Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.149977951del | CA915942680 | SLC26A2 | n.531del c.299del (p.Pro100GlnfsTer5) | ClinVar dbSNP |
5 | g.149977950C>A | CA361704691 | SLC26A2 | n.530C>A c.298C>A (p.Pro100Thr) | |
5 | g.149977950C= | CA1590737347 | SLC26A2 | n.530C= c.298C= (p.Pro100=) | |
5 | g.149977950C>G | CA361704692 | SLC26A2 | n.530C>G c.298C>G (p.Pro100Ala) | gnomAD v4 |
5 | g.149977950C>T | CA3505231 | SLC26A2 | n.530C>T c.298C>T (p.Pro100Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.149977951C>A | CA361704693 | SLC26A2 | n.531C>A c.299C>A (p.Pro100Gln) | |
5 | g.149977951C= | CA1590737348 | SLC26A2 | n.531C= c.299C= (p.Pro100=) | |
5 | g.149977951C>G | CA3505232 | SLC26A2 | n.531C>G c.299C>G (p.Pro100Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.149977951C>T | CA361704694 | SLC26A2 | n.531C>T c.299C>T (p.Pro100Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.149977952A>C | CA447401864 | SLC26A2 | n.532A>C c.300A>C (p.Pro100=) | |
5 | g.149977952A>G | CA447401865 | SLC26A2 | n.532A>G c.300A>G (p.Pro100=) | gnomAD v4 |
5 | g.149977952A>T | CA447401866 | SLC26A2 | n.532A>T c.300A>T (p.Pro100=) | |
5 | g.149977953A>C | CA361704695 | SLC26A2 | n.533A>C c.301A>C (p.Lys101Gln) | |
5 | g.149977953A>G | CA361704696 | SLC26A2 | n.533A>G c.301A>G (p.Lys101Glu) | |
5 | g.149977953A>T | CA361704697 | SLC26A2 | n.533A>T c.301A>T (p.Lys101Ter) | |
5 | g.149977954A>C | CA361704698 | SLC26A2 | n.534A>C c.302A>C (p.Lys101Thr) | |
5 | g.149977954A>G | CA361704699 | SLC26A2 | n.534A>G c.302A>G (p.Lys101Arg) | |
5 | g.149977954A>T | CA361704700 | SLC26A2 | n.534A>T c.302A>T (p.Lys101Ile) | |
5 | g.149977955A>C | CA361704701 | SLC26A2 | n.535A>C c.303A>C (p.Lys101Asn) | |
5 | g.149977955A>G | CA447401867 | SLC26A2 | n.535A>G c.303A>G (p.Lys101=) | |
5 | g.149977955A>T | CA361704702 | SLC26A2 | n.535A>T c.303A>T (p.Lys101Asn) | |
5 | g.149977956T>A | CA361704703 | SLC26A2 | n.536T>A c.304T>A (p.Tyr102Asn) | |
5 | g.149977956T>C | CA361704704 | SLC26A2 | n.536T>C c.304T>C (p.Tyr102His) | gnomAD v4 |
5 | g.149977956T>G | CA361704705 | SLC26A2 | n.536T>G c.304T>G (p.Tyr102Asp) | |
5 | g.149977957A>C | CA361704706 | SLC26A2 | n.537A>C c.305A>C (p.Tyr102Ser) | |
5 | g.149977957A>G | CA361704708 | SLC26A2 | n.537A>G c.305A>G (p.Tyr102Cys) | |
5 | g.149977957A>T | CA361704707 | SLC26A2 | n.537A>T c.305A>T (p.Tyr102Phe) | |
5 | g.149977958C>A | CA361704709 | SLC26A2 | n.538C>A c.306C>A (p.Tyr102Ter) | |
5 | g.149977958C= | CA1590737349 | SLC26A2 | n.538C= c.306C= (p.Tyr102=) | |
5 | g.149977958C>G | CA361704710 | SLC26A2 | n.538C>G c.306C>G (p.Tyr102Ter) | ClinVar dbSNP |
5 | g.149977958C>T | CA3505233 | SLC26A2 | n.538C>T c.306C>T (p.Tyr102=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.149977959G>A | CA361704711 | SLC26A2 | n.539G>A c.307G>A (p.Asp103Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.149977959G>C | CA361704712 | SLC26A2 | n.539G>C c.307G>C (p.Asp103His) | |
5 | g.149977959G= | CA1590737350 | SLC26A2 | n.539G= c.307G= (p.Asp103=) | |
5 | g.149977959G>T | CA361704713 | SLC26A2 | n.539G>T c.307G>T (p.Asp103Tyr) | gnomAD v4 |
5 | g.149977960A>C | CA361704714 | SLC26A2 | n.540A>C c.308A>C (p.Asp103Ala) | |
5 | g.149977960A>G | CA361704715 | SLC26A2 | n.540A>G c.308A>G (p.Asp103Gly) | |
5 | g.149977960A>T | CA361704716 | SLC26A2 | n.540A>T c.308A>T (p.Asp103Val) | gnomAD v4 |
5 | g.149977961_149977979del | CA2740094131 | SLC26A2 | n.541_559del c.309_327del (p.Asp103GlufsTer4) | ClinVar |
5 | g.149977961C>A | CA361704717 | SLC26A2 | n.541C>A c.309C>A (p.Asp103Glu) | |
5 | g.149977961C>G | CA361704718 | SLC26A2 | n.541C>G c.309C>G (p.Asp103Glu) | |
5 | g.149977961C>T | CA447401868 | SLC26A2 | n.541C>T c.309C>T (p.Asp103=) | COSMIC |
5 | g.149977962C>A | CA361704720 | SLC26A2 | n.542C>A c.310C>A (p.Leu104Ile) | |
5 | g.149977962C= | CA1590737351 | SLC26A2 | n.542C= c.310C= (p.Leu104=) | |
5 | g.149977962C>G | CA361704719 | SLC26A2 | n.542C>G c.310C>G (p.Leu104Val) | |
5 | g.149977962C>T | CA3505234 | SLC26A2 | n.542C>T c.310C>T (p.Leu104=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.149977963T>A | CA361704721 | SLC26A2 | n.543T>A c.311T>A (p.Leu104Gln) | |
5 | g.149977963T>C | CA361704722 | SLC26A2 | n.543T>C c.311T>C (p.Leu104Pro) | |
5 | g.149977963T>G | CA361704723 | SLC26A2 | n.543T>G c.311T>G (p.Leu104Arg) | |
5 | g.149977963_149977964delinsTA | CA1590737352 | SLC26A2 | n.543_544delinsTA c.311_312delinsTA (p.Leu104=) |