Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.240868866_240871449del | CA2741808836 | AGXT | c.1_524del n.21_544del | ClinVar |
2 | g.240868898dup | CA345700 | AGXT | c.33dup (p.Lys12GlnfsTer?) n.53dup n.405+1342dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.240868897_240868898dup | CA2664004508 | AGXT | c.32_33dup (p.Lys12ProfsTer?) n.52_53dup n.405+1341_405+1342dup | gnomAD v4 |
2 | g.240868898del | CA273942 | AGXT | c.33del (p.Lys12ArgfsTer?) n.53del n.405+1342del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.240868897_240868898del | CA275814 | AGXT | c.32_33del (p.Pro11GlnfsTer?) n.52_53del n.405+1341_405+1342del | ClinVar dbSNP |
2 | g.240868893C>A | CA2208963 | AGXT | c.28C>A (p.Pro10Thr) n.48C>A n.405+1340G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240868893C= | CA1339330748 | AGXT | c.28C= (p.Pro10=) n.48C= n.405+1340G= | |
2 | g.240868893C>G | CA2208964 | AGXT | c.28C>G (p.Pro10Ala) n.48C>G n.405+1340G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240868893C>T | CA275619 | AGXT | c.28C>T (p.Pro10Ser) n.48C>T n.405+1340G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240868893_240868894delinsA | CA2586971627 | AGXT | c.28_29delinsA (p.Pro10ThrfsTer?) n.48_49delinsA n.405+1339_405+1340delinsT | ClinVar |
2 | g.240868894C>A | CA2208965 | AGXT | c.29C>A (p.Pro10His) n.49C>A n.405+1339G>T | dbSNP ExAC gnomAD v2 |
2 | g.240868894C= | CA1339330749 | AGXT | c.29C= (p.Pro10=) n.49C= n.405+1339G= | |
2 | g.240868894C>G | CA351312723 | AGXT | c.29C>G (p.Pro10Arg) n.49C>G n.405+1339G>C | |
2 | g.240868894C>T | CA351312726 | AGXT | c.29C>T (p.Pro10Leu) n.49C>T n.405+1339G>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.240868895C>A | CA432234740 | AGXT | c.30C>A (p.Pro10=) n.50C>A n.405+1338G>T | |
2 | g.240868895C>G | CA432234741 | AGXT | c.30C>G (p.Pro10=) n.50C>G n.405+1338G>C | |
2 | g.240868895C>T | CA432234742 | AGXT | c.30C>T (p.Pro10=) n.50C>T n.405+1338G>A | |
2 | g.240868896C>A | CA2208967 | AGXT | c.31C>A (p.Pro11Thr) n.51C>A n.405+1337G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240868896C= | CA1339330750 | AGXT | c.31C= (p.Pro11=) n.51C= n.405+1337G= | |
2 | g.240868896C>G | CA2208966 | AGXT | c.31C>G (p.Pro11Ala) n.51C>G n.405+1337G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.240868896C>T | CA2208968 | AGXT | c.31C>T (p.Pro11Ser) n.51C>T n.405+1337G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240868896_240868897insT | CA2573135690 | AGXT | c.31_32insT (p.Pro11LeufsTer?) n.51_52insT n.405+1336_405+1337insA | ClinVar dbSNP |
2 | g.240868897C>A | CA275544 | AGXT | c.32C>A (p.Pro11His) n.52C>A n.405+1336G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240868897C= | CA1339330751 | AGXT | c.32C= (p.Pro11=) n.52C= n.405+1336G= | |
2 | g.240868897C>G | CA275621 | AGXT | c.32C>G (p.Pro11Arg) n.52C>G n.405+1336G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240868897C>T | CA200272 | AGXT | c.32C>T (p.Pro11Leu) n.52C>T n.405+1336G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.[240868897C>T;240875994T>C] | CA2742038352 | AGXT | c.[32C>T;836T>C] (p.[Pro11Leu;Ile279Thr]) | ClinVar |
2 | g.240868897_240868898delinsTG | CA2499215811 | AGXT | c.32_33delinsTG (p.Pro11Leu) n.52_53delinsTG n.405+1335_405+1336delinsCA | ClinVar dbSNP |
2 | g.240868897_240868898delinsTT | CA2740096543 | AGXT | c.32_33delinsTT (p.Pro11Leu) n.52_53delinsTT n.405+1335_405+1336delinsAA | ClinVar |
2 | g.240868897_240868898insT | CA2664004635 | AGXT | c.32_33insT (p.Lys12GlnfsTer?) n.52_53insT n.405+1335_405+1336insA | ClinVar gnomAD v4 |
2 | g.240868898C>A | CA432234746 | AGXT | c.33C>A (p.Pro11=) n.53C>A n.405+1335G>T | ClinVar dbSNP gnomAD v4 |
2 | g.240868898C= | CA1339330752 | AGXT | c.33C= (p.Pro11=) n.53C= n.405+1335G= | |
2 | g.240868898C>G | CA432234747 | AGXT | c.33C>G (p.Pro11=) n.53C>G n.405+1335G>C | ClinVar dbSNP gnomAD v2 |
2 | g.240868898C>T | CA432234748 | AGXT | c.33C>T (p.Pro11=) n.53C>T n.405+1335G>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.240868899A>C | CA351312740 | AGXT | c.34A>C (p.Lys12Gln) n.54A>C n.405+1334T>G | dbSNP |
2 | g.240868899A>G | CA351312742 | AGXT | c.34A>G (p.Lys12Glu) n.54A>G n.405+1334T>C | |
2 | g.240868899A>T | CA351312745 | AGXT | c.34A>T (p.Lys12Ter) n.54A>T n.405+1334T>A | |
2 | g.240868899_240868900dup | CA2586971628 | AGXT | c.34_35dup (p.Ala13ArgfsTer?) n.54_55dup n.405+1333_405+1334dup | ClinVar |
2 | g.240868900del | CA2664004642 | AGXT | c.35del (p.Lys12ArgfsTer?) n.55del n.405+1334del | gnomAD v4 |
2 | g.240868900A= | CA1339330753 | AGXT | c.35A= (p.Lys12=) n.55A= n.405+1333T= | |
2 | g.240868900A>C | CA351312749 | AGXT | c.35A>C (p.Lys12Thr) n.55A>C n.405+1333T>G | |
2 | g.240868900A>G | CA275546 | AGXT | c.35A>G (p.Lys12Arg) n.55A>G n.405+1333T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240868900A>T | CA351312753 | AGXT | c.35A>T (p.Lys12Met) n.55A>T n.405+1333T>A | |
2 | g.240868901G>A | CA432234751 | AGXT | c.36G>A (p.Lys12=) n.56G>A n.405+1332C>T | |
2 | g.240868901G>C | CA351312756 | AGXT | c.36G>C (p.Lys12Asn) n.56G>C n.405+1332C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240868901G= | CA1339330754 | AGXT | c.36G= (p.Lys12=) n.56G= n.405+1332C= | |
2 | g.240868901G>T | CA351312758 | AGXT | c.36G>T (p.Lys12Asn) n.56G>T n.405+1332C>A | |
2 | g.240868902G>A | CA351312761 | AGXT | c.37G>A (p.Ala13Thr) n.57G>A n.405+1331C>T | gnomAD v4 |
2 | g.240868902G>C | CA351312764 | AGXT | c.37G>C (p.Ala13Pro) n.57G>C n.405+1331C>G | ClinVar |
2 | g.240868902G>T | CA351312766 | AGXT | c.37G>T (p.Ala13Ser) n.57G>T n.405+1331C>A |