Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.24261826C>A | CA389278456 | TGM1 | c.377G>T (p.Arg126Leu) c.-29+301G>T (n.-29+301G>T) | gnomAD v4 |
14 | g.24261826C= | CA2123855958 | TGM1 | c.377G= (p.Arg126=) c.-29+301G= (n.-29+301G=) | |
14 | g.24261826C>G | CA389278457 | TGM1 | c.377G>C (p.Arg126Pro) c.-29+301G>C (n.-29+301G>C) | |
14 | g.24261826C>T | CA501082 | TGM1 | c.377G>A (p.Arg126His) c.-29+301G>A (n.-29+301G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
14 | g.24261827G>A | CA261150 | TGM1 | c.376C>T (p.Arg126Cys) c.-29+300C>T (n.-29+300C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.24261827G>C | CA389278488 | TGM1 | c.376C>G (p.Arg126Gly) c.-29+300C>G (n.-29+300C>G) | |
14 | g.24261827G= | CA2123855959 | TGM1 | c.376C= (p.Arg126=) c.-29+300C= (n.-29+300C=) | |
14 | g.24261827G>T | CA389278492 | TGM1 | c.376C>A (p.Arg126Ser) c.-29+300C>A (n.-29+300C>A) | |
14 | g.24261828dup | CA389278463 | TGM1 | c.376dup (p.Arg126ProfsTer10) c.-29+300dup (n.-29+300dup) | dbSNP COSMIC |
14 | g.24261827_24261832delinsGGTTCT | CA2123855960 | TGM1 | c.371_376delinsAGAACC (p.Gln124=) c.-29+295_-29+300delinsAGAACC (n.-29+295_-29+300delinsAGAACC) | |
14 | g.24261827_24261828insC | CA485783380 | TGM1 | c.375_376insG (p.Arg126AlafsTer10) c.-29+299_-29+300insG (n.-29+299_-29+300insG) | |
14 | g.24261828G>A | CA485783381 | TGM1 | c.375C>T (p.Asn125=) c.-29+299C>T (n.-29+299C>T) | ClinVar dbSNP |
14 | g.24261828G>C | CA389278500 | TGM1 | c.375C>G (p.Asn125Lys) c.-29+299C>G (n.-29+299C>G) | |
14 | g.24261828G>T | CA389278494 | TGM1 | c.375C>A (p.Asn125Lys) c.-29+299C>A (n.-29+299C>A) | |
14 | g.24261828_24261829delinsGT | CA2123855961 | TGM1 | c.374_375delinsAC (p.Asn125=) c.-29+298_-29+299delinsAC (n.-29+298_-29+299delinsAC) | |
14 | g.24261829_24261833del | CA389278496 | TGM1 | c.371_375del (p.Gln124ProfsTer10) c.-29+295_-29+299del (n.-29+295_-29+299del) | dbSNP |
14 | g.24261829T>A | CA389278531 | TGM1 | c.374A>T (p.Asn125Ile) c.-29+298A>T (n.-29+298A>T) | gnomAD v4 |
14 | g.24261829T>C | CA389278524 | TGM1 | c.374A>G (p.Asn125Ser) c.-29+298A>G (n.-29+298A>G) | gnomAD v4 |
14 | g.24261829T>G | CA389278535 | TGM1 | c.374A>C (p.Asn125Thr) c.-29+298A>C (n.-29+298A>C) | |
14 | g.24261830del | CA2123855962 | TGM1 | c.374del (p.Asn125ThrfsTer15) c.-29+298del (n.-29+298del) c.374del (p.Asn125ThrfsTer?) | dbSNP |
14 | g.24261830T>A | CA389278539 | TGM1 | c.373A>T (p.Asn125Tyr) c.-29+297A>T (n.-29+297A>T) | |
14 | g.24261830T>C | CA389278540 | TGM1 | c.373A>G (p.Asn125Asp) c.-29+297A>G (n.-29+297A>G) | |
14 | g.24261830T>G | CA389278547 | TGM1 | c.373A>C (p.Asn125His) c.-29+297A>C (n.-29+297A>C) | |
14 | g.24261831C>A | CA389278550 | TGM1 | c.372G>T (p.Gln124His) c.-29+296G>T (n.-29+296G>T) | |
14 | g.24261831C= | CA2123855963 | TGM1 | c.372G= (p.Gln124=) c.-29+296G= (n.-29+296G=) | |
14 | g.24261831C>G | CA389278553 | TGM1 | c.372G>C (p.Gln124His) c.-29+296G>C (n.-29+296G>C) | gnomAD v4 |
14 | g.24261831C>T | CA485783384 | TGM1 | c.372G>A (p.Gln124=) c.-29+296G>A (n.-29+296G>A) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.24261832T>A | CA389278556 | TGM1 | c.371A>T (p.Gln124Leu) c.-29+295A>T (n.-29+295A>T) | |
14 | g.24261832T>C | CA389278570 | TGM1 | c.371A>G (p.Gln124Arg) c.-29+295A>G (n.-29+295A>G) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.24261832T>G | CA389278574 | TGM1 | c.371A>C (p.Gln124Pro) c.-29+295A>C (n.-29+295A>C) | |
14 | g.24261832T= | CA2123855964 | TGM1 | c.371A= (p.Gln124=) c.-29+295A= (n.-29+295A=) | |
14 | g.24261833G>A | CA257901645 | TGM1 | c.370C>T (p.Gln124Ter) c.-29+294C>T (n.-29+294C>T) | dbSNP |
14 | g.24261833G>C | CA389278576 | TGM1 | c.370C>G (p.Gln124Glu) c.-29+294C>G (n.-29+294C>G) | |
14 | g.24261833G= | CA2123855965 | TGM1 | c.370C= (p.Gln124=) c.-29+294C= (n.-29+294C=) | |
14 | g.24261833G>T | CA389278578 | TGM1 | c.370C>A (p.Gln124Lys) c.-29+294C>A (n.-29+294C>A) | |
14 | g.24261834G>A | CA7131435 | TGM1 | c.369C>T (p.Asp123=) c.-29+293C>T (n.-29+293C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.24261834G>C | CA389278597 | TGM1 | c.369C>G (p.Asp123Glu) c.-29+293C>G (n.-29+293C>G) | |
14 | g.24261834G= | CA2123855966 | TGM1 | c.369C= (p.Asp123=) c.-29+293C= (n.-29+293C=) | |
14 | g.24261834G>T | CA389278581 | TGM1 | c.369C>A (p.Asp123Glu) c.-29+293C>A (n.-29+293C>A) | |
14 | g.24261835T>A | CA389278610 | TGM1 | c.368A>T (p.Asp123Val) c.-29+292A>T (n.-29+292A>T) | |
14 | g.24261835T>C | CA257901647 | TGM1 | c.368A>G (p.Asp123Gly) c.-29+292A>G (n.-29+292A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.24261835T>G | CA389278615 | TGM1 | c.368A>C (p.Asp123Ala) c.-29+292A>C (n.-29+292A>C) | |
14 | g.24261835T= | CA2123855967 | TGM1 | c.368A= (p.Asp123=) c.-29+292A= (n.-29+292A=) | |
14 | g.24261836C>A | CA389278626 | TGM1 | c.367G>T (p.Asp123Tyr) c.-29+291G>T (n.-29+291G>T) | |
14 | g.24261836C= | CA2123855968 | TGM1 | c.367G= (p.Asp123=) c.-29+291G= (n.-29+291G=) | |
14 | g.24261836C>G | CA389278627 | TGM1 | c.367G>C (p.Asp123His) c.-29+291G>C (n.-29+291G>C) | dbSNP |
14 | g.24261836C>T | CA389278628 | TGM1 | c.367G>A (p.Asp123Asn) c.-29+291G>A (n.-29+291G>A) | |
14 | g.24261837C>A | CA485783390 | TGM1 | c.366G>T (p.Ser122=) c.-29+290G>T (n.-29+290G>T) | ClinVar dbSNP |
14 | g.24261837C= | CA2123855969 | TGM1 | c.366G= (p.Ser122=) c.-29+290G= (n.-29+290G=) | |
14 | g.24261837C>G | CA485783391 | TGM1 | c.366G>C (p.Ser122=) c.-29+290G>C (n.-29+290G>C) | gnomAD v4 |