Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.149980854A>CCA361707499SLC26A2c.1261A>C (p.Ile421Leu)
c.372+2503A>C (n.372+2503A>C)
5g.149980854A>GCA361707497SLC26A2c.1261A>G (p.Ile421Val)
c.372+2503A>G (n.372+2503A>G)
5g.149980854A>TCA361707498SLC26A2c.1261A>T (p.Ile421Phe)
c.372+2503A>T (n.372+2503A>T)
5g.149980855T>ACA361707500SLC26A2c.1262T>A (p.Ile421Asn)
c.372+2504T>A (n.372+2504T>A)
5g.149980855T>CCA3505412SLC26A2c.1262T>C (p.Ile421Thr)
c.372+2504T>C (n.372+2504T>C)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.149980855T>GCA361707501SLC26A2c.1262T>G (p.Ile421Ser)
c.372+2504T>G (n.372+2504T>G)
5g.149980855T=CA1590738546SLC26A2c.1262T= (p.Ile421=)
c.372+2504T= (n.372+2504T=)
5g.149980856T>ACA447402406SLC26A2c.1263T>A (p.Ile421=)
c.372+2505T>A (n.372+2505T>A)
5g.149980856T>CCA447402407SLC26A2c.1263T>C (p.Ile421=)
c.372+2505T>C (n.372+2505T>C)
5g.149980856T>GCA361707502SLC26A2c.1263T>G (p.Ile421Met)
c.372+2505T>G (n.372+2505T>G)
5g.149980857G>ACA3505413SLC26A2c.1264G>A (p.Gly422Ser)
c.372+2506G>A (n.372+2506G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.149980857G>CCA361707503SLC26A2c.1264G>C (p.Gly422Arg)
c.372+2506G>C (n.372+2506G>C)
dbSNP
5g.149980857G=CA1590738547SLC26A2c.1264G= (p.Gly422=)
c.372+2506G= (n.372+2506G=)
5g.149980857G>TCA361707504SLC26A2c.1264G>T (p.Gly422Cys)
c.372+2506G>T (n.372+2506G>T)
5g.149980858G>ACA361707505SLC26A2c.1265G>A (p.Gly422Asp)
c.372+2507G>A (n.372+2507G>A)
dbSNP gnomAD v2 gnomAD v4
5g.149980858G>CCA361707506SLC26A2c.1265G>C (p.Gly422Ala)
c.372+2507G>C (n.372+2507G>C)
ClinVar dbSNP gnomAD v4
5g.149980858G=CA1590738548SLC26A2c.1265G= (p.Gly422=)
c.372+2507G= (n.372+2507G=)
5g.149980858G>TCA361707507SLC26A2c.1265G>T (p.Gly422Val)
c.372+2507G>T (n.372+2507G>T)
5g.149980859C>ACA447402410SLC26A2c.1266C>A (p.Gly422=)
c.372+2508C>A (n.372+2508C>A)
5g.149980859C>GCA447402411SLC26A2c.1266C>G (p.Gly422=)
c.372+2508C>G (n.372+2508C>G)
5g.149980859C>TCA447402412SLC26A2c.1266C>T (p.Gly422=)
c.372+2508C>T (n.372+2508C>T)
5g.149980860T>ACA361707510SLC26A2c.1267T>A (p.Phe423Ile)
c.372+2509T>A (n.372+2509T>A)
5g.149980860T>CCA361707509SLC26A2c.1267T>C (p.Phe423Leu)
c.372+2509T>C (n.372+2509T>C)
5g.149980860T>GCA361707508SLC26A2c.1267T>G (p.Phe423Val)
c.372+2509T>G (n.372+2509T>G)
5g.149980861T>ACA361707511SLC26A2c.1268T>A (p.Phe423Tyr)
c.372+2510T>A (n.372+2510T>A)
5g.149980861T>CCA361707512SLC26A2c.1268T>C (p.Phe423Ser)
c.372+2510T>C (n.372+2510T>C)
5g.149980861T>GCA361707513SLC26A2c.1268T>G (p.Phe423Cys)
c.372+2510T>G (n.372+2510T>G)
dbSNP
5g.149980861T=CA1590738549SLC26A2c.1268T= (p.Phe423=)
c.372+2510T= (n.372+2510T=)
5g.149980862T>ACA361707514SLC26A2c.1269T>A (p.Phe423Leu)
c.372+2511T>A (n.372+2511T>A)
5g.149980862T>CCA447402416SLC26A2c.1269T>C (p.Phe423=)
c.372+2511T>C (n.372+2511T>C)
ClinVar gnomAD v4
5g.149980862T>GCA361707515SLC26A2c.1269T>G (p.Phe423Leu)
c.372+2511T>G (n.372+2511T>G)
5g.149980863T>ACA361707516SLC26A2c.1270T>A (p.Cys424Ser)
c.372+2512T>A (n.372+2512T>A)
5g.149980863T>CCA361707517SLC26A2c.1270T>C (p.Cys424Arg)
c.372+2512T>C (n.372+2512T>C)
dbSNP
5g.149980863T>GCA361707518SLC26A2c.1270T>G (p.Cys424Gly)
c.372+2512T>G (n.372+2512T>G)
5g.149980863T=CA1590738550SLC26A2c.1270T= (p.Cys424=)
c.372+2512T= (n.372+2512T=)
5g.149980864G>ACA361707519SLC26A2c.1271G>A (p.Cys424Tyr)
c.372+2513G>A (n.372+2513G>A)
5g.149980864G>CCA361707520SLC26A2c.1271G>C (p.Cys424Ser)
c.372+2513G>C (n.372+2513G>C)
5g.149980864G>TCA361707521SLC26A2c.1271G>T (p.Cys424Phe)
c.372+2513G>T (n.372+2513G>T)
5g.149980865T>ACA361707522SLC26A2c.1272T>A (p.Cys424Ter)
c.372+2514T>A (n.372+2514T>A)
5g.149980865T>CCA447402419SLC26A2c.1272T>C (p.Cys424=)
c.372+2514T>C (n.372+2514T>C)
5g.149980865T>GCA361707523SLC26A2c.1272T>G (p.Cys424Trp)
c.372+2514T>G (n.372+2514T>G)
5g.149980865dupCA2573139277SLC26A2c.1272dup (p.Asn425Ter)
c.372+2514dup (n.372+2514dup)
ClinVar dbSNP
5g.149980866A=CA1590738551SLC26A2c.1273A= (p.Asn425=)
c.372+2515A= (n.372+2515A=)
5g.149980866A>CCA361707524SLC26A2c.1273A>C (p.Asn425His)
c.372+2515A>C (n.372+2515A>C)
5g.149980866A>GCA259842SLC26A2c.1273A>G (p.Asn425Asp)
c.372+2515A>G (n.372+2515A>G)
ClinVar dbSNP gnomAD v4
5g.149980866A>TCA361707525SLC26A2c.1273A>T (p.Asn425Tyr)
c.372+2515A>T (n.372+2515A>T)
5g.149980867A>CCA361707526SLC26A2c.1274A>C (p.Asn425Thr)
c.372+2516A>C (n.372+2516A>C)
5g.149980867A>GCA361707527SLC26A2c.1274A>G (p.Asn425Ser)
c.372+2516A>G (n.372+2516A>G)
5g.149980867A>TCA361707528SLC26A2c.1274A>T (p.Asn425Ile)
c.372+2516A>T (n.372+2516A>T)
5g.149980867_149980868insAACAGTGGAAGAAGGAAGGGATGACA1590738552SLC26A2c.1274_1275insAACAGTGGAAGAAGGAAGGGATGA (p.Asn425delinsLysThrValGluGluGlyArgAspAsp)
c.372+2516_372+2517insAACAGTGGAAGAAGGAAGGGATGA (n.372+2516_372+2517insAACAGTGGAAGAAGGAAGGGATGA)
dbSNP

Number of alleles fetched