Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.31356171_31356180del | CA2578564568 | HLA-B | n.2084_2093del n.2084_2092+1del c.611_619+1del c.644_652+1del n.486_495del n.877_885+1del n.621_630del | |
6 | g.31356168_31356379del | CA1087467319 | HLA-B | n.1882_2093del n.1882_2092+1del c.409_619+1del c.442_652+1del n.284_495del n.675_885+1del n.419_630del | gnomAD v3 gnomAD v4 |
6 | g.31356169_31356184del | CA2677956558 | HLA-B | n.2075_2090del c.602_617del (p.Asp201ValfsTer8) c.602_617del (p.Asp201ValfsTer?) c.635_650del (p.Asp212ValfsTer8) n.477_492del n.868_883del n.612_627del | gnomAD v4 |
6 | g.31356180del | CA2677956560 | HLA-B | n.2079del c.606del (p.Lys202AsnfsTer12) c.606del (p.Lys202AsnfsTer?) c.639del (p.Lys213AsnfsTer12) n.481del n.872del n.616del | gnomAD v4 |
6 | g.31356180C>A | CA363312115 | HLA-B | n.2079G>T c.606G>T (p.Lys202Asn) c.639G>T (p.Lys213Asn) n.481G>T n.872G>T n.616G>T | gnomAD v3 gnomAD v4 |
6 | g.31356180C= | CA1619120210 | HLA-B | n.2079G= c.606G= (p.Lys202=) c.639G= (p.Lys213=) n.481G= n.872G= n.616G= | |
6 | g.31356180C>G | CA136833529 | HLA-B | n.2079G>C c.606G>C (p.Lys202Asn) c.639G>C (p.Lys213Asn) n.481G>C n.872G>C n.616G>C | dbSNP gnomAD v4 |
6 | g.31356180C>T | CA449790655 | HLA-B | n.2079G>A c.606G>A (p.Lys202=) c.639G>A (p.Lys213=) n.481G>A n.872G>A n.616G>A | |
6 | g.31356180_31356181insGTCTCC | CA566689262 | HLA-B | n.2079_2080insGAGACG c.606_607insGAGACG (p.Lys202_Leu203insGluThr) c.639_640insGAGACG (p.Lys213_Leu214insGluThr) n.481_482insGAGACG n.872_873insGAGACG n.616_617insGAGACG | dbSNP gnomAD v2 |
6 | g.31356180_31356181del | CA2677956561 | HLA-B | n.2078_2079del c.605_606del (p.Lys202ThrfsTer5) c.638_639del (p.Lys213ThrfsTer5) n.480_481del n.871_872del n.615_616del | gnomAD v4 |
6 | g.31356180_31356182delinsCTT | CA1619120212 | HLA-B | n.2077_2079delinsAAG c.604_606delinsAAG (p.Lys202=) c.637_639delinsAAG (p.Lys213=) n.479_481delinsAAG n.870_872delinsAAG n.614_616delinsAAG | |
6 | g.31356180_31356181insG | CA566689263 | HLA-B | n.2078_2079insC c.605_606insC (p.Lys202AsnfsTer6) c.638_639insC (p.Lys213AsnfsTer6) n.480_481insC n.871_872insC n.615_616insC | gnomAD v2 gnomAD v4 |
6 | g.31356181T>A | CA363312119 | HLA-B | n.2078A>T c.605A>T (p.Lys202Met) c.638A>T (p.Lys213Met) n.480A>T n.871A>T n.615A>T | dbSNP gnomAD v2 gnomAD v4 |
6 | g.31356181T>C | CA363312121 | HLA-B | n.2078A>G c.605A>G (p.Lys202Arg) c.638A>G (p.Lys213Arg) n.480A>G n.871A>G n.615A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.31356181T>G | CA3711490 | HLA-B | n.2078A>C c.605A>C (p.Lys202Thr) c.638A>C (p.Lys213Thr) n.480A>C n.871A>C n.615A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.31356181T= | CA1619120224 | HLA-B | n.2078A= c.605A= (p.Lys202=) c.638A= (p.Lys213=) n.480A= n.871A= n.615A= | |
6 | g.31356181_31356182del | CA3711489 | HLA-B | n.2077_2078del c.604_605del (p.Lys202AlafsTer5) c.637_638del (p.Lys213AlafsTer5) n.479_480del n.870_871del n.614_615del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.31356182del | CA2677956562 | HLA-B | n.2078del c.605del (p.Lys202SerfsTer12) c.605del (p.Lys202SerfsTer?) c.638del (p.Lys213SerfsTer12) n.480del n.871del n.615del | gnomAD v4 |
6 | g.31356181_31356183delinsGTC | CA136833537 | HLA-B | n.2076_2078delinsGAC c.603_605delinsGAC (p.Asp201_Lys202delinsGluThr) c.636_638delinsGAC (p.Asp212_Lys213delinsGluThr) n.478_480delinsGAC n.869_871delinsGAC n.613_615delinsGAC | dbSNP |
6 | g.31356181_31356183delinsTTG | CA1619120218 | HLA-B | n.2076_2078delinsCAA c.603_605delinsCAA (p.Asp201=) c.636_638delinsCAA (p.Asp212=) n.478_480delinsCAA n.869_871delinsCAA n.613_615delinsCAA | |
6 | g.31356181_31356182insCTCCTTCCC | CA2677956563 | HLA-B | n.2077_2078insGGGAAGGAG c.604_605insGGGAAGGAG (p.Lys202delinsArgGluGlyGlu) c.637_638insGGGAAGGAG (p.Lys213delinsArgGluGlyGlu) n.479_480insGGGAAGGAG n.870_871insGGGAAGGAG n.614_615insGGGAAGGAG | gnomAD v4 |
6 | g.31356181_31356182insCTCCTTCCCG | CA2677956564 | HLA-B | n.2077_2078insCGGGAAGGAG c.604_605insCGGGAAGGAG (p.Lys202ThrfsTer9) c.637_638insCGGGAAGGAG (p.Lys213ThrfsTer9) n.479_480insCGGGAAGGAG n.870_871insCGGGAAGGAG n.614_615insCGGGAAGGAG | gnomAD v4 |
6 | g.31356181_31356182insGCGGAGCCACTCCACGCACA | CA2677956565 | HLA-B | n.2077_2078insTGTGCGTGGAGTGGCTCCGC c.604_605insTGTGCGTGGAGTGGCTCCGC (p.Lys202MetfsTer19) c.604_605insTGTGCGTGGAGTGGCTCCGC (p.Lys202MetfsTer?) c.637_638insTGTGCGTGGAGTGGCTCCGC (p.Lys213MetfsTer19) n.479_480insTGTGCGTGGAGTGGCTCCGC n.870_871insTGTGCGTGGAGTGGCTCCGC n.614_615insTGTGCGTGGAGTGGCTCCGC | gnomAD v4 |
6 | g.31356182T>A | CA363312125 | HLA-B | n.2077A>T c.604A>T (p.Lys202Ter) c.637A>T (p.Lys213Ter) n.479A>T n.870A>T n.614A>T | gnomAD v4 |
6 | g.31356182T>C | CA363312127 | HLA-B | n.2077A>G c.604A>G (p.Lys202Glu) c.637A>G (p.Lys213Glu) n.479A>G n.870A>G n.614A>G | gnomAD v4 |
6 | g.31356182T>G | CA363312129 | HLA-B | n.2077A>C c.604A>C (p.Lys202Gln) c.637A>C (p.Lys213Gln) n.479A>C n.870A>C n.614A>C | gnomAD v3 gnomAD v4 |
6 | g.31356182T= | CA1619120229 | HLA-B | n.2077A= c.604A= (p.Lys202=) c.637A= (p.Lys213=) n.479A= n.870A= n.614A= | |
6 | g.31356183_31356184del | CA363312130 | HLA-B | n.2076_2077del c.603_604del (p.Asp201GlufsTer6) c.636_637del (p.Asp212GlufsTer6) n.478_479del n.869_870del n.613_614del | |
6 | g.31356182_31356183insCCC | CA566689264 | HLA-B | n.2076_2077insGGG c.603_604insGGG (p.Asp201_Lys202insGly) c.636_637insGGG (p.Asp212_Lys213insGly) n.478_479insGGG n.869_870insGGG n.613_614insGGG | dbSNP gnomAD v2 |
6 | g.31356183G>A | CA136833551 | HLA-B | n.2076C>T c.603C>T (p.Asp201=) c.636C>T (p.Asp212=) n.478C>T n.869C>T n.613C>T | dbSNP gnomAD v4 |
6 | g.31356183G>C | CA3711491 | HLA-B | n.2076C>G c.603C>G (p.Asp201Glu) c.636C>G (p.Asp212Glu) n.478C>G n.869C>G n.613C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.31356183G= | CA1619120235 | HLA-B | n.2076C= c.603C= (p.Asp201=) c.636C= (p.Asp212=) n.478C= n.869C= n.613C= | |
6 | g.31356183G>T | CA363312133 | HLA-B | n.2076C>A c.603C>A (p.Asp201Glu) c.636C>A (p.Asp212Glu) n.478C>A n.869C>A n.613C>A | gnomAD v2 gnomAD v4 |
6 | g.31356183_31356184insAC | CA1087467377 | HLA-B | n.2075_2076insGT c.602_603insGT (p.Asp201GlufsTer14) c.602_603insGT (p.Asp201GlufsTer?) c.635_636insGT (p.Asp212GlufsTer14) n.477_478insGT n.868_869insGT n.612_613insGT | gnomAD v3 gnomAD v4 |
6 | g.31356183_31356184insCC | CA1087467373 | HLA-B | n.2075_2076insGG c.602_603insGG (p.Asp201GlufsTer14) c.602_603insGG (p.Asp201GlufsTer?) c.635_636insGG (p.Asp212GlufsTer14) n.477_478insGG n.868_869insGG n.612_613insGG | gnomAD v3 gnomAD v4 |
6 | g.31356183_31356184insGC | CA3711492 | HLA-B | n.2075_2076insGC c.602_603insGC (p.Asp201GlufsTer14) c.602_603insGC (p.Asp201GlufsTer?) c.635_636insGC (p.Asp212GlufsTer14) n.477_478insGC n.868_869insGC n.612_613insGC | dbSNP ExAC gnomAD v3 gnomAD v4 |
6 | g.31356183_31356184insCAGCGTC | CA2677956566 | HLA-B | n.2075_2076insGACGCTG c.602_603insGACGCTG (p.Asp201GlufsTer9) c.635_636insGACGCTG (p.Asp212GlufsTer9) n.477_478insGACGCTG n.868_869insGACGCTG n.612_613insGACGCTG | gnomAD v4 |
6 | g.31356183_31356184insCTGCAGCGTC | CA566689265 | HLA-B | n.2075_2076insGACGCTGCAG c.602_603insGACGCTGCAG (p.Asp201GlufsTer10) c.635_636insGACGCTGCAG (p.Asp212GlufsTer10) n.477_478insGACGCTGCAG n.868_869insGACGCTGCAG n.612_613insGACGCTGCAG | gnomAD v2 |
6 | g.31356184T>A | CA363312138 | HLA-B | n.2075A>T c.602A>T (p.Asp201Val) c.635A>T (p.Asp212Val) n.477A>T n.868A>T n.612A>T | gnomAD v3 gnomAD v4 |
6 | g.31356184T>C | CA136833555 | HLA-B | n.2075A>G c.602A>G (p.Asp201Gly) c.635A>G (p.Asp212Gly) n.477A>G n.868A>G n.612A>G | dbSNP gnomAD v4 |
6 | g.31356184T>G | CA363312135 | HLA-B | n.2075A>C c.602A>C (p.Asp201Ala) c.635A>C (p.Asp212Ala) n.477A>C n.868A>C n.612A>C | gnomAD v3 gnomAD v4 |
6 | g.31356184T= | CA1619120241 | HLA-B | n.2075A= c.602A= (p.Asp201=) c.635A= (p.Asp212=) n.477A= n.868A= n.612A= | |
6 | g.31356184_31356185dup | CA136833557 | HLA-B | n.2074_2075dup c.601_602dup (p.Asp201GlufsTer14) c.601_602dup (p.Asp201GlufsTer?) c.634_635dup (p.Asp212GlufsTer14) n.476_477dup n.867_868dup n.611_612dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.31356185C>A | CA363312141 | HLA-B | n.2074G>T c.601G>T (p.Asp201Tyr) c.634G>T (p.Asp212Tyr) n.476G>T n.867G>T n.611G>T | dbSNP gnomAD v4 |
6 | g.31356185C= | CA1619120245 | HLA-B | n.2074G= c.601G= (p.Asp201=) c.634G= (p.Asp212=) n.476G= n.867G= n.611G= | |
6 | g.31356185C>G | CA363312143 | HLA-B | n.2074G>C c.601G>C (p.Asp201His) c.634G>C (p.Asp212His) n.476G>C n.867G>C n.611G>C | gnomAD v4 |
6 | g.31356185C>T | CA3711494 | HLA-B | n.2074G>A c.601G>A (p.Asp201Asn) c.634G>A (p.Asp212Asn) n.476G>A n.867G>A n.611G>A | dbSNP ExAC gnomAD v4 |
6 | g.31356185_31356186insAC | CA2677956567 | HLA-B | n.2074_2075insTG c.601_602insTG (p.Asp201ValfsTer14) c.601_602insTG (p.Asp201ValfsTer?) c.634_635insTG (p.Asp212ValfsTer14) n.476_477insTG n.867_868insTG n.611_612insTG | gnomAD v4 |
6 | g.31356185_31356186insGC | CA1087467388 | HLA-B | n.2074_2075insCG c.601_602insCG (p.Asp201AlafsTer14) c.601_602insCG (p.Asp201AlafsTer?) c.634_635insCG (p.Asp212AlafsTer14) n.476_477insCG n.867_868insCG n.611_612insCG | gnomAD v3 gnomAD v4 |
6 | g.31356185_31356186dup | CA1087467387 | HLA-B | n.2073_2074dup c.600_601dup (p.Asp201GlyfsTer14) c.600_601dup (p.Asp201GlyfsTer?) c.633_634dup (p.Asp212GlyfsTer14) n.475_476dup n.866_867dup n.610_611dup | gnomAD v3 gnomAD v4 |