Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.37734463_37734469delinsCTTGGAG | CA2404484959 | TRIOBP | c.4127_4133delinsCTTGGAG (p.Pro1376=) c.*3610_*3616delinsCTTGGAG (n.*3610_*3616delinsCTTGGAG) c.512-4110_512-4104delinsCTCCAAG (n.512-4110_512-4104delinsCTCCAAG) | |
22 | g.37734465_37734470del | CA920367314 | TRIOBP | c.4129_4134del (p.Trp1377_Ser1378del) c.*3612_*3617del (n.*3612_*3617del) c.512-4110_512-4105del (n.512-4110_512-4105del) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.37734464_37734476delinsTTGGAGTCCTGAG | CA2404484961 | TRIOBP | c.4128_4140delinsTTGGAGTCCTGAG (p.Pro1376=) c.*3611_*3623delinsTTGGAGTCCTGAG (n.*3611_*3623delinsTTGGAGTCCTGAG) c.512-4117_512-4105delinsCTCAGGACTCCAA (n.512-4117_512-4105delinsCTCAGGACTCCAA) | |
22 | g.37734465T>A | CA411488916 | TRIOBP | c.4129T>A (p.Trp1377Arg) c.*3612T>A (n.*3612T>A) c.512-4106A>T (n.512-4106A>T) | dbSNP gnomAD v4 |
22 | g.37734465T>C | CA133034 | TRIOBP | c.4129T>C (p.Trp1377Arg) c.*3612T>C (n.*3612T>C) c.512-4106A>G (n.512-4106A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.37734465T>G | CA411488922 | TRIOBP | c.4129T>G (p.Trp1377Gly) c.*3612T>G (n.*3612T>G) c.512-4106A>C (n.512-4106A>C) | dbSNP |
22 | g.37734465T= | CA2404484962 | TRIOBP | c.4129T= (p.Trp1377=) c.*3612T= (n.*3612T=) c.512-4106A= (n.512-4106A=) | |
22 | g.37734465_37734476del | CA752932400 | TRIOBP | c.4129_4140del (p.Trp1377_Glu1380del) c.*3612_*3623del (n.*3612_*3623del) c.512-4117_512-4106del (n.512-4117_512-4106del) | dbSNP |
22 | g.37734466G>A | CA10224322 | TRIOBP | c.4130G>A (p.Trp1377Ter) c.*3613G>A (n.*3613G>A) c.512-4107C>T (n.512-4107C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.37734466G>C | CA411488939 | TRIOBP | c.4130G>C (p.Trp1377Ser) c.*3613G>C (n.*3613G>C) c.512-4107C>G (n.512-4107C>G) | |
22 | g.37734466G= | CA2404484963 | TRIOBP | c.4130G= (p.Trp1377=) c.*3613G= (n.*3613G=) c.512-4107C= (n.512-4107C=) | |
22 | g.37734466G>T | CA411488929 | TRIOBP | c.4130G>T (p.Trp1377Leu) c.*3613G>T (n.*3613G>T) c.512-4107C>A (n.512-4107C>A) | gnomAD v4 COSMIC |
22 | g.37734467G>A | CA324141666 | TRIOBP | c.4131G>A (p.Trp1377Ter) c.*3614G>A (n.*3614G>A) c.512-4108C>T (n.512-4108C>T) | dbSNP gnomAD v4 |
22 | g.37734467G>C | CA411488962 | TRIOBP | c.4131G>C (p.Trp1377Cys) c.*3614G>C (n.*3614G>C) c.512-4108C>G (n.512-4108C>G) | |
22 | g.37734467G= | CA2404484964 | TRIOBP | c.4131G= (p.Trp1377=) c.*3614G= (n.*3614G=) c.512-4108C= (n.512-4108C=) | |
22 | g.37734467G>T | CA10224323 | TRIOBP | c.4131G>T (p.Trp1377Cys) c.*3614G>T (n.*3614G>T) c.512-4108C>A (n.512-4108C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.37734468A>C | CA411488973 | TRIOBP | c.4132A>C (p.Ser1378Arg) c.*3615A>C (n.*3615A>C) c.512-4109T>G (n.512-4109T>G) | |
22 | g.37734468A>G | CA411488978 | TRIOBP | c.4132A>G (p.Ser1378Gly) c.*3615A>G (n.*3615A>G) c.512-4109T>C (n.512-4109T>C) | |
22 | g.37734468A>T | CA411488981 | TRIOBP | c.4132A>T (p.Ser1378Cys) c.*3615A>T (n.*3615A>T) c.512-4109T>A (n.512-4109T>A) | |
22 | g.37734469G>A | CA411489005 | TRIOBP | c.4133G>A (p.Ser1378Asn) c.*3616G>A (n.*3616G>A) c.512-4110C>T (n.512-4110C>T) | |
22 | g.37734469G>C | CA411488988 | TRIOBP | c.4133G>C (p.Ser1378Thr) c.*3616G>C (n.*3616G>C) c.512-4110C>G (n.512-4110C>G) | |
22 | g.37734469G>T | CA411488994 | TRIOBP | c.4133G>T (p.Ser1378Ile) c.*3616G>T (n.*3616G>T) c.512-4110C>A (n.512-4110C>A) | |
22 | g.37734470T>A | CA411489010 | TRIOBP | c.4134T>A (p.Ser1378Arg) c.*3617T>A (n.*3617T>A) c.512-4111A>T (n.512-4111A>T) | |
22 | g.37734470T>C | CA514772538 | TRIOBP | c.4134T>C (p.Ser1378=) c.*3617T>C (n.*3617T>C) c.512-4111A>G (n.512-4111A>G) | |
22 | g.37734470T>G | CA411489023 | TRIOBP | c.4134T>G (p.Ser1378Arg) c.*3617T>G (n.*3617T>G) c.512-4111A>C (n.512-4111A>C) | |
22 | g.37734471C>A | CA411489027 | TRIOBP | c.4135C>A (p.Pro1379Thr) c.*3618C>A (n.*3618C>A) c.512-4112G>T (n.512-4112G>T) | |
22 | g.37734471C= | CA2404484966 | TRIOBP | c.4135C= (p.Pro1379=) c.*3618C= (n.*3618C=) c.512-4112G= (n.512-4112G=) | |
22 | g.37734471C>G | CA411489042 | TRIOBP | c.4135C>G (p.Pro1379Ala) c.*3618C>G (n.*3618C>G) c.512-4112G>C (n.512-4112G>C) | |
22 | g.37734471C>T | CA185109 | TRIOBP | c.4135C>T (p.Pro1379Ser) c.*3618C>T (n.*3618C>T) c.512-4112G>A (n.512-4112G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.37734471_37734477delinsCCTGAGA | CA2404484965 | TRIOBP | c.4135_4141delinsCCTGAGA (p.Pro1379=) c.*3618_*3624delinsCCTGAGA (n.*3618_*3624delinsCCTGAGA) c.512-4118_512-4112delinsTCTCAGG (n.512-4118_512-4112delinsTCTCAGG) | |
22 | g.37734472C>A | CA411489066 | TRIOBP | c.4136C>A (p.Pro1379His) c.*3619C>A (n.*3619C>A) c.512-4113G>T (n.512-4113G>T) | gnomAD v4 |
22 | g.37734472C>G | CA411489075 | TRIOBP | c.4136C>G (p.Pro1379Arg) c.*3619C>G (n.*3619C>G) c.512-4113G>C (n.512-4113G>C) | |
22 | g.37734472C>T | CA411489070 | TRIOBP | c.4136C>T (p.Pro1379Leu) c.*3619C>T (n.*3619C>T) c.512-4113G>A (n.512-4113G>A) | dbSNP gnomAD v4 |
22 | g.37734472_37734477del | CA514772541 | TRIOBP | c.4136_4141del (p.Pro1379_Lys1381delinsGln) c.*3619_*3624del (n.*3619_*3624del) c.512-4118_512-4113del (n.512-4118_512-4113del) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.37734473T>A | CA514772544 | TRIOBP | c.4137T>A (p.Pro1379=) c.*3620T>A (n.*3620T>A) c.512-4114A>T (n.512-4114A>T) | |
22 | g.37734473T>C | CA10224324 | TRIOBP | c.4137T>C (p.Pro1379=) c.*3620T>C (n.*3620T>C) c.512-4114A>G (n.512-4114A>G) | dbSNP ExAC gnomAD v2 |
22 | g.37734473T>G | CA10224325 | TRIOBP | c.4137T>G (p.Pro1379=) c.*3620T>G (n.*3620T>G) c.512-4114A>C (n.512-4114A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.37734473T= | CA2404484967 | TRIOBP | c.4137T= (p.Pro1379=) c.*3620T= (n.*3620T=) c.512-4114A= (n.512-4114A=) | |
22 | g.37734474G>A | CA411489095 | TRIOBP | c.4138G>A (p.Glu1380Lys) c.*3621G>A (n.*3621G>A) c.512-4115C>T (n.512-4115C>T) | |
22 | g.37734474G>C | CA411489098 | TRIOBP | c.4138G>C (p.Glu1380Gln) c.*3621G>C (n.*3621G>C) c.512-4115C>G (n.512-4115C>G) | |
22 | g.37734474G>T | CA411489101 | TRIOBP | c.4138G>T (p.Glu1380Ter) c.*3621G>T (n.*3621G>T) c.512-4115C>A (n.512-4115C>A) | COSMIC |
22 | g.37734475A= | CA2404484968 | TRIOBP | c.4139A= (p.Glu1380=) c.*3622A= (n.*3622A=) c.512-4116T= (n.512-4116T=) | |
22 | g.37734475A>C | CA411489102 | TRIOBP | c.4139A>C (p.Glu1380Ala) c.*3622A>C (n.*3622A>C) c.512-4116T>G (n.512-4116T>G) | |
22 | g.37734475A>G | CA182548 | TRIOBP | c.4139A>G (p.Glu1380Gly) c.*3622A>G (n.*3622A>G) c.512-4116T>C (n.512-4116T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.37734475A>T | CA411489108 | TRIOBP | c.4139A>T (p.Glu1380Val) c.*3622A>T (n.*3622A>T) c.512-4116T>A (n.512-4116T>A) | |
22 | g.37734476G>A | CA10224326 | TRIOBP | c.4140G>A (p.Glu1380=) c.*3623G>A (n.*3623G>A) c.512-4117C>T (n.512-4117C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.37734476G>C | CA411489123 | TRIOBP | c.4140G>C (p.Glu1380Asp) c.*3623G>C (n.*3623G>C) c.512-4117C>G (n.512-4117C>G) | dbSNP gnomAD v4 |
22 | g.37734476G= | CA2404484969 | TRIOBP | c.4140G= (p.Glu1380=) c.*3623G= (n.*3623G=) c.512-4117C= (n.512-4117C=) | |
22 | g.37734476G>T | CA411489133 | TRIOBP | c.4140G>T (p.Glu1380Asp) c.*3623G>T (n.*3623G>T) c.512-4117C>A (n.512-4117C>A) | gnomAD v4 |
22 | g.37734477A= | CA2404484970 | TRIOBP | c.4141A= (p.Lys1381=) c.*3624A= (n.*3624A=) c.512-4118T= (n.512-4118T=) |