Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.149980613_149980615dup | CA917608031 | SLC26A2 | c.1020_1022dup (p.Val341_Ala342insVal) c.372+2262_372+2264dup (n.372+2262_372+2264dup) | ClinVar dbSNP gnomAD v4 |
5 | g.149980613_149980615del | CA259846 | SLC26A2 | c.1020_1022del (p.Val341del) c.372+2262_372+2264del (n.372+2262_372+2264del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.149980610_149980615del | CA3505368 | SLC26A2 | c.1017_1022del (p.Val340_Val341del) c.372+2259_372+2264del (n.372+2259_372+2264del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.149980610T>A | CA447402231 | SLC26A2 | c.1017T>A (p.Val339=) c.372+2259T>A (n.372+2259T>A) | |
5 | g.149980610T>C | CA3505373 | SLC26A2 | c.1017T>C (p.Val339=) c.372+2259T>C (n.372+2259T>C) | ClinVar dbSNP ExAC gnomAD v4 |
5 | g.149980610T>G | CA447402232 | SLC26A2 | c.1017T>G (p.Val339=) c.372+2259T>G (n.372+2259T>G) | |
5 | g.149980610T= | CA1590738444 | SLC26A2 | c.1017T= (p.Val339=) c.372+2259T= (n.372+2259T=) | |
5 | g.149980611G>A | CA361706973 | SLC26A2 | c.1018G>A (p.Val340Ile) c.372+2260G>A (n.372+2260G>A) | dbSNP gnomAD v4 |
5 | g.149980611G>C | CA361706974 | SLC26A2 | c.1018G>C (p.Val340Leu) c.372+2260G>C (n.372+2260G>C) | |
5 | g.149980611G= | CA1590738445 | SLC26A2 | c.1018G= (p.Val340=) c.372+2260G= (n.372+2260G=) | |
5 | g.149980611G>T | CA361706975 | SLC26A2 | c.1018G>T (p.Val340Phe) c.372+2260G>T (n.372+2260G>T) | |
5 | g.149980612T>A | CA361706976 | SLC26A2 | c.1019T>A (p.Val340Asp) c.372+2261T>A (n.372+2261T>A) | |
5 | g.149980612T>C | CA361706977 | SLC26A2 | c.1019T>C (p.Val340Ala) c.372+2261T>C (n.372+2261T>C) | dbSNP |
5 | g.149980612T>G | CA361706978 | SLC26A2 | c.1019T>G (p.Val340Gly) c.372+2261T>G (n.372+2261T>G) | dbSNP |
5 | g.149980612T= | CA1590738446 | SLC26A2 | c.1019T= (p.Val340=) c.372+2261T= (n.372+2261T=) | |
5 | g.149980613T>A | CA447402234 | SLC26A2 | c.1020T>A (p.Val340=) c.372+2262T>A (n.372+2262T>A) | gnomAD v4 |
5 | g.149980613T>C | CA447402236 | SLC26A2 | c.1020T>C (p.Val340=) c.372+2262T>C (n.372+2262T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.149980613T>G | CA447402237 | SLC26A2 | c.1020T>G (p.Val340=) c.372+2262T>G (n.372+2262T>G) | |
5 | g.149980613T= | CA1590738447 | SLC26A2 | c.1020T= (p.Val340=) c.372+2262T= (n.372+2262T=) | |
5 | g.149980614G>A | CA361706980 | SLC26A2 | c.1021G>A (p.Val341Ile) c.372+2263G>A (n.372+2263G>A) | |
5 | g.149980614G>C | CA361706979 | SLC26A2 | c.1021G>C (p.Val341Leu) c.372+2263G>C (n.372+2263G>C) | |
5 | g.149980614G= | CA1590738448 | SLC26A2 | c.1021G= (p.Val341=) c.372+2263G= (n.372+2263G=) | |
5 | g.149980614G>T | CA3505374 | SLC26A2 | c.1021G>T (p.Val341Leu) c.372+2263G>T (n.372+2263G>T) | dbSNP ExAC gnomAD v4 |
5 | g.149980615T>A | CA361706981 | SLC26A2 | c.1022T>A (p.Val341Glu) c.372+2264T>A (n.372+2264T>A) | |
5 | g.149980615T>C | CA3505375 | SLC26A2 | c.1022T>C (p.Val341Ala) c.372+2264T>C (n.372+2264T>C) | dbSNP ExAC |
5 | g.149980615T>G | CA361706982 | SLC26A2 | c.1022T>G (p.Val341Gly) c.372+2264T>G (n.372+2264T>G) | |
5 | g.149980615T= | CA1590738449 | SLC26A2 | c.1022T= (p.Val341=) c.372+2264T= (n.372+2264T=) | |
5 | g.149980615dup | CA913108448 | SLC26A2 | c.1022dup (p.Ala342SerfsTer13) c.372+2264dup (n.372+2264dup) | |
5 | g.149980616A= | CA1590738450 | SLC26A2 | c.1023A= (p.Val341=) c.372+2265A= (n.372+2265A=) | |
5 | g.149980616A>C | CA447402239 | SLC26A2 | c.1023A>C (p.Val341=) c.372+2265A>C (n.372+2265A>C) | |
5 | g.149980616A>G | CA3505376 | SLC26A2 | c.1023A>G (p.Val341=) c.372+2265A>G (n.372+2265A>G) | ClinVar dbSNP ExAC |
5 | g.149980616A>T | CA447402240 | SLC26A2 | c.1023A>T (p.Val341=) c.372+2265A>T (n.372+2265A>T) | |
5 | g.149980619_149980621dup | CA658822218 | SLC26A2 | c.1026_1028dup (p.Ala343_Thr344insAla) c.372+2268_372+2270dup (n.372+2268_372+2270dup) | ClinVar dbSNP |
5 | g.149980617G>A | CA361706983 | SLC26A2 | c.1024G>A (p.Ala342Thr) c.372+2266G>A (n.372+2266G>A) | |
5 | g.149980617G>C | CA3505377 | SLC26A2 | c.1024G>C (p.Ala342Pro) c.372+2266G>C (n.372+2266G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
5 | g.149980617G= | CA1590738451 | SLC26A2 | c.1024G= (p.Ala342=) c.372+2266G= (n.372+2266G=) | |
5 | g.149980617G>T | CA361706984 | SLC26A2 | c.1024G>T (p.Ala342Ser) c.372+2266G>T (n.372+2266G>T) | |
5 | g.149980618C>A | CA361706985 | SLC26A2 | c.1025C>A (p.Ala342Glu) c.372+2267C>A (n.372+2267C>A) | |
5 | g.149980618C= | CA1590738453 | SLC26A2 | c.1025C= (p.Ala342=) c.372+2267C= (n.372+2267C=) | |
5 | g.149980618C>G | CA361706986 | SLC26A2 | c.1025C>G (p.Ala342Gly) c.372+2267C>G (n.372+2267C>G) | gnomAD v4 |
5 | g.149980618C>T | CA361706987 | SLC26A2 | c.1025C>T (p.Ala342Val) c.372+2267C>T (n.372+2267C>T) | dbSNP |
5 | g.149980618dup | CA1590738452 | SLC26A2 | c.1025dup (p.Ala343SerfsTer12) c.372+2267dup (n.372+2267dup) | dbSNP |
5 | g.149980619A>C | CA447402247 | SLC26A2 | c.1026A>C (p.Ala342=) c.372+2268A>C (n.372+2268A>C) | |
5 | g.149980619A>G | CA447402246 | SLC26A2 | c.1026A>G (p.Ala342=) c.372+2268A>G (n.372+2268A>G) | |
5 | g.149980619A>T | CA447402245 | SLC26A2 | c.1026A>T (p.Ala342=) c.372+2268A>T (n.372+2268A>T) | |
5 | g.149980620G>A | CA129084067 | SLC26A2 | c.1027G>A (p.Ala343Thr) c.372+2269G>A (n.372+2269G>A) | dbSNP |
5 | g.149980620G>C | CA361706988 | SLC26A2 | c.1027G>C (p.Ala343Pro) c.372+2269G>C (n.372+2269G>C) | |
5 | g.149980620G= | CA1590738454 | SLC26A2 | c.1027G= (p.Ala343=) c.372+2269G= (n.372+2269G=) | |
5 | g.149980620G>T | CA361706989 | SLC26A2 | c.1027G>T (p.Ala343Ser) c.372+2269G>T (n.372+2269G>T) | |
5 | g.149980621C>A | CA361706992 | SLC26A2 | c.1028C>A (p.Ala343Asp) c.372+2270C>A (n.372+2270C>A) |