| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.52402575_52402596del | CA2577782189 | BAP1 | c.2056+8_2056+29del (n.2056+8_2056+29del) c.2002+8_2002+29del (n.2002+8_2002+29del) n.729+8_729+29del c.255+8_255+29del c.628+8_628+29del (n.628+8_628+29del) c.2125+8_2125+29del (n.2125+8_2125+29del) c.2080+8_2080+29del (n.2080+8_2080+29del) c.2071+8_2071+29del (n.2071+8_2071+29del) c.2011+8_2011+29del (n.2011+8_2011+29del) | |
| 3 | g.52402588_52402616del | CA645529862 | BAP1 | c.2047_2056+19del c.1993_2002+19del n.720_729+19del c.246_255+19del c.619_628+19del c.2116_2125+19del c.2071_2080+19del c.2062_2071+19del c.2002_2011+19del | COSMIC |
| 3 | g.52402593T>A | CA2702823885 | BAP1 | c.2056+9A>T (n.2056+9A>T) c.2002+9A>T (n.2002+9A>T) n.729+9A>T c.255+9A>T c.628+9A>T (n.628+9A>T) c.2125+9A>T (n.2125+9A>T) c.2080+9A>T (n.2080+9A>T) c.2071+9A>T (n.2071+9A>T) c.2011+9A>T (n.2011+9A>T) | dbSNP |
| 3 | g.52402593T>C | CA2577782200 | BAP1 | c.2056+9A>G (n.2056+9A>G) c.2002+9A>G (n.2002+9A>G) n.729+9A>G c.255+9A>G c.628+9A>G (n.628+9A>G) c.2125+9A>G (n.2125+9A>G) c.2080+9A>G (n.2080+9A>G) c.2071+9A>G (n.2071+9A>G) c.2011+9A>G (n.2011+9A>G) | dbSNP |
| 3 | g.52402593T>G | CA2702823934 | BAP1 | c.2056+9A>C (n.2056+9A>C) c.2002+9A>C (n.2002+9A>C) n.729+9A>C c.255+9A>C c.628+9A>C (n.628+9A>C) c.2125+9A>C (n.2125+9A>C) c.2080+9A>C (n.2080+9A>C) c.2071+9A>C (n.2071+9A>C) c.2011+9A>C (n.2011+9A>C) | dbSNP |
| 3 | g.52402594C>G | CA2702823938 | BAP1 | c.2056+8G>C (n.2056+8G>C) c.2002+8G>C (n.2002+8G>C) n.729+8G>C c.255+8G>C c.628+8G>C (n.628+8G>C) c.2125+8G>C (n.2125+8G>C) c.2080+8G>C (n.2080+8G>C) c.2071+8G>C (n.2071+8G>C) c.2011+8G>C (n.2011+8G>C) | dbSNP |
| 3 | g.52402594C>T | CA2702823968 | BAP1 | c.2056+8G>A (n.2056+8G>A) c.2002+8G>A (n.2002+8G>A) n.729+8G>A c.255+8G>A c.628+8G>A (n.628+8G>A) c.2125+8G>A (n.2125+8G>A) c.2080+8G>A (n.2080+8G>A) c.2071+8G>A (n.2071+8G>A) c.2011+8G>A (n.2011+8G>A) | dbSNP |
| 3 | g.52402595C>A | CA2702542573 | BAP1 | c.2056+7G>T (n.2056+7G>T) c.2002+7G>T (n.2002+7G>T) n.729+7G>T c.255+7G>T c.628+7G>T (n.628+7G>T) c.2125+7G>T (n.2125+7G>T) c.2080+7G>T (n.2080+7G>T) c.2071+7G>T (n.2071+7G>T) c.2011+7G>T (n.2011+7G>T) | dbSNP |
| 3 | g.52402595C= | CA1364834819 | BAP1 | c.2056+7G= (n.2056+7G=) c.2002+7G= (n.2002+7G=) n.729+7G= c.255+7G= c.628+7G= (n.628+7G=) c.2125+7G= (n.2125+7G=) c.2080+7G= (n.2080+7G=) c.2071+7G= (n.2071+7G=) c.2011+7G= (n.2011+7G=) | |
| 3 | g.52402595C>G | CA2702542572 | BAP1 | c.2056+7G>C (n.2056+7G>C) c.2002+7G>C (n.2002+7G>C) n.729+7G>C c.255+7G>C c.628+7G>C (n.628+7G>C) c.2125+7G>C (n.2125+7G>C) c.2080+7G>C (n.2080+7G>C) c.2071+7G>C (n.2071+7G>C) c.2011+7G>C (n.2011+7G>C) | dbSNP |
| 3 | g.52402595C>T | CA2436616 | BAP1 | c.2056+7G>A (n.2056+7G>A) c.2002+7G>A (n.2002+7G>A) n.729+7G>A c.255+7G>A c.628+7G>A (n.628+7G>A) c.2125+7G>A (n.2125+7G>A) c.2080+7G>A (n.2080+7G>A) c.2071+7G>A (n.2071+7G>A) c.2011+7G>A (n.2011+7G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.52402596C>A | CA2702577646 | BAP1 | c.2056+6G>T (n.2056+6G>T) c.2002+6G>T (n.2002+6G>T) n.729+6G>T c.255+6G>T c.628+6G>T (n.628+6G>T) c.2125+6G>T (n.2125+6G>T) c.2080+6G>T (n.2080+6G>T) c.2071+6G>T (n.2071+6G>T) c.2011+6G>T (n.2011+6G>T) | dbSNP |
| 3 | g.52402596C= | CA1364834821 | BAP1 | c.2056+6G= (n.2056+6G=) c.2002+6G= (n.2002+6G=) n.729+6G= c.255+6G= c.628+6G= (n.628+6G=) c.2125+6G= (n.2125+6G=) c.2080+6G= (n.2080+6G=) c.2071+6G= (n.2071+6G=) c.2011+6G= (n.2011+6G=) | |
| 3 | g.52402596C>T | CA658683343 | BAP1 | c.2056+6G>A (n.2056+6G>A) c.2002+6G>A (n.2002+6G>A) n.729+6G>A c.255+6G>A c.628+6G>A (n.628+6G>A) c.2125+6G>A (n.2125+6G>A) c.2080+6G>A (n.2080+6G>A) c.2071+6G>A (n.2071+6G>A) c.2011+6G>A (n.2011+6G>A) | ClinVar dbSNP |
| 3 | g.52402597C>A | CA2739279929 | BAP1 | c.2056+5G>T (n.2056+5G>T) c.2002+5G>T (n.2002+5G>T) n.729+5G>T c.255+5G>T c.628+5G>T (n.628+5G>T) c.2125+5G>T (n.2125+5G>T) c.2080+5G>T (n.2080+5G>T) c.2071+5G>T (n.2071+5G>T) c.2011+5G>T (n.2011+5G>T) | ClinVar |
| 3 | g.52402597C>G | CA2573137276 | BAP1 | c.2056+5G>C (n.2056+5G>C) c.2002+5G>C (n.2002+5G>C) n.729+5G>C c.255+5G>C c.628+5G>C (n.628+5G>C) c.2125+5G>C (n.2125+5G>C) c.2080+5G>C (n.2080+5G>C) c.2071+5G>C (n.2071+5G>C) c.2011+5G>C (n.2011+5G>C) | ClinVar dbSNP |
| 3 | g.52402599C>G | CA2702824367 | BAP1 | c.2056+3G>C (n.2056+3G>C) c.2002+3G>C (n.2002+3G>C) n.729+3G>C c.255+3G>C c.628+3G>C (n.628+3G>C) c.2125+3G>C (n.2125+3G>C) c.2080+3G>C (n.2080+3G>C) c.2071+3G>C (n.2071+3G>C) c.2011+3G>C (n.2011+3G>C) | dbSNP |
| 3 | g.52402599C>T | CA2573137278 | BAP1 | c.2056+3G>A (n.2056+3G>A) c.2002+3G>A (n.2002+3G>A) n.729+3G>A c.255+3G>A c.628+3G>A (n.628+3G>A) c.2125+3G>A (n.2125+3G>A) c.2080+3G>A (n.2080+3G>A) c.2071+3G>A (n.2071+3G>A) c.2011+3G>A (n.2011+3G>A) | ClinVar dbSNP gnomAD v4 |
| 3 | g.52402600A>C | CA353096082 | BAP1 | c.2056+2T>G (n.2056+2T>G) c.2002+2T>G (n.2002+2T>G) n.729+2T>G c.255+2T>G c.628+2T>G (n.628+2T>G) c.2125+2T>G (n.2125+2T>G) c.2080+2T>G (n.2080+2T>G) c.2071+2T>G (n.2071+2T>G) c.2011+2T>G (n.2011+2T>G) | dbSNP |
| 3 | g.52402600A>G | CA353096084 | BAP1 | c.2056+2T>C (n.2056+2T>C) c.2002+2T>C (n.2002+2T>C) n.729+2T>C c.255+2T>C c.628+2T>C (n.628+2T>C) c.2125+2T>C (n.2125+2T>C) c.2080+2T>C (n.2080+2T>C) c.2071+2T>C (n.2071+2T>C) c.2011+2T>C (n.2011+2T>C) | |
| 3 | g.52402600A>T | CA353096092 | BAP1 | c.2056+2T>A (n.2056+2T>A) c.2002+2T>A (n.2002+2T>A) n.729+2T>A c.255+2T>A c.628+2T>A (n.628+2T>A) c.2125+2T>A (n.2125+2T>A) c.2080+2T>A (n.2080+2T>A) c.2071+2T>A (n.2071+2T>A) c.2011+2T>A (n.2011+2T>A) | dbSNP |
| 3 | g.52402601C>A | CA353096094 | BAP1 | c.2056+1G>T (n.2056+1G>T) c.2002+1G>T (n.2002+1G>T) n.729+1G>T c.255+1G>T c.628+1G>T (n.628+1G>T) c.2125+1G>T (n.2125+1G>T) c.2080+1G>T (n.2080+1G>T) c.2071+1G>T (n.2071+1G>T) c.2011+1G>T (n.2011+1G>T) | |
| 3 | g.52402601C= | CA1364834823 | BAP1 | c.2056+1G= (n.2056+1G=) c.2002+1G= (n.2002+1G=) n.729+1G= c.255+1G= c.628+1G= (n.628+1G=) c.2125+1G= (n.2125+1G=) c.2080+1G= (n.2080+1G=) c.2071+1G= (n.2071+1G=) c.2011+1G= (n.2011+1G=) | |
| 3 | g.52402601C>G | CA353096097 | BAP1 | c.2056+1G>C (n.2056+1G>C) c.2002+1G>C (n.2002+1G>C) n.729+1G>C c.255+1G>C c.628+1G>C (n.628+1G>C) c.2125+1G>C (n.2125+1G>C) c.2080+1G>C (n.2080+1G>C) c.2071+1G>C (n.2071+1G>C) c.2011+1G>C (n.2011+1G>C) | ClinVar dbSNP gnomAD v4 |
| 3 | g.52402601C>T | CA353096099 | BAP1 | c.2056+1G>A (n.2056+1G>A) c.2002+1G>A (n.2002+1G>A) n.729+1G>A c.255+1G>A c.628+1G>A (n.628+1G>A) c.2125+1G>A (n.2125+1G>A) c.2080+1G>A (n.2080+1G>A) c.2071+1G>A (n.2071+1G>A) c.2011+1G>A (n.2011+1G>A) | ClinVar dbSNP |
| 3 | g.52402602C>A | CA353096100 | BAP1 | c.2056G>T (p.Gly686Cys) c.2002G>T (p.Gly668Cys) n.729G>T c.255G>T c.628G>T (p.Gly210Cys) c.2125G>T (p.Gly709Cys) c.2080G>T (p.Gly694Cys) c.2071G>T (p.Gly691Cys) c.2011G>T (p.Gly671Cys) | COSMIC |
| 3 | g.52402602C= | CA1364834825 | BAP1 | c.2056G= (p.Gly686=) c.2002G= (p.Gly668=) n.729G= c.255G= c.628G= (p.Gly210=) c.2125G= (p.Gly709=) c.2080G= (p.Gly694=) c.2071G= (p.Gly691=) c.2011G= (p.Gly671=) | |
| 3 | g.52402602C>G | CA353096103 | BAP1 | c.2056G>C (p.Gly686Arg) c.2002G>C (p.Gly668Arg) n.729G>C c.255G>C c.628G>C (p.Gly210Arg) c.2125G>C (p.Gly709Arg) c.2080G>C (p.Gly694Arg) c.2071G>C (p.Gly691Arg) c.2011G>C (p.Gly671Arg) | |
| 3 | g.52402602C>T | CA353096110 | BAP1 | c.2056G>A (p.Gly686Ser) c.2002G>A (p.Gly668Ser) n.729G>A c.255G>A c.628G>A (p.Gly210Ser) c.2125G>A (p.Gly709Ser) c.2080G>A (p.Gly694Ser) c.2071G>A (p.Gly691Ser) c.2011G>A (p.Gly671Ser) | ClinVar dbSNP |
| 3 | g.52402604_52402676del | CA645529863 | BAP1 | c.1984_2056del c.1930_2002del n.657_729del c.183_255del c.556_628del c.2053_2125del c.2008_2080del c.1999_2071del c.1939_2011del | COSMIC |
| 3 | g.52402603T>A | CA353096111 | BAP1 | c.2055A>T (p.Glu685Asp) c.2001A>T (p.Glu667Asp) n.728A>T c.254A>T c.627A>T (p.Glu209Asp) c.2124A>T (p.Glu708Asp) c.2079A>T (p.Glu693Asp) c.2070A>T (p.Glu690Asp) c.2010A>T (p.Glu670Asp) | |
| 3 | g.52402603T>C | CA433885689 | BAP1 | c.2055A>G (p.Glu685=) c.2001A>G (p.Glu667=) n.728A>G c.254A>G c.627A>G (p.Glu209=) c.2124A>G (p.Glu708=) c.2079A>G (p.Glu693=) c.2070A>G (p.Glu690=) c.2010A>G (p.Glu670=) | ClinVar |
| 3 | g.52402603T>G | CA353096112 | BAP1 | c.2055A>C (p.Glu685Asp) c.2001A>C (p.Glu667Asp) n.728A>C c.254A>C c.627A>C (p.Glu209Asp) c.2124A>C (p.Glu708Asp) c.2079A>C (p.Glu693Asp) c.2070A>C (p.Glu690Asp) c.2010A>C (p.Glu670Asp) | |
| 3 | g.52402604T>A | CA353096117 | BAP1 | c.2054A>T (p.Glu685Val) c.2000A>T (p.Glu667Val) n.727A>T c.253A>T c.626A>T (p.Glu209Val) c.2123A>T (p.Glu708Val) c.2078A>T (p.Glu693Val) c.2069A>T (p.Glu690Val) c.2009A>T (p.Glu670Val) | ClinVar COSMIC |
| 3 | g.52402604T>C | CA353096113 | BAP1 | c.2054A>G (p.Glu685Gly) c.2000A>G (p.Glu667Gly) n.727A>G c.253A>G c.626A>G (p.Glu209Gly) c.2123A>G (p.Glu708Gly) c.2078A>G (p.Glu693Gly) c.2069A>G (p.Glu690Gly) c.2009A>G (p.Glu670Gly) | dbSNP |
| 3 | g.52402604T>G | CA353096115 | BAP1 | c.2054A>C (p.Glu685Ala) c.2000A>C (p.Glu667Ala) n.727A>C c.253A>C c.626A>C (p.Glu209Ala) c.2123A>C (p.Glu708Ala) c.2078A>C (p.Glu693Ala) c.2069A>C (p.Glu690Ala) c.2009A>C (p.Glu670Ala) | |
| 3 | g.52402605C>A | CA353096118 | BAP1 | c.2053G>T (p.Glu685Ter) c.1999G>T (p.Glu667Ter) n.726G>T c.252G>T c.625G>T (p.Glu209Ter) c.2122G>T (p.Glu708Ter) c.2077G>T (p.Glu693Ter) c.2068G>T (p.Glu690Ter) c.2008G>T (p.Glu670Ter) | dbSNP |
| 3 | g.52402605C>G | CA353096119 | BAP1 | c.2053G>C (p.Glu685Gln) c.1999G>C (p.Glu667Gln) n.726G>C c.252G>C c.625G>C (p.Glu209Gln) c.2122G>C (p.Glu708Gln) c.2077G>C (p.Glu693Gln) c.2068G>C (p.Glu690Gln) c.2008G>C (p.Glu670Gln) | dbSNP |
| 3 | g.52402605C>T | CA353096120 | BAP1 | c.2053G>A (p.Glu685Lys) c.1999G>A (p.Glu667Lys) n.726G>A c.252G>A c.625G>A (p.Glu209Lys) c.2122G>A (p.Glu708Lys) c.2077G>A (p.Glu693Lys) c.2068G>A (p.Glu690Lys) c.2008G>A (p.Glu670Lys) | ClinVar dbSNP |
| 3 | g.52402606C>A | CA353096121 | BAP1 | c.2052G>T (p.Gln684His) c.1998G>T (p.Gln666His) n.725G>T c.251G>T c.624G>T (p.Gln208His) c.2121G>T (p.Gln707His) c.2076G>T (p.Gln692His) c.2067G>T (p.Gln689His) c.2007G>T (p.Gln669His) | dbSNP |
| 3 | g.52402606C>G | CA353096122 | BAP1 | c.2052G>C (p.Gln684His) c.1998G>C (p.Gln666His) n.725G>C c.251G>C c.624G>C (p.Gln208His) c.2121G>C (p.Gln707His) c.2076G>C (p.Gln692His) c.2067G>C (p.Gln689His) c.2007G>C (p.Gln669His) | |
| 3 | g.52402606C>T | CA433885690 | BAP1 | c.2052G>A (p.Gln684=) c.1998G>A (p.Gln666=) n.725G>A c.251G>A c.624G>A (p.Gln208=) c.2121G>A (p.Gln707=) c.2076G>A (p.Gln692=) c.2067G>A (p.Gln689=) c.2007G>A (p.Gln669=) | dbSNP |
| 3 | g.52402607del | CA433885691 | BAP1 | c.2051del (p.Gln684ArgfsTer8) c.1997del (p.Gln666ArgfsTer8) n.724del c.250del c.623del (p.Gln208ArgfsTer8) c.2120del (p.Gln707ArgfsTer8) c.2075del (p.Gln692ArgfsTer8) c.2066del (p.Gln689ArgfsTer8) c.2006del (p.Gln669ArgfsTer8) | COSMIC |
| 3 | g.52402607T>A | CA353096126 | BAP1 | c.2051A>T (p.Gln684Leu) c.1997A>T (p.Gln666Leu) n.724A>T c.250A>T c.623A>T (p.Gln208Leu) c.2120A>T (p.Gln707Leu) c.2075A>T (p.Gln692Leu) c.2066A>T (p.Gln689Leu) c.2006A>T (p.Gln669Leu) | |
| 3 | g.52402607T>C | CA353096125 | BAP1 | c.2051A>G (p.Gln684Arg) c.1997A>G (p.Gln666Arg) n.724A>G c.250A>G c.623A>G (p.Gln208Arg) c.2120A>G (p.Gln707Arg) c.2075A>G (p.Gln692Arg) c.2066A>G (p.Gln689Arg) c.2006A>G (p.Gln669Arg) | |
| 3 | g.52402607T>G | CA353096123 | BAP1 | c.2051A>C (p.Gln684Pro) c.1997A>C (p.Gln666Pro) n.724A>C c.250A>C c.623A>C (p.Gln208Pro) c.2120A>C (p.Gln707Pro) c.2075A>C (p.Gln692Pro) c.2066A>C (p.Gln689Pro) c.2006A>C (p.Gln669Pro) | |
| 3 | g.52402608_52402623del | CA2573137279 | BAP1 | c.2036_2051del (p.Ile679ArgfsTer8) c.1982_1997del (p.Ile661ArgfsTer8) n.709_724del c.235_250del c.608_623del (p.Ile203ArgfsTer8) c.2105_2120del (p.Ile702ArgfsTer8) c.2060_2075del (p.Ile687ArgfsTer8) c.2051_2066del (p.Ile684ArgfsTer8) c.1991_2006del (p.Ile664ArgfsTer8) | dbSNP |
| 3 | g.52402608G>A | CA129103 | BAP1 | c.2050C>T (p.Gln684Ter) c.1996C>T (p.Gln666Ter) n.723C>T c.249C>T c.622C>T (p.Gln208Ter) c.2119C>T (p.Gln707Ter) c.2074C>T (p.Gln692Ter) c.2065C>T (p.Gln689Ter) c.2005C>T (p.Gln669Ter) | ClinVar dbSNP ExAC gnomAD v4 COSMIC |
| 3 | g.52402608G>C | CA353096129 | BAP1 | c.2050C>G (p.Gln684Glu) c.1996C>G (p.Gln666Glu) n.723C>G c.249C>G c.622C>G (p.Gln208Glu) c.2119C>G (p.Gln707Glu) c.2074C>G (p.Gln692Glu) c.2065C>G (p.Gln689Glu) c.2005C>G (p.Gln669Glu) | dbSNP gnomAD v4 |
| 3 | g.52402608G= | CA1364834827 | BAP1 | c.2050C= (p.Gln684=) c.1996C= (p.Gln666=) n.723C= c.249C= c.622C= (p.Gln208=) c.2119C= (p.Gln707=) c.2074C= (p.Gln692=) c.2065C= (p.Gln689=) c.2005C= (p.Gln669=) | |
| 3 | g.52402608G>T | CA353096130 | BAP1 | c.2050C>A (p.Gln684Lys) c.1996C>A (p.Gln666Lys) n.723C>A c.249C>A c.622C>A (p.Gln208Lys) c.2119C>A (p.Gln707Lys) c.2074C>A (p.Gln692Lys) c.2065C>A (p.Gln689Lys) c.2005C>A (p.Gln669Lys) | |
| 3 | g.52402609A>C | CA433885692 | BAP1 | c.2049T>G (p.Ala683=) c.1995T>G (p.Ala665=) n.722T>G c.248T>G c.621T>G (p.Ala207=) c.2118T>G (p.Ala706=) c.2073T>G (p.Ala691=) c.2064T>G (p.Ala688=) c.2004T>G (p.Ala668=) | ClinVar |
| 3 | g.52402609A>G | CA433885693 | BAP1 | c.2049T>C (p.Ala683=) c.1995T>C (p.Ala665=) n.722T>C c.248T>C c.621T>C (p.Ala207=) c.2118T>C (p.Ala706=) c.2073T>C (p.Ala691=) c.2064T>C (p.Ala688=) c.2004T>C (p.Ala668=) | dbSNP |
| 3 | g.52402609A>T | CA433885694 | BAP1 | c.2049T>A (p.Ala683=) c.1995T>A (p.Ala665=) n.722T>A c.248T>A c.621T>A (p.Ala207=) c.2118T>A (p.Ala706=) c.2073T>A (p.Ala691=) c.2064T>A (p.Ala688=) c.2004T>A (p.Ala668=) | dbSNP |
| 3 | g.52402610G>A | CA353096132 | BAP1 | c.2048C>T (p.Ala683Val) c.1994C>T (p.Ala665Val) n.721C>T c.247C>T c.620C>T (p.Ala207Val) c.2117C>T (p.Ala706Val) c.2072C>T (p.Ala691Val) c.2063C>T (p.Ala688Val) c.2003C>T (p.Ala668Val) | |
| 3 | g.52402610G>C | CA353096133 | BAP1 | c.2048C>G (p.Ala683Gly) c.1994C>G (p.Ala665Gly) n.721C>G c.247C>G c.620C>G (p.Ala207Gly) c.2117C>G (p.Ala706Gly) c.2072C>G (p.Ala691Gly) c.2063C>G (p.Ala688Gly) c.2003C>G (p.Ala668Gly) | |
| 3 | g.52402610G>T | CA353096134 | BAP1 | c.2048C>A (p.Ala683Asp) c.1994C>A (p.Ala665Asp) n.721C>A c.247C>A c.620C>A (p.Ala207Asp) c.2117C>A (p.Ala706Asp) c.2072C>A (p.Ala691Asp) c.2063C>A (p.Ala688Asp) c.2003C>A (p.Ala668Asp) | |
| 3 | g.52402611C>A | CA353096136 | BAP1 | c.2047G>T (p.Ala683Ser) c.1993G>T (p.Ala665Ser) n.720G>T c.246G>T c.619G>T (p.Ala207Ser) c.2116G>T (p.Ala706Ser) c.2071G>T (p.Ala691Ser) c.2062G>T (p.Ala688Ser) c.2002G>T (p.Ala668Ser) | dbSNP |
| 3 | g.52402611C>G | CA353096140 | BAP1 | c.2047G>C (p.Ala683Pro) c.1993G>C (p.Ala665Pro) n.720G>C c.246G>C c.619G>C (p.Ala207Pro) c.2116G>C (p.Ala706Pro) c.2071G>C (p.Ala691Pro) c.2062G>C (p.Ala688Pro) c.2002G>C (p.Ala668Pro) | ClinVar dbSNP |
| 3 | g.52402611C>T | CA353096138 | BAP1 | c.2047G>A (p.Ala683Thr) c.1993G>A (p.Ala665Thr) n.720G>A c.246G>A c.619G>A (p.Ala207Thr) c.2116G>A (p.Ala706Thr) c.2071G>A (p.Ala691Thr) c.2062G>A (p.Ala688Thr) c.2002G>A (p.Ala668Thr) | dbSNP |
| 3 | g.52402612del | CA645529864 | BAP1 | c.2047del (p.Ala683LeufsTer9) c.1993del (p.Ala665LeufsTer9) n.720del c.246del c.619del (p.Ala207LeufsTer9) c.2116del (p.Ala706LeufsTer9) c.2071del (p.Ala691LeufsTer9) c.2062del (p.Ala688LeufsTer9) c.2002del (p.Ala668LeufsTer9) | COSMIC |
| 3 | g.52402612C>A | CA433885695 | BAP1 | c.2046G>T (p.Leu682=) c.1992G>T (p.Leu664=) n.719G>T c.245G>T c.618G>T (p.Leu206=) c.2115G>T (p.Leu705=) c.2070G>T (p.Leu690=) c.2061G>T (p.Leu687=) c.2001G>T (p.Leu667=) | |
| 3 | g.52402612C>G | CA433885696 | BAP1 | c.2046G>C (p.Leu682=) c.1992G>C (p.Leu664=) n.719G>C c.245G>C c.618G>C (p.Leu206=) c.2115G>C (p.Leu705=) c.2070G>C (p.Leu690=) c.2061G>C (p.Leu687=) c.2001G>C (p.Leu667=) | dbSNP |
| 3 | g.52402612C>T | CA433885697 | BAP1 | c.2046G>A (p.Leu682=) c.1992G>A (p.Leu664=) n.719G>A c.245G>A c.618G>A (p.Leu206=) c.2115G>A (p.Leu705=) c.2070G>A (p.Leu690=) c.2061G>A (p.Leu687=) c.2001G>A (p.Leu667=) | dbSNP |
| 3 | g.52402615_52402633del | CA645529865 | BAP1 | c.2028_2046del (p.Cys676TrpfsTer10) c.1974_1992del (p.Cys658TrpfsTer10) n.701_719del c.227_245del c.600_618del (p.Cys200TrpfsTer10) c.2097_2115del (p.Cys699TrpfsTer10) c.2052_2070del (p.Cys684TrpfsTer10) c.2043_2061del (p.Cys681TrpfsTer10) c.1983_2001del (p.Cys661TrpfsTer10) | COSMIC |
| 3 | g.52402613A>C | CA353096144 | BAP1 | c.2045T>G (p.Leu682Arg) c.1991T>G (p.Leu664Arg) n.718T>G c.244T>G c.617T>G (p.Leu206Arg) c.2114T>G (p.Leu705Arg) c.2069T>G (p.Leu690Arg) c.2060T>G (p.Leu687Arg) c.2000T>G (p.Leu667Arg) | |
| 3 | g.52402613A>G | CA353096146 | BAP1 | c.2045T>C (p.Leu682Pro) c.1991T>C (p.Leu664Pro) n.718T>C c.244T>C c.617T>C (p.Leu206Pro) c.2114T>C (p.Leu705Pro) c.2069T>C (p.Leu690Pro) c.2060T>C (p.Leu687Pro) c.2000T>C (p.Leu667Pro) | |
| 3 | g.52402613A>T | CA353096151 | BAP1 | c.2045T>A (p.Leu682Gln) c.1991T>A (p.Leu664Gln) n.718T>A c.244T>A c.617T>A (p.Leu206Gln) c.2114T>A (p.Leu705Gln) c.2069T>A (p.Leu690Gln) c.2060T>A (p.Leu687Gln) c.2000T>A (p.Leu667Gln) | dbSNP |
| 3 | g.52402614G>A | CA433885698 | BAP1 | c.2044C>T (p.Leu682=) c.1990C>T (p.Leu664=) n.717C>T c.243C>T c.616C>T (p.Leu206=) c.2113C>T (p.Leu705=) c.2068C>T (p.Leu690=) c.2059C>T (p.Leu687=) c.1999C>T (p.Leu667=) | ClinVar dbSNP |
| 3 | g.52402614G>C | CA353096152 | BAP1 | c.2044C>G (p.Leu682Val) c.1990C>G (p.Leu664Val) n.717C>G c.243C>G c.616C>G (p.Leu206Val) c.2113C>G (p.Leu705Val) c.2068C>G (p.Leu690Val) c.2059C>G (p.Leu687Val) c.1999C>G (p.Leu667Val) | dbSNP |
| 3 | g.52402614G>T | CA353096153 | BAP1 | c.2044C>A (p.Leu682Met) c.1990C>A (p.Leu664Met) n.717C>A c.243C>A c.616C>A (p.Leu206Met) c.2113C>A (p.Leu705Met) c.2068C>A (p.Leu690Met) c.2059C>A (p.Leu687Met) c.1999C>A (p.Leu667Met) | |
| 3 | g.52402615C>A | CA353096155 | BAP1 | c.2043G>T (p.Met681Ile) c.1989G>T (p.Met663Ile) n.716G>T c.242G>T c.615G>T (p.Met205Ile) c.2112G>T (p.Met704Ile) c.2067G>T (p.Met689Ile) c.2058G>T (p.Met686Ile) c.1998G>T (p.Met666Ile) | dbSNP |
| 3 | g.52402615C>G | CA353096159 | BAP1 | c.2043G>C (p.Met681Ile) c.1989G>C (p.Met663Ile) n.716G>C c.242G>C c.615G>C (p.Met205Ile) c.2112G>C (p.Met704Ile) c.2067G>C (p.Met689Ile) c.2058G>C (p.Met686Ile) c.1998G>C (p.Met666Ile) | ClinVar dbSNP |
| 3 | g.52402615C>T | CA353096161 | BAP1 | c.2043G>A (p.Met681Ile) c.1989G>A (p.Met663Ile) n.716G>A c.242G>A c.615G>A (p.Met205Ile) c.2112G>A (p.Met704Ile) c.2067G>A (p.Met689Ile) c.2058G>A (p.Met686Ile) c.1998G>A (p.Met666Ile) | dbSNP |
| 3 | g.52402616A>C | CA353096165 | BAP1 | c.2042T>G (p.Met681Arg) c.1988T>G (p.Met663Arg) n.715T>G c.241T>G c.614T>G (p.Met205Arg) c.2111T>G (p.Met704Arg) c.2066T>G (p.Met689Arg) c.2057T>G (p.Met686Arg) c.1997T>G (p.Met666Arg) | |
| 3 | g.52402616A>G | CA353096167 | BAP1 | c.2042T>C (p.Met681Thr) c.1988T>C (p.Met663Thr) n.715T>C c.241T>C c.614T>C (p.Met205Thr) c.2111T>C (p.Met704Thr) c.2066T>C (p.Met689Thr) c.2057T>C (p.Met686Thr) c.1997T>C (p.Met666Thr) | dbSNP gnomAD v4 |
| 3 | g.52402616A>T | CA353096168 | BAP1 | c.2042T>A (p.Met681Lys) c.1988T>A (p.Met663Lys) n.715T>A c.241T>A c.614T>A (p.Met205Lys) c.2111T>A (p.Met704Lys) c.2066T>A (p.Met689Lys) c.2057T>A (p.Met686Lys) c.1997T>A (p.Met666Lys) | dbSNP |
| 3 | g.52402616dup | CA645529866 | BAP1 | c.2042dup (p.Met681IlefsTer?) c.1988dup (p.Met663IlefsTer?) n.715dup c.241dup c.614dup (p.Met205IlefsTer?) c.2111dup (p.Met704IlefsTer?) c.2066dup (p.Met689IlefsTer?) c.2057dup (p.Met686IlefsTer?) c.1997dup (p.Met666IlefsTer?) | COSMIC |
| 3 | g.52402617T>A | CA353096170 | BAP1 | c.2041A>T (p.Met681Leu) c.1987A>T (p.Met663Leu) n.714A>T c.240A>T c.613A>T (p.Met205Leu) c.2110A>T (p.Met704Leu) c.2065A>T (p.Met689Leu) c.2056A>T (p.Met686Leu) c.1996A>T (p.Met666Leu) | |
| 3 | g.52402617T>C | CA353096173 | BAP1 | c.2041A>G (p.Met681Val) c.1987A>G (p.Met663Val) n.714A>G c.240A>G c.613A>G (p.Met205Val) c.2110A>G (p.Met704Val) c.2065A>G (p.Met689Val) c.2056A>G (p.Met686Val) c.1996A>G (p.Met666Val) | ClinVar |
| 3 | g.52402617T>G | CA353096172 | BAP1 | c.2041A>C (p.Met681Leu) c.1987A>C (p.Met663Leu) n.714A>C c.240A>C c.613A>C (p.Met205Leu) c.2110A>C (p.Met704Leu) c.2065A>C (p.Met689Leu) c.2056A>C (p.Met686Leu) c.1996A>C (p.Met666Leu) | gnomAD v4 |
| 3 | g.52402617dup | CA433885699 | BAP1 | c.2041dup (p.Met681AsnfsTer?) c.1987dup (p.Met663AsnfsTer?) n.714dup c.240dup c.613dup (p.Met205AsnfsTer?) c.2110dup (p.Met704AsnfsTer?) c.2065dup (p.Met689AsnfsTer?) c.2056dup (p.Met686AsnfsTer?) c.1996dup (p.Met666AsnfsTer?) | |
| 3 | g.52402618G>A | CA2436617 | BAP1 | c.2040C>T (p.Ser680=) c.1986C>T (p.Ser662=) n.713C>T c.239C>T c.612C>T (p.Ser204=) c.2109C>T (p.Ser703=) c.2064C>T (p.Ser688=) c.2055C>T (p.Ser685=) c.1995C>T (p.Ser665=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.52402618G>C | CA433885701 | BAP1 | c.2040C>G (p.Ser680=) c.1986C>G (p.Ser662=) n.713C>G c.239C>G c.612C>G (p.Ser204=) c.2109C>G (p.Ser703=) c.2064C>G (p.Ser688=) c.2055C>G (p.Ser685=) c.1995C>G (p.Ser665=) | dbSNP |
| 3 | g.52402618G= | CA1364834830 | BAP1 | c.2040C= (p.Ser680=) c.1986C= (p.Ser662=) n.713C= c.239C= c.612C= (p.Ser204=) c.2109C= (p.Ser703=) c.2064C= (p.Ser688=) c.2055C= (p.Ser685=) c.1995C= (p.Ser665=) | |
| 3 | g.52402618G>T | CA433885700 | BAP1 | c.2040C>A (p.Ser680=) c.1986C>A (p.Ser662=) n.713C>A c.239C>A c.612C>A (p.Ser204=) c.2109C>A (p.Ser703=) c.2064C>A (p.Ser688=) c.2055C>A (p.Ser685=) c.1995C>A (p.Ser665=) | |
| 3 | g.52402619G>A | CA353096180 | BAP1 | c.2039C>T (p.Ser680Phe) c.1985C>T (p.Ser662Phe) n.712C>T c.238C>T c.611C>T (p.Ser204Phe) c.2108C>T (p.Ser703Phe) c.2063C>T (p.Ser688Phe) c.2054C>T (p.Ser685Phe) c.1994C>T (p.Ser665Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.52402619G>C | CA353096176 | BAP1 | c.2039C>G (p.Ser680Cys) c.1985C>G (p.Ser662Cys) n.712C>G c.238C>G c.611C>G (p.Ser204Cys) c.2108C>G (p.Ser703Cys) c.2063C>G (p.Ser688Cys) c.2054C>G (p.Ser685Cys) c.1994C>G (p.Ser665Cys) | dbSNP gnomAD v4 |
| 3 | g.52402619G= | CA1364834832 | BAP1 | c.2039C= (p.Ser680=) c.1985C= (p.Ser662=) n.712C= c.238C= c.611C= (p.Ser204=) c.2108C= (p.Ser703=) c.2063C= (p.Ser688=) c.2054C= (p.Ser685=) c.1994C= (p.Ser665=) | |
| 3 | g.52402619G>T | CA353096178 | BAP1 | c.2039C>A (p.Ser680Tyr) c.1985C>A (p.Ser662Tyr) n.712C>A c.238C>A c.611C>A (p.Ser204Tyr) c.2108C>A (p.Ser703Tyr) c.2063C>A (p.Ser688Tyr) c.2054C>A (p.Ser685Tyr) c.1994C>A (p.Ser665Tyr) | dbSNP |
| 3 | g.52402620A>C | CA353096181 | BAP1 | c.2038T>G (p.Ser680Ala) c.1984T>G (p.Ser662Ala) n.711T>G c.237T>G c.610T>G (p.Ser204Ala) c.2107T>G (p.Ser703Ala) c.2062T>G (p.Ser688Ala) c.2053T>G (p.Ser685Ala) c.1993T>G (p.Ser665Ala) | |
| 3 | g.52402620A>G | CA353096183 | BAP1 | c.2038T>C (p.Ser680Pro) c.1984T>C (p.Ser662Pro) n.711T>C c.237T>C c.610T>C (p.Ser204Pro) c.2107T>C (p.Ser703Pro) c.2062T>C (p.Ser688Pro) c.2053T>C (p.Ser685Pro) c.1993T>C (p.Ser665Pro) | dbSNP |
| 3 | g.52402620A>T | CA353096185 | BAP1 | c.2038T>A (p.Ser680Thr) c.1984T>A (p.Ser662Thr) n.711T>A c.237T>A c.610T>A (p.Ser204Thr) c.2107T>A (p.Ser703Thr) c.2062T>A (p.Ser688Thr) c.2053T>A (p.Ser685Thr) c.1993T>A (p.Ser665Thr) | dbSNP |
| 3 | g.52402621G>A | CA433885702 | BAP1 | c.2037C>T (p.Ile679=) c.1983C>T (p.Ile661=) n.710C>T c.236C>T c.609C>T (p.Ile203=) c.2106C>T (p.Ile702=) c.2061C>T (p.Ile687=) c.2052C>T (p.Ile684=) c.1992C>T (p.Ile664=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.52402621G>C | CA353096187 | BAP1 | c.2037C>G (p.Ile679Met) c.1983C>G (p.Ile661Met) n.710C>G c.236C>G c.609C>G (p.Ile203Met) c.2106C>G (p.Ile702Met) c.2061C>G (p.Ile687Met) c.2052C>G (p.Ile684Met) c.1992C>G (p.Ile664Met) | dbSNP |
| 3 | g.52402621G= | CA1364834834 | BAP1 | c.2037C= (p.Ile679=) c.1983C= (p.Ile661=) n.710C= c.236C= c.609C= (p.Ile203=) c.2106C= (p.Ile702=) c.2061C= (p.Ile687=) c.2052C= (p.Ile684=) c.1992C= (p.Ile664=) | |
| 3 | g.52402621G>T | CA2436618 | BAP1 | c.2037C>A (p.Ile679=) c.1983C>A (p.Ile661=) n.710C>A c.236C>A c.609C>A (p.Ile203=) c.2106C>A (p.Ile702=) c.2061C>A (p.Ile687=) c.2052C>A (p.Ile684=) c.1992C>A (p.Ile664=) | ClinVar dbSNP ExAC gnomAD v2 |
| 3 | g.52402622A>C | CA353096189 | BAP1 | c.2036T>G (p.Ile679Ser) c.1982T>G (p.Ile661Ser) n.709T>G c.235T>G c.608T>G (p.Ile203Ser) c.2105T>G (p.Ile702Ser) c.2060T>G (p.Ile687Ser) c.2051T>G (p.Ile684Ser) c.1991T>G (p.Ile664Ser) | |
| 3 | g.52402622A>G | CA353096190 | BAP1 | c.2036T>C (p.Ile679Thr) c.1982T>C (p.Ile661Thr) n.709T>C c.235T>C c.608T>C (p.Ile203Thr) c.2105T>C (p.Ile702Thr) c.2060T>C (p.Ile687Thr) c.2051T>C (p.Ile684Thr) c.1991T>C (p.Ile664Thr) | ClinVar dbSNP gnomAD v4 |
| 3 | g.52402622A>T | CA353096192 | BAP1 | c.2036T>A (p.Ile679Asn) c.1982T>A (p.Ile661Asn) n.709T>A c.235T>A c.608T>A (p.Ile203Asn) c.2105T>A (p.Ile702Asn) c.2060T>A (p.Ile687Asn) c.2051T>A (p.Ile684Asn) c.1991T>A (p.Ile664Asn) | dbSNP |
| 3 | g.52402623T>A | CA353096198 | BAP1 | c.2035A>T (p.Ile679Phe) c.1981A>T (p.Ile661Phe) n.708A>T c.234A>T c.607A>T (p.Ile203Phe) c.2104A>T (p.Ile702Phe) c.2059A>T (p.Ile687Phe) c.2050A>T (p.Ile684Phe) c.1990A>T (p.Ile664Phe) | |
| 3 | g.52402623T>C | CA353096196 | BAP1 | c.2035A>G (p.Ile679Val) c.1981A>G (p.Ile661Val) n.708A>G c.234A>G c.607A>G (p.Ile203Val) c.2104A>G (p.Ile702Val) c.2059A>G (p.Ile687Val) c.2050A>G (p.Ile684Val) c.1990A>G (p.Ile664Val) | ClinVar dbSNP gnomAD v4 |
| 3 | g.52402623T>G | CA353096195 | BAP1 | c.2035A>C (p.Ile679Leu) c.1981A>C (p.Ile661Leu) n.708A>C c.234A>C c.607A>C (p.Ile203Leu) c.2104A>C (p.Ile702Leu) c.2059A>C (p.Ile687Leu) c.2050A>C (p.Ile684Leu) c.1990A>C (p.Ile664Leu) | |
| 3 | g.52402623T= | CA1364834836 | BAP1 | c.2035A= (p.Ile679=) c.1981A= (p.Ile661=) n.708A= c.234A= c.607A= (p.Ile203=) c.2104A= (p.Ile702=) c.2059A= (p.Ile687=) c.2050A= (p.Ile684=) c.1990A= (p.Ile664=) | |
| 3 | g.52402624A>C | CA353096200 | BAP1 | c.2034T>G (p.Phe678Leu) c.1980T>G (p.Phe660Leu) n.707T>G c.233T>G c.606T>G (p.Phe202Leu) c.2103T>G (p.Phe701Leu) c.2058T>G (p.Phe686Leu) c.2049T>G (p.Phe683Leu) c.1989T>G (p.Phe663Leu) | |
| 3 | g.52402624A>G | CA433885703 | BAP1 | c.2034T>C (p.Phe678=) c.1980T>C (p.Phe660=) n.707T>C c.233T>C c.606T>C (p.Phe202=) c.2103T>C (p.Phe701=) c.2058T>C (p.Phe686=) c.2049T>C (p.Phe683=) c.1989T>C (p.Phe663=) | ClinVar dbSNP |
| 3 | g.52402624A>T | CA353096202 | BAP1 | c.2034T>A (p.Phe678Leu) c.1980T>A (p.Phe660Leu) n.707T>A c.233T>A c.606T>A (p.Phe202Leu) c.2103T>A (p.Phe701Leu) c.2058T>A (p.Phe686Leu) c.2049T>A (p.Phe683Leu) c.1989T>A (p.Phe663Leu) | |
| 3 | g.52402626dup | CA2739279930 | BAP1 | c.2034dup (p.Ile679TyrfsTer?) c.1980dup (p.Ile661TyrfsTer?) n.707dup c.233dup c.606dup (p.Ile203TyrfsTer?) c.2103dup (p.Ile702TyrfsTer?) c.2058dup (p.Ile687TyrfsTer?) c.2049dup (p.Ile684TyrfsTer?) c.1989dup (p.Ile664TyrfsTer?) | ClinVar |
| 3 | g.52402625A>C | CA353096203 | BAP1 | c.2033T>G (p.Phe678Cys) c.1979T>G (p.Phe660Cys) n.706T>G c.232T>G c.605T>G (p.Phe202Cys) c.2102T>G (p.Phe701Cys) c.2057T>G (p.Phe686Cys) c.2048T>G (p.Phe683Cys) c.1988T>G (p.Phe663Cys) | |
| 3 | g.52402625A>G | CA353096205 | BAP1 | c.2033T>C (p.Phe678Ser) c.1979T>C (p.Phe660Ser) n.706T>C c.232T>C c.605T>C (p.Phe202Ser) c.2102T>C (p.Phe701Ser) c.2057T>C (p.Phe686Ser) c.2048T>C (p.Phe683Ser) c.1988T>C (p.Phe663Ser) | |
| 3 | g.52402625A>T | CA353096207 | BAP1 | c.2033T>A (p.Phe678Tyr) c.1979T>A (p.Phe660Tyr) n.706T>A c.232T>A c.605T>A (p.Phe202Tyr) c.2102T>A (p.Phe701Tyr) c.2057T>A (p.Phe686Tyr) c.2048T>A (p.Phe683Tyr) c.1988T>A (p.Phe663Tyr) | dbSNP |
| 3 | g.52402626A= | CA1364834838 | BAP1 | c.2032T= (p.Phe678=) c.1978T= (p.Phe660=) n.705T= c.231T= c.604T= (p.Phe202=) c.2101T= (p.Phe701=) c.2056T= (p.Phe686=) c.2047T= (p.Phe683=) c.1987T= (p.Phe663=) | |
| 3 | g.52402626A>C | CA353096209 | BAP1 | c.2032T>G (p.Phe678Val) c.1978T>G (p.Phe660Val) n.705T>G c.231T>G c.604T>G (p.Phe202Val) c.2101T>G (p.Phe701Val) c.2056T>G (p.Phe686Val) c.2047T>G (p.Phe683Val) c.1987T>G (p.Phe663Val) | dbSNP |
| 3 | g.52402626A>G | CA353096210 | BAP1 | c.2032T>C (p.Phe678Leu) c.1978T>C (p.Phe660Leu) n.705T>C c.231T>C c.604T>C (p.Phe202Leu) c.2101T>C (p.Phe701Leu) c.2056T>C (p.Phe686Leu) c.2047T>C (p.Phe683Leu) c.1987T>C (p.Phe663Leu) | dbSNP |
| 3 | g.52402626A>T | CA16611511 | BAP1 | c.2032T>A (p.Phe678Ile) c.1978T>A (p.Phe660Ile) n.705T>A c.231T>A c.604T>A (p.Phe202Ile) c.2101T>A (p.Phe701Ile) c.2056T>A (p.Phe686Ile) c.2047T>A (p.Phe683Ile) c.1987T>A (p.Phe663Ile) | ClinVar dbSNP |
| 3 | g.52402627G>A | CA2436619 | BAP1 | c.2031C>T (p.Thr677=) c.1977C>T (p.Thr659=) n.704C>T c.230C>T c.603C>T (p.Thr201=) c.2100C>T (p.Thr700=) c.2055C>T (p.Thr685=) c.2046C>T (p.Thr682=) c.1986C>T (p.Thr662=) | ClinVar dbSNP ExAC gnomAD v4 |
| 3 | g.52402627G>C | CA433885704 | BAP1 | c.2031C>G (p.Thr677=) c.1977C>G (p.Thr659=) n.704C>G c.230C>G c.603C>G (p.Thr201=) c.2100C>G (p.Thr700=) c.2055C>G (p.Thr685=) c.2046C>G (p.Thr682=) c.1986C>G (p.Thr662=) | dbSNP |
| 3 | g.52402627G= | CA1364834842 | BAP1 | c.2031C= (p.Thr677=) c.1977C= (p.Thr659=) n.704C= c.230C= c.603C= (p.Thr201=) c.2100C= (p.Thr700=) c.2055C= (p.Thr685=) c.2046C= (p.Thr682=) c.1986C= (p.Thr662=) | |
| 3 | g.52402627G>T | CA433885705 | BAP1 | c.2031C>A (p.Thr677=) c.1977C>A (p.Thr659=) n.704C>A c.230C>A c.603C>A (p.Thr201=) c.2100C>A (p.Thr700=) c.2055C>A (p.Thr685=) c.2046C>A (p.Thr682=) c.1986C>A (p.Thr662=) | dbSNP |
| 3 | g.52402628G>A | CA353096213 | BAP1 | c.2030C>T (p.Thr677Ile) c.1976C>T (p.Thr659Ile) n.703C>T c.229C>T c.602C>T (p.Thr201Ile) c.2099C>T (p.Thr700Ile) c.2054C>T (p.Thr685Ile) c.2045C>T (p.Thr682Ile) c.1985C>T (p.Thr662Ile) | ClinVar dbSNP gnomAD v4 |
| 3 | g.52402628G>C | CA353096214 | BAP1 | c.2030C>G (p.Thr677Ser) c.1976C>G (p.Thr659Ser) n.703C>G c.229C>G c.602C>G (p.Thr201Ser) c.2099C>G (p.Thr700Ser) c.2054C>G (p.Thr685Ser) c.2045C>G (p.Thr682Ser) c.1985C>G (p.Thr662Ser) | dbSNP |
| 3 | g.52402628G>T | CA353096215 | BAP1 | c.2030C>A (p.Thr677Asn) c.1976C>A (p.Thr659Asn) n.703C>A c.229C>A c.602C>A (p.Thr201Asn) c.2099C>A (p.Thr700Asn) c.2054C>A (p.Thr685Asn) c.2045C>A (p.Thr682Asn) c.1985C>A (p.Thr662Asn) | ClinVar dbSNP |
| 3 | g.52402629T>A | CA353096218 | BAP1 | c.2029A>T (p.Thr677Ser) c.1975A>T (p.Thr659Ser) n.702A>T c.228A>T c.601A>T (p.Thr201Ser) c.2098A>T (p.Thr700Ser) c.2053A>T (p.Thr685Ser) c.2044A>T (p.Thr682Ser) c.1984A>T (p.Thr662Ser) | dbSNP |
| 3 | g.52402629T>C | CA353096219 | BAP1 | c.2029A>G (p.Thr677Ala) c.1975A>G (p.Thr659Ala) n.702A>G c.228A>G c.601A>G (p.Thr201Ala) c.2098A>G (p.Thr700Ala) c.2053A>G (p.Thr685Ala) c.2044A>G (p.Thr682Ala) c.1984A>G (p.Thr662Ala) | |
| 3 | g.52402629T>G | CA353096216 | BAP1 | c.2029A>C (p.Thr677Pro) c.1975A>C (p.Thr659Pro) n.702A>C c.228A>C c.601A>C (p.Thr201Pro) c.2098A>C (p.Thr700Pro) c.2053A>C (p.Thr685Pro) c.2044A>C (p.Thr682Pro) c.1984A>C (p.Thr662Pro) | dbSNP |
| 3 | g.52402631_52402651del | CA645529867 | BAP1 | c.2009_2029del (p.Asn670_Cys676del) c.1955_1975del (p.Asn652_Cys658del) n.682_702del c.208_228del c.581_601del (p.Asn194_Cys200del) c.2078_2098del (p.Asn693_Cys699del) c.2033_2053del (p.Asn678_Cys684del) c.2024_2044del (p.Asn675_Cys681del) c.1964_1984del (p.Asn655_Cys661del) | COSMIC |
| 3 | g.52402630G>A | CA433885706 | BAP1 | c.2028C>T (p.Cys676=) c.1974C>T (p.Cys658=) n.701C>T c.227C>T c.600C>T (p.Cys200=) c.2097C>T (p.Cys699=) c.2052C>T (p.Cys684=) c.2043C>T (p.Cys681=) c.1983C>T (p.Cys661=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.52402630G>C | CA353096220 | BAP1 | c.2028C>G (p.Cys676Trp) c.1974C>G (p.Cys658Trp) n.701C>G c.227C>G c.600C>G (p.Cys200Trp) c.2097C>G (p.Cys699Trp) c.2052C>G (p.Cys684Trp) c.2043C>G (p.Cys681Trp) c.1983C>G (p.Cys661Trp) | dbSNP |
| 3 | g.52402630G= | CA1364834844 | BAP1 | c.2028C= (p.Cys676=) c.1974C= (p.Cys658=) n.701C= c.227C= c.600C= (p.Cys200=) c.2097C= (p.Cys699=) c.2052C= (p.Cys684=) c.2043C= (p.Cys681=) c.1983C= (p.Cys661=) | |
| 3 | g.52402630G>T | CA353096221 | BAP1 | c.2028C>A (p.Cys676Ter) c.1974C>A (p.Cys658Ter) n.701C>A c.227C>A c.600C>A (p.Cys200Ter) c.2097C>A (p.Cys699Ter) c.2052C>A (p.Cys684Ter) c.2043C>A (p.Cys681Ter) c.1983C>A (p.Cys661Ter) | |
| 3 | g.52402631C>A | CA353096223 | BAP1 | c.2027G>T (p.Cys676Phe) c.1973G>T (p.Cys658Phe) n.700G>T c.226G>T c.599G>T (p.Cys200Phe) c.2096G>T (p.Cys699Phe) c.2051G>T (p.Cys684Phe) c.2042G>T (p.Cys681Phe) c.1982G>T (p.Cys661Phe) | dbSNP |
| 3 | g.52402631C>G | CA353096225 | BAP1 | c.2027G>C (p.Cys676Ser) c.1973G>C (p.Cys658Ser) n.700G>C c.226G>C c.599G>C (p.Cys200Ser) c.2096G>C (p.Cys699Ser) c.2051G>C (p.Cys684Ser) c.2042G>C (p.Cys681Ser) c.1982G>C (p.Cys661Ser) | dbSNP |
| 3 | g.52402631C>T | CA353096226 | BAP1 | c.2027G>A (p.Cys676Tyr) c.1973G>A (p.Cys658Tyr) n.700G>A c.226G>A c.599G>A (p.Cys200Tyr) c.2096G>A (p.Cys699Tyr) c.2051G>A (p.Cys684Tyr) c.2042G>A (p.Cys681Tyr) c.1982G>A (p.Cys661Tyr) | dbSNP |
| 3 | g.52402632A= | CA1364834847 | BAP1 | c.2026T= (p.Cys676=) c.1972T= (p.Cys658=) n.699T= c.225T= c.598T= (p.Cys200=) c.2095T= (p.Cys699=) c.2050T= (p.Cys684=) c.2041T= (p.Cys681=) c.1981T= (p.Cys661=) | |
| 3 | g.52402632A>C | CA353096228 | BAP1 | c.2026T>G (p.Cys676Gly) c.1972T>G (p.Cys658Gly) n.699T>G c.225T>G c.598T>G (p.Cys200Gly) c.2095T>G (p.Cys699Gly) c.2050T>G (p.Cys684Gly) c.2041T>G (p.Cys681Gly) c.1981T>G (p.Cys661Gly) | |
| 3 | g.52402632A>G | CA16611327 | BAP1 | c.2026T>C (p.Cys676Arg) c.1972T>C (p.Cys658Arg) n.699T>C c.225T>C c.598T>C (p.Cys200Arg) c.2095T>C (p.Cys699Arg) c.2050T>C (p.Cys684Arg) c.2041T>C (p.Cys681Arg) c.1981T>C (p.Cys661Arg) | ClinVar dbSNP |
| 3 | g.52402632A>T | CA353096230 | BAP1 | c.2026T>A (p.Cys676Ser) c.1972T>A (p.Cys658Ser) n.699T>A c.225T>A c.598T>A (p.Cys200Ser) c.2095T>A (p.Cys699Ser) c.2050T>A (p.Cys684Ser) c.2041T>A (p.Cys681Ser) c.1981T>A (p.Cys661Ser) | |
| 3 | g.52402633G>A | CA433885707 | BAP1 | c.2025C>T (p.Ile675=) c.1971C>T (p.Ile657=) n.698C>T c.224C>T c.597C>T (p.Ile199=) c.2094C>T (p.Ile698=) c.2049C>T (p.Ile683=) c.2040C>T (p.Ile680=) c.1980C>T (p.Ile660=) | dbSNP |
| 3 | g.52402633G>C | CA353096232 | BAP1 | c.2025C>G (p.Ile675Met) c.1971C>G (p.Ile657Met) n.698C>G c.224C>G c.597C>G (p.Ile199Met) c.2094C>G (p.Ile698Met) c.2049C>G (p.Ile683Met) c.2040C>G (p.Ile680Met) c.1980C>G (p.Ile660Met) | dbSNP |
| 3 | g.52402633G= | CA1364834849 | BAP1 | c.2025C= (p.Ile675=) c.1971C= (p.Ile657=) n.698C= c.224C= c.597C= (p.Ile199=) c.2094C= (p.Ile698=) c.2049C= (p.Ile683=) c.2040C= (p.Ile680=) c.1980C= (p.Ile660=) | |
| 3 | g.52402633G>T | CA433885708 | BAP1 | c.2025C>A (p.Ile675=) c.1971C>A (p.Ile657=) n.698C>A c.224C>A c.597C>A (p.Ile199=) c.2094C>A (p.Ile698=) c.2049C>A (p.Ile683=) c.2040C>A (p.Ile680=) c.1980C>A (p.Ile660=) | ClinVar |
| 3 | g.52402634A>C | CA353096234 | BAP1 | c.2024T>G (p.Ile675Ser) c.1970T>G (p.Ile657Ser) n.697T>G c.223T>G c.596T>G (p.Ile199Ser) c.2093T>G (p.Ile698Ser) c.2048T>G (p.Ile683Ser) c.2039T>G (p.Ile680Ser) c.1979T>G (p.Ile660Ser) | ClinVar |
| 3 | g.52402634A>G | CA353096235 | BAP1 | c.2024T>C (p.Ile675Thr) c.1970T>C (p.Ile657Thr) n.697T>C c.223T>C c.596T>C (p.Ile199Thr) c.2093T>C (p.Ile698Thr) c.2048T>C (p.Ile683Thr) c.2039T>C (p.Ile680Thr) c.1979T>C (p.Ile660Thr) | |
| 3 | g.52402634A>T | CA353096237 | BAP1 | c.2024T>A (p.Ile675Asn) c.1970T>A (p.Ile657Asn) n.697T>A c.223T>A c.596T>A (p.Ile199Asn) c.2093T>A (p.Ile698Asn) c.2048T>A (p.Ile683Asn) c.2039T>A (p.Ile680Asn) c.1979T>A (p.Ile660Asn) | dbSNP |
| 3 | g.52402635T>A | CA353096240 | BAP1 | c.2023A>T (p.Ile675Phe) c.1969A>T (p.Ile657Phe) n.696A>T c.222A>T c.595A>T (p.Ile199Phe) c.2092A>T (p.Ile698Phe) c.2047A>T (p.Ile683Phe) c.2038A>T (p.Ile680Phe) c.1978A>T (p.Ile660Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.52402635T>C | CA353096238 | BAP1 | c.2023A>G (p.Ile675Val) c.1969A>G (p.Ile657Val) n.696A>G c.222A>G c.595A>G (p.Ile199Val) c.2092A>G (p.Ile698Val) c.2047A>G (p.Ile683Val) c.2038A>G (p.Ile680Val) c.1978A>G (p.Ile660Val) | |
| 3 | g.52402635T>G | CA353096239 | BAP1 | c.2023A>C (p.Ile675Leu) c.1969A>C (p.Ile657Leu) n.696A>C c.222A>C c.595A>C (p.Ile199Leu) c.2092A>C (p.Ile698Leu) c.2047A>C (p.Ile683Leu) c.2038A>C (p.Ile680Leu) c.1978A>C (p.Ile660Leu) | dbSNP |
| 3 | g.52402635T= | CA1364834851 | BAP1 | c.2023A= (p.Ile675=) c.1969A= (p.Ile657=) n.696A= c.222A= c.595A= (p.Ile199=) c.2092A= (p.Ile698=) c.2047A= (p.Ile683=) c.2038A= (p.Ile680=) c.1978A= (p.Ile660=) | |
| 3 | g.52402635_52402636insATT | CA645529868 | BAP1 | c.2023_2024insATA (p.Phe674_Ile675insAsn) c.1969_1970insATA (p.Phe656_Ile657insAsn) n.696_697insATA c.222_223insATA c.595_596insATA (p.Phe198_Ile199insAsn) c.2092_2093insATA (p.Phe697_Ile698insAsn) c.2047_2048insATA (p.Phe682_Ile683insAsn) c.2038_2039insATA (p.Phe679_Ile680insAsn) c.1978_1979insATA (p.Phe659_Ile660insAsn) | COSMIC |
| 3 | g.52402636G>A | CA433885709 | BAP1 | c.2022C>T (p.Phe674=) c.1968C>T (p.Phe656=) n.695C>T c.221C>T c.594C>T (p.Phe198=) c.2091C>T (p.Phe697=) c.2046C>T (p.Phe682=) c.2037C>T (p.Phe679=) c.1977C>T (p.Phe659=) | dbSNP |
| 3 | g.52402636G>C | CA353096242 | BAP1 | c.2022C>G (p.Phe674Leu) c.1968C>G (p.Phe656Leu) n.695C>G c.221C>G c.594C>G (p.Phe198Leu) c.2091C>G (p.Phe697Leu) c.2046C>G (p.Phe682Leu) c.2037C>G (p.Phe679Leu) c.1977C>G (p.Phe659Leu) | dbSNP |
| 3 | g.52402636G>T | CA353096244 | BAP1 | c.2022C>A (p.Phe674Leu) c.1968C>A (p.Phe656Leu) n.695C>A c.221C>A c.594C>A (p.Phe198Leu) c.2091C>A (p.Phe697Leu) c.2046C>A (p.Phe682Leu) c.2037C>A (p.Phe679Leu) c.1977C>A (p.Phe659Leu) | dbSNP |
| 3 | g.52402637A>C | CA353096246 | BAP1 | c.2021T>G (p.Phe674Cys) c.1967T>G (p.Phe656Cys) n.694T>G c.220T>G c.593T>G (p.Phe198Cys) c.2090T>G (p.Phe697Cys) c.2045T>G (p.Phe682Cys) c.2036T>G (p.Phe679Cys) c.1976T>G (p.Phe659Cys) | gnomAD v4 |
| 3 | g.52402637A>G | CA353096247 | BAP1 | c.2021T>C (p.Phe674Ser) c.1967T>C (p.Phe656Ser) n.694T>C c.220T>C c.593T>C (p.Phe198Ser) c.2090T>C (p.Phe697Ser) c.2045T>C (p.Phe682Ser) c.2036T>C (p.Phe679Ser) c.1976T>C (p.Phe659Ser) | |
| 3 | g.52402637A>T | CA353096248 | BAP1 | c.2021T>A (p.Phe674Tyr) c.1967T>A (p.Phe656Tyr) n.694T>A c.220T>A c.593T>A (p.Phe198Tyr) c.2090T>A (p.Phe697Tyr) c.2045T>A (p.Phe682Tyr) c.2036T>A (p.Phe679Tyr) c.1976T>A (p.Phe659Tyr) | dbSNP |
| 3 | g.52402638A>C | CA353096250 | BAP1 | c.2020T>G (p.Phe674Val) c.1966T>G (p.Phe656Val) n.693T>G c.219T>G c.592T>G (p.Phe198Val) c.2089T>G (p.Phe697Val) c.2044T>G (p.Phe682Val) c.2035T>G (p.Phe679Val) c.1975T>G (p.Phe659Val) | dbSNP |
| 3 | g.52402638A>G | CA353096252 | BAP1 | c.2020T>C (p.Phe674Leu) c.1966T>C (p.Phe656Leu) n.693T>C c.219T>C c.592T>C (p.Phe198Leu) c.2089T>C (p.Phe697Leu) c.2044T>C (p.Phe682Leu) c.2035T>C (p.Phe679Leu) c.1975T>C (p.Phe659Leu) | |
| 3 | g.52402638A>T | CA353096254 | BAP1 | c.2020T>A (p.Phe674Ile) c.1966T>A (p.Phe656Ile) n.693T>A c.219T>A c.592T>A (p.Phe198Ile) c.2089T>A (p.Phe697Ile) c.2044T>A (p.Phe682Ile) c.2035T>A (p.Phe679Ile) c.1975T>A (p.Phe659Ile) | dbSNP |
| 3 | g.52402639C>A | CA353096256 | BAP1 | c.2019G>T (p.Glu673Asp) c.1965G>T (p.Glu655Asp) n.692G>T c.218G>T c.591G>T (p.Glu197Asp) c.2088G>T (p.Glu696Asp) c.2043G>T (p.Glu681Asp) c.2034G>T (p.Glu678Asp) c.1974G>T (p.Glu658Asp) | dbSNP |
| 3 | g.52402639C= | CA1364834853 | BAP1 | c.2019G= (p.Glu673=) c.1965G= (p.Glu655=) n.692G= c.218G= c.591G= (p.Glu197=) c.2088G= (p.Glu696=) c.2043G= (p.Glu681=) c.2034G= (p.Glu678=) c.1974G= (p.Glu658=) | |
| 3 | g.52402639C>G | CA353096257 | BAP1 | c.2019G>C (p.Glu673Asp) c.1965G>C (p.Glu655Asp) n.692G>C c.218G>C c.591G>C (p.Glu197Asp) c.2088G>C (p.Glu696Asp) c.2043G>C (p.Glu681Asp) c.2034G>C (p.Glu678Asp) c.1974G>C (p.Glu658Asp) | dbSNP |
| 3 | g.52402639C>T | CA433885710 | BAP1 | c.2019G>A (p.Glu673=) c.1965G>A (p.Glu655=) n.692G>A c.218G>A c.591G>A (p.Glu197=) c.2088G>A (p.Glu696=) c.2043G>A (p.Glu681=) c.2034G>A (p.Glu678=) c.1974G>A (p.Glu658=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.52402640T>A | CA353096259 | BAP1 | c.2018A>T (p.Glu673Val) c.1964A>T (p.Glu655Val) n.691A>T c.217A>T c.590A>T (p.Glu197Val) c.2087A>T (p.Glu696Val) c.2042A>T (p.Glu681Val) c.2033A>T (p.Glu678Val) c.1973A>T (p.Glu658Val) | dbSNP |
| 3 | g.52402640T>C | CA353096262 | BAP1 | c.2018A>G (p.Glu673Gly) c.1964A>G (p.Glu655Gly) n.691A>G c.217A>G c.590A>G (p.Glu197Gly) c.2087A>G (p.Glu696Gly) c.2042A>G (p.Glu681Gly) c.2033A>G (p.Glu678Gly) c.1973A>G (p.Glu658Gly) | |
| 3 | g.52402640T>G | CA353096263 | BAP1 | c.2018A>C (p.Glu673Ala) c.1964A>C (p.Glu655Ala) n.691A>C c.217A>C c.590A>C (p.Glu197Ala) c.2087A>C (p.Glu696Ala) c.2042A>C (p.Glu681Ala) c.2033A>C (p.Glu678Ala) c.1973A>C (p.Glu658Ala) | |
| 3 | g.52402641C>A | CA353096267 | BAP1 | c.2017G>T (p.Glu673Ter) c.1963G>T (p.Glu655Ter) n.690G>T c.216G>T c.589G>T (p.Glu197Ter) c.2086G>T (p.Glu696Ter) c.2041G>T (p.Glu681Ter) c.2032G>T (p.Glu678Ter) c.1972G>T (p.Glu658Ter) | ClinVar dbSNP |
| 3 | g.52402641C>G | CA353096269 | BAP1 | c.2017G>C (p.Glu673Gln) c.1963G>C (p.Glu655Gln) n.690G>C c.216G>C c.589G>C (p.Glu197Gln) c.2086G>C (p.Glu696Gln) c.2041G>C (p.Glu681Gln) c.2032G>C (p.Glu678Gln) c.1972G>C (p.Glu658Gln) | dbSNP |
| 3 | g.52402641C>T | CA353096265 | BAP1 | c.2017G>A (p.Glu673Lys) c.1963G>A (p.Glu655Lys) n.690G>A c.216G>A c.589G>A (p.Glu197Lys) c.2086G>A (p.Glu696Lys) c.2041G>A (p.Glu681Lys) c.2032G>A (p.Glu678Lys) c.1972G>A (p.Glu658Lys) | dbSNP |
| 3 | g.52402642A= | CA1364834856 | BAP1 | c.2016T= (p.Asp672=) c.1962T= (p.Asp654=) n.689T= c.215T= c.588T= (p.Asp196=) c.2085T= (p.Asp695=) c.2040T= (p.Asp680=) c.2031T= (p.Asp677=) c.1971T= (p.Asp657=) | |
| 3 | g.52402642A>C | CA353096274 | BAP1 | c.2016T>G (p.Asp672Glu) c.1962T>G (p.Asp654Glu) n.689T>G c.215T>G c.588T>G (p.Asp196Glu) c.2085T>G (p.Asp695Glu) c.2040T>G (p.Asp680Glu) c.2031T>G (p.Asp677Glu) c.1971T>G (p.Asp657Glu) | |
| 3 | g.52402642A>G | CA433885711 | BAP1 | c.2016T>C (p.Asp672=) c.1962T>C (p.Asp654=) n.689T>C c.215T>C c.588T>C (p.Asp196=) c.2085T>C (p.Asp695=) c.2040T>C (p.Asp680=) c.2031T>C (p.Asp677=) c.1971T>C (p.Asp657=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.52402642A>T | CA353096270 | BAP1 | c.2016T>A (p.Asp672Glu) c.1962T>A (p.Asp654Glu) n.689T>A c.215T>A c.588T>A (p.Asp196Glu) c.2085T>A (p.Asp695Glu) c.2040T>A (p.Asp680Glu) c.2031T>A (p.Asp677Glu) c.1971T>A (p.Asp657Glu) | ClinVar dbSNP |
| 3 | g.52402643T>A | CA353096279 | BAP1 | c.2015A>T (p.Asp672Val) c.1961A>T (p.Asp654Val) n.688A>T c.214A>T c.587A>T (p.Asp196Val) c.2084A>T (p.Asp695Val) c.2039A>T (p.Asp680Val) c.2030A>T (p.Asp677Val) c.1970A>T (p.Asp657Val) | dbSNP gnomAD v4 |
| 3 | g.52402643T>C | CA353096276 | BAP1 | c.2015A>G (p.Asp672Gly) c.1961A>G (p.Asp654Gly) n.688A>G c.214A>G c.587A>G (p.Asp196Gly) c.2084A>G (p.Asp695Gly) c.2039A>G (p.Asp680Gly) c.2030A>G (p.Asp677Gly) c.1970A>G (p.Asp657Gly) | ClinVar COSMIC |
| 3 | g.52402643T>G | CA353096278 | BAP1 | c.2015A>C (p.Asp672Ala) c.1961A>C (p.Asp654Ala) n.688A>C c.214A>C c.587A>C (p.Asp196Ala) c.2084A>C (p.Asp695Ala) c.2039A>C (p.Asp680Ala) c.2030A>C (p.Asp677Ala) c.1970A>C (p.Asp657Ala) | |
| 3 | g.52402644C>A | CA353096281 | BAP1 | c.2014G>T (p.Asp672Tyr) c.1960G>T (p.Asp654Tyr) n.687G>T c.213G>T c.586G>T (p.Asp196Tyr) c.2083G>T (p.Asp695Tyr) c.2038G>T (p.Asp680Tyr) c.2029G>T (p.Asp677Tyr) c.1969G>T (p.Asp657Tyr) | |
| 3 | g.52402644C= | CA1364834859 | BAP1 | c.2014G= (p.Asp672=) c.1960G= (p.Asp654=) n.687G= c.213G= c.586G= (p.Asp196=) c.2083G= (p.Asp695=) c.2038G= (p.Asp680=) c.2029G= (p.Asp677=) c.1969G= (p.Asp657=) | |
| 3 | g.52402644C>G | CA353096283 | BAP1 | c.2014G>C (p.Asp672His) c.1960G>C (p.Asp654His) n.687G>C c.213G>C c.586G>C (p.Asp196His) c.2083G>C (p.Asp695His) c.2038G>C (p.Asp680His) c.2029G>C (p.Asp677His) c.1969G>C (p.Asp657His) | ClinVar dbSNP |
| 3 | g.52402644C>T | CA2436620 | BAP1 | c.2014G>A (p.Asp672Asn) c.1960G>A (p.Asp654Asn) n.687G>A c.213G>A c.586G>A (p.Asp196Asn) c.2083G>A (p.Asp695Asn) c.2038G>A (p.Asp680Asn) c.2029G>A (p.Asp677Asn) c.1969G>A (p.Asp657Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.52402645G>A | CA2436621 | BAP1 | c.2013C>T (p.Tyr671=) c.1959C>T (p.Tyr653=) n.686C>T c.212C>T c.585C>T (p.Tyr195=) c.2082C>T (p.Tyr694=) c.2037C>T (p.Tyr679=) c.2028C>T (p.Tyr676=) c.1968C>T (p.Tyr656=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.52402645G>C | CA353096286 | BAP1 | c.2013C>G (p.Tyr671Ter) c.1959C>G (p.Tyr653Ter) n.686C>G c.212C>G c.585C>G (p.Tyr195Ter) c.2082C>G (p.Tyr694Ter) c.2037C>G (p.Tyr679Ter) c.2028C>G (p.Tyr676Ter) c.1968C>G (p.Tyr656Ter) | dbSNP |
| 3 | g.52402645G= | CA1364834862 | BAP1 | c.2013C= (p.Tyr671=) c.1959C= (p.Tyr653=) n.686C= c.212C= c.585C= (p.Tyr195=) c.2082C= (p.Tyr694=) c.2037C= (p.Tyr679=) c.2028C= (p.Tyr676=) c.1968C= (p.Tyr656=) | |
| 3 | g.52402645G>T | CA353096288 | BAP1 | c.2013C>A (p.Tyr671Ter) c.1959C>A (p.Tyr653Ter) n.686C>A c.212C>A c.585C>A (p.Tyr195Ter) c.2082C>A (p.Tyr694Ter) c.2037C>A (p.Tyr679Ter) c.2028C>A (p.Tyr676Ter) c.1968C>A (p.Tyr656Ter) | dbSNP |
| 3 | g.52402646del | CA2580070179 | BAP1 | c.2012del (p.Tyr671SerfsTer21) c.1958del (p.Tyr653SerfsTer21) n.685del c.211del c.584del (p.Tyr195SerfsTer21) c.2081del (p.Tyr694SerfsTer21) c.2036del (p.Tyr679SerfsTer21) c.2027del (p.Tyr676SerfsTer21) c.1967del (p.Tyr656SerfsTer21) | ClinVar |
| 3 | g.52402646T>A | CA353096290 | BAP1 | c.2012A>T (p.Tyr671Phe) c.1958A>T (p.Tyr653Phe) n.685A>T c.211A>T c.584A>T (p.Tyr195Phe) c.2081A>T (p.Tyr694Phe) c.2036A>T (p.Tyr679Phe) c.2027A>T (p.Tyr676Phe) c.1967A>T (p.Tyr656Phe) | dbSNP |
| 3 | g.52402646T>C | CA353096291 | BAP1 | c.2012A>G (p.Tyr671Cys) c.1958A>G (p.Tyr653Cys) n.685A>G c.211A>G c.584A>G (p.Tyr195Cys) c.2081A>G (p.Tyr694Cys) c.2036A>G (p.Tyr679Cys) c.2027A>G (p.Tyr676Cys) c.1967A>G (p.Tyr656Cys) | dbSNP |
| 3 | g.52402646T>G | CA353096293 | BAP1 | c.2012A>C (p.Tyr671Ser) c.1958A>C (p.Tyr653Ser) n.685A>C c.211A>C c.584A>C (p.Tyr195Ser) c.2081A>C (p.Tyr694Ser) c.2036A>C (p.Tyr679Ser) c.2027A>C (p.Tyr676Ser) c.1967A>C (p.Tyr656Ser) | dbSNP |
| 3 | g.52402647A>C | CA353096295 | BAP1 | c.2011T>G (p.Tyr671Asp) c.1957T>G (p.Tyr653Asp) n.684T>G c.210T>G c.583T>G (p.Tyr195Asp) c.2080T>G (p.Tyr694Asp) c.2035T>G (p.Tyr679Asp) c.2026T>G (p.Tyr676Asp) c.1966T>G (p.Tyr656Asp) | |
| 3 | g.52402647A>G | CA353096296 | BAP1 | c.2011T>C (p.Tyr671His) c.1957T>C (p.Tyr653His) n.684T>C c.210T>C c.583T>C (p.Tyr195His) c.2080T>C (p.Tyr694His) c.2035T>C (p.Tyr679His) c.2026T>C (p.Tyr676His) c.1966T>C (p.Tyr656His) | dbSNP |
| 3 | g.52402647A>T | CA353096298 | BAP1 | c.2011T>A (p.Tyr671Asn) c.1957T>A (p.Tyr653Asn) n.684T>A c.210T>A c.583T>A (p.Tyr195Asn) c.2080T>A (p.Tyr694Asn) c.2035T>A (p.Tyr679Asn) c.2026T>A (p.Tyr676Asn) c.1966T>A (p.Tyr656Asn) | dbSNP |
| 3 | g.52402648G>A | CA433885712 | BAP1 | c.2010C>T (p.Asn670=) c.1956C>T (p.Asn652=) n.683C>T c.209C>T c.582C>T (p.Asn194=) c.2079C>T (p.Asn693=) c.2034C>T (p.Asn678=) c.2025C>T (p.Asn675=) c.1965C>T (p.Asn655=) | |
| 3 | g.52402648G>C | CA353096300 | BAP1 | c.2010C>G (p.Asn670Lys) c.1956C>G (p.Asn652Lys) n.683C>G c.209C>G c.582C>G (p.Asn194Lys) c.2079C>G (p.Asn693Lys) c.2034C>G (p.Asn678Lys) c.2025C>G (p.Asn675Lys) c.1965C>G (p.Asn655Lys) | ClinVar dbSNP |
| 3 | g.52402648G>T | CA353096301 | BAP1 | c.2010C>A (p.Asn670Lys) c.1956C>A (p.Asn652Lys) n.683C>A c.209C>A c.582C>A (p.Asn194Lys) c.2079C>A (p.Asn693Lys) c.2034C>A (p.Asn678Lys) c.2025C>A (p.Asn675Lys) c.1965C>A (p.Asn655Lys) | |
| 3 | g.52402649T>A | CA353096303 | BAP1 | c.2009A>T (p.Asn670Ile) c.1955A>T (p.Asn652Ile) n.682A>T c.208A>T c.581A>T (p.Asn194Ile) c.2078A>T (p.Asn693Ile) c.2033A>T (p.Asn678Ile) c.2024A>T (p.Asn675Ile) c.1964A>T (p.Asn655Ile) | dbSNP |
| 3 | g.52402649T>C | CA353096305 | BAP1 | c.2009A>G (p.Asn670Ser) c.1955A>G (p.Asn652Ser) n.682A>G c.208A>G c.581A>G (p.Asn194Ser) c.2078A>G (p.Asn693Ser) c.2033A>G (p.Asn678Ser) c.2024A>G (p.Asn675Ser) c.1964A>G (p.Asn655Ser) | gnomAD v4 |
| 3 | g.52402649T>G | CA353096307 | BAP1 | c.2009A>C (p.Asn670Thr) c.1955A>C (p.Asn652Thr) n.682A>C c.208A>C c.581A>C (p.Asn194Thr) c.2078A>C (p.Asn693Thr) c.2033A>C (p.Asn678Thr) c.2024A>C (p.Asn675Thr) c.1964A>C (p.Asn655Thr) | dbSNP |
| 3 | g.52402650T>A | CA353096308 | BAP1 | c.2008A>T (p.Asn670Tyr) c.1954A>T (p.Asn652Tyr) n.681A>T c.207A>T c.580A>T (p.Asn194Tyr) c.2077A>T (p.Asn693Tyr) c.2032A>T (p.Asn678Tyr) c.2023A>T (p.Asn675Tyr) c.1963A>T (p.Asn655Tyr) | |
| 3 | g.52402650T>C | CA353096310 | BAP1 | c.2008A>G (p.Asn670Asp) c.1954A>G (p.Asn652Asp) n.681A>G c.207A>G c.580A>G (p.Asn194Asp) c.2077A>G (p.Asn693Asp) c.2032A>G (p.Asn678Asp) c.2023A>G (p.Asn675Asp) c.1963A>G (p.Asn655Asp) | dbSNP gnomAD v4 |
| 3 | g.52402650T>G | CA353096312 | BAP1 | c.2008A>C (p.Asn670His) c.1954A>C (p.Asn652His) n.681A>C c.207A>C c.580A>C (p.Asn194His) c.2077A>C (p.Asn693His) c.2032A>C (p.Asn678His) c.2023A>C (p.Asn675His) c.1963A>C (p.Asn655His) | |
| 3 | g.52402651G>A | CA433885713 | BAP1 | c.2007C>T (p.His669=) c.1953C>T (p.His651=) n.680C>T c.206C>T c.579C>T (p.His193=) c.2076C>T (p.His692=) c.2031C>T (p.His677=) c.2022C>T (p.His674=) c.1962C>T (p.His654=) | dbSNP |
| 3 | g.52402651G>C | CA353096314 | BAP1 | c.2007C>G (p.His669Gln) c.1953C>G (p.His651Gln) n.680C>G c.206C>G c.579C>G (p.His193Gln) c.2076C>G (p.His692Gln) c.2031C>G (p.His677Gln) c.2022C>G (p.His674Gln) c.1962C>G (p.His654Gln) | dbSNP |
| 3 | g.52402651G>T | CA353096315 | BAP1 | c.2007C>A (p.His669Gln) c.1953C>A (p.His651Gln) n.680C>A c.206C>A c.579C>A (p.His193Gln) c.2076C>A (p.His692Gln) c.2031C>A (p.His677Gln) c.2022C>A (p.His674Gln) c.1962C>A (p.His654Gln) | |
| 3 | g.52402652T>A | CA353096317 | BAP1 | c.2006A>T (p.His669Leu) c.1952A>T (p.His651Leu) n.679A>T c.205A>T c.578A>T (p.His193Leu) c.2075A>T (p.His692Leu) c.2030A>T (p.His677Leu) c.2021A>T (p.His674Leu) c.1961A>T (p.His654Leu) | |
| 3 | g.52402652T>C | CA353096319 | BAP1 | c.2006A>G (p.His669Arg) c.1952A>G (p.His651Arg) n.679A>G c.205A>G c.578A>G (p.His193Arg) c.2075A>G (p.His692Arg) c.2030A>G (p.His677Arg) c.2021A>G (p.His674Arg) c.1961A>G (p.His654Arg) | |
| 3 | g.52402652T>G | CA353096321 | BAP1 | c.2006A>C (p.His669Pro) c.1952A>C (p.His651Pro) n.679A>C c.205A>C c.578A>C (p.His193Pro) c.2075A>C (p.His692Pro) c.2030A>C (p.His677Pro) c.2021A>C (p.His674Pro) c.1961A>C (p.His654Pro) | |
| 3 | g.52402652T= | CA1364834866 | BAP1 | c.2006A= (p.His669=) c.1952A= (p.His651=) n.679A= c.205A= c.578A= (p.His193=) c.2075A= (p.His692=) c.2030A= (p.His677=) c.2021A= (p.His674=) c.1961A= (p.His654=) | |
| 3 | g.52402653G>A | CA2436622 | BAP1 | c.2005C>T (p.His669Tyr) c.1951C>T (p.His651Tyr) n.678C>T c.204C>T c.577C>T (p.His193Tyr) c.2074C>T (p.His692Tyr) c.2029C>T (p.His677Tyr) c.2020C>T (p.His674Tyr) c.1960C>T (p.His654Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.52402653G>C | CA353096324 | BAP1 | c.2005C>G (p.His669Asp) c.1951C>G (p.His651Asp) n.678C>G c.204C>G c.577C>G (p.His193Asp) c.2074C>G (p.His692Asp) c.2029C>G (p.His677Asp) c.2020C>G (p.His674Asp) c.1960C>G (p.His654Asp) | ClinVar |
| 3 | g.52402653G= | CA1364834876 | BAP1 | c.2005C= (p.His669=) c.1951C= (p.His651=) n.678C= c.204C= c.577C= (p.His193=) c.2074C= (p.His692=) c.2029C= (p.His677=) c.2020C= (p.His674=) c.1960C= (p.His654=) | |
| 3 | g.52402653G>T | CA353096322 | BAP1 | c.2005C>A (p.His669Asn) c.1951C>A (p.His651Asn) n.678C>A c.204C>A c.577C>A (p.His193Asn) c.2074C>A (p.His692Asn) c.2029C>A (p.His677Asn) c.2020C>A (p.His674Asn) c.1960C>A (p.His654Asn) | dbSNP gnomAD v4 |
| 3 | g.52402653_52402661del | CA645529869 | BAP1 | c.1997_2005del (p.Arg666_His669delinsAsn) c.1943_1951del (p.Arg648_His651delinsAsn) n.670_678del c.196_204del c.569_577del (p.Arg190_His193delinsAsn) c.2066_2074del (p.Arg689_His692delinsAsn) c.2021_2029del (p.Arg674_His677delinsAsn) c.2012_2020del (p.Arg671_His674delinsAsn) c.1952_1960del (p.Arg651_His654delinsAsn) | COSMIC |
| 3 | g.52402655_52402681dup | CA913188115 | BAP1 | c.1984-5_2005dup c.1930-5_1951dup n.657-5_678dup c.183-5_204dup c.556-5_577dup c.2053-5_2074dup c.2008-5_2029dup c.1999-5_2020dup c.1939-5_1960dup | ClinVar dbSNP |
| 3 | g.52402654G>A | CA433885714 | BAP1 | c.2004C>T (p.Thr668=) c.1950C>T (p.Thr650=) n.677C>T c.203C>T c.576C>T (p.Thr192=) c.2073C>T (p.Thr691=) c.2028C>T (p.Thr676=) c.2019C>T (p.Thr673=) c.1959C>T (p.Thr653=) | ClinVar dbSNP |
| 3 | g.52402654G>C | CA433885715 | BAP1 | c.2004C>G (p.Thr668=) c.1950C>G (p.Thr650=) n.677C>G c.203C>G c.576C>G (p.Thr192=) c.2073C>G (p.Thr691=) c.2028C>G (p.Thr676=) c.2019C>G (p.Thr673=) c.1959C>G (p.Thr653=) | dbSNP |
| 3 | g.52402654G>T | CA433885716 | BAP1 | c.2004C>A (p.Thr668=) c.1950C>A (p.Thr650=) n.677C>A c.203C>A c.576C>A (p.Thr192=) c.2073C>A (p.Thr691=) c.2028C>A (p.Thr676=) c.2019C>A (p.Thr673=) c.1959C>A (p.Thr653=) | dbSNP |
| 3 | g.52402655G>A | CA353096329 | BAP1 | c.2003C>T (p.Thr668Ile) c.1949C>T (p.Thr650Ile) n.676C>T c.202C>T c.575C>T (p.Thr192Ile) c.2072C>T (p.Thr691Ile) c.2027C>T (p.Thr676Ile) c.2018C>T (p.Thr673Ile) c.1958C>T (p.Thr653Ile) | dbSNP |
| 3 | g.52402655G>C | CA353096330 | BAP1 | c.2003C>G (p.Thr668Ser) c.1949C>G (p.Thr650Ser) n.676C>G c.202C>G c.575C>G (p.Thr192Ser) c.2072C>G (p.Thr691Ser) c.2027C>G (p.Thr676Ser) c.2018C>G (p.Thr673Ser) c.1958C>G (p.Thr653Ser) | ClinVar dbSNP |
| 3 | g.52402655G= | CA1364834881 | BAP1 | c.2003C= (p.Thr668=) c.1949C= (p.Thr650=) n.676C= c.202C= c.575C= (p.Thr192=) c.2072C= (p.Thr691=) c.2027C= (p.Thr676=) c.2018C= (p.Thr673=) c.1958C= (p.Thr653=) | |
| 3 | g.52402655G>T | CA353096331 | BAP1 | c.2003C>A (p.Thr668Asn) c.1949C>A (p.Thr650Asn) n.676C>A c.202C>A c.575C>A (p.Thr192Asn) c.2072C>A (p.Thr691Asn) c.2027C>A (p.Thr676Asn) c.2018C>A (p.Thr673Asn) c.1958C>A (p.Thr653Asn) | |
| 3 | g.52402656T>A | CA353096332 | BAP1 | c.2002A>T (p.Thr668Ser) c.1948A>T (p.Thr650Ser) n.675A>T c.201A>T c.574A>T (p.Thr192Ser) c.2071A>T (p.Thr691Ser) c.2026A>T (p.Thr676Ser) c.2017A>T (p.Thr673Ser) c.1957A>T (p.Thr653Ser) | dbSNP |
| 3 | g.52402656T>C | CA353096334 | BAP1 | c.2002A>G (p.Thr668Ala) c.1948A>G (p.Thr650Ala) n.675A>G c.201A>G c.574A>G (p.Thr192Ala) c.2071A>G (p.Thr691Ala) c.2026A>G (p.Thr676Ala) c.2017A>G (p.Thr673Ala) c.1957A>G (p.Thr653Ala) | dbSNP |
| 3 | g.52402656T>G | CA353096335 | BAP1 | c.2002A>C (p.Thr668Pro) c.1948A>C (p.Thr650Pro) n.675A>C c.201A>C c.574A>C (p.Thr192Pro) c.2071A>C (p.Thr691Pro) c.2026A>C (p.Thr676Pro) c.2017A>C (p.Thr673Pro) c.1957A>C (p.Thr653Pro) | dbSNP |
| 3 | g.52402657C>A | CA353096336 | BAP1 | c.2001G>T (p.Arg667Ser) c.1947G>T (p.Arg649Ser) n.674G>T c.200G>T c.573G>T (p.Arg191Ser) c.2070G>T (p.Arg690Ser) c.2025G>T (p.Arg675Ser) c.2016G>T (p.Arg672Ser) c.1956G>T (p.Arg652Ser) | ClinVar dbSNP |
| 3 | g.52402657C>G | CA353096337 | BAP1 | c.2001G>C (p.Arg667Ser) c.1947G>C (p.Arg649Ser) n.674G>C c.200G>C c.573G>C (p.Arg191Ser) c.2070G>C (p.Arg690Ser) c.2025G>C (p.Arg675Ser) c.2016G>C (p.Arg672Ser) c.1956G>C (p.Arg652Ser) | dbSNP |
| 3 | g.52402657C>T | CA433885717 | BAP1 | c.2001G>A (p.Arg667=) c.1947G>A (p.Arg649=) n.674G>A c.200G>A c.573G>A (p.Arg191=) c.2070G>A (p.Arg690=) c.2025G>A (p.Arg675=) c.2016G>A (p.Arg672=) c.1956G>A (p.Arg652=) | dbSNP |
| 3 | g.52402658del | CA2586972728 | BAP1 | c.2001del (p.Thr668ProfsTer24) c.1947del (p.Thr650ProfsTer24) n.674del c.200del c.573del (p.Thr192ProfsTer24) c.2070del (p.Thr691ProfsTer24) c.2025del (p.Thr676ProfsTer24) c.2016del (p.Thr673ProfsTer24) c.1956del (p.Thr653ProfsTer24) | |
| 3 | g.52402657_52402660delinsCCTT | CA1364834884 | BAP1 | c.1998_2001delinsAAGG (p.Arg666=) c.1944_1947delinsAAGG (p.Arg648=) n.671_674delinsAAGG c.197_200delinsAAGG c.570_573delinsAAGG (p.Arg190=) c.2067_2070delinsAAGG (p.Arg689=) c.2022_2025delinsAAGG (p.Arg674=) c.2013_2016delinsAAGG (p.Arg671=) c.1953_1956delinsAAGG (p.Arg651=) | |
| 3 | g.52402658C>A | CA353096338 | BAP1 | c.2000G>T (p.Arg667Met) c.1946G>T (p.Arg649Met) n.673G>T c.199G>T c.572G>T (p.Arg191Met) c.2069G>T (p.Arg690Met) c.2024G>T (p.Arg675Met) c.2015G>T (p.Arg672Met) c.1955G>T (p.Arg652Met) | dbSNP |
| 3 | g.52402658C>G | CA353096339 | BAP1 | c.2000G>C (p.Arg667Thr) c.1946G>C (p.Arg649Thr) n.673G>C c.199G>C c.572G>C (p.Arg191Thr) c.2069G>C (p.Arg690Thr) c.2024G>C (p.Arg675Thr) c.2015G>C (p.Arg672Thr) c.1955G>C (p.Arg652Thr) | dbSNP |
| 3 | g.52402658C>T | CA353096341 | BAP1 | c.2000G>A (p.Arg667Lys) c.1946G>A (p.Arg649Lys) n.673G>A c.199G>A c.572G>A (p.Arg191Lys) c.2069G>A (p.Arg690Lys) c.2024G>A (p.Arg675Lys) c.2015G>A (p.Arg672Lys) c.1955G>A (p.Arg652Lys) | dbSNP COSMIC |
| 3 | g.52402660_52402662del | CA916081433 | BAP1 | c.1998_2000del (p.Arg667del) c.1944_1946del (p.Arg649del) n.671_673del c.197_199del c.570_572del (p.Arg191del) c.2067_2069del (p.Arg690del) c.2022_2024del (p.Arg675del) c.2013_2015del (p.Arg672del) c.1953_1955del (p.Arg652del) | ClinVar dbSNP |
| 3 | g.52402658_52402677delinsCTTCTCTGGTCATCAATCTG | CA1364834888 | BAP1 | c.1984-3_2000delinsCAGATTGATGACCAGAGAAG c.1930-3_1946delinsCAGATTGATGACCAGAGAAG n.657-3_673delinsCAGATTGATGACCAGAGAAG c.183-3_199delinsCAGATTGATGACCAGAGAAG c.556-3_572delinsCAGATTGATGACCAGAGAAG c.2053-3_2069delinsCAGATTGATGACCAGAGAAG c.2008-3_2024delinsCAGATTGATGACCAGAGAAG c.1999-3_2015delinsCAGATTGATGACCAGAGAAG c.1939-3_1955delinsCAGATTGATGACCAGAGAAG | |
| 3 | g.52402659T>A | CA353096343 | BAP1 | c.1999A>T (p.Arg667Trp) c.1945A>T (p.Arg649Trp) n.672A>T c.198A>T c.571A>T (p.Arg191Trp) c.2068A>T (p.Arg690Trp) c.2023A>T (p.Arg675Trp) c.2014A>T (p.Arg672Trp) c.1954A>T (p.Arg652Trp) | |
| 3 | g.52402659T>C | CA353096345 | BAP1 | c.1999A>G (p.Arg667Gly) c.1945A>G (p.Arg649Gly) n.672A>G c.198A>G c.571A>G (p.Arg191Gly) c.2068A>G (p.Arg690Gly) c.2023A>G (p.Arg675Gly) c.2014A>G (p.Arg672Gly) c.1954A>G (p.Arg652Gly) | |
| 3 | g.52402659T>G | CA433885718 | BAP1 | c.1999A>C (p.Arg667=) c.1945A>C (p.Arg649=) n.672A>C c.198A>C c.571A>C (p.Arg191=) c.2068A>C (p.Arg690=) c.2023A>C (p.Arg675=) c.2014A>C (p.Arg672=) c.1954A>C (p.Arg652=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.52402659T= | CA1364834892 | BAP1 | c.1999A= (p.Arg667=) c.1945A= (p.Arg649=) n.672A= c.198A= c.571A= (p.Arg191=) c.2068A= (p.Arg690=) c.2023A= (p.Arg675=) c.2014A= (p.Arg672=) c.1954A= (p.Arg652=) | |
| 3 | g.52402660_52402678del | CA915942468 | BAP1 | c.1984-3_1999del c.1930-3_1945del n.657-3_672del c.183-3_198del c.556-3_571del c.2053-3_2068del c.2008-3_2023del c.1999-3_2014del c.1939-3_1954del | ClinVar dbSNP |
| 3 | g.52402660T>A | CA353096347 | BAP1 | c.1998A>T (p.Arg666Ser) c.1944A>T (p.Arg648Ser) n.671A>T c.197A>T c.570A>T (p.Arg190Ser) c.2067A>T (p.Arg689Ser) c.2022A>T (p.Arg674Ser) c.2013A>T (p.Arg671Ser) c.1953A>T (p.Arg651Ser) | |
| 3 | g.52402660T>C | CA433885719 | BAP1 | c.1998A>G (p.Arg666=) c.1944A>G (p.Arg648=) n.671A>G c.197A>G c.570A>G (p.Arg190=) c.2067A>G (p.Arg689=) c.2022A>G (p.Arg674=) c.2013A>G (p.Arg671=) c.1953A>G (p.Arg651=) | |
| 3 | g.52402660T>G | CA353096346 | BAP1 | c.1998A>C (p.Arg666Ser) c.1944A>C (p.Arg648Ser) n.671A>C c.197A>C c.570A>C (p.Arg190Ser) c.2067A>C (p.Arg689Ser) c.2022A>C (p.Arg674Ser) c.2013A>C (p.Arg671Ser) c.1953A>C (p.Arg651Ser) | |
| 3 | g.52402661del | CA645529870 | BAP1 | c.1997del (p.Arg666LysfsTer26) c.1943del (p.Arg648LysfsTer26) n.670del c.196del c.569del (p.Arg190LysfsTer26) c.2066del (p.Arg689LysfsTer26) c.2021del (p.Arg674LysfsTer26) c.2012del (p.Arg671LysfsTer26) c.1952del (p.Arg651LysfsTer26) | COSMIC |
| 3 | g.52402661C>A | CA353096350 | BAP1 | c.1997G>T (p.Arg666Ile) c.1943G>T (p.Arg648Ile) n.670G>T c.196G>T c.569G>T (p.Arg190Ile) c.2066G>T (p.Arg689Ile) c.2021G>T (p.Arg674Ile) c.2012G>T (p.Arg671Ile) c.1952G>T (p.Arg651Ile) | |
| 3 | g.52402661C>G | CA353096352 | BAP1 | c.1997G>C (p.Arg666Thr) c.1943G>C (p.Arg648Thr) n.670G>C c.196G>C c.569G>C (p.Arg190Thr) c.2066G>C (p.Arg689Thr) c.2021G>C (p.Arg674Thr) c.2012G>C (p.Arg671Thr) c.1952G>C (p.Arg651Thr) | |
| 3 | g.52402661C>T | CA353096353 | BAP1 | c.1997G>A (p.Arg666Lys) c.1943G>A (p.Arg648Lys) n.670G>A c.196G>A c.569G>A (p.Arg190Lys) c.2066G>A (p.Arg689Lys) c.2021G>A (p.Arg674Lys) c.2012G>A (p.Arg671Lys) c.1952G>A (p.Arg651Lys) | |
| 3 | g.52402662T>A | CA353096354 | BAP1 | c.1996A>T (p.Arg666Ter) c.1942A>T (p.Arg648Ter) n.669A>T c.195A>T c.568A>T (p.Arg190Ter) c.2065A>T (p.Arg689Ter) c.2020A>T (p.Arg674Ter) c.2011A>T (p.Arg671Ter) c.1951A>T (p.Arg651Ter) | dbSNP |
| 3 | g.52402662T>C | CA353096355 | BAP1 | c.1996A>G (p.Arg666Gly) c.1942A>G (p.Arg648Gly) n.669A>G c.195A>G c.568A>G (p.Arg190Gly) c.2065A>G (p.Arg689Gly) c.2020A>G (p.Arg674Gly) c.2011A>G (p.Arg671Gly) c.1951A>G (p.Arg651Gly) | |
| 3 | g.52402662T>G | CA433885720 | BAP1 | c.1996A>C (p.Arg666=) c.1942A>C (p.Arg648=) n.669A>C c.195A>C c.568A>C (p.Arg190=) c.2065A>C (p.Arg689=) c.2020A>C (p.Arg674=) c.2011A>C (p.Arg671=) c.1951A>C (p.Arg651=) | |
| 3 | g.52402663C>A | CA353096356 | BAP1 | c.1995G>T (p.Gln665His) c.1941G>T (p.Gln647His) n.668G>T c.194G>T c.567G>T (p.Gln189His) c.2064G>T (p.Gln688His) c.2019G>T (p.Gln673His) c.2010G>T (p.Gln670His) c.1950G>T (p.Gln650His) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.52402663C= | CA1364834896 | BAP1 | c.1995G= (p.Gln665=) c.1941G= (p.Gln647=) n.668G= c.194G= c.567G= (p.Gln189=) c.2064G= (p.Gln688=) c.2019G= (p.Gln673=) c.2010G= (p.Gln670=) c.1950G= (p.Gln650=) | |
| 3 | g.52402663C>G | CA353096357 | BAP1 | c.1995G>C (p.Gln665His) c.1941G>C (p.Gln647His) n.668G>C c.194G>C c.567G>C (p.Gln189His) c.2064G>C (p.Gln688His) c.2019G>C (p.Gln673His) c.2010G>C (p.Gln670His) c.1950G>C (p.Gln650His) | ClinVar dbSNP gnomAD v4 |
| 3 | g.52402663C>T | CA433885721 | BAP1 | c.1995G>A (p.Gln665=) c.1941G>A (p.Gln647=) n.668G>A c.194G>A c.567G>A (p.Gln189=) c.2064G>A (p.Gln688=) c.2019G>A (p.Gln673=) c.2010G>A (p.Gln670=) c.1950G>A (p.Gln650=) | dbSNP |
| 3 | g.52402664T>A | CA353096359 | BAP1 | c.1994A>T (p.Gln665Leu) c.1940A>T (p.Gln647Leu) n.667A>T c.193A>T c.566A>T (p.Gln189Leu) c.2063A>T (p.Gln688Leu) c.2018A>T (p.Gln673Leu) c.2009A>T (p.Gln670Leu) c.1949A>T (p.Gln650Leu) | |
| 3 | g.52402664T>C | CA2436623 | BAP1 | c.1994A>G (p.Gln665Arg) c.1940A>G (p.Gln647Arg) n.667A>G c.193A>G c.566A>G (p.Gln189Arg) c.2063A>G (p.Gln688Arg) c.2018A>G (p.Gln673Arg) c.2009A>G (p.Gln670Arg) c.1949A>G (p.Gln650Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.52402664T>G | CA353096362 | BAP1 | c.1994A>C (p.Gln665Pro) c.1940A>C (p.Gln647Pro) n.667A>C c.193A>C c.566A>C (p.Gln189Pro) c.2063A>C (p.Gln688Pro) c.2018A>C (p.Gln673Pro) c.2009A>C (p.Gln670Pro) c.1949A>C (p.Gln650Pro) | |
| 3 | g.52402664T= | CA1364834899 | BAP1 | c.1994A= (p.Gln665=) c.1940A= (p.Gln647=) n.667A= c.193A= c.566A= (p.Gln189=) c.2063A= (p.Gln688=) c.2018A= (p.Gln673=) c.2009A= (p.Gln670=) c.1949A= (p.Gln650=) | |
| 3 | g.52402665G>A | CA353096363 | BAP1 | c.1993C>T (p.Gln665Ter) c.1939C>T (p.Gln647Ter) n.666C>T c.192C>T c.565C>T (p.Gln189Ter) c.2062C>T (p.Gln688Ter) c.2017C>T (p.Gln673Ter) c.2008C>T (p.Gln670Ter) c.1948C>T (p.Gln650Ter) | ClinVar dbSNP COSMIC |
| 3 | g.52402665G>C | CA353096364 | BAP1 | c.1993C>G (p.Gln665Glu) c.1939C>G (p.Gln647Glu) n.666C>G c.192C>G c.565C>G (p.Gln189Glu) c.2062C>G (p.Gln688Glu) c.2017C>G (p.Gln673Glu) c.2008C>G (p.Gln670Glu) c.1948C>G (p.Gln650Glu) | |
| 3 | g.52402665G= | CA1364834902 | BAP1 | c.1993C= (p.Gln665=) c.1939C= (p.Gln647=) n.666C= c.192C= c.565C= (p.Gln189=) c.2062C= (p.Gln688=) c.2017C= (p.Gln673=) c.2008C= (p.Gln670=) c.1948C= (p.Gln650=) | |
| 3 | g.52402665G>T | CA353096365 | BAP1 | c.1993C>A (p.Gln665Lys) c.1939C>A (p.Gln647Lys) n.666C>A c.192C>A c.565C>A (p.Gln189Lys) c.2062C>A (p.Gln688Lys) c.2017C>A (p.Gln673Lys) c.2008C>A (p.Gln670Lys) c.1948C>A (p.Gln650Lys) | |
| 3 | g.52402666G>A | CA433885722 | BAP1 | c.1992C>T (p.Asp664=) c.1938C>T (p.Asp646=) n.665C>T c.191C>T c.564C>T (p.Asp188=) c.2061C>T (p.Asp687=) c.2016C>T (p.Asp672=) c.2007C>T (p.Asp669=) c.1947C>T (p.Asp649=) | ClinVar dbSNP |
| 3 | g.52402666G>C | CA353096367 | BAP1 | c.1992C>G (p.Asp664Glu) c.1938C>G (p.Asp646Glu) n.665C>G c.191C>G c.564C>G (p.Asp188Glu) c.2061C>G (p.Asp687Glu) c.2016C>G (p.Asp672Glu) c.2007C>G (p.Asp669Glu) c.1947C>G (p.Asp649Glu) | dbSNP |
| 3 | g.52402666G= | CA1364834907 | BAP1 | c.1992C= (p.Asp664=) c.1938C= (p.Asp646=) n.665C= c.191C= c.564C= (p.Asp188=) c.2061C= (p.Asp687=) c.2016C= (p.Asp672=) c.2007C= (p.Asp669=) c.1947C= (p.Asp649=) | |
| 3 | g.52402666G>T | CA353096368 | BAP1 | c.1992C>A (p.Asp664Glu) c.1938C>A (p.Asp646Glu) n.665C>A c.191C>A c.564C>A (p.Asp188Glu) c.2061C>A (p.Asp687Glu) c.2016C>A (p.Asp672Glu) c.2007C>A (p.Asp669Glu) c.1947C>A (p.Asp649Glu) | dbSNP |
| 3 | g.52402667del | CA2499216934 | BAP1 | c.1991del (p.Asp664AlafsTer28) c.1937del (p.Asp646AlafsTer28) n.664del c.190del c.563del (p.Asp188AlafsTer28) c.2060del (p.Asp687AlafsTer28) c.2015del (p.Asp672AlafsTer28) c.2006del (p.Asp669AlafsTer28) c.1946del (p.Asp649AlafsTer28) | ClinVar dbSNP |
| 3 | g.52402667T>A | CA353096370 | BAP1 | c.1991A>T (p.Asp664Val) c.1937A>T (p.Asp646Val) n.664A>T c.190A>T c.563A>T (p.Asp188Val) c.2060A>T (p.Asp687Val) c.2015A>T (p.Asp672Val) c.2006A>T (p.Asp669Val) c.1946A>T (p.Asp649Val) | dbSNP |
| 3 | g.52402667T>C | CA353096372 | BAP1 | c.1991A>G (p.Asp664Gly) c.1937A>G (p.Asp646Gly) n.664A>G c.190A>G c.563A>G (p.Asp188Gly) c.2060A>G (p.Asp687Gly) c.2015A>G (p.Asp672Gly) c.2006A>G (p.Asp669Gly) c.1946A>G (p.Asp649Gly) | ClinVar dbSNP |
| 3 | g.52402667T>G | CA353096371 | BAP1 | c.1991A>C (p.Asp664Ala) c.1937A>C (p.Asp646Ala) n.664A>C c.190A>C c.563A>C (p.Asp188Ala) c.2060A>C (p.Asp687Ala) c.2015A>C (p.Asp672Ala) c.2006A>C (p.Asp669Ala) c.1946A>C (p.Asp649Ala) | |
| 3 | g.52402667T= | CA1364834921 | BAP1 | c.1991A= (p.Asp664=) c.1937A= (p.Asp646=) n.664A= c.190A= c.563A= (p.Asp188=) c.2060A= (p.Asp687=) c.2015A= (p.Asp672=) c.2006A= (p.Asp669=) c.1946A= (p.Asp649=) | |
| 3 | g.52402670_52402672del | CA2573130370 | BAP1 | c.1989_1991del (p.Asp664del) c.1935_1937del (p.Asp646del) n.662_664del c.188_190del c.561_563del (p.Asp188del) c.2058_2060del (p.Asp687del) c.2013_2015del (p.Asp672del) c.2004_2006del (p.Asp669del) c.1944_1946del (p.Asp649del) | |
| 3 | g.52402668C>A | CA353096374 | BAP1 | c.1990G>T (p.Asp664Tyr) c.1936G>T (p.Asp646Tyr) n.663G>T c.189G>T c.562G>T (p.Asp188Tyr) c.2059G>T (p.Asp687Tyr) c.2014G>T (p.Asp672Tyr) c.2005G>T (p.Asp669Tyr) c.1945G>T (p.Asp649Tyr) | gnomAD v4 |
| 3 | g.52402668C= | CA1364834925 | BAP1 | c.1990G= (p.Asp664=) c.1936G= (p.Asp646=) n.663G= c.189G= c.562G= (p.Asp188=) c.2059G= (p.Asp687=) c.2014G= (p.Asp672=) c.2005G= (p.Asp669=) c.1945G= (p.Asp649=) | |
| 3 | g.52402668C>G | CA353096376 | BAP1 | c.1990G>C (p.Asp664His) c.1936G>C (p.Asp646His) n.663G>C c.189G>C c.562G>C (p.Asp188His) c.2059G>C (p.Asp687His) c.2014G>C (p.Asp672His) c.2005G>C (p.Asp669His) c.1945G>C (p.Asp649His) | dbSNP |
| 3 | g.52402668C>T | CA353096377 | BAP1 | c.1990G>A (p.Asp664Asn) c.1936G>A (p.Asp646Asn) n.663G>A c.189G>A c.562G>A (p.Asp188Asn) c.2059G>A (p.Asp687Asn) c.2014G>A (p.Asp672Asn) c.2005G>A (p.Asp669Asn) c.1945G>A (p.Asp649Asn) | ClinVar dbSNP |
| 3 | g.52402669A>C | CA353096379 | BAP1 | c.1989T>G (p.Asp663Glu) c.1935T>G (p.Asp645Glu) n.662T>G c.188T>G c.561T>G (p.Asp187Glu) c.2058T>G (p.Asp686Glu) c.2013T>G (p.Asp671Glu) c.2004T>G (p.Asp668Glu) c.1944T>G (p.Asp648Glu) | dbSNP |
| 3 | g.52402669A>G | CA433885723 | BAP1 | c.1989T>C (p.Asp663=) c.1935T>C (p.Asp645=) n.662T>C c.188T>C c.561T>C (p.Asp187=) c.2058T>C (p.Asp686=) c.2013T>C (p.Asp671=) c.2004T>C (p.Asp668=) c.1944T>C (p.Asp648=) | |
| 3 | g.52402669A>T | CA353096380 | BAP1 | c.1989T>A (p.Asp663Glu) c.1935T>A (p.Asp645Glu) n.662T>A c.188T>A c.561T>A (p.Asp187Glu) c.2058T>A (p.Asp686Glu) c.2013T>A (p.Asp671Glu) c.2004T>A (p.Asp668Glu) c.1944T>A (p.Asp648Glu) | dbSNP |
| 3 | g.52402672_52402675del | CA645529871 | BAP1 | c.1986_1989del c.1932_1935del n.659_662del c.185_188del c.558_561del c.2055_2058del c.2010_2013del c.2001_2004del c.1941_1944del | COSMIC |
| 3 | g.52402670T>A | CA353096381 | BAP1 | c.1988A>T (p.Asp663Val) c.1934A>T (p.Asp645Val) n.661A>T c.187A>T c.560A>T (p.Asp187Val) c.2057A>T (p.Asp686Val) c.2012A>T (p.Asp671Val) c.2003A>T (p.Asp668Val) c.1943A>T (p.Asp648Val) | dbSNP |
| 3 | g.52402670T>C | CA353096383 | BAP1 | c.1988A>G (p.Asp663Gly) c.1934A>G (p.Asp645Gly) n.661A>G c.187A>G c.560A>G (p.Asp187Gly) c.2057A>G (p.Asp686Gly) c.2012A>G (p.Asp671Gly) c.2003A>G (p.Asp668Gly) c.1943A>G (p.Asp648Gly) | dbSNP |
| 3 | g.52402670T>G | CA353096384 | BAP1 | c.1988A>C (p.Asp663Ala) c.1934A>C (p.Asp645Ala) n.661A>C c.187A>C c.560A>C (p.Asp187Ala) c.2057A>C (p.Asp686Ala) c.2012A>C (p.Asp671Ala) c.2003A>C (p.Asp668Ala) c.1943A>C (p.Asp648Ala) | |
| 3 | g.52402671C>A | CA353096386 | BAP1 | c.1987G>T (p.Asp663Tyr) c.1933G>T (p.Asp645Tyr) n.660G>T c.186G>T c.559G>T (p.Asp187Tyr) c.2056G>T (p.Asp686Tyr) c.2011G>T (p.Asp671Tyr) c.2002G>T (p.Asp668Tyr) c.1942G>T (p.Asp648Tyr) | dbSNP |
| 3 | g.52402671C>G | CA353096388 | BAP1 | c.1987G>C (p.Asp663His) c.1933G>C (p.Asp645His) n.660G>C c.186G>C c.559G>C (p.Asp187His) c.2056G>C (p.Asp686His) c.2011G>C (p.Asp671His) c.2002G>C (p.Asp668His) c.1942G>C (p.Asp648His) | dbSNP COSMIC |
| 3 | g.52402671C>T | CA353096390 | BAP1 | c.1987G>A (p.Asp663Asn) c.1933G>A (p.Asp645Asn) n.660G>A c.186G>A c.559G>A (p.Asp187Asn) c.2056G>A (p.Asp686Asn) c.2011G>A (p.Asp671Asn) c.2002G>A (p.Asp668Asn) c.1942G>A (p.Asp648Asn) | dbSNP |
| 3 | g.52402671_52402672delinsCA | CA1364834931 | BAP1 | c.1986_1987delinsTG (p.Ile662=) c.1932_1933delinsTG (p.Ile644=) n.659_660delinsTG c.185_186delinsTG c.558_559delinsTG (p.Ile186=) c.2055_2056delinsTG (p.Ile685=) c.2010_2011delinsTG (p.Ile670=) c.2001_2002delinsTG (p.Ile667=) c.1941_1942delinsTG (p.Ile647=) | |
| 3 | g.52402672A>C | CA353096392 | BAP1 | c.1986T>G (p.Ile662Met) c.1932T>G (p.Ile644Met) n.659T>G c.185T>G c.558T>G (p.Ile186Met) c.2055T>G (p.Ile685Met) c.2010T>G (p.Ile670Met) c.2001T>G (p.Ile667Met) c.1941T>G (p.Ile647Met) | ClinVar |
| 3 | g.52402672A>G | CA433885724 | BAP1 | c.1986T>C (p.Ile662=) c.1932T>C (p.Ile644=) n.659T>C c.185T>C c.558T>C (p.Ile186=) c.2055T>C (p.Ile685=) c.2010T>C (p.Ile670=) c.2001T>C (p.Ile667=) c.1941T>C (p.Ile647=) | |
| 3 | g.52402672A>T | CA433885725 | BAP1 | c.1986T>A (p.Ile662=) c.1932T>A (p.Ile644=) n.659T>A c.185T>A c.558T>A (p.Ile186=) c.2055T>A (p.Ile685=) c.2010T>A (p.Ile670=) c.2001T>A (p.Ile667=) c.1941T>A (p.Ile647=) | |
| 3 | g.52402673del | CA1139658108 | BAP1 | c.1986del (p.Ile662MetfsTer30) c.1932del (p.Ile644MetfsTer30) n.659del c.185del c.558del (p.Ile186MetfsTer30) c.2055del (p.Ile685MetfsTer30) c.2010del (p.Ile670MetfsTer30) c.2001del (p.Ile667MetfsTer30) c.1941del (p.Ile647MetfsTer30) | ClinVar dbSNP |
| 3 | g.52402673A= | CA1364834935 | BAP1 | c.1985T= (p.Ile662=) c.1931T= (p.Ile644=) n.658T= c.184T= c.557T= (p.Ile186=) c.2054T= (p.Ile685=) c.2009T= (p.Ile670=) c.2000T= (p.Ile667=) c.1940T= (p.Ile647=) | |
| 3 | g.52402673A>C | CA353096396 | BAP1 | c.1985T>G (p.Ile662Ser) c.1931T>G (p.Ile644Ser) n.658T>G c.184T>G c.557T>G (p.Ile186Ser) c.2054T>G (p.Ile685Ser) c.2009T>G (p.Ile670Ser) c.2000T>G (p.Ile667Ser) c.1940T>G (p.Ile647Ser) | |
| 3 | g.52402673A>G | CA2436624 | BAP1 | c.1985T>C (p.Ile662Thr) c.1931T>C (p.Ile644Thr) n.658T>C c.184T>C c.557T>C (p.Ile186Thr) c.2054T>C (p.Ile685Thr) c.2009T>C (p.Ile670Thr) c.2000T>C (p.Ile667Thr) c.1940T>C (p.Ile647Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.52402673A>T | CA353096395 | BAP1 | c.1985T>A (p.Ile662Asn) c.1931T>A (p.Ile644Asn) n.658T>A c.184T>A c.557T>A (p.Ile186Asn) c.2054T>A (p.Ile685Asn) c.2009T>A (p.Ile670Asn) c.2000T>A (p.Ile667Asn) c.1940T>A (p.Ile647Asn) | ClinVar dbSNP COSMIC |
| 3 | g.52402674T>A | CA353096398 | BAP1 | c.1984A>T (p.Ile662Phe) c.1930A>T (p.Ile644Phe) n.657A>T c.183A>T c.556A>T (p.Ile186Phe) c.2053A>T (p.Ile685Phe) c.2008A>T (p.Ile670Phe) c.1999A>T (p.Ile667Phe) c.1939A>T (p.Ile647Phe) | dbSNP |
| 3 | g.52402674T>C | CA353096400 | BAP1 | c.1984A>G (p.Ile662Val) c.1930A>G (p.Ile644Val) n.657A>G c.183A>G c.556A>G (p.Ile186Val) c.2053A>G (p.Ile685Val) c.2008A>G (p.Ile670Val) c.1999A>G (p.Ile667Val) c.1939A>G (p.Ile647Val) | dbSNP |
| 3 | g.52402674T>G | CA353096401 | BAP1 | c.1984A>C (p.Ile662Leu) c.1930A>C (p.Ile644Leu) n.657A>C c.183A>C c.556A>C (p.Ile186Leu) c.2053A>C (p.Ile685Leu) c.2008A>C (p.Ile670Leu) c.1999A>C (p.Ile667Leu) c.1939A>C (p.Ile647Leu) | |
| 3 | g.52402675_52402678del | CA645529872 | BAP1 | c.1984-3_1984del c.1930-3_1930del n.657-3_657del c.183-3_183del c.556-3_556del c.2053-3_2053del c.2008-3_2008del c.1999-3_1999del c.1939-3_1939del | COSMIC |
| 3 | g.52402675C>A | CA353096402 | BAP1 | c.1984-1G>T (n.1984-1G>T) c.1930-1G>T (n.1930-1G>T) n.657-1G>T c.183-1G>T c.556-1G>T (n.556-1G>T) c.2053-1G>T (n.2053-1G>T) c.2008-1G>T (n.2008-1G>T) c.1999-1G>T (n.1999-1G>T) c.1939-1G>T (n.1939-1G>T) | COSMIC |
| 3 | g.52402675C= | CA1364834940 | BAP1 | c.1984-1G= (n.1984-1G=) c.1930-1G= (n.1930-1G=) n.657-1G= c.183-1G= c.556-1G= (n.556-1G=) c.2053-1G= (n.2053-1G=) c.2008-1G= (n.2008-1G=) c.1999-1G= (n.1999-1G=) c.1939-1G= (n.1939-1G=) | |
| 3 | g.52402675C>G | CA353096403 | BAP1 | c.1984-1G>C (n.1984-1G>C) c.1930-1G>C (n.1930-1G>C) n.657-1G>C c.183-1G>C c.556-1G>C (n.556-1G>C) c.2053-1G>C (n.2053-1G>C) c.2008-1G>C (n.2008-1G>C) c.1999-1G>C (n.1999-1G>C) c.1939-1G>C (n.1939-1G>C) | |
| 3 | g.52402675C>T | CA353096404 | BAP1 | c.1984-1G>A (n.1984-1G>A) c.1930-1G>A (n.1930-1G>A) n.657-1G>A c.183-1G>A c.556-1G>A (n.556-1G>A) c.2053-1G>A (n.2053-1G>A) c.2008-1G>A (n.2008-1G>A) c.1999-1G>A (n.1999-1G>A) c.1939-1G>A (n.1939-1G>A) | ClinVar dbSNP |
| 3 | g.52402675_52402677delinsCTG | CA1364834938 | BAP1 | c.1984-3_1984-1delinsCAG (n.1984-3_1984-1delinsCAG) c.1930-3_1930-1delinsCAG (n.1930-3_1930-1delinsCAG) n.657-3_657-1delinsCAG c.183-3_183-1delinsCAG c.556-3_556-1delinsCAG (n.556-3_556-1delinsCAG) c.2053-3_2053-1delinsCAG (n.2053-3_2053-1delinsCAG) c.2008-3_2008-1delinsCAG (n.2008-3_2008-1delinsCAG) c.1999-3_1999-1delinsCAG (n.1999-3_1999-1delinsCAG) c.1939-3_1939-1delinsCAG (n.1939-3_1939-1delinsCAG) | |
| 3 | g.52402677_52402780del | CA1047968504 | BAP1 | c.1983+1_1984-1del c.1929+1_1930-1del n.656+1_657-1del c.182+1_183-1del c.555+1_556-1del c.2052+1_2053-1del c.2007+1_2008-1del c.1998+1_1999-1del c.1938+1_1939-1del | gnomAD v3 gnomAD v4 |
| 3 | g.52402676T>A | CA353096406 | BAP1 | c.1984-2A>T (n.1984-2A>T) c.1930-2A>T (n.1930-2A>T) n.657-2A>T c.183-2A>T c.556-2A>T (n.556-2A>T) c.2053-2A>T (n.2053-2A>T) c.2008-2A>T (n.2008-2A>T) c.1999-2A>T (n.1999-2A>T) c.1939-2A>T (n.1939-2A>T) | dbSNP |
| 3 | g.52402676T>C | CA353096409 | BAP1 | c.1984-2A>G (n.1984-2A>G) c.1930-2A>G (n.1930-2A>G) n.657-2A>G c.183-2A>G c.556-2A>G (n.556-2A>G) c.2053-2A>G (n.2053-2A>G) c.2008-2A>G (n.2008-2A>G) c.1999-2A>G (n.1999-2A>G) c.1939-2A>G (n.1939-2A>G) | ClinVar dbSNP |
| 3 | g.52402676T>G | CA353096411 | BAP1 | c.1984-2A>C (n.1984-2A>C) c.1930-2A>C (n.1930-2A>C) n.657-2A>C c.183-2A>C c.556-2A>C (n.556-2A>C) c.2053-2A>C (n.2053-2A>C) c.2008-2A>C (n.2008-2A>C) c.1999-2A>C (n.1999-2A>C) c.1939-2A>C (n.1939-2A>C) | |
| 3 | g.52402677_52402678del | CA543056495 | BAP1 | c.1984-3_1984-2del (n.1984-3_1984-2del) c.1930-3_1930-2del (n.1930-3_1930-2del) n.657-3_657-2del c.183-3_183-2del c.556-3_556-2del (n.556-3_556-2del) c.2053-3_2053-2del (n.2053-3_2053-2del) c.2008-3_2008-2del (n.2008-3_2008-2del) c.1999-3_1999-2del (n.1999-3_1999-2del) c.1939-3_1939-2del (n.1939-3_1939-2del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.52402676_52402687delinsTGTAGGAGAGAA | CA1364834942 | BAP1 | c.1984-13_1984-2delinsTTCTCTCCTACA (n.1984-13_1984-2delinsTTCTCTCCTACA) c.1930-13_1930-2delinsTTCTCTCCTACA (n.1930-13_1930-2delinsTTCTCTCCTACA) n.657-13_657-2delinsTTCTCTCCTACA c.183-13_183-2delinsTTCTCTCCTACA c.556-13_556-2delinsTTCTCTCCTACA (n.556-13_556-2delinsTTCTCTCCTACA) c.2053-13_2053-2delinsTTCTCTCCTACA (n.2053-13_2053-2delinsTTCTCTCCTACA) c.2008-13_2008-2delinsTTCTCTCCTACA (n.2008-13_2008-2delinsTTCTCTCCTACA) c.1999-13_1999-2delinsTTCTCTCCTACA (n.1999-13_1999-2delinsTTCTCTCCTACA) c.1939-13_1939-2delinsTTCTCTCCTACA (n.1939-13_1939-2delinsTTCTCTCCTACA) | |
| 3 | g.52402677G>A | CA2580070182 | BAP1 | c.1984-3C>T (n.1984-3C>T) c.1930-3C>T (n.1930-3C>T) n.657-3C>T c.183-3C>T c.556-3C>T (n.556-3C>T) c.2053-3C>T (n.2053-3C>T) c.2008-3C>T (n.2008-3C>T) c.1999-3C>T (n.1999-3C>T) c.1939-3C>T (n.1939-3C>T) | ClinVar dbSNP |
| 3 | g.52402677G>C | CA2702827356 | BAP1 | c.1984-3C>G (n.1984-3C>G) c.1930-3C>G (n.1930-3C>G) n.657-3C>G c.183-3C>G c.556-3C>G (n.556-3C>G) c.2053-3C>G (n.2053-3C>G) c.2008-3C>G (n.2008-3C>G) c.1999-3C>G (n.1999-3C>G) c.1939-3C>G (n.1939-3C>G) | dbSNP |
| 3 | g.52402678_52402688del | CA16617995 | BAP1 | c.1984-13_1984-3del (n.1984-13_1984-3del) c.1930-13_1930-3del (n.1930-13_1930-3del) n.657-13_657-3del c.183-13_183-3del c.556-13_556-3del (n.556-13_556-3del) c.2053-13_2053-3del (n.2053-13_2053-3del) c.2008-13_2008-3del (n.2008-13_2008-3del) c.1999-13_1999-3del (n.1999-13_1999-3del) c.1939-13_1939-3del (n.1939-13_1939-3del) | ClinVar dbSNP |
| 3 | g.52402678T>A | CA2702545081 | BAP1 | c.1984-4A>T (n.1984-4A>T) c.1930-4A>T (n.1930-4A>T) n.657-4A>T c.183-4A>T c.556-4A>T (n.556-4A>T) c.2053-4A>T (n.2053-4A>T) c.2008-4A>T (n.2008-4A>T) c.1999-4A>T (n.1999-4A>T) c.1939-4A>T (n.1939-4A>T) | dbSNP |
| 3 | g.52402678T>C | CA2436625 | BAP1 | c.1984-4A>G (n.1984-4A>G) c.1930-4A>G (n.1930-4A>G) n.657-4A>G c.183-4A>G c.556-4A>G (n.556-4A>G) c.2053-4A>G (n.2053-4A>G) c.2008-4A>G (n.2008-4A>G) c.1999-4A>G (n.1999-4A>G) c.1939-4A>G (n.1939-4A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.52402678T= | CA1364834947 | BAP1 | c.1984-4A= (n.1984-4A=) c.1930-4A= (n.1930-4A=) n.657-4A= c.183-4A= c.556-4A= (n.556-4A=) c.2053-4A= (n.2053-4A=) c.2008-4A= (n.2008-4A=) c.1999-4A= (n.1999-4A=) c.1939-4A= (n.1939-4A=) | |
| 3 | g.52402679A= | CA1364834949 | BAP1 | c.1984-5T= (n.1984-5T=) c.1930-5T= (n.1930-5T=) n.657-5T= c.183-5T= c.556-5T= (n.556-5T=) c.2053-5T= (n.2053-5T=) c.2008-5T= (n.2008-5T=) c.1999-5T= (n.1999-5T=) c.1939-5T= (n.1939-5T=) | |
| 3 | g.52402679A>G | CA2436626 | BAP1 | c.1984-5T>C (n.1984-5T>C) c.1930-5T>C (n.1930-5T>C) n.657-5T>C c.183-5T>C c.556-5T>C (n.556-5T>C) c.2053-5T>C (n.2053-5T>C) c.2008-5T>C (n.2008-5T>C) c.1999-5T>C (n.1999-5T>C) c.1939-5T>C (n.1939-5T>C) | ClinVar dbSNP ExAC gnomAD v2 |
| 3 | g.52402679A>T | CA2666007224 | BAP1 | c.1984-5T>A (n.1984-5T>A) c.1930-5T>A (n.1930-5T>A) n.657-5T>A c.183-5T>A c.556-5T>A (n.556-5T>A) c.2053-5T>A (n.2053-5T>A) c.2008-5T>A (n.2008-5T>A) c.1999-5T>A (n.1999-5T>A) c.1939-5T>A (n.1939-5T>A) | dbSNP gnomAD v4 |
| 3 | g.52402680G>A | CA2573137286 | BAP1 | c.1984-6C>T (n.1984-6C>T) c.1930-6C>T (n.1930-6C>T) n.657-6C>T c.183-6C>T c.556-6C>T (n.556-6C>T) c.2053-6C>T (n.2053-6C>T) c.2008-6C>T (n.2008-6C>T) c.1999-6C>T (n.1999-6C>T) c.1939-6C>T (n.1939-6C>T) | ClinVar dbSNP |
| 3 | g.52402680G>C | CA2666007225 | BAP1 | c.1984-6C>G (n.1984-6C>G) c.1930-6C>G (n.1930-6C>G) n.657-6C>G c.183-6C>G c.556-6C>G (n.556-6C>G) c.2053-6C>G (n.2053-6C>G) c.2008-6C>G (n.2008-6C>G) c.1999-6C>G (n.1999-6C>G) c.1939-6C>G (n.1939-6C>G) | dbSNP gnomAD v4 |
| 3 | g.52402680G>T | CA2702827359 | BAP1 | c.1984-6C>A (n.1984-6C>A) c.1930-6C>A (n.1930-6C>A) n.657-6C>A c.183-6C>A c.556-6C>A (n.556-6C>A) c.2053-6C>A (n.2053-6C>A) c.2008-6C>A (n.2008-6C>A) c.1999-6C>A (n.1999-6C>A) c.1939-6C>A (n.1939-6C>A) | dbSNP |
| 3 | g.52402681G>A | CA543056496 | BAP1 | c.1984-7C>T (n.1984-7C>T) c.1930-7C>T (n.1930-7C>T) n.657-7C>T c.183-7C>T c.556-7C>T (n.556-7C>T) c.2053-7C>T (n.2053-7C>T) c.2008-7C>T (n.2008-7C>T) c.1999-7C>T (n.1999-7C>T) c.1939-7C>T (n.1939-7C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.52402681G>C | CA2702578038 | BAP1 | c.1984-7C>G (n.1984-7C>G) c.1930-7C>G (n.1930-7C>G) n.657-7C>G c.183-7C>G c.556-7C>G (n.556-7C>G) c.2053-7C>G (n.2053-7C>G) c.2008-7C>G (n.2008-7C>G) c.1999-7C>G (n.1999-7C>G) c.1939-7C>G (n.1939-7C>G) | dbSNP |
| 3 | g.52402681G= | CA1364834952 | BAP1 | c.1984-7C= (n.1984-7C=) c.1930-7C= (n.1930-7C=) n.657-7C= c.183-7C= c.556-7C= (n.556-7C=) c.2053-7C= (n.2053-7C=) c.2008-7C= (n.2008-7C=) c.1999-7C= (n.1999-7C=) c.1939-7C= (n.1939-7C=) | |
| 3 | g.52402681_52402686delinsGAGAGA | CA1364834951 | BAP1 | c.1984-12_1984-7delinsTCTCTC (n.1984-12_1984-7delinsTCTCTC) c.1930-12_1930-7delinsTCTCTC (n.1930-12_1930-7delinsTCTCTC) n.657-12_657-7delinsTCTCTC c.183-12_183-7delinsTCTCTC c.556-12_556-7delinsTCTCTC (n.556-12_556-7delinsTCTCTC) c.2053-12_2053-7delinsTCTCTC (n.2053-12_2053-7delinsTCTCTC) c.2008-12_2008-7delinsTCTCTC (n.2008-12_2008-7delinsTCTCTC) c.1999-12_1999-7delinsTCTCTC (n.1999-12_1999-7delinsTCTCTC) c.1939-12_1939-7delinsTCTCTC (n.1939-12_1939-7delinsTCTCTC) | |
| 3 | g.52402682A>G | CA2580070183 | BAP1 | c.1984-8T>C (n.1984-8T>C) c.1930-8T>C (n.1930-8T>C) n.657-8T>C c.183-8T>C c.556-8T>C (n.556-8T>C) c.2053-8T>C (n.2053-8T>C) c.2008-8T>C (n.2008-8T>C) c.1999-8T>C (n.1999-8T>C) c.1939-8T>C (n.1939-8T>C) | ClinVar gnomAD v4 |
| 3 | g.52402682A>T | CA2573052218 | BAP1 | c.1984-8T>A (n.1984-8T>A) c.1930-8T>A (n.1930-8T>A) n.657-8T>A c.183-8T>A c.556-8T>A (n.556-8T>A) c.2053-8T>A (n.2053-8T>A) c.2008-8T>A (n.2008-8T>A) c.1999-8T>A (n.1999-8T>A) c.1939-8T>A (n.1939-8T>A) | ClinVar dbSNP |
| 3 | g.52402685_52402689del | CA2436627 | BAP1 | c.1984-12_1984-8del (n.1984-12_1984-8del) c.1930-12_1930-8del (n.1930-12_1930-8del) n.657-12_657-8del c.183-12_183-8del c.556-12_556-8del (n.556-12_556-8del) c.2053-12_2053-8del (n.2053-12_2053-8del) c.2008-12_2008-8del (n.2008-12_2008-8del) c.1999-12_1999-8del (n.1999-12_1999-8del) c.1939-12_1939-8del (n.1939-12_1939-8del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.52402683G>C | CA433885726 | BAP1 | c.1984-9C>G (n.1984-9C>G) c.1930-9C>G (n.1930-9C>G) n.657-9C>G c.183-9C>G c.556-9C>G (n.556-9C>G) c.2053-9C>G (n.2053-9C>G) c.2008-9C>G (n.2008-9C>G) c.1999-9C>G (n.1999-9C>G) c.1939-9C>G (n.1939-9C>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.52402683G= | CA1364834958 | BAP1 | c.1984-9C= (n.1984-9C=) c.1930-9C= (n.1930-9C=) n.657-9C= c.183-9C= c.556-9C= (n.556-9C=) c.2053-9C= (n.2053-9C=) c.2008-9C= (n.2008-9C=) c.1999-9C= (n.1999-9C=) c.1939-9C= (n.1939-9C=) | |
| 3 | g.52402683_52402686delinsGAGA | CA1364834957 | BAP1 | c.1984-12_1984-9delinsTCTC (n.1984-12_1984-9delinsTCTC) c.1930-12_1930-9delinsTCTC (n.1930-12_1930-9delinsTCTC) n.657-12_657-9delinsTCTC c.183-12_183-9delinsTCTC c.556-12_556-9delinsTCTC (n.556-12_556-9delinsTCTC) c.2053-12_2053-9delinsTCTC (n.2053-12_2053-9delinsTCTC) c.2008-12_2008-9delinsTCTC (n.2008-12_2008-9delinsTCTC) c.1999-12_1999-9delinsTCTC (n.1999-12_1999-9delinsTCTC) c.1939-12_1939-9delinsTCTC (n.1939-12_1939-9delinsTCTC) | |
| 3 | g.52402684A>G | CA2702827366 | BAP1 | c.1984-10T>C (n.1984-10T>C) c.1930-10T>C (n.1930-10T>C) n.657-10T>C c.183-10T>C c.556-10T>C (n.556-10T>C) c.2053-10T>C (n.2053-10T>C) c.2008-10T>C (n.2008-10T>C) c.1999-10T>C (n.1999-10T>C) c.1939-10T>C (n.1939-10T>C) | dbSNP |
| 3 | g.52402690_52402692del | CA2436628 | BAP1 | c.1984-12_1984-10del (n.1984-12_1984-10del) c.1930-12_1930-10del (n.1930-12_1930-10del) n.657-12_657-10del c.183-12_183-10del c.556-12_556-10del (n.556-12_556-10del) c.2053-12_2053-10del (n.2053-12_2053-10del) c.2008-12_2008-10del (n.2008-12_2008-10del) c.1999-12_1999-10del (n.1999-12_1999-10del) c.1939-12_1939-10del (n.1939-12_1939-10del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.52402685G>A | CA2666007249 | BAP1 | c.1984-11C>T (n.1984-11C>T) c.1930-11C>T (n.1930-11C>T) n.657-11C>T c.183-11C>T c.556-11C>T (n.556-11C>T) c.2053-11C>T (n.2053-11C>T) c.2008-11C>T (n.2008-11C>T) c.1999-11C>T (n.1999-11C>T) c.1939-11C>T (n.1939-11C>T) | ClinVar dbSNP gnomAD v4 |
| 3 | g.52402685G>C | CA1364834962 | BAP1 | c.1984-11C>G (n.1984-11C>G) c.1930-11C>G (n.1930-11C>G) n.657-11C>G c.183-11C>G c.556-11C>G (n.556-11C>G) c.2053-11C>G (n.2053-11C>G) c.2008-11C>G (n.2008-11C>G) c.1999-11C>G (n.1999-11C>G) c.1939-11C>G (n.1939-11C>G) | dbSNP |
| 3 | g.52402685G= | CA1364834961 | BAP1 | c.1984-11C= (n.1984-11C=) c.1930-11C= (n.1930-11C=) n.657-11C= c.183-11C= c.556-11C= (n.556-11C=) c.2053-11C= (n.2053-11C=) c.2008-11C= (n.2008-11C=) c.1999-11C= (n.1999-11C=) c.1939-11C= (n.1939-11C=) | |
| 3 | g.52402686A= | CA1364834964 | BAP1 | c.1984-12T= (n.1984-12T=) c.1930-12T= (n.1930-12T=) n.657-12T= c.183-12T= c.556-12T= (n.556-12T=) c.2053-12T= (n.2053-12T=) c.2008-12T= (n.2008-12T=) c.1999-12T= (n.1999-12T=) c.1939-12T= (n.1939-12T=) | |
| 3 | g.52402686_52402687del | CA2739279931 | BAP1 | c.1984-13_1984-12del (n.1984-13_1984-12del) c.1930-13_1930-12del (n.1930-13_1930-12del) n.657-13_657-12del c.183-13_183-12del c.556-13_556-12del (n.556-13_556-12del) c.2053-13_2053-12del (n.2053-13_2053-12del) c.2008-13_2008-12del (n.2008-13_2008-12del) c.1999-13_1999-12del (n.1999-13_1999-12del) c.1939-13_1939-12del (n.1939-13_1939-12del) | ClinVar |
| 3 | g.52402687A>G | CA2702827370 | BAP1 | c.1984-13T>C (n.1984-13T>C) c.1930-13T>C (n.1930-13T>C) n.657-13T>C c.183-13T>C c.556-13T>C (n.556-13T>C) c.2053-13T>C (n.2053-13T>C) c.2008-13T>C (n.2008-13T>C) c.1999-13T>C (n.1999-13T>C) c.1939-13T>C (n.1939-13T>C) | dbSNP |
| 3 | g.52402687A>T | CA2702827372 | BAP1 | c.1984-13T>A (n.1984-13T>A) c.1930-13T>A (n.1930-13T>A) n.657-13T>A c.183-13T>A c.556-13T>A (n.556-13T>A) c.2053-13T>A (n.2053-13T>A) c.2008-13T>A (n.2008-13T>A) c.1999-13T>A (n.1999-13T>A) c.1939-13T>A (n.1939-13T>A) | dbSNP |
| 3 | g.52402688_52402710dup | CA1139658109 | BAP1 | c.1984-35_1984-13dup (n.1984-35_1984-13dup) c.1930-35_1930-13dup (n.1930-35_1930-13dup) n.657-35_657-13dup c.183-35_183-13dup c.556-35_556-13dup (n.556-35_556-13dup) c.2053-35_2053-13dup (n.2053-35_2053-13dup) c.2008-35_2008-13dup (n.2008-35_2008-13dup) c.1999-35_1999-13dup (n.1999-35_1999-13dup) c.1939-35_1939-13dup (n.1939-35_1939-13dup) | ClinVar dbSNP |
| 3 | g.52402688G>A | CA543056497 | BAP1 | c.1984-14C>T (n.1984-14C>T) c.1930-14C>T (n.1930-14C>T) n.657-14C>T c.183-14C>T c.556-14C>T (n.556-14C>T) c.2053-14C>T (n.2053-14C>T) c.2008-14C>T (n.2008-14C>T) c.1999-14C>T (n.1999-14C>T) c.1939-14C>T (n.1939-14C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.52402688G>C | CA2666007258 | BAP1 | c.1984-14C>G (n.1984-14C>G) c.1930-14C>G (n.1930-14C>G) n.657-14C>G c.183-14C>G c.556-14C>G (n.556-14C>G) c.2053-14C>G (n.2053-14C>G) c.2008-14C>G (n.2008-14C>G) c.1999-14C>G (n.1999-14C>G) c.1939-14C>G (n.1939-14C>G) | ClinVar dbSNP gnomAD v4 |
| 3 | g.52402688G= | CA1364834968 | BAP1 | c.1984-14C= (n.1984-14C=) c.1930-14C= (n.1930-14C=) n.657-14C= c.183-14C= c.556-14C= (n.556-14C=) c.2053-14C= (n.2053-14C=) c.2008-14C= (n.2008-14C=) c.1999-14C= (n.1999-14C=) c.1939-14C= (n.1939-14C=) | |
| 3 | g.52402688G>T | CA2702571450 | BAP1 | c.1984-14C>A (n.1984-14C>A) c.1930-14C>A (n.1930-14C>A) n.657-14C>A c.183-14C>A c.556-14C>A (n.556-14C>A) c.2053-14C>A (n.2053-14C>A) c.2008-14C>A (n.2008-14C>A) c.1999-14C>A (n.1999-14C>A) c.1939-14C>A (n.1939-14C>A) | dbSNP |
| 3 | g.52402690A= | CA1364834970 | BAP1 | c.1984-16T= (n.1984-16T=) c.1930-16T= (n.1930-16T=) n.657-16T= c.183-16T= c.556-16T= (n.556-16T=) c.2053-16T= (n.2053-16T=) c.2008-16T= (n.2008-16T=) c.1999-16T= (n.1999-16T=) c.1939-16T= (n.1939-16T=) | |
| 3 | g.52402690A>C | CA74740047 | BAP1 | c.1984-16T>G (n.1984-16T>G) c.1930-16T>G (n.1930-16T>G) n.657-16T>G c.183-16T>G c.556-16T>G (n.556-16T>G) c.2053-16T>G (n.2053-16T>G) c.2008-16T>G (n.2008-16T>G) c.1999-16T>G (n.1999-16T>G) c.1939-16T>G (n.1939-16T>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.52402690A>T | CA2702549243 | BAP1 | c.1984-16T>A (n.1984-16T>A) c.1930-16T>A (n.1930-16T>A) n.657-16T>A c.183-16T>A c.556-16T>A (n.556-16T>A) c.2053-16T>A (n.2053-16T>A) c.2008-16T>A (n.2008-16T>A) c.1999-16T>A (n.1999-16T>A) c.1939-16T>A (n.1939-16T>A) | dbSNP |
| 3 | g.52402691G>A | CA2436629 | BAP1 | c.1984-17C>T (n.1984-17C>T) c.1930-17C>T (n.1930-17C>T) n.657-17C>T c.183-17C>T c.556-17C>T (n.556-17C>T) c.2053-17C>T (n.2053-17C>T) c.2008-17C>T (n.2008-17C>T) c.1999-17C>T (n.1999-17C>T) c.1939-17C>T (n.1939-17C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.52402691G>C | CA2702544295 | BAP1 | c.1984-17C>G (n.1984-17C>G) c.1930-17C>G (n.1930-17C>G) n.657-17C>G c.183-17C>G c.556-17C>G (n.556-17C>G) c.2053-17C>G (n.2053-17C>G) c.2008-17C>G (n.2008-17C>G) c.1999-17C>G (n.1999-17C>G) c.1939-17C>G (n.1939-17C>G) | dbSNP |
| 3 | g.52402691G= | CA1364834974 | BAP1 | c.1984-17C= (n.1984-17C=) c.1930-17C= (n.1930-17C=) n.657-17C= c.183-17C= c.556-17C= (n.556-17C=) c.2053-17C= (n.2053-17C=) c.2008-17C= (n.2008-17C=) c.1999-17C= (n.1999-17C=) c.1939-17C= (n.1939-17C=) | |
| 3 | g.52402692A>G | CA2666007269 | BAP1 | c.1984-18T>C (n.1984-18T>C) c.1930-18T>C (n.1930-18T>C) n.657-18T>C c.183-18T>C c.556-18T>C (n.556-18T>C) c.2053-18T>C (n.2053-18T>C) c.2008-18T>C (n.2008-18T>C) c.1999-18T>C (n.1999-18T>C) c.1939-18T>C (n.1939-18T>C) | dbSNP gnomAD v4 |
| 3 | g.52402692A>T | CA2702827529 | BAP1 | c.1984-18T>A (n.1984-18T>A) c.1930-18T>A (n.1930-18T>A) n.657-18T>A c.183-18T>A c.556-18T>A (n.556-18T>A) c.2053-18T>A (n.2053-18T>A) c.2008-18T>A (n.2008-18T>A) c.1999-18T>A (n.1999-18T>A) c.1939-18T>A (n.1939-18T>A) | dbSNP |
| 3 | g.52402693C>A | CA2702827532 | BAP1 | c.1984-19G>T (n.1984-19G>T) c.1930-19G>T (n.1930-19G>T) n.657-19G>T c.183-19G>T c.556-19G>T (n.556-19G>T) c.2053-19G>T (n.2053-19G>T) c.2008-19G>T (n.2008-19G>T) c.1999-19G>T (n.1999-19G>T) c.1939-19G>T (n.1939-19G>T) | dbSNP |
| 3 | g.52402693C= | CA1364834977 | BAP1 | c.1984-19G= (n.1984-19G=) c.1930-19G= (n.1930-19G=) n.657-19G= c.183-19G= c.556-19G= (n.556-19G=) c.2053-19G= (n.2053-19G=) c.2008-19G= (n.2008-19G=) c.1999-19G= (n.1999-19G=) c.1939-19G= (n.1939-19G=) | |
| 3 | g.52402693C>G | CA2702827546 | BAP1 | c.1984-19G>C (n.1984-19G>C) c.1930-19G>C (n.1930-19G>C) n.657-19G>C c.183-19G>C c.556-19G>C (n.556-19G>C) c.2053-19G>C (n.2053-19G>C) c.2008-19G>C (n.2008-19G>C) c.1999-19G>C (n.1999-19G>C) c.1939-19G>C (n.1939-19G>C) | dbSNP |
| 3 | g.52402693_52402695delinsCTG | CA1364834976 | BAP1 | c.1984-21_1984-19delinsCAG (n.1984-21_1984-19delinsCAG) c.1930-21_1930-19delinsCAG (n.1930-21_1930-19delinsCAG) n.657-21_657-19delinsCAG c.183-21_183-19delinsCAG c.556-21_556-19delinsCAG (n.556-21_556-19delinsCAG) c.2053-21_2053-19delinsCAG (n.2053-21_2053-19delinsCAG) c.2008-21_2008-19delinsCAG (n.2008-21_2008-19delinsCAG) c.1999-21_1999-19delinsCAG (n.1999-21_1999-19delinsCAG) c.1939-21_1939-19delinsCAG (n.1939-21_1939-19delinsCAG) |