T c.362A>T (p.Glu121Val) c.1845+14A>T (n.1845+14A>T) | dbSNP |
| 3 | g.52403169T>C | CA353098102 | BAP1 | c.1859A>G (p.Glu620Gly) c.1805A>G (p.Glu602Gly) n.266A>G c.120-328A>G c.362A>G (p.Glu121Gly) c.1845+14A>G (n.1845+14A>G) | dbSNP |
| 3 | g.52403169T>G | CA353098099 | BAP1 | c.1859A>C (p.Glu620Ala) c.1805A>C (p.Glu602Ala) n.266A>C c.120-328A>C c.362A>C (p.Glu121Ala) c.1845+14A>C (n.1845+14A>C) | |
| 3 | g.52403170C>A | CA353098109 | BAP1 | c.1858G>T (p.Glu620Ter) c.1804G>T (p.Glu602Ter) n.265G>T c.120-329G>T c.361G>T (p.Glu121Ter) c.1845+13G>T (n.1845+13G>T) | dbSNP |
| 3 | g.52403170C= | CA1364835597 | BAP1 | c.1858G= (p.Glu620=) c.1804G= (p.Glu602=) n.265G= c.120-329G= c.361G= (p.Glu121=) c.1845+13G= (n.1845+13G=) | |
| 3 | g.52403170C>G | CA353098112 | BAP1 | c.1858G>C (p.Glu620Gln) c.1804G>C (p.Glu602Gln) n.265G>C c.120-329G>C c.361G>C (p.Glu121Gln) c.1845+13G>C (n.1845+13G>C) | dbSNP |
| 3 | g.52403170C>T | CA2436698 | BAP1 | c.1858G>A (p.Glu620Lys) c.1804G>A (p.Glu602Lys) n.265G>A c.120-329G>A c.361G>A (p.Glu121Lys) c.1845+13G>A (n.1845+13G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.52403171G>A | CA2436699 | BAP1 | c.1857C>T (p.Gly619=) c.1803C>T (p.Gly601=) n.264C>T c.120-330C>T c.360C>T (p.Gly120=) c.1845+12C>T (n.1845+12C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.52403171G>C | CA433885834 | BAP1 | c.1857C>G (p.Gly619=) c.1803C>G (p.Gly601=) n.264C>G c.120-330C>G c.360C>G (p.Gly120=) c.1845+12C>G (n.1845+12C>G) | ClinVar dbSNP |
| 3 | g.52403171G= | CA1364835600 | BAP1 | c.1857C= (p.Gly619=) c.1803C= (p.Gly601=) n.264C= c.120-330C= c.360C= (p.Gly120=) c.1845+12C= (n.1845+12C=) | |
| 3 | g.52403171G>T | CA433885833 | BAP1 | c.1857C>A (p.Gly619=) c.1803C>A (p.Gly601=) n.264C>A c.120-330C>A c.360C>A (p.Gly120=) c.1845+12C>A (n.1845+12C>A) | |
| 3 | g.52403172C>A | CA353098125 | BAP1 | c.1856G>T (p.Gly619Val) c.1802G>T (p.Gly601Val) n.263G>T c.120-331G>T c.359G>T (p.Gly120Val) c.1845+11G>T (n.1845+11G>T) | dbSNP |
| 3 | g.52403172C>G | CA353098128 | BAP1 | c.1856G>C (p.Gly619Ala) c.1802G>C (p.Gly601Ala) n.263G>C c.120-331G>C c.359G>C (p.Gly120Ala) c.1845+11G>C (n.1845+11G>C) | dbSNP gnomAD v4 |
| 3 | g.52403172C>T | CA353098134 | BAP1 | c.1856G>A (p.Gly619Asp) c.1802G>A (p.Gly601Asp) n.263G>A c.120-331G>A c.359G>A (p.Gly120Asp) c.1845+11G>A (n.1845+11G>A) | dbSNP COSMIC |
| 3 | g.52403173C>A | CA353098138 | BAP1 | c.1855G>T (p.Gly619Cys) c.1801G>T (p.Gly601Cys) n.262G>T c.120-332G>T c.358G>T (p.Gly120Cys) c.1845+10G>T (n.1845+10G>T) | dbSNP |
| 3 | g.52403173C>G | CA353098151 | BAP1 | c.1855G>C (p.Gly619Arg) c.1801G>C (p.Gly601Arg) n.262G>C c.120-332G>C c.358G>C (p.Gly120Arg) c.1845+10G>C (n.1845+10G>C) | dbSNP |
| 3 | g.52403173C>T | CA353098152 | BAP1 | c.1855G>A (p.Gly619Ser) c.1801G>A (p.Gly601Ser) n.262G>A c.120-332G>A c.358G>A (p.Gly120Ser) c.1845+10G>A (n.1845+10G>A) | dbSNP |
| 3 | g.52403174A>C | CA433885845 | BAP1 | c.1854T>G (p.Pro618=) c.1800T>G (p.Pro600=) n.261T>G c.120-333T>G c.357T>G (p.Pro119=) c.1845+9T>G (n.1845+9T>G) | |
| 3 | g.52403174A>G | CA433885847 | BAP1 | c.1854T>C (p.Pro618=) c.1800T>C (p.Pro600=) n.261T>C c.120-333T>C c.357T>C (p.Pro119=) c.1845+9T>C (n.1845+9T>C) | dbSNP |
| 3 | g.52403174A>T | CA433885849 | BAP1 | c.1854T>A (p.Pro618=) c.1800T>A (p.Pro600=) n.261T>A c.120-333T>A c.357T>A (p.Pro119=) c.1845+9T>A (n.1845+9T>A) | dbSNP |
| 3 | g.52403174dup | CA2586972731 | BAP1 | c.1854dup (p.Gly619TrpfsTer24) c.1800dup (p.Gly601TrpfsTer24) n.261dup c.120-333dup c.357dup (p.Gly120TrpfsTer?) c.1854dup (p.Gly619TrpfsTer?) c.1845+9dup (n.1845+9dup) c.1800dup (p.Gly601TrpfsTer?) | gnomAD v4 |
| 3 | g.52403175G>A | CA353098156 | BAP1 | c.1853C>T (p.Pro618Leu) c.1799C>T (p.Pro600Leu) n.260C>T c.120-334C>T c.356C>T (p.Pro119Leu) c.1845+8C>T (n.1845+8C>T) | ClinVar dbSNP gnomAD v4 |
| 3 | g.52403175G>C | CA353098160 | BAP1 | c.1853C>G (p.Pro618Arg) c.1799C>G (p.Pro600Arg) n.260C>G c.120-334C>G c.356C>G (p.Pro119Arg) c.1845+8C>G (n.1845+8C>G) | dbSNP |
| 3 | g.52403175G= | CA1364835602 | BAP1 | c.1853C= (p.Pro618=) c.1799C= (p.Pro600=) n.260C= c.120-334C= c.356C= (p.Pro119=) c.1845+8C= (n.1845+8C=) | |
| 3 | g.52403175G>T | CA353098163 | BAP1 | c.1853C>A (p.Pro618His) c.1799C>A (p.Pro600His) n.260C>A c.120-334C>A c.356C>A (p.Pro119His) c.1845+8C>A (n.1845+8C>A) | |
| 3 | g.52403175_52403176insA | CA2586972732 | BAP1 | c.1852_1853insT (p.Pro618LeufsTer25) c.1798_1799insT (p.Pro600LeufsTer25) n.259_260insT c.120-335_120-334insT c.355_356insT (p.Pro119LeufsTer?) c.1852_1853insT (p.Pro618LeufsTer?) c.1845+7_1845+8insT (n.1845+7_1845+8insT) c.1798_1799insT (p.Pro600LeufsTer?) | |
| 3 | g.52403176G>A | CA353098173 | BAP1 | c.1852C>T (p.Pro618Ser) c.1798C>T (p.Pro600Ser) n.259C>T c.120-335C>T c.355C>T (p.Pro119Ser) c.1845+7C>T (n.1845+7C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.52403176G>C | CA16611514 | BAP1 | c.1852C>G (p.Pro618Ala) c.1798C>G (p.Pro600Ala) n.259C>G c.120-335C>G c.355C>G (p.Pro119Ala) c.1845+7C>G (n.1845+7C>G) | ClinVar dbSNP gnomAD v4 |
| 3 | g.52403176G= | CA1364835604 | BAP1 | c.1852C= (p.Pro618=) c.1798C= (p.Pro600=) n.259C= c.120-335C= c.355C= (p.Pro119=) c.1845+7C= (n.1845+7C=) | |
| 3 | g.52403176G>T | CA353098166 | BAP1 | c.1852C>A (p.Pro618Thr) c.1798C>A (p.Pro600Thr) n.259C>A c.120-335C>A c.355C>A (p.Pro119Thr) c.1845+7C>A (n.1845+7C>A) | |
| 3 | g.52403177C>A | CA353098180 | BAP1 | c.1851G>T (p.Arg617Ser) c.1797G>T (p.Arg599Ser) n.258G>T c.120-336G>T c.354G>T (p.Arg118Ser) c.1845+6G>T (n.1845+6G>T) | ClinVar dbSNP |
| 3 | g.52403177C>G | CA353098175 | BAP1 | c.1851G>C (p.Arg617Ser) c.1797G>C (p.Arg599Ser) n.258G>C c.120-336G>C c.354G>C (p.Arg118Ser) c.1845+6G>C (n.1845+6G>C) | dbSNP |
| 3 | g.52403177C>T | CA433885857 | BAP1 | c.1851G>A (p.Arg617=) c.1797G>A (p.Arg599=) n.258G>A c.120-336G>A c.354G>A (p.Arg118=) c.1845+6G>A (n.1845+6G>A) | dbSNP |
| 3 | g.52403178C>A | CA353098183 | BAP1 | c.1850G>T (p.Arg617Met) c.1796G>T (p.Arg599Met) n.257G>T c.120-337G>T c.353G>T (p.Arg118Met) c.1845+5G>T (n.1845+5G>T) | dbSNP |
| 3 | g.52403178C= | CA1364835607 | BAP1 | c.1850G= (p.Arg617=) c.1796G= (p.Arg599=) n.257G= c.120-337G= c.353G= (p.Arg118=) c.1845+5G= (n.1845+5G=) | |
| 3 | g.52403178C>G | CA353098181 | BAP1 | c.1850G>C (p.Arg617Thr) c.1796G>C (p.Arg599Thr) n.257G>C c.120-337G>C c.353G>C (p.Arg118Thr) c.1845+5G>C (n.1845+5G>C) | |
| 3 | g.52403178C>T | CA2436700 | BAP1 | c.1850G>A (p.Arg617Lys) c.1796G>A (p.Arg599Lys) n.257G>A c.120-337G>A c.353G>A (p.Arg118Lys) c.1845+5G>A (n.1845+5G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.52403179T>A | CA353098188 | BAP1 | c.1849A>T (p.Arg617Trp) c.1795A>T (p.Arg599Trp) n.256A>T c.120-338A>T c.352A>T (p.Arg118Trp) c.1845+4A>T (n.1845+4A>T) | dbSNP |
| 3 | g.52403179T>C | CA353098193 | BAP1 | c.1849A>G (p.Arg617Gly) c.1795A>G (p.Arg599Gly) n.256A>G c.120-338A>G c.352A>G (p.Arg118Gly) c.1845+4A>G (n.1845+4A>G) | dbSNP |
| 3 | g.52403179T>G | CA433885863 | BAP1 | c.1849A>C (p.Arg617=) c.1795A>C (p.Arg599=) n.256A>C c.120-338A>C c.352A>C (p.Arg118=) c.1845+4A>C (n.1845+4A>C) | |
| 3 | g.52403180C>A | CA433885865 | BAP1 | c.1848G>T (p.Val616=) c.1794G>T (p.Val598=) n.255G>T c.120-339G>T c.351G>T (p.Val117=) c.1845+3G>T (n.1845+3G>T) | |
| 3 | g.52403180C= | CA1364835609 | BAP1 | c.1848G= (p.Val616=) c.1794G= (p.Val598=) n.255G= c.120-339G= c.351G= (p.Val117=) c.1845+3G= (n.1845+3G=) | |
| 3 | g.52403180C>G | CA433885866 | BAP1 | c.1848G>C (p.Val616=) c.1794G>C (p.Val598=) n.255G>C c.120-339G>C c.351G>C (p.Val117=) c.1845+3G>C (n.1845+3G>C) | dbSNP |
| 3 | g.52403180C>T | CA2436701 | BAP1 | c.1848G>A (p.Val616=) c.1794G>A (p.Val598=) n.255G>A c.120-339G>A c.351G>A (p.Val117=) c.1845+3G>A (n.1845+3G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.52403180_52403189dup | CA2582342857 | BAP1 | c.1839_1848dup (p.Arg617GlyfsTer29) c.1785_1794dup (p.Arg599GlyfsTer29) n.246_255dup c.120-348_120-339dup c.342_351dup (p.Arg118GlyfsTer?) c.1839_1848dup (p.Arg617GlyfsTer?) c.1839_1845+3dup c.1785_1794dup (p.Arg599GlyfsTer?) | ClinVar |
| 3 | g.52403181A= | CA1364835610 | BAP1 | c.1847T= (p.Val616=) c.1793T= (p.Val598=) n.254T= c.120-340T= c.350T= (p.Val117=) c.1845+2T= (n.1845+2T=) | |
| 3 | g.52403181A>C | CA353098196 | BAP1 | c.1847T>G (p.Val616Gly) c.1793T>G (p.Val598Gly) n.254T>G c.120-340T>G c.350T>G (p.Val117Gly) c.1845+2T>G (n.1845+2T>G) | dbSNP |
| 3 | g.52403181A>G | CA353098197 | BAP1 | c.1847T>C (p.Val616Ala) c.1793T>C (p.Val598Ala) n.254T>C c.120-340T>C c.350T>C (p.Val117Ala) c.1845+2T>C (n.1845+2T>C) | gnomAD v4 |
| 3 | g.52403181A>T | CA74740344 | BAP1 | c.1847T>A (p.Val616Glu) c.1793T>A (p.Val598Glu) n.254T>A c.120-340T>A c.350T>A (p.Val117Glu) c.1845+2T>A (n.1845+2T>A) | dbSNP |
| 3 | g.52403182C>A | CA353098206 | BAP1 | c.1846G>T (p.Val616Leu) c.1792G>T (p.Val598Leu) n.253G>T c.120-341G>T c.349G>T (p.Val117Leu) c.1845+1G>T (n.1845+1G>T) | |
| 3 | g.52403182C>G | CA353098204 | BAP1 | c.1846G>C (p.Val616Leu) c.1792G>C (p.Val598Leu) n.253G>C c.120-341G>C c.349G>C (p.Val117Leu) c.1845+1G>C (n.1845+1G>C) | dbSNP |
| 3 | g.52403182C>T | CA353098200 | BAP1 | c.1846G>A (p.Val616Met) c.1792G>A (p.Val598Met) n.253G>A c.120-341G>A c.349G>A (p.Val117Met) c.1845+1G>A (n.1845+1G>A) | ClinVar dbSNP |
| 3 | g.52403183del | CA2586972733 | BAP1 | c.1846del (p.Val616Ter) c.1792del (p.Val598Ter) n.253del c.120-341del c.349del (p.Val117Ter) c.1845+1del | |
| 3 | g.52403183C>A | CA353098207 | BAP1 | c.1845G>T (p.Met615Ile) c.1791G>T (p.Met597Ile) n.252G>T c.120-342G>T c.348G>T (p.Met116Ile) | dbSNP |
| 3 | g.52403183C>G | CA353098208 | BAP1 | c.1845G>C (p.Met615Ile) c.1791G>C (p.Met597Ile) n.252G>C c.120-342G>C c.348G>C (p.Met116Ile) | |
| 3 | g.52403183C>T | CA353098209 | BAP1 | c.1845G>A (p.Met615Ile) c.1791G>A (p.Met597Ile) n.252G>A c.120-342G>A c.348G>A (p.Met116Ile) | ClinVar dbSNP gnomAD v4 |
| 3 | g.52403184A>C | CA353098210 | BAP1 | c.1844T>G (p.Met615Arg) c.1790T>G (p.Met597Arg) n.251T>G c.120-343T>G c.347T>G (p.Met116Arg) | dbSNP |
| 3 | g.52403184A>G | CA353098211 | BAP1 | c.1844T>C (p.Met615Thr) c.1790T>C (p.Met597Thr) n.251T>C c.120-343T>C c.347T>C (p.Met116Thr) | dbSNP |
| 3 | g.52403184A>T | CA353098212 | BAP1 | c.1844T>A (p.Met615Lys) c.1790T>A (p.Met597Lys) n.251T>A c.120-343T>A c.347T>A (p.Met116Lys) | dbSNP |
| 3 | g.52403185T>A | CA353098214 | BAP1 | c.1843A>T (p.Met615Leu) c.1789A>T (p.Met597Leu) n.250A>T c.120-344A>T c.346A>T (p.Met116Leu) | ClinVar dbSNP |
| 3 | g.52403185T>C | CA353098219 | BAP1 | c.1843A>G (p.Met615Val) c.1789A>G (p.Met597Val) n.250A>G c.120-344A>G c.346A>G (p.Met116Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.52403185T>G | CA353098218 | BAP1 | c.1843A>C (p.Met615Leu) c.1789A>C (p.Met597Leu) n.250A>C c.120-344A>C c.346A>C (p.Met116Leu) | |
| 3 | g.52403185T= | CA1364835614 | BAP1 | c.1843A= (p.Met615=) c.1789A= (p.Met597=) n.250A= c.120-344A= c.346A= (p.Met116=) | |
| 3 | g.52403186C>A | CA433885872 | BAP1 | c.1842G>T (p.Gly614=) c.1788G>T (p.Gly596=) n.249G>T c.120-345G>T c.345G>T (p.Gly115=) | dbSNP |
| 3 | g.52403186C= | CA1364835616 | BAP1 | c.1842G= (p.Gly614=) c.1788G= (p.Gly596=) n.249G= c.120-345G= c.345G= (p.Gly115=) | |
| 3 | g.52403186C>G | CA74740349 | BAP1 | c.1842G>C (p.Gly614=) c.1788G>C (p.Gly596=) n.249G>C c.120-345G>C c.345G>C (p.Gly115=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.52403186C>T | CA2436702 | BAP1 | c.1842G>A (p.Gly614=) c.1788G>A (p.Gly596=) n.249G>A c.120-345G>A c.345G>A (p.Gly115=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.52403189del | CA645529891 | BAP1 | c.1842del (p.Met615TrpfsTer2) c.1788del (p.Met597TrpfsTer2) n.249del c.120-345del c.345del (p.Met116TrpfsTer2) c.1842del (p.Met615CysfsTer?) c.1842del (p.Met615TrpfsTer7) | ClinVar COSMIC |
| 3 | g.52403187C>A | CA353098223 | BAP1 | c.1841G>T (p.Gly614Val) c.1787G>T (p.Gly596Val) n.248G>T c.120-346G>T c.344G>T (p.Gly115Val) | dbSNP |
| 3 | g.52403187C>G | CA353098242 | BAP1 | c.1841G>C (p.Gly614Ala) c.1787G>C (p.Gly596Ala) n.248G>C c.120-346G>C c.344G>C (p.Gly115Ala) | |
| 3 | g.52403187C>T | CA353098246 | BAP1 | c.1841G>A (p.Gly614Glu) c.1787G>A (p.Gly596Glu) n.248G>A c.120-346G>A c.344G>A (p.Gly115Glu) | dbSNP |
| 3 | g.52403188C>A | CA353098251 | BAP1 | c.1840G>T (p.Gly614Trp) c.1786G>T (p.Gly596Trp) n.247G>T c.120-347G>T c.343G>T (p.Gly115Trp) | dbSNP |
| 3 | g.52403188C= | CA1364835620 | BAP1 | c.1840G= (p.Gly614=) c.1786G= (p.Gly596=) n.247G= c.120-347G= c.343G= (p.Gly115=) | |
| 3 | g.52403188C>G | CA353098253 | BAP1 | c.1840G>C (p.Gly614Arg) c.1786G>C (p.Gly596Arg) n.247G>C c.120-347G>C c.343G>C (p.Gly115Arg) | dbSNP |
| 3 | g.52403188C>T | CA2436703 | BAP1 | c.1840G>A (p.Gly614Arg) c.1786G>A (p.Gly596Arg) n.247G>A c.120-347G>A c.343G>A (p.Gly115Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.52403189C>A | CA433885878 | BAP1 | c.1839G>T (p.Thr613=) c.1785G>T (p.Thr595=) n.246G>T c.120-348G>T c.342G>T (p.Thr114=) | ClinVar dbSNP |
| 3 | g.52403189C= | CA1364835624 | BAP1 | c.1839G= (p.Thr613=) c.1785G= (p.Thr595=) n.246G= c.120-348G= c.342G= (p.Thr114=) | |
| 3 | g.52403189C>G | CA433885879 | BAP1 | c.1839G>C (p.Thr613=) c.1785G>C (p.Thr595=) n.246G>C c.120-348G>C c.342G>C (p.Thr114=) | ClinVar dbSNP |
| 3 | g.52403189C>T | CA2436704 | BAP1 | c.1839G>A (p.Thr613=) c.1785G>A (p.Thr595=) n.246G>A c.120-348G>A c.342G>A (p.Thr114=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.52403190G>A | CA157256 | BAP1 | c.1838C>T (p.Thr613Met) c.1784C>T (p.Thr595Met) n.245C>T c.120-349C>T c.341C>T (p.Thr114Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.52403190G>C | CA74740358 | BAP1 | c.1838C>G (p.Thr613Arg) c.1784C>G (p.Thr595Arg) n.245C>G c.120-349C>G c.341C>G (p.Thr114Arg) | dbSNP gnomAD v2 |
| 3 | g.52403190G= | CA1364835636 | BAP1 | c.1838C= (p.Thr613=) c.1784C= (p.Thr595=) n.245C= c.120-349C= c.341C= (p.Thr114=) | |
| 3 | g.52403190G>T | CA353098263 | BAP1 | c.1838C>A (p.Thr613Lys) c.1784C>A (p.Thr595Lys) n.245C>A c.120-349C>A c.341C>A (p.Thr114Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.52403191T>A | CA353098266 | BAP1 | c.1837A>T (p.Thr613Ser) c.1783A>T (p.Thr595Ser) n.244A>T c.120-350A>T c.340A>T (p.Thr114Ser) | dbSNP |
| 3 | g.52403191T>C | CA2436705 | BAP1 | c.1837A>G (p.Thr613Ala) c.1783A>G (p.Thr595Ala) n.244A>G c.120-350A>G c.340A>G (p.Thr114Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.52403191T>G | CA353098273 | BAP1 | c.1837A>C (p.Thr613Pro) c.1783A>C (p.Thr595Pro) n.244A>C c.120-350A>C c.340A>C (p.Thr114Pro) | ClinVar dbSNP |
| 3 | g.52403191T= | CA1364835645 | BAP1 | c.1837A= (p.Thr613=) c.1783A= (p.Thr595=) n.244A= c.120-350A= c.340A= (p.Thr114=) | |
| 3 | g.52403192C>A | CA353098280 | BAP1 | c.1836G>T (p.Lys612Asn) c.1782G>T (p.Lys594Asn) n.243G>T c.120-351G>T c.339G>T (p.Lys113Asn) | |
| 3 | g.52403192C= | CA1364835656 | BAP1 | c.1836G= (p.Lys612=) c.1782G= (p.Lys594=) n.243G= c.120-351G= c.339G= (p.Lys113=) | |
| 3 | g.52403192C>G | CA353098283 | BAP1 | c.1836G>C (p.Lys612Asn) c.1782G>C (p.Lys594Asn) n.243G>C c.120-351G>C c.339G>C (p.Lys113Asn) | ClinVar dbSNP |
| 3 | g.52403192C>T | CA433885882 | BAP1 | c.1836G>A (p.Lys612=) c.1782G>A (p.Lys594=) n.243G>A c.120-351G>A c.339G>A (p.Lys113=) | |
| 3 | g.52403192_52403193delinsCT | CA1364835659 | BAP1 | c.1835_1836delinsAG (p.Lys612=) c.1781_1782delinsAG (p.Lys594=) n.242_243delinsAG c.120-352_120-351delinsAG c.338_339delinsAG (p.Lys113=) | |
| 3 | g.52403193T>A | CA353098285 | BAP1 | c.1835A>T (p.Lys612Met) c.1781A>T (p.Lys594Met) n.242A>T c.120-352A>T c.338A>T (p.Lys113Met) | |
| 3 | g.52403193T>C | CA353098287 | BAP1 | c.1835A>G (p.Lys612Arg) c.1781A>G (p.Lys594Arg) n.242A>G c.120-352A>G c.338A>G (p.Lys113Arg) | |
| 3 | g.52403193T>G | CA353098289 | BAP1 | c.1835A>C (p.Lys612Thr) c.1781A>C (p.Lys594Thr) n.242A>C c.120-352A>C c.338A>C (p.Lys113Thr) | |
| 3 | g.52403194del | CA16611329 | BAP1 | c.1835del (p.Lys612ArgfsTer5) c.1781del (p.Lys594ArgfsTer5) n.242del c.120-352del c.338del (p.Lys113ArgfsTer5) c.1835del (p.Lys612ArgfsTer?) c.1835del (p.Lys612ArgfsTer10) | ClinVar dbSNP |
| 3 | g.52403193_52403197delinsTTCTC | CA1364835663 | BAP1 | c.1831_1835delinsGAGAA (p.Glu611=) c.1777_1781delinsGAGAA (p.Glu593=) n.238_242delinsGAGAA c.120-356_120-352delinsGAGAA c.334_338delinsGAGAA (p.Glu112=) | |
| 3 | g.52403194T>A | CA353098292 | BAP1 | c.1834A>T (p.Lys612Ter) c.1780A>T (p.Lys594Ter) n.241A>T c.120-353A>T c.337A>T (p.Lys113Ter) | |
| 3 | g.52403194T>C | CA353098311 | BAP1 | c.1834A>G (p.Lys612Glu) c.1780A>G (p.Lys594Glu) n.241A>G c.120-353A>G c.337A>G (p.Lys113Glu) | |
| 3 | g.52403194T>G | CA353098322 | BAP1 | c.1834A>C (p.Lys612Gln) c.1780A>C (p.Lys594Gln) n.241A>C c.120-353A>C c.337A>C (p.Lys113Gln) | |
| 3 | g.52403199_52403200dup | CA2580616480 | BAP1 | c.1833_1834dup (p.Lys612ArgfsTer6) c.1779_1780dup (p.Lys594ArgfsTer6) n.240_241dup c.120-354_120-353dup c.336_337dup (p.Lys113ArgfsTer6) c.1833_1834dup (p.Lys612ArgfsTer?) c.1833_1834dup (p.Lys612ArgfsTer11) | ClinVar |
| 3 | g.52403199_52403200del | CA2580616481 | BAP1 | c.1833_1834del (p.Lys612AspfsTer?) c.1779_1780del (p.Lys594AspfsTer?) n.240_241del c.120-354_120-353del c.336_337del (p.Lys113AspfsTer?) c.1833_1834del (p.Lys612AspfsTer15) | ClinVar dbSNP |
| 3 | g.52403197_52403200del | CA645529892 | BAP1 | c.1831_1834del (p.Glu611ArgfsTer5) c.1777_1780del (p.Glu593ArgfsTer5) n.238_241del c.120-356_120-353del c.334_337del (p.Glu112ArgfsTer5) c.1831_1834del (p.Glu611ArgfsTer?) c.1831_1834del (p.Glu611ArgfsTer10) | ClinVar dbSNP COSMIC |
| 3 | g.52403195C>A | CA353098334 | BAP1 | c.1833G>T (p.Glu611Asp) c.1779G>T (p.Glu593Asp) n.240G>T c.120-354G>T c.336G>T (p.Glu112Asp) | |
| 3 | g.52403195C= | CA1364835670 | BAP1 | c.1833G= (p.Glu611=) c.1779G= (p.Glu593=) n.240G= c.120-354G= c.336G= (p.Glu112=) | |
| 3 | g.52403195C>G | CA2436706 | BAP1 | c.1833G>C (p.Glu611Asp) c.1779G>C (p.Glu593Asp) n.240G>C c.120-354G>C c.336G>C (p.Glu112Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.52403195C>T | CA433885888 | BAP1 | c.1833G>A (p.Glu611=) c.1779G>A (p.Glu593=) n.240G>A c.120-354G>A c.336G>A (p.Glu112=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.52403196T>A | CA353098346 | BAP1 | c.1832A>T (p.Glu611Val) c.1778A>T (p.Glu593Val) n.239A>T c.120-355A>T c.335A>T (p.Glu112Val) | |
| 3 | g.52403196T>C | CA353098349 | BAP1 | c.1832A>G (p.Glu611Gly) c.1778A>G (p.Glu593Gly) n.239A>G c.120-355A>G c.335A>G (p.Glu112Gly) | dbSNP |
| 3 | g.52403196T>G | CA353098351 | BAP1 | c.1832A>C (p.Glu611Ala) c.1778A>C (p.Glu593Ala) n.239A>C c.120-355A>C c.335A>C (p.Glu112Ala) | |
| 3 | g.52403197C>A | CA353098365 | BAP1 | c.1831G>T (p.Glu611Ter) c.1777G>T (p.Glu593Ter) n.238G>T c.120-356G>T c.334G>T (p.Glu112Ter) | |
| 3 | g.52403197C>G | CA353098374 | BAP1 | c.1831G>C (p.Glu611Gln) c.1777G>C (p.Glu593Gln) n.238G>C c.120-356G>C c.334G>C (p.Glu112Gln) | dbSNP |
| 3 | g.52403197C>T | CA353098372 | BAP1 | c.1831G>A (p.Glu611Lys) c.1777G>A (p.Glu593Lys) n.238G>A c.120-356G>A c.334G>A (p.Glu112Lys) | dbSNP |
| 3 | g.52403198T>A | CA353098381 | BAP1 | c.1830A>T (p.Arg610Ser) c.1776A>T (p.Arg592Ser) n.237A>T c.120-357A>T c.333A>T (p.Arg111Ser) | dbSNP |
| 3 | g.52403198T>C | CA433885896 | BAP1 | c.1830A>G (p.Arg610=) c.1776A>G (p.Arg592=) n.237A>G c.120-357A>G c.333A>G (p.Arg111=) | ClinVar dbSNP |
| 3 | g.52403198T>G | CA353098382 | BAP1 | c.1830A>C (p.Arg610Ser) c.1776A>C (p.Arg592Ser) n.237A>C c.120-357A>C c.333A>C (p.Arg111Ser) | |
| 3 | g.52403198T= | CA1364835679 | BAP1 | c.1830A= (p.Arg610=) c.1776A= (p.Arg592=) n.237A= c.120-357A= c.333A= (p.Arg111=) | |
| 3 | g.52403199C>A | CA353098385 | BAP1 | c.1829G>T (p.Arg610Ile) c.1775G>T (p.Arg592Ile) n.236G>T c.120-358G>T c.332G>T (p.Arg111Ile) | dbSNP |
| 3 | g.52403199C>G | CA353098389 | BAP1 | c.1829G>C (p.Arg610Thr) c.1775G>C (p.Arg592Thr) n.236G>C c.120-358G>C c.332G>C (p.Arg111Thr) | dbSNP |
| 3 | g.52403199C>T | CA353098391 | BAP1 | c.1829G>A (p.Arg610Lys) c.1775G>A (p.Arg592Lys) n.236G>A c.120-358G>A c.332G>A (p.Arg111Lys) | dbSNP |
| 3 | g.52403200T>A | CA353098393 | BAP1 | c.1828A>T (p.Arg610Ter) c.1774A>T (p.Arg592Ter) n.235A>T c.120-359A>T c.331A>T (p.Arg111Ter) | dbSNP COSMIC |
| 3 | g.52403200T>C | CA353098395 | BAP1 | c.1828A>G (p.Arg610Gly) c.1774A>G (p.Arg592Gly) n.235A>G c.120-359A>G c.331A>G (p.Arg111Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.52403200T>G | CA433885903 | BAP1 | c.1828A>C (p.Arg610=) c.1774A>C (p.Arg592=) n.235A>C c.120-359A>C c.331A>C (p.Arg111=) | |
| 3 | g.52403200T= | CA1364835683 | BAP1 | c.1828A= (p.Arg610=) c.1774A= (p.Arg592=) n.235A= c.120-359A= c.331A= (p.Arg111=) | |
| 3 | g.52403201G>A | CA2436707 | BAP1 | c.1827C>T (p.Ser609=) c.1773C>T (p.Ser591=) n.234C>T c.120-360C>T c.330C>T (p.Ser110=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.52403201G>C | CA353098402 | BAP1 | c.1827C>G (p.Ser609Arg) c.1773C>G (p.Ser591Arg) n.234C>G c.120-360C>G c.330C>G (p.Ser110Arg) | dbSNP |
| 3 | g.52403201G= | CA1364835691 | BAP1 | c.1827C= (p.Ser609=) c.1773C= (p.Ser591=) n.234C= c.120-360C= c.330C= (p.Ser110=) | |
| 3 | g.52403201G>T | CA353098406 | BAP1 | c.1827C>A (p.Ser609Arg) c.1773C>A (p.Ser591Arg) n.234C>A c.120-360C>A c.330C>A (p.Ser110Arg) | |
| 3 | g.52403202C>A | CA353098417 | BAP1 | c.1826G>T (p.Ser609Ile) c.1772G>T (p.Ser591Ile) n.233G>T c.120-361G>T c.329G>T (p.Ser110Ile) | |
| 3 | g.52403202C>G | CA353098419 | BAP1 | c.1826G>C (p.Ser609Thr) c.1772G>C (p.Ser591Thr) n.233G>C c.120-361G>C c.329G>C (p.Ser110Thr) | dbSNP |
| 3 | g.52403202C>T | CA353098413 | BAP1 | c.1826G>A (p.Ser609Asn) c.1772G>A (p.Ser591Asn) n.233G>A c.120-361G>A c.329G>A (p.Ser110Asn) | ClinVar dbSNP gnomAD v4 |
| 3 | g.52403203T>A | CA353098451 | BAP1 | c.1825A>T (p.Ser609Cys) c.1771A>T (p.Ser591Cys) n.232A>T c.120-362A>T c.328A>T (p.Ser110Cys) | dbSNP |
| 3 | g.52403203T>C | CA353098423 | BAP1 | c.1825A>G (p.Ser609Gly) c.1771A>G (p.Ser591Gly) n.232A>G c.120-362A>G c.328A>G (p.Ser110Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.52403203T>G | CA353098449 | BAP1 | c.1825A>C (p.Ser609Arg) c.1771A>C (p.Ser591Arg) n.232A>C c.120-362A>C c.328A>C (p.Ser110Arg) | dbSNP |
| 3 | g.52403203T= | CA1364835698 | BAP1 | c.1825A= (p.Ser609=) c.1771A= (p.Ser591=) n.232A= c.120-362A= c.328A= (p.Ser110=) | |
| 3 | g.52403204G>A | CA433885907 | BAP1 | c.1824C>T (p.Asp608=) c.1770C>T (p.Asp590=) n.231C>T c.120-363C>T c.327C>T (p.Asp109=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.52403204G>C | CA353098454 | BAP1 | c.1824C>G (p.Asp608Glu) c.1770C>G (p.Asp590Glu) n.231C>G c.120-363C>G c.327C>G (p.Asp109Glu) | dbSNP |
| 3 | g.52403204G= | CA1364835704 | BAP1 | c.1824C= (p.Asp608=) c.1770C= (p.Asp590=) n.231C= c.120-363C= c.327C= (p.Asp109=) | |
| 3 | g.52403204G>T | CA353098458 | BAP1 | c.1824C>A (p.Asp608Glu) c.1770C>A (p.Asp590Glu) n.231C>A c.120-363C>A c.327C>A (p.Asp109Glu) | |
| 3 | g.52403205T>A | CA353098464 | BAP1 | c.1823A>T (p.Asp608Val) c.1769A>T (p.Asp590Val) n.230A>T c.120-364A>T c.326A>T (p.Asp109Val) | |
| 3 | g.52403205T>C | CA353098478 | BAP1 | c.1823A>G (p.Asp608Gly) c.1769A>G (p.Asp590Gly) n.230A>G c.120-364A>G c.326A>G (p.Asp109Gly) | dbSNP |
| 3 | g.52403205T>G | CA353098481 | BAP1 | c.1823A>C (p.Asp608Ala) c.1769A>C (p.Asp590Ala) n.230A>C c.120-364A>C c.326A>C (p.Asp109Ala) | |
| 3 | g.52403205T= | CA1364835710 | BAP1 | c.1823A= (p.Asp608=) c.1769A= (p.Asp590=) n.230A= c.120-364A= c.326A= (p.Asp109=) | |
| 3 | g.52403206C>A | CA353098490 | BAP1 | c.1822G>T (p.Asp608Tyr) c.1768G>T (p.Asp590Tyr) n.229G>T c.120-365G>T c.325G>T (p.Asp109Tyr) | dbSNP |
| 3 | g.52403206C>G | CA353098512 | BAP1 | c.1822G>C (p.Asp608His) c.1768G>C (p.Asp590His) n.229G>C c.120-365G>C c.325G>C (p.Asp109His) | dbSNP |
| 3 | g.52403206C>T | CA353098508 | BAP1 | c.1822G>A (p.Asp608Asn) c.1768G>A (p.Asp590Asn) n.229G>A c.120-365G>A c.325G>A (p.Asp109Asn) | dbSNP |
| 3 | g.52403207C>A | CA433885911 | BAP1 | c.1821G>T (p.Thr607=) c.1767G>T (p.Thr589=) n.228G>T c.120-366G>T c.324G>T (p.Thr108=) | dbSNP |
| 3 | g.52403207C= | CA1364835720 | BAP1 | c.1821G= (p.Thr607=) c.1767G= (p.Thr589=) n.228G= c.120-366G= c.324G= (p.Thr108=) | |
| 3 | g.52403207C>G | CA433885913 | BAP1 | c.1821G>C (p.Thr607=) c.1767G>C (p.Thr589=) n.228G>C c.120-366G>C c.324G>C (p.Thr108=) | dbSNP |
| 3 | g.52403207C>T | CA2436708 | BAP1 | c.1821G>A (p.Thr607=) c.1767G>A (p.Thr589=) n.228G>A c.120-366G>A c.324G>A (p.Thr108=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.52403208G>A | CA2436709 | BAP1 | c.1820C>T (p.Thr607Met) c.1766C>T (p.Thr589Met) n.227C>T c.120-367C>T c.323C>T (p.Thr108Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.52403208G>C | CA353098517 | BAP1 | c.1820C>G (p.Thr607Arg) c.1766C>G (p.Thr589Arg) n.227C>G c.120-367C>G c.323C>G (p.Thr108Arg) | dbSNP |
| 3 | g.52403208G= | CA1364835726 | BAP1 | c.1820C= (p.Thr607=) c.1766C= (p.Thr589=) n.227C= c.120-367C= c.323C= (p.Thr108=) | |
| 3 | g.52403208G>T | CA353098531 | BAP1 | c.1820C>A (p.Thr607Lys) c.1766C>A (p.Thr589Lys) n.227C>A c.120-367C>A c.323C>A (p.Thr108Lys) | gnomAD v4 |
| 3 | g.52403209del | CA2586972734 | BAP1 | c.1819del (p.Thr607ArgfsTer10) c.1765del (p.Thr589ArgfsTer10) n.226del c.120-368del c.322del (p.Thr108ArgfsTer10) c.1819del (p.Thr607ArgfsTer?) c.1819del (p.Thr607ArgfsTer15) | |
| 3 | g.52403209T>A | CA353098536 | BAP1 | c.1819A>T (p.Thr607Ser) c.1765A>T (p.Thr589Ser) n.226A>T c.120-368A>T c.322A>T (p.Thr108Ser) | dbSNP |
| 3 | g.52403209T>C | CA353098557 | BAP1 | c.1819A>G (p.Thr607Ala) c.1765A>G (p.Thr589Ala) n.226A>G c.120-368A>G c.322A>G (p.Thr108Ala) | dbSNP gnomAD v4 |
| 3 | g.52403209T>G | CA353098556 | BAP1 | c.1819A>C (p.Thr607Pro) c.1765A>C (p.Thr589Pro) n.226A>C c.120-368A>C c.322A>C (p.Thr108Pro) | dbSNP gnomAD v4 |
| 3 | g.52403210G>A | CA433885922 | BAP1 | c.1818C>T (p.Ala606=) c.1764C>T (p.Ala588=) n.225C>T c.120-369C>T c.321C>T (p.Ala107=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.52403210G>C | CA433885915 | BAP1 | c.1818C>G (p.Ala606=) c.1764C>G (p.Ala588=) n.225C>G c.120-369C>G c.321C>G (p.Ala107=) | |
| 3 | g.52403210G= | CA1364835734 | BAP1 | c.1818C= (p.Ala606=) c.1764C= (p.Ala588=) n.225C= c.120-369C= c.321C= (p.Ala107=) | |
| 3 | g.52403210G>T | CA433885917 | BAP1 | c.1818C>A (p.Ala606=) c.1764C>A (p.Ala588=) n.225C>A c.120-369C>A c.321C>A (p.Ala107=) | dbSNP |
| 3 | g.52403211G>A | CA353098558 | BAP1 | c.1817C>T (p.Ala606Val) c.1763C>T (p.Ala588Val) n.224C>T c.120-370C>T c.320C>T (p.Ala107Val) | dbSNP |
| 3 | g.52403211G>C | CA353098559 | BAP1 | c.1817C>G (p.Ala606Gly) c.1763C>G (p.Ala588Gly) n.224C>G c.120-370C>G c.320C>G (p.Ala107Gly) | dbSNP |
| 3 | g.52403211G= | CA1364835738 | BAP1 | c.1817C= (p.Ala606=) c.1763C= (p.Ala588=) n.224C= c.120-370C= c.320C= (p.Ala107=) | |
| 3 | g.52403211G>T | CA353098560 | BAP1 | c.1817C>A (p.Ala606Asp) c.1763C>A (p.Ala588Asp) n.224C>A c.120-370C>A c.320C>A (p.Ala107Asp) | dbSNP COSMIC |
| 3 | g.52403212C>A | CA353098561 | BAP1 | c.1816G>T (p.Ala606Ser) c.1762G>T (p.Ala588Ser) n.223G>T c.120-371G>T c.319G>T (p.Ala107Ser) | dbSNP |
| 3 | g.52403212C>G | CA353098563 | BAP1 | c.1816G>C (p.Ala606Pro) c.1762G>C (p.Ala588Pro) n.223G>C c.120-371G>C c.319G>C (p.Ala107Pro) | ClinVar dbSNP |
| 3 | g.52403212C>T | CA353098565 | BAP1 | c.1816G>A (p.Ala606Thr) c.1762G>A (p.Ala588Thr) n.223G>A c.120-371G>A c.319G>A (p.Ala107Thr) | ClinVar dbSNP |
| 3 | g.52403213T>A | CA353098567 | BAP1 | c.1815A>T (p.Glu605Asp) c.1761A>T (p.Glu587Asp) n.222A>T c.120-372A>T c.318A>T (p.Glu106Asp) | |
| 3 | g.52403213T>C | CA433885923 | BAP1 | c.1815A>G (p.Glu605=) c.1761A>G (p.Glu587=) n.222A>G c.120-372A>G c.318A>G (p.Glu106=) | dbSNP |
| 3 | g.52403213T>G | CA353098582 | BAP1 | c.1815A>C (p.Glu605Asp) c.1761A>C (p.Glu587Asp) n.222A>C c.120-372A>C c.318A>C (p.Glu106Asp) | |
| 3 | g.52403214T>A | CA353098588 | BAP1 | c.1814A>T (p.Glu605Val) c.1760A>T (p.Glu587Val) n.221A>T c.120-373A>T c.317A>T (p.Glu106Val) | |
| 3 | g.52403214T>C | CA353098590 | BAP1 | c.1814A>G (p.Glu605Gly) c.1760A>G (p.Glu587Gly) n.221A>G c.120-373A>G c.317A>G (p.Glu106Gly) | ClinVar dbSNP |
| 3 | g.52403214T>G | CA353098595 | BAP1 | c.1814A>C (p.Glu605Ala) c.1760A>C (p.Glu587Ala) n.221A>C c.120-373A>C c.317A>C (p.Glu106Ala) | |
| 3 | g.52403214T= | CA1364835742 | BAP1 | c.1814A= (p.Glu605=) c.1760A= (p.Glu587=) n.221A= c.120-373A= c.317A= (p.Glu106=) | |
| 3 | g.52403215C>A | CA353098612 | BAP1 | c.1813G>T (p.Glu605Ter) c.1759G>T (p.Glu587Ter) n.220G>T c.120-374G>T c.316G>T (p.Glu106Ter) | |
| 3 | g.52403215C>G | CA353098609 | BAP1 | c.1813G>C (p.Glu605Gln) c.1759G>C (p.Glu587Gln) n.220G>C c.120-374G>C c.316G>C (p.Glu106Gln) | dbSNP |
| 3 | g.52403215C>T | CA353098599 | BAP1 | c.1813G>A (p.Glu605Lys) c.1759G>A (p.Glu587Lys) n.220G>A c.120-374G>A c.316G>A (p.Glu106Lys) | dbSNP |
| 3 | g.52403216del | CA2695197912 | BAP1 | c.1813del (p.Glu605LysfsTer12) c.1759del (p.Glu587LysfsTer12) n.220del c.120-374del c.316del (p.Glu106LysfsTer12) c.1813del (p.Glu605LysfsTer?) c.1813del (p.Glu605LysfsTer17) | ClinVar |
| 3 | g.52403216C>A | CA433885930 | BAP1 | c.1812G>T (p.Val604=) c.1758G>T (p.Val586=) n.219G>T c.120-375G>T c.315G>T (p.Val105=) | ClinVar |
| 3 | g.52403216C>G | CA433885931 | BAP1 | c.1812G>C (p.Val604=) c.1758G>C (p.Val586=) n.219G>C c.120-375G>C c.315G>C (p.Val105=) | dbSNP |
| 3 | g.52403216C>T | CA433885932 | BAP1 | c.1812G>A (p.Val604=) c.1758G>A (p.Val586=) n.219G>A c.120-375G>A c.315G>A (p.Val105=) | dbSNP gnomAD v4 |
| 3 | g.52403217A= | CA1364835745 | BAP1 | c.1811T= (p.Val604=) c.1757T= (p.Val586=) n.218T= c.120-376T= c.314T= (p.Val105=) | |
| 3 | g.52403217A>C | CA353098616 | BAP1 | c.1811T>G (p.Val604Gly) c.1757T>G (p.Val586Gly) n.218T>G c.120-376T>G c.314T>G (p.Val105Gly) | dbSNP |
| 3 | g.52403217A>G | CA353098620 | BAP1 | c.1811T>C (p.Val604Ala) c.1757T>C (p.Val586Ala) n.218T>C c.120-376T>C c.314T>C (p.Val105Ala) | ClinVar |
| 3 | g.52403217A>T | CA353098622 | BAP1 | c.1811T>A (p.Val604Glu) c.1757T>A (p.Val586Glu) n.218T>A c.120-376T>A c.314T>A (p.Val105Glu) | |
| 3 | g.52403218C>A | CA353098625 | BAP1 | c.1810G>T (p.Val604Leu) c.1756G>T (p.Val586Leu) n.217G>T c.120-377G>T c.313G>T (p.Val105Leu) | ClinVar dbSNP gnomAD v4 |
| 3 | g.52403218C= | CA1364835753 | BAP1 | c.1810G= (p.Val604=) c.1756G= (p.Val586=) n.217G= c.120-377G= c.313G= (p.Val105=) | |
| 3 | g.52403218C>G | CA353098631 | BAP1 | c.1810G>C (p.Val604Leu) c.1756G>C (p.Val586Leu) n.217G>C c.120-377G>C c.313G>C (p.Val105Leu) | dbSNP |
| 3 | g.52403218C>T | CA2436710 | BAP1 | c.1810G>A (p.Val604Met) c.1756G>A (p.Val586Met) n.217G>A c.120-377G>A c.313G>A (p.Val105Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.52403219G>A | CA433885933 | BAP1 | c.1809C>T (p.Val603=) c.1755C>T (p.Val585=) n.216C>T c.120-378C>T c.312C>T (p.Val104=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.52403219G>C | CA433885934 | BAP1 | c.1809C>G (p.Val603=) c.1755C>G (p.Val585=) n.216C>G c.120-378C>G c.312C>G (p.Val104=) | dbSNP gnomAD v4 |
| 3 | g.52403219G= | CA1364835765 | BAP1 | c.1809C= (p.Val603=) c.1755C= (p.Val585=) n.216C= c.120-378C= c.312C= (p.Val104=) | |
| 3 | g.52403219G>T | CA433885935 | BAP1 | c.1809C>A (p.Val603=) c.1755C>A (p.Val585=) n.216C>A c.120-378C>A c.312C>A (p.Val104=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.52403220A= | CA1364835771 | BAP1 | c.1808T= (p.Val603=) c.1754T= (p.Val585=) n.215T= c.120-379T= c.311T= (p.Val104=) | |
| 3 | g.52403220A>C | CA353098651 | BAP1 | c.1808T>G (p.Val603Gly) c.1754T>G (p.Val585Gly) n.215T>G c.120-379T>G c.311T>G (p.Val104Gly) | dbSNP |
| 3 | g.52403220A>G | CA353098656 | BAP1 | c.1808T>C (p.Val603Ala) c.1754T>C (p.Val585Ala) n.215T>C c.120-379T>C c.311T>C (p.Val104Ala) | ClinVar dbSNP |
| 3 | g.52403220A>T | CA353098658 | BAP1 | c.1808T>A (p.Val603Asp) c.1754T>A (p.Val585Asp) n.215T>A c.120-379T>A c.311T>A (p.Val104Asp) | dbSNP |
| 3 | g.52403221C>A | CA353098673 | BAP1 | c.1807G>T (p.Val603Phe) c.1753G>T (p.Val585Phe) n.214G>T c.120-380G>T c.310G>T (p.Val104Phe) | ClinVar dbSNP |
| 3 | g.52403221C= | CA1364835780 | BAP1 | c.1807G= (p.Val603=) c.1753G= (p.Val585=) n.214G= c.120-380G= c.310G= (p.Val104=) | |
| 3 | g.52403221C>G | CA353098677 | BAP1 | c.1807G>C (p.Val603Leu) c.1753G>C (p.Val585Leu) n.214G>C c.120-380G>C c.310G>C (p.Val104Leu) | ClinVar dbSNP gnomAD v4 |
| 3 | g.52403221C>T | CA353098683 | BAP1 | c.1807G>A (p.Val603Ile) c.1753G>A (p.Val585Ile) n.214G>A c.120-380G>A c.310G>A (p.Val104Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.52403224_52403226del | CA433885941 | BAP1 | c.1805_1807del (p.Glu602del) c.1751_1753del (p.Glu584del) n.212_214del c.120-382_120-380del c.308_310del (p.Glu103del) | ClinVar dbSNP gnomAD v4 |
| 3 | g.52403222_52403241del | CA645529893 | BAP1 | c.1788_1807del (p.Ser597ArgfsTer?) c.1734_1753del (p.Ser579ArgfsTer?) n.195_214del c.120-399_120-380del c.291_310del (p.Ser98ArgfsTer?) c.1788_1807del (p.Ser597ArgfsTer24) | COSMIC |
| 3 | g.52403222C>A | CA353098688 | BAP1 | c.1806G>T (p.Glu602Asp) c.1752G>T (p.Glu584Asp) n.213G>T c.120-381G>T c.309G>T (p.Glu103Asp) | |
| 3 | g.52403222C= | CA1364835784 | BAP1 | c.1806G= (p.Glu602=) c.1752G= (p.Glu584=) n.213G= c.120-381G= c.309G= (p.Glu103=) | |
| 3 | g.52403222C>G | CA353098691 | BAP1 | c.1806G>C (p.Glu602Asp) c.1752G>C (p.Glu584Asp) n.213G>C c.120-381G>C c.309G>C (p.Glu103Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.52403222C>T | CA2436711 | BAP1 | c.1806G>A (p.Glu602=) c.1752G>A (p.Glu584=) n.213G>A c.120-381G>A c.309G>A (p.Glu103=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.52403223T>A | CA2436712 | BAP1 | c.1805A>T (p.Glu602Val) c.1751A>T (p.Glu584Val) n.212A>T c.120-382A>T c.308A>T (p.Glu103Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.52403223T>C | CA353098693 | BAP1 | c.1805A>G (p.Glu602Gly) c.1751A>G (p.Glu584Gly) n.212A>G c.120-382A>G c.308A>G (p.Glu103Gly) | ClinVar dbSNP |
| 3 | g.52403223T>G | CA353098696 | BAP1 | c.1805A>C (p.Glu602Ala) c.1751A>C (p.Glu584Ala) n.212A>C c.120-382A>C c.308A>C (p.Glu103Ala) | |
| 3 | g.52403223T= | CA1364835795 | BAP1 | c.1805A= (p.Glu602=) c.1751A= (p.Glu584=) n.212A= c.120-382A= c.308A= (p.Glu103=) | |
| 3 | g.52403223_52403227delinsACCTC | CA16611330 | BAP1 | c.1801_1805delinsGAGGT (p.Lys601_Glu602delinsGluVal) c.1747_1751delinsGAGGT (p.Lys583_Glu584delinsGluVal) n.208_212delinsGAGGT c.120-386_120-382delinsGAGGT c.304_308delinsGAGGT (p.Lys102_Glu103delinsGluVal) | ClinVar dbSNP |
| 3 | g.52403223_52403227delinsTCCTT | CA1364835801 | BAP1 | c.1801_1805delinsAAGGA (p.Lys601=) c.1747_1751delinsAAGGA (p.Lys583=) n.208_212delinsAAGGA c.120-386_120-382delinsAAGGA c.304_308delinsAAGGA (p.Lys102=) | |
| 3 | g.52403224C>A | CA353098701 | BAP1 | c.1804G>T (p.Glu602Ter) c.1750G>T (p.Glu584Ter) n.211G>T c.120-383G>T c.307G>T (p.Glu103Ter) | |
| 3 | g.52403224C>G | CA353098714 | BAP1 | c.1804G>C (p.Glu602Gln) c.1750G>C (p.Glu584Gln) n.211G>C c.120-383G>C c.307G>C (p.Glu103Gln) | dbSNP gnomAD v4 |
| 3 | g.52403224C>T | CA353098717 | BAP1 | c.1804G>A (p.Glu602Lys) c.1750G>A (p.Glu584Lys) n.211G>A c.120-383G>A c.307G>A (p.Glu103Lys) | dbSNP |
| 3 | g.52403225del | CA645529894 | BAP1 | c.1804del (p.Glu602ArgfsTer15) c.1750del (p.Glu584ArgfsTer15) n.211del c.120-383del c.307del (p.Glu103ArgfsTer15) c.1804del (p.Glu602ArgfsTer?) c.1804del (p.Glu602ArgfsTer20) | COSMIC |
| 3 | g.52403224_52403227delinsCCTT | CA1364835810 | BAP1 | c.1801_1804delinsAAGG (p.Lys601=) c.1747_1750delinsAAGG (p.Lys583=) n.208_211delinsAAGG c.120-386_120-383delinsAAGG c.304_307delinsAAGG (p.Lys102=) | |
| 3 | g.52403225C>A | CA353098718 | BAP1 | c.1803G>T (p.Lys601Asn) c.1749G>T (p.Lys583Asn) n.210G>T c.120-384G>T c.306G>T (p.Lys102Asn) | ClinVar |
| 3 | g.52403225C= | CA1364835813 | BAP1 | c.1803G= (p.Lys601=) c.1749G= (p.Lys583=) n.210G= c.120-384G= c.306G= (p.Lys102=) | |
| 3 | g.52403225C>G | CA353098719 | BAP1 | c.1803G>C (p.Lys601Asn) c.1749G>C (p.Lys583Asn) n.210G>C c.120-384G>C c.306G>C (p.Lys102Asn) | |
| 3 | g.52403225C>T | CA433885946 | BAP1 | c.1803G>A (p.Lys601=) c.1749G>A (p.Lys583=) n.210G>A c.120-384G>A c.306G>A (p.Lys102=) | ClinVar dbSNP |
| 3 | g.52403227_52403229del | CA543056565 | BAP1 | c.1801_1803del (p.Lys601del) c.1747_1749del (p.Lys583del) n.208_210del c.120-386_120-384del c.304_306del (p.Lys102del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.52403226T>A | CA353098720 | BAP1 | c.1802A>T (p.Lys601Met) c.1748A>T (p.Lys583Met) n.209A>T c.120-385A>T c.305A>T (p.Lys102Met) | dbSNP |
| 3 | g.52403226T>C | CA353098721 | BAP1 | c.1802A>G (p.Lys601Arg) c.1748A>G (p.Lys583Arg) n.209A>G c.120-385A>G c.305A>G (p.Lys102Arg) | dbSNP |
| 3 | g.52403226T>G | CA353098722 | BAP1 | c.1802A>C (p.Lys601Thr) c.1748A>C (p.Lys583Thr) n.209A>C c.120-385A>C c.305A>C (p.Lys102Thr) | |
| 3 | g.52403227T>A | CA353098724 | BAP1 | c.1801A>T (p.Lys601Ter) c.1747A>T (p.Lys583Ter) n.208A>T c.120-386A>T c.304A>T (p.Lys102Ter) | ClinVar |
| 3 | g.52403227T>C | CA2436713 | BAP1 | c.1801A>G (p.Lys601Glu) c.1747A>G (p.Lys583Glu) n.208A>G c.120-386A>G c.304A>G (p.Lys102Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.52403227T>G | CA353098727 | BAP1 | c.1801A>C (p.Lys601Gln) c.1747A>C (p.Lys583Gln) n.208A>C c.120-386A>C c.304A>C (p.Lys102Gln) | |
| 3 | g.52403227T= | CA1364835817 | BAP1 | c.1801A= (p.Lys601=) c.1747A= (p.Lys583=) n.208A= c.120-386A= c.304A= (p.Lys102=) | |
| 3 | g.52403228C>A | CA353098728 | BAP1 | c.1800G>T (p.Glu600Asp) c.1746G>T (p.Glu582Asp) n.207G>T c.120-387G>T c.303G>T (p.Glu101Asp) | |
| 3 | g.52403228C>G | CA353098730 | BAP1 | c.1800G>C (p.Glu600Asp) c.1746G>C (p.Glu582Asp) n.207G>C c.120-387G>C c.303G>C (p.Glu101Asp) | dbSNP |
| 3 | g.52403228C>T | CA433885947 | BAP1 | c.1800G>A (p.Glu600=) c.1746G>A (p.Glu582=) n.207G>A c.120-387G>A c.303G>A (p.Glu101=) | ClinVar dbSNP |
| 3 | g.52403229_52403231del | CA2666009035 | BAP1 | c.1798_1800del (p.Glu600del) c.1744_1746del (p.Glu582del) n.205_207del c.120-389_120-387del c.301_303del (p.Glu101del) | gnomAD v4 |
| 3 | g.52403228_52403229insGT | CA645529895 | BAP1 | c.1799_1800insAC (p.Lys601ArgfsTer17) c.1745_1746insAC (p.Lys583ArgfsTer17) n.206_207insAC c.120-388_120-387insAC c.302_303insAC (p.Lys102ArgfsTer17) c.1799_1800insAC (p.Lys601ArgfsTer?) c.1799_1800insAC (p.Lys601ArgfsTer22) | COSMIC |
| 3 | g.52403229T>A | CA353098731 | BAP1 | c.1799A>T (p.Glu600Val) c.1745A>T (p.Glu582Val) n.206A>T c.120-388A>T c.302A>T (p.Glu101Val) | |
| 3 | g.52403229T>C | CA353098735 | BAP1 | c.1799A>G (p.Glu600Gly) c.1745A>G (p.Glu582Gly) n.206A>G c.120-388A>G c.302A>G (p.Glu101Gly) | |
| 3 | g.52403229T>G | CA353098733 | BAP1 | c.1799A>C (p.Glu600Ala) c.1745A>C (p.Glu582Ala) n.206A>C c.120-388A>C c.302A>C (p.Glu101Ala) | |
| 3 | g.52403230C>A | CA353098740 | BAP1 | c.1798G>T (p.Glu600Ter) c.1744G>T (p.Glu582Ter) n.205G>T c.120-389G>T c.301G>T (p.Glu101Ter) | dbSNP |
| 3 | g.52403230C>G | CA353098744 | BAP1 | c.1798G>C (p.Glu600Gln) c.1744G>C (p.Glu582Gln) n.205G>C c.120-389G>C c.301G>C (p.Glu101Gln) | dbSNP |
| 3 | g.52403230C>T | CA353098743 | BAP1 | c.1798G>A (p.Glu600Lys) c.1744G>A (p.Glu582Lys) n.205G>A c.120-389G>A c.301G>A (p.Glu101Lys) | dbSNP COSMIC |
| 3 | g.52403231del | CA2702827543 | BAP1 | c.1798del (p.Glu600ArgfsTer17) c.1744del (p.Glu582ArgfsTer17) n.205del c.120-389del c.301del (p.Glu101ArgfsTer17) c.1798del (p.Glu600ArgfsTer?) c.1798del (p.Glu600ArgfsTer22) | dbSNP |
| 3 | g.52403231C>A | CA433885949 | BAP1 | c.1797G>T (p.Val599=) c.1743G>T (p.Val581=) n.204G>T c.120-390G>T c.300G>T (p.Val100=) | |
| 3 | g.52403231C= | CA1364835829 | BAP1 | c.1797G= (p.Val599=) c.1743G= (p.Val581=) n.204G= c.120-390G= c.300G= (p.Val100=) | |
| 3 | g.52403231C>G | CA433885950 | BAP1 | c.1797G>C (p.Val599=) c.1743G>C (p.Val581=) n.204G>C c.120-390G>C c.300G>C (p.Val100=) | dbSNP |
| 3 | g.52403231C>T | CA2436714 | BAP1 | c.1797G>A (p.Val599=) c.1743G>A (p.Val581=) n.204G>A c.120-390G>A c.300G>A (p.Val100=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.52403231_52403234del | CA645529896 | BAP1 | c.1794_1797del (p.Val599ArgfsTer17) c.1740_1743del (p.Val581ArgfsTer17) n.201_204del c.120-393_120-390del c.297_300del (p.Val100ArgfsTer17) c.1794_1797del (p.Val599ArgfsTer?) c.1794_1797del (p.Val599ArgfsTer22) | COSMIC |
| 3 | g.52403232A>C | CA353098747 | BAP1 | c.1796T>G (p.Val599Gly) c.1742T>G (p.Val581Gly) n.203T>G c.120-391T>G c.299T>G (p.Val100Gly) | dbSNP |
| 3 | g.52403232A>G | CA353098773 | BAP1 | c.1796T>C (p.Val599Ala) c.1742T>C (p.Val581Ala) n.203T>C c.120-391T>C c.299T>C (p.Val100Ala) | dbSNP |
| 3 | g.52403232A>T | CA353098776 | BAP1 | c.1796T>A (p.Val599Glu) c.1742T>A (p.Val581Glu) n.203T>A c.120-391T>A c.299T>A (p.Val100Glu) | dbSNP |
| 3 | g.52403233C>A | CA353098779 | BAP1 | c.1795G>T (p.Val599Leu) c.1741G>T (p.Val581Leu) n.202G>T c.120-392G>T c.298G>T (p.Val100Leu) | |
| 3 | g.52403233C>G | CA353098783 | BAP1 | c.1795G>C (p.Val599Leu) c.1741G>C (p.Val581Leu) n.202G>C c.120-392G>C c.298G>C (p.Val100Leu) | dbSNP |
| 3 | g.52403233C>T | CA353098788 | BAP1 | c.1795G>A (p.Val599Met) c.1741G>A (p.Val581Met) n.202G>A c.120-392G>A c.298G>A (p.Val100Met) | ClinVar dbSNP |
| 3 | g.52403234T>A | CA433885953 | BAP1 | c.1794A>T (p.Pro598=) c.1740A>T (p.Pro580=) n.201A>T c.120-393A>T c.297A>T (p.Pro99=) | gnomAD v4 |
| 3 | g.52403234T>C | CA433885954 | BAP1 | c.1794A>G (p.Pro598=) c.1740A>G (p.Pro580=) n.201A>G c.120-393A>G c.297A>G (p.Pro99=) | gnomAD v4 |
| 3 | g.52403234T>G | CA433885955 | BAP1 | c.1794A>C (p.Pro598=) c.1740A>C (p.Pro580=) n.201A>C c.120-393A>C c.297A>C (p.Pro99=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.52403234T= | CA1364835836 | BAP1 | c.1794A= (p.Pro598=) c.1740A= (p.Pro580=) n.201A= c.120-393A= c.297A= (p.Pro99=) | |
| 3 | g.52403235G>A | CA2436715 | BAP1 | c.1793C>T (p.Pro598Leu) c.1739C>T (p.Pro580Leu) n.200C>T c.120-394C>T c.296C>T (p.Pro99Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.52403235G>C | CA353098792 | BAP1 | c.1793C>G (p.Pro598Arg) c.1739C>G (p.Pro580Arg) n.200C>G c.120-394C>G c.296C>G (p.Pro99Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.52403235G= | CA1364835842 | BAP1 | c.1793C= (p.Pro598=) c.1739C= (p.Pro580=) n.200C= c.120-394C= c.296C= (p.Pro99=) | |
| 3 | g.52403235G>T | CA353098803 | BAP1 | c.1793C>A (p.Pro598Gln) c.1739C>A (p.Pro580Gln) n.200C>A c.120-394C>A c.296C>A (p.Pro99Gln) | |
| 3 | g.52403237del | CA433885956 | BAP1 | c.1793del (p.Pro598GlnfsTer19) c.1739del (p.Pro580GlnfsTer19) n.200del c.120-394del c.296del (p.Pro99GlnfsTer19) c.1793del (p.Pro598GlnfsTer?) c.1793del (p.Pro598GlnfsTer24) | ClinVar dbSNP COSMIC |
| 3 | g.52403236G>A | CA353098812 | BAP1 | c.1792C>T (p.Pro598Ser) c.1738C>T (p.Pro580Ser) n.199C>T c.120-395C>T c.295C>T (p.Pro99Ser) | |
| 3 | g.52403236G>C | CA353098810 | BAP1 | c.1792C>G (p.Pro598Ala) c.1738C>G (p.Pro580Ala) n.199C>G c.120-395C>G c.295C>G (p.Pro99Ala) | |
| 3 | g.52403236G>T | CA353098807 | BAP1 | c.1792C>A (p.Pro598Thr) c.1738C>A (p.Pro580Thr) n.199C>A c.120-395C>A c.295C>A (p.Pro99Thr) | |
| 3 | g.52403237G>A | CA2436716 | BAP1 | c.1791C>T (p.Ser597=) c.1737C>T (p.Ser579=) n.198C>T c.120-396C>T c.294C>T (p.Ser98=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.52403237G>C | CA353098817 | BAP1 | c.1791C>G (p.Ser597Arg) c.1737C>G (p.Ser579Arg) n.198C>G c.120-396C>G c.294C>G (p.Ser98Arg) | dbSNP |
| 3 | g.52403237G= | CA1364835851 | BAP1 | c.1791C= (p.Ser597=) c.1737C= (p.Ser579=) n.198C= c.120-396C= c.294C= (p.Ser98=) | |
| 3 | g.52403237G>T | CA353098819 | BAP1 | c.1791C>A (p.Ser597Arg) c.1737C>A (p.Ser579Arg) n.198C>A c.120-396C>A c.294C>A (p.Ser98Arg) | dbSNP |
| 3 | g.52403238C>A | CA74740377 | BAP1 | c.1790G>T (p.Ser597Ile) c.1736G>T (p.Ser579Ile) n.197G>T c.120-397G>T c.293G>T (p.Ser98Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.52403238C= | CA1364835856 | BAP1 | c.1790G= (p.Ser597=) c.1736G= (p.Ser579=) n.197G= c.120-397G= c.293G= (p.Ser98=) | |
| 3 | g.52403238C>G | CA353098825 | BAP1 | c.1790G>C (p.Ser597Thr) c.1736G>C (p.Ser579Thr) n.197G>C c.120-397G>C c.293G>C (p.Ser98Thr) | dbSNP |
| 3 | g.52403238C>T | CA2436717 | BAP1 | c.1790G>A (p.Ser597Asn) c.1736G>A (p.Ser579Asn) n.197G>A c.120-397G>A c.293G>A (p.Ser98Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.52403239T>A | CA353098834 | BAP1 | c.1789A>T (p.Ser597Cys) c.1735A>T (p.Ser579Cys) n.196A>T c.120-398A>T c.292A>T (p.Ser98Cys) | dbSNP |
| 3 | g.52403239T>C | CA353098843 | BAP1 | c.1789A>G (p.Ser597Gly) c.1735A>G (p.Ser579Gly) n.196A>G c.120-398A>G c.292A>G (p.Ser98Gly) | |
| 3 | g.52403239T>G | CA353098845 | BAP1 | c.1789A>C (p.Ser597Arg) c.1735A>C (p.Ser579Arg) n.196A>C c.120-398A>C c.292A>C (p.Ser98Arg) | ClinVar dbSNP |
| 3 | g.52403239T= | CA1364835867 | BAP1 | c.1789A= (p.Ser597=) c.1735A= (p.Ser579=) n.196A= c.120-398A= c.292A= (p.Ser98=) | |
| 3 | g.52403240G>A | CA433885964 | BAP1 | c.1788C>T (p.Ser596=) c.1734C>T (p.Ser578=) n.195C>T c.120-399C>T c.291C>T (p.Ser97=) | dbSNP gnomAD v4 |
| 3 | g.52403240G>C | CA353098850 | BAP1 | c.1788C>G (p.Ser596Arg) c.1734C>G (p.Ser578Arg) n.195C>G c.120-399C>G c.291C>G (p.Ser97Arg) | ClinVar dbSNP |
| 3 | g.52403240G>T | CA353098856 | BAP1 | c.1788C>A (p.Ser596Arg) c.1734C>A (p.Ser578Arg) n.195C>A c.120-399C>A c.291C>A (p.Ser97Arg) |