| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.149980581A>C | CA361706715 | SLC26A2 | c.988A>C (p.Lys330Gln) c.372+2230A>C (n.372+2230A>C) | |
| 5 | g.149980581A>G | CA361706716 | SLC26A2 | c.988A>G (p.Lys330Glu) c.372+2230A>G (n.372+2230A>G) | |
| 5 | g.149980581A>T | CA361706717 | SLC26A2 | c.988A>T (p.Lys330Ter) c.372+2230A>T (n.372+2230A>T) | |
| 5 | g.149980582A>C | CA361706718 | SLC26A2 | c.989A>C (p.Lys330Thr) c.372+2231A>C (n.372+2231A>C) | |
| 5 | g.149980582A>G | CA361706720 | SLC26A2 | c.989A>G (p.Lys330Arg) c.372+2231A>G (n.372+2231A>G) | |
| 5 | g.149980582A>T | CA361706719 | SLC26A2 | c.989A>T (p.Lys330Met) c.372+2231A>T (n.372+2231A>T) | |
| 5 | g.149980582_149980585delinsAGGC | CA1590738430 | SLC26A2 | c.989_992delinsAGGC (p.Lys330=) c.372+2231_372+2234delinsAGGC (n.372+2231_372+2234delinsAGGC) | |
| 5 | g.149980583G>A | CA447402375 | SLC26A2 | c.990G>A (p.Lys330=) c.372+2232G>A (n.372+2232G>A) | |
| 5 | g.149980583G>C | CA361706721 | SLC26A2 | c.990G>C (p.Lys330Asn) c.372+2232G>C (n.372+2232G>C) | |
| 5 | g.149980583G>T | CA361706722 | SLC26A2 | c.990G>T (p.Lys330Asn) c.372+2232G>T (n.372+2232G>T) | |
| 5 | g.149980583_149980585del | CA563955703 | SLC26A2 | c.990_992del (p.Ala331del) c.372+2232_372+2234del (n.372+2232_372+2234del) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149980584G>A | CA361706723 | SLC26A2 | c.991G>A (p.Ala331Thr) c.372+2233G>A (n.372+2233G>A) | |
| 5 | g.149980584G>C | CA361706724 | SLC26A2 | c.991G>C (p.Ala331Pro) c.372+2233G>C (n.372+2233G>C) | |
| 5 | g.149980584G>T | CA361706725 | SLC26A2 | c.991G>T (p.Ala331Ser) c.372+2233G>T (n.372+2233G>T) | |
| 5 | g.149980585C>A | CA361706726 | SLC26A2 | c.992C>A (p.Ala331Glu) c.372+2234C>A (n.372+2234C>A) | |
| 5 | g.149980585C>G | CA361706727 | SLC26A2 | c.992C>G (p.Ala331Gly) c.372+2234C>G (n.372+2234C>G) | |
| 5 | g.149980585C>T | CA361706728 | SLC26A2 | c.992C>T (p.Ala331Val) c.372+2234C>T (n.372+2234C>T) | |
| 5 | g.149980586A= | CA1590738431 | SLC26A2 | c.993A= (p.Ala331=) c.372+2235A= (n.372+2235A=) | |
| 5 | g.149980586A>C | CA3505363 | SLC26A2 | c.993A>C (p.Ala331=) c.372+2235A>C (n.372+2235A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149980586A>G | CA447402379 | SLC26A2 | c.993A>G (p.Ala331=) c.372+2235A>G (n.372+2235A>G) | gnomAD v4 |
| 5 | g.149980586A>T | CA447402380 | SLC26A2 | c.993A>T (p.Ala331=) c.372+2235A>T (n.372+2235A>T) | |
| 5 | g.149980587C>A | CA361706729 | SLC26A2 | c.994C>A (p.Pro332Thr) c.372+2236C>A (n.372+2236C>A) | |
| 5 | g.149980587C>G | CA361706730 | SLC26A2 | c.994C>G (p.Pro332Ala) c.372+2236C>G (n.372+2236C>G) | |
| 5 | g.149980587C>T | CA361706731 | SLC26A2 | c.994C>T (p.Pro332Ser) c.372+2236C>T (n.372+2236C>T) | |
| 5 | g.149980588C>A | CA361706732 | SLC26A2 | c.995C>A (p.Pro332Gln) c.372+2237C>A (n.372+2237C>A) | |
| 5 | g.149980588C= | CA1590738432 | SLC26A2 | c.995C= (p.Pro332=) c.372+2237C= (n.372+2237C=) | |
| 5 | g.149980588C>G | CA361706733 | SLC26A2 | c.995C>G (p.Pro332Arg) c.372+2237C>G (n.372+2237C>G) | |
| 5 | g.149980588C>T | CA3505364 | SLC26A2 | c.995C>T (p.Pro332Leu) c.372+2237C>T (n.372+2237C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149980589G>A | CA3505365 | SLC26A2 | c.996G>A (p.Pro332=) c.372+2238G>A (n.372+2238G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.149980589G>C | CA447402384 | SLC26A2 | c.996G>C (p.Pro332=) c.372+2238G>C (n.372+2238G>C) | |
| 5 | g.149980589G= | CA1590738433 | SLC26A2 | c.996G= (p.Pro332=) c.372+2238G= (n.372+2238G=) | |
| 5 | g.149980589G>T | CA447402383 | SLC26A2 | c.996G>T (p.Pro332=) c.372+2238G>T (n.372+2238G>T) | |
| 5 | g.149980590A>C | CA361706734 | SLC26A2 | c.997A>C (p.Ile333Leu) c.372+2239A>C (n.372+2239A>C) | |
| 5 | g.149980590A>G | CA361706735 | SLC26A2 | c.997A>G (p.Ile333Val) c.372+2239A>G (n.372+2239A>G) | |
| 5 | g.149980590A>T | CA361706736 | SLC26A2 | c.997A>T (p.Ile333Phe) c.372+2239A>T (n.372+2239A>T) | |
| 5 | g.149980591T>A | CA361706737 | SLC26A2 | c.998T>A (p.Ile333Asn) c.372+2240T>A (n.372+2240T>A) | |
| 5 | g.149980591T>C | CA3505366 | SLC26A2 | c.998T>C (p.Ile333Thr) c.372+2240T>C (n.372+2240T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149980591T>G | CA361706738 | SLC26A2 | c.998T>G (p.Ile333Ser) c.372+2240T>G (n.372+2240T>G) | |
| 5 | g.149980591T= | CA1590738434 | SLC26A2 | c.998T= (p.Ile333=) c.372+2240T= (n.372+2240T=) | |
| 5 | g.149980592T>A | CA447402186 | SLC26A2 | c.999T>A (p.Ile333=) c.372+2241T>A (n.372+2241T>A) | gnomAD v4 |
| 5 | g.149980592T>C | CA129084000 | SLC26A2 | c.999T>C (p.Ile333=) c.372+2241T>C (n.372+2241T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149980592T>G | CA361706938 | SLC26A2 | c.999T>G (p.Ile333Met) c.372+2241T>G (n.372+2241T>G) | |
| 5 | g.149980592T= | CA1590738435 | SLC26A2 | c.999T= (p.Ile333=) c.372+2241T= (n.372+2241T=) | |
| 5 | g.149980593C>A | CA361706939 | SLC26A2 | c.1000C>A (p.Pro334Thr) c.372+2242C>A (n.372+2242C>A) | |
| 5 | g.149980593C>G | CA361706940 | SLC26A2 | c.1000C>G (p.Pro334Ala) c.372+2242C>G (n.372+2242C>G) | |
| 5 | g.149980593C>T | CA361706941 | SLC26A2 | c.1000C>T (p.Pro334Ser) c.372+2242C>T (n.372+2242C>T) | COSMIC |
| 5 | g.149980594C>A | CA361706944 | SLC26A2 | c.1001C>A (p.Pro334His) c.372+2243C>A (n.372+2243C>A) | |
| 5 | g.149980594C>G | CA361706943 | SLC26A2 | c.1001C>G (p.Pro334Arg) c.372+2243C>G (n.372+2243C>G) | |
| 5 | g.149980594C>T | CA361706942 | SLC26A2 | c.1001C>T (p.Pro334Leu) c.372+2243C>T (n.372+2243C>T) | gnomAD v4 |
| 5 | g.149980595T>A | CA447402188 | SLC26A2 | c.1002T>A (p.Pro334=) c.372+2244T>A (n.372+2244T>A) | |
| 5 | g.149980595T>C | CA447402191 | SLC26A2 | c.1002T>C (p.Pro334=) c.372+2244T>C (n.372+2244T>C) | COSMIC |
| 5 | g.149980595T>G | CA447402190 | SLC26A2 | c.1002T>G (p.Pro334=) c.372+2244T>G (n.372+2244T>G) | |
| 5 | g.149980596A= | CA1590738436 | SLC26A2 | c.1003A= (p.Ile335=) c.372+2245A= (n.372+2245A=) | |
| 5 | g.149980596A>C | CA361706945 | SLC26A2 | c.1003A>C (p.Ile335Leu) c.372+2245A>C (n.372+2245A>C) | |
| 5 | g.149980596A>G | CA3505367 | SLC26A2 | c.1003A>G (p.Ile335Val) c.372+2245A>G (n.372+2245A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149980596A>T | CA361706946 | SLC26A2 | c.1003A>T (p.Ile335Phe) c.372+2245A>T (n.372+2245A>T) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149980597T>A | CA361706947 | SLC26A2 | c.1004T>A (p.Ile335Asn) c.372+2246T>A (n.372+2246T>A) | |
| 5 | g.149980597T>C | CA361706948 | SLC26A2 | c.1004T>C (p.Ile335Thr) c.372+2246T>C (n.372+2246T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149980597T>G | CA361706949 | SLC26A2 | c.1004T>G (p.Ile335Ser) c.372+2246T>G (n.372+2246T>G) | |
| 5 | g.149980597T= | CA1590738437 | SLC26A2 | c.1004T= (p.Ile335=) c.372+2246T= (n.372+2246T=) | |
| 5 | g.149980598T>A | CA447402197 | SLC26A2 | c.1005T>A (p.Ile335=) c.372+2247T>A (n.372+2247T>A) | |
| 5 | g.149980598T>C | CA447402198 | SLC26A2 | c.1005T>C (p.Ile335=) c.372+2247T>C (n.372+2247T>C) | |
| 5 | g.149980598T>G | CA361706950 | SLC26A2 | c.1005T>G (p.Ile335Met) c.372+2247T>G (n.372+2247T>G) | |
| 5 | g.149980599G>A | CA361706951 | SLC26A2 | c.1006G>A (p.Glu336Lys) c.372+2248G>A (n.372+2248G>A) | |
| 5 | g.149980599G>C | CA361706952 | SLC26A2 | c.1006G>C (p.Glu336Gln) c.372+2248G>C (n.372+2248G>C) | |
| 5 | g.149980599G>T | CA361706953 | SLC26A2 | c.1006G>T (p.Glu336Ter) c.372+2248G>T (n.372+2248G>T) | |
| 5 | g.149980600A>C | CA361706954 | SLC26A2 | c.1007A>C (p.Glu336Ala) c.372+2249A>C (n.372+2249A>C) | |
| 5 | g.149980600A>G | CA361706955 | SLC26A2 | c.1007A>G (p.Glu336Gly) c.372+2249A>G (n.372+2249A>G) | gnomAD v4 |
| 5 | g.149980600A>T | CA361706956 | SLC26A2 | c.1007A>T (p.Glu336Val) c.372+2249A>T (n.372+2249A>T) | |
| 5 | g.149980601A>C | CA361706957 | SLC26A2 | c.1008A>C (p.Glu336Asp) c.372+2250A>C (n.372+2250A>C) | |
| 5 | g.149980601A>G | CA447402210 | SLC26A2 | c.1008A>G (p.Glu336=) c.372+2250A>G (n.372+2250A>G) | |
| 5 | g.149980601A>T | CA361706958 | SLC26A2 | c.1008A>T (p.Glu336Asp) c.372+2250A>T (n.372+2250A>T) | |
| 5 | g.149980602C>A | CA361706959 | SLC26A2 | c.1009C>A (p.Leu337Ile) c.372+2251C>A (n.372+2251C>A) | |
| 5 | g.149980602C= | CA1590738439 | SLC26A2 | c.1009C= (p.Leu337=) c.372+2251C= (n.372+2251C=) | |
| 5 | g.149980602C>G | CA361706960 | SLC26A2 | c.1009C>G (p.Leu337Val) c.372+2251C>G (n.372+2251C>G) | |
| 5 | g.149980602C>T | CA3505369 | SLC26A2 | c.1009C>T (p.Leu337Phe) c.372+2251C>T (n.372+2251C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149980602_149980608delinsCTTGTTG | CA1590738438 | SLC26A2 | c.1009_1015delinsCTTGTTG (p.Leu337=) c.372+2251_372+2257delinsCTTGTTG (n.372+2251_372+2257delinsCTTGTTG) | |
| 5 | g.149980603T>A | CA361706961 | SLC26A2 | c.1010T>A (p.Leu337His) c.372+2252T>A (n.372+2252T>A) | |
| 5 | g.149980603T>C | CA361706962 | SLC26A2 | c.1010T>C (p.Leu337Pro) c.372+2252T>C (n.372+2252T>C) | dbSNP |
| 5 | g.149980603T>G | CA361706963 | SLC26A2 | c.1010T>G (p.Leu337Arg) c.372+2252T>G (n.372+2252T>G) | |
| 5 | g.149980603T= | CA1590738440 | SLC26A2 | c.1010T= (p.Leu337=) c.372+2252T= (n.372+2252T=) | |
| 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.149980604T>A | CA447402217 | SLC26A2 | c.1011T>A (p.Leu337=) c.372+2253T>A (n.372+2253T>A) | |
| 5 | g.149980604T>C | CA447402218 | SLC26A2 | c.1011T>C (p.Leu337=) c.372+2253T>C (n.372+2253T>C) | |
| 5 | g.149980604T>G | CA447402219 | SLC26A2 | c.1011T>G (p.Leu337=) c.372+2253T>G (n.372+2253T>G) | ClinVar dbSNP |
| 5 | g.149980604T= | CA1590738441 | SLC26A2 | c.1011T= (p.Leu337=) c.372+2253T= (n.372+2253T=) | |
| 5 | g.149980605G>A | CA361706964 | SLC26A2 | c.1012G>A (p.Val338Ile) c.372+2254G>A (n.372+2254G>A) | gnomAD v4 |
| 5 | g.149980605G>C | CA361706965 | SLC26A2 | c.1012G>C (p.Val338Leu) c.372+2254G>C (n.372+2254G>C) | gnomAD v4 |
| 5 | g.149980605G>T | CA361706966 | SLC26A2 | c.1012G>T (p.Val338Phe) c.372+2254G>T (n.372+2254G>T) | |
| 5 | g.149980606T>A | CA361706967 | SLC26A2 | c.1013T>A (p.Val338Asp) c.372+2255T>A (n.372+2255T>A) | |
| 5 | g.149980606T>C | CA361706968 | SLC26A2 | c.1013T>C (p.Val338Ala) c.372+2255T>C (n.372+2255T>C) | |
| 5 | g.149980606T>G | CA361706969 | SLC26A2 | c.1013T>G (p.Val338Gly) c.372+2255T>G (n.372+2255T>G) | |
| 5 | g.149980607T>A | CA447402223 | SLC26A2 | c.1014T>A (p.Val338=) c.372+2256T>A (n.372+2256T>A) | |
| 5 | g.149980607T>C | CA447402224 | SLC26A2 | c.1014T>C (p.Val338=) c.372+2256T>C (n.372+2256T>C) | |
| 5 | g.149980607T>G | CA447402225 | SLC26A2 | c.1014T>G (p.Val338=) c.372+2256T>G (n.372+2256T>G) | |
| 5 | g.149980608G>A | CA361706971 | SLC26A2 | c.1015G>A (p.Val339Ile) c.372+2257G>A (n.372+2257G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149980608G>C | CA361706970 | SLC26A2 | c.1015G>C (p.Val339Leu) c.372+2257G>C (n.372+2257G>C) | |
| 5 | g.149980608G= | CA1590738442 | SLC26A2 | c.1015G= (p.Val339=) c.372+2257G= (n.372+2257G=) | |
| 5 | g.149980608G>T | CA3505370 | SLC26A2 | c.1015G>T (p.Val339Phe) c.372+2257G>T (n.372+2257G>T) | dbSNP ExAC |
| 5 | g.149980609T>A | CA361706972 | SLC26A2 | c.1016T>A (p.Val339Asp) c.372+2258T>A (n.372+2258T>A) | |
| 5 | g.149980609T>C | CA3505372 | SLC26A2 | c.1016T>C (p.Val339Ala) c.372+2258T>C (n.372+2258T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149980609T>G | CA3505371 | SLC26A2 | c.1016T>G (p.Val339Gly) c.372+2258T>G (n.372+2258T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149980609T= | CA1590738443 | SLC26A2 | c.1016T= (p.Val339=) c.372+2258T= (n.372+2258T=) | |
| 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) | |
| 5 | g.149980621C= | CA1590738455 | SLC26A2 | c.1028C= (p.Ala343=) c.372+2270C= (n.372+2270C=) | |
| 5 | g.149980621C>G | CA361706990 | SLC26A2 | c.1028C>G (p.Ala343Gly) c.372+2270C>G (n.372+2270C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149980621C>T | CA361706991 | SLC26A2 | c.1028C>T (p.Ala343Val) c.372+2270C>T (n.372+2270C>T) | |
| 5 | g.149980622C>A | CA447402249 | SLC26A2 | c.1029C>A (p.Ala343=) c.372+2271C>A (n.372+2271C>A) | |
| 5 | g.149980622C= | CA1590738456 | SLC26A2 | c.1029C= (p.Ala343=) c.372+2271C= (n.372+2271C=) | |
| 5 | g.149980622C>G | CA447402250 | SLC26A2 | c.1029C>G (p.Ala343=) c.372+2271C>G (n.372+2271C>G) | |
| 5 | g.149980622C>T | CA447402251 | SLC26A2 | c.1029C>T (p.Ala343=) c.372+2271C>T (n.372+2271C>T) | dbSNP gnomAD v4 |
| 5 | g.149980623A>C | CA361706993 | SLC26A2 | c.1030A>C (p.Thr344Pro) c.372+2272A>C (n.372+2272A>C) | |
| 5 | g.149980623A>G | CA361706994 | SLC26A2 | c.1030A>G (p.Thr344Ala) c.372+2272A>G (n.372+2272A>G) | |
| 5 | g.149980623A>T | CA361706995 | SLC26A2 | c.1030A>T (p.Thr344Ser) c.372+2272A>T (n.372+2272A>T) | |
| 5 | g.149980624C>A | CA361706996 | SLC26A2 | c.1031C>A (p.Thr344Lys) c.372+2273C>A (n.372+2273C>A) | |
| 5 | g.149980624C= | CA1590738457 | SLC26A2 | c.1031C= (p.Thr344=) c.372+2273C= (n.372+2273C=) | |
| 5 | g.149980624C>G | CA361706997 | SLC26A2 | c.1031C>G (p.Thr344Arg) c.372+2273C>G (n.372+2273C>G) | |
| 5 | g.149980624C>T | CA361706998 | SLC26A2 | c.1031C>T (p.Thr344Ile) c.372+2273C>T (n.372+2273C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149980625A= | CA1590738458 | SLC26A2 | c.1032A= (p.Thr344=) c.372+2274A= (n.372+2274A=) | |
| 5 | g.149980625A>C | CA447402253 | SLC26A2 | c.1032A>C (p.Thr344=) c.372+2274A>C (n.372+2274A>C) | |
| 5 | g.149980625A>G | CA447402254 | SLC26A2 | c.1032A>G (p.Thr344=) c.372+2274A>G (n.372+2274A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149980625A>T | CA447402255 | SLC26A2 | c.1032A>T (p.Thr344=) c.372+2274A>T (n.372+2274A>T) | |
| 5 | g.149980626T>A | CA361706999 | SLC26A2 | c.1033T>A (p.Leu345Ile) c.372+2275T>A (n.372+2275T>A) | |
| 5 | g.149980626T>C | CA447402256 | SLC26A2 | c.1033T>C (p.Leu345=) c.372+2275T>C (n.372+2275T>C) | |
| 5 | g.149980626T>G | CA361707000 | SLC26A2 | c.1033T>G (p.Leu345Val) c.372+2275T>G (n.372+2275T>G) | |
| 5 | g.149980627T>A | CA361707001 | SLC26A2 | c.1034T>A (p.Leu345Ter) c.372+2276T>A (n.372+2276T>A) | ClinVar |
| 5 | g.149980627T>C | CA361707002 | SLC26A2 | c.1034T>C (p.Leu345Ser) c.372+2276T>C (n.372+2276T>C) | |
| 5 | g.149980627T>G | CA361707003 | SLC26A2 | c.1034T>G (p.Leu345Ter) c.372+2276T>G (n.372+2276T>G) | dbSNP |
| 5 | g.149980627T= | CA1590738459 | SLC26A2 | c.1034T= (p.Leu345=) c.372+2276T= (n.372+2276T=) | |
| 5 | g.149980628A>C | CA361707004 | SLC26A2 | c.1035A>C (p.Leu345Phe) c.372+2277A>C (n.372+2277A>C) | |
| 5 | g.149980628A>G | CA447402259 | SLC26A2 | c.1035A>G (p.Leu345=) c.372+2277A>G (n.372+2277A>G) | |
| 5 | g.149980628A>T | CA361707005 | SLC26A2 | c.1035A>T (p.Leu345Phe) c.372+2277A>T (n.372+2277A>T) | |
| 5 | g.149980629G>A | CA361707008 | SLC26A2 | c.1036G>A (p.Ala346Thr) c.372+2278G>A (n.372+2278G>A) | |
| 5 | g.149980629G>C | CA361707007 | SLC26A2 | c.1036G>C (p.Ala346Pro) c.372+2278G>C (n.372+2278G>C) | |
| 5 | g.149980629G>T | CA361707006 | SLC26A2 | c.1036G>T (p.Ala346Ser) c.372+2278G>T (n.372+2278G>T) | |
| 5 | g.149980630C>A | CA361707010 | SLC26A2 | c.1037C>A (p.Ala346Asp) c.372+2279C>A (n.372+2279C>A) | |
| 5 | g.149980630C>G | CA361707009 | SLC26A2 | c.1037C>G (p.Ala346Gly) c.372+2279C>G (n.372+2279C>G) | |
| 5 | g.149980630C>T | CA361707011 | SLC26A2 | c.1037C>T (p.Ala346Val) c.372+2279C>T (n.372+2279C>T) | |
| 5 | g.149980631C>A | CA447402261 | SLC26A2 | c.1038C>A (p.Ala346=) c.372+2280C>A (n.372+2280C>A) | |
| 5 | g.149980631C= | CA1590738460 | SLC26A2 | c.1038C= (p.Ala346=) c.372+2280C= (n.372+2280C=) | |
| 5 | g.149980631C>G | CA447402262 | SLC26A2 | c.1038C>G (p.Ala346=) c.372+2280C>G (n.372+2280C>G) | gnomAD v4 |
| 5 | g.149980631C>T | CA447402263 | SLC26A2 | c.1038C>T (p.Ala346=) c.372+2280C>T (n.372+2280C>T) | ClinVar dbSNP |
| 5 | g.149980632T>A | CA361707012 | SLC26A2 | c.1039T>A (p.Ser347Thr) c.372+2281T>A (n.372+2281T>A) | |
| 5 | g.149980632T>C | CA361707014 | SLC26A2 | c.1039T>C (p.Ser347Pro) c.372+2281T>C (n.372+2281T>C) | gnomAD v4 |
| 5 | g.149980632T>G | CA361707013 | SLC26A2 | c.1039T>G (p.Ser347Ala) c.372+2281T>G (n.372+2281T>G) | COSMIC |
| 5 | g.149980633C>A | CA361707015 | SLC26A2 | c.1040C>A (p.Ser347Tyr) c.372+2282C>A (n.372+2282C>A) | |
| 5 | g.149980633C>G | CA361707016 | SLC26A2 | c.1040C>G (p.Ser347Cys) c.372+2282C>G (n.372+2282C>G) | |
| 5 | g.149980633C>T | CA361707017 | SLC26A2 | c.1040C>T (p.Ser347Phe) c.372+2282C>T (n.372+2282C>T) | ClinVar gnomAD v4 COSMIC |
| 5 | g.149980634T>A | CA447402264 | SLC26A2 | c.1041T>A (p.Ser347=) c.372+2283T>A (n.372+2283T>A) | |
| 5 | g.149980634T>C | CA447402265 | SLC26A2 | c.1041T>C (p.Ser347=) c.372+2283T>C (n.372+2283T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149980634T>G | CA447402266 | SLC26A2 | c.1041T>G (p.Ser347=) c.372+2283T>G (n.372+2283T>G) | |
| 5 | g.149980634T= | CA1590738461 | SLC26A2 | c.1041T= (p.Ser347=) c.372+2283T= (n.372+2283T=) | |
| 5 | g.149980635C>A | CA361707018 | SLC26A2 | c.1042C>A (p.His348Asn) c.372+2284C>A (n.372+2284C>A) | dbSNP gnomAD v4 |
| 5 | g.149980635C= | CA1590738462 | SLC26A2 | c.1042C= (p.His348=) c.372+2284C= (n.372+2284C=) | |
| 5 | g.149980635C>G | CA361707019 | SLC26A2 | c.1042C>G (p.His348Asp) c.372+2284C>G (n.372+2284C>G) | |
| 5 | g.149980635C>T | CA361707020 | SLC26A2 | c.1042C>T (p.His348Tyr) c.372+2284C>T (n.372+2284C>T) | |
| 5 | g.149980636A>C | CA361707021 | SLC26A2 | c.1043A>C (p.His348Pro) c.372+2285A>C (n.372+2285A>C) | |
| 5 | g.149980636A>G | CA361707022 | SLC26A2 | c.1043A>G (p.His348Arg) c.372+2285A>G (n.372+2285A>G) | gnomAD v4 |
| 5 | g.149980636A>T | CA361707023 | SLC26A2 | c.1043A>T (p.His348Leu) c.372+2285A>T (n.372+2285A>T) | |
| 5 | g.149980637T>A | CA361707024 | SLC26A2 | c.1044T>A (p.His348Gln) c.372+2286T>A (n.372+2286T>A) | |
| 5 | g.149980637T>C | CA447402270 | SLC26A2 | c.1044T>C (p.His348=) c.372+2286T>C (n.372+2286T>C) | |
| 5 | g.149980637T>G | CA361707025 | SLC26A2 | c.1044T>G (p.His348Gln) c.372+2286T>G (n.372+2286T>G) | |
| 5 | g.149980638T>A | CA361707028 | SLC26A2 | c.1045T>A (p.Phe349Ile) c.372+2287T>A (n.372+2287T>A) | |
| 5 | g.149980638T>C | CA361707027 | SLC26A2 | c.1045T>C (p.Phe349Leu) c.372+2287T>C (n.372+2287T>C) | |
| 5 | g.149980638T>G | CA361707026 | SLC26A2 | c.1045T>G (p.Phe349Val) c.372+2287T>G (n.372+2287T>G) | |
| 5 | g.149980639T>A | CA3505378 | SLC26A2 | c.1046T>A (p.Phe349Tyr) c.372+2288T>A (n.372+2288T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149980639T>C | CA361707029 | SLC26A2 | c.1046T>C (p.Phe349Ser) c.372+2288T>C (n.372+2288T>C) | |
| 5 | g.149980639T>G | CA361707030 | SLC26A2 | c.1046T>G (p.Phe349Cys) c.372+2288T>G (n.372+2288T>G) | |
| 5 | g.149980639T= | CA1590738463 | SLC26A2 | c.1046T= (p.Phe349=) c.372+2288T= (n.372+2288T=) | |
| 5 | g.149980640T>A | CA361707031 | SLC26A2 | c.1047T>A (p.Phe349Leu) c.372+2289T>A (n.372+2289T>A) | |
| 5 | g.149980640T>C | CA447402271 | SLC26A2 | c.1047T>C (p.Phe349=) c.372+2289T>C (n.372+2289T>C) | |
| 5 | g.149980640T>G | CA361707032 | SLC26A2 | c.1047T>G (p.Phe349Leu) c.372+2289T>G (n.372+2289T>G) | |
| 5 | g.149980641G>A | CA361707033 | SLC26A2 | c.1048G>A (p.Gly350Arg) c.372+2290G>A (n.372+2290G>A) | dbSNP |
| 5 | g.149980641G>C | CA361707034 | SLC26A2 | c.1048G>C (p.Gly350Arg) c.372+2290G>C (n.372+2290G>C) | |
| 5 | g.149980641G= | CA1590738464 | SLC26A2 | c.1048G= (p.Gly350=) c.372+2290G= (n.372+2290G=) | |
| 5 | g.149980641G>T | CA361707035 | SLC26A2 | c.1048G>T (p.Gly350Ter) c.372+2290G>T (n.372+2290G>T) | |
| 5 | g.149980642G>A | CA361707036 | SLC26A2 | c.1049G>A (p.Gly350Glu) c.372+2291G>A (n.372+2291G>A) | |
| 5 | g.149980642G>C | CA361707037 | SLC26A2 | c.1049G>C (p.Gly350Ala) c.372+2291G>C (n.372+2291G>C) | |
| 5 | g.149980642G>T | CA361707038 | SLC26A2 | c.1049G>T (p.Gly350Val) c.372+2291G>T (n.372+2291G>T) | |
| 5 | g.149980643A>C | CA447402272 | SLC26A2 | c.1050A>C (p.Gly350=) c.372+2292A>C (n.372+2292A>C) | |
| 5 | g.149980643A>G | CA447402273 | SLC26A2 | c.1050A>G (p.Gly350=) c.372+2292A>G (n.372+2292A>G) | |
| 5 | g.149980643A>T | CA447402274 | SLC26A2 | c.1050A>T (p.Gly350=) c.372+2292A>T (n.372+2292A>T) | |
| 5 | g.149980644A>C | CA361707041 | SLC26A2 | c.1051A>C (p.Lys351Gln) c.372+2293A>C (n.372+2293A>C) | |
| 5 | g.149980644A>G | CA361707040 | SLC26A2 | c.1051A>G (p.Lys351Glu) c.372+2293A>G (n.372+2293A>G) | |
| 5 | g.149980644A>T | CA361707039 | SLC26A2 | c.1051A>T (p.Lys351Ter) c.372+2293A>T (n.372+2293A>T) | |
| 5 | g.149980645A= | CA1590738465 | SLC26A2 | c.1052A= (p.Lys351=) c.372+2294A= (n.372+2294A=) | |
| 5 | g.149980645A>C | CA361707042 | SLC26A2 | c.1052A>C (p.Lys351Thr) c.372+2294A>C (n.372+2294A>C) | |
| 5 | g.149980645A>G | CA361707043 | SLC26A2 | c.1052A>G (p.Lys351Arg) c.372+2294A>G (n.372+2294A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149980645A>T | CA361707044 | SLC26A2 | c.1052A>T (p.Lys351Ile) c.372+2294A>T (n.372+2294A>T) | |
| 5 | g.149980646A>C | CA361707045 | SLC26A2 | c.1053A>C (p.Lys351Asn) c.372+2295A>C (n.372+2295A>C) | |
| 5 | g.149980646A>G | CA447402278 | SLC26A2 | c.1053A>G (p.Lys351=) c.372+2295A>G (n.372+2295A>G) | ClinVar |
| 5 | g.149980646A>T | CA361707046 | SLC26A2 | c.1053A>T (p.Lys351Asn) c.372+2295A>T (n.372+2295A>T) | |
| 5 | g.149980647C>A | CA361707047 | SLC26A2 | c.1054C>A (p.Leu352Ile) c.372+2296C>A (n.372+2296C>A) | |
| 5 | g.149980647C>G | CA361707048 | SLC26A2 | c.1054C>G (p.Leu352Val) c.372+2296C>G (n.372+2296C>G) | |
| 5 | g.149980647C>T | CA447402280 | SLC26A2 | c.1054C>T (p.Leu352=) c.372+2296C>T (n.372+2296C>T) | ClinVar |
| 5 | g.149980648T>A | CA361707049 | SLC26A2 | c.1055T>A (p.Leu352Gln) c.372+2297T>A (n.372+2297T>A) | |
| 5 | g.149980648T>C | CA361707051 | SLC26A2 | c.1055T>C (p.Leu352Pro) c.372+2297T>C (n.372+2297T>C) | |
| 5 | g.149980648T>G | CA361707050 | SLC26A2 | c.1055T>G (p.Leu352Arg) c.372+2297T>G (n.372+2297T>G) | |
| 5 | g.149980649A= | CA1590738466 | SLC26A2 | c.1056A= (p.Leu352=) c.372+2298A= (n.372+2298A=) | |
| 5 | g.149980649A>C | CA447402281 | SLC26A2 | c.1056A>C (p.Leu352=) c.372+2298A>C (n.372+2298A>C) | |
| 5 | g.149980649A>G | CA129084088 | SLC26A2 | c.1056A>G (p.Leu352=) c.372+2298A>G (n.372+2298A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149980649A>T | CA447402282 | SLC26A2 | c.1056A>T (p.Leu352=) c.372+2298A>T (n.372+2298A>T) | |
| 5 | g.149980650C>A | CA361707052 | SLC26A2 | c.1057C>A (p.His353Asn) c.372+2299C>A (n.372+2299C>A) | |
| 5 | g.149980650C= | CA1590738467 | SLC26A2 | c.1057C= (p.His353=) c.372+2299C= (n.372+2299C=) | |
| 5 | g.149980650C>G | CA361707053 | SLC26A2 | c.1057C>G (p.His353Asp) c.372+2299C>G (n.372+2299C>G) | |
| 5 | g.149980650C>T | CA3505379 | SLC26A2 | c.1057C>T (p.His353Tyr) c.372+2299C>T (n.372+2299C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149980651A= | CA1590738468 | SLC26A2 | c.1058A= (p.His353=) c.372+2300A= (n.372+2300A=) | |
| 5 | g.149980651A>C | CA361707054 | SLC26A2 | c.1058A>C (p.His353Pro) c.372+2300A>C (n.372+2300A>C) | |
| 5 | g.149980651A>G | CA361707056 | SLC26A2 | c.1058A>G (p.His353Arg) c.372+2300A>G (n.372+2300A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149980651A>T | CA361707055 | SLC26A2 | c.1058A>T (p.His353Leu) c.372+2300A>T (n.372+2300A>T) | |
| 5 | g.149980652T>A | CA361707057 | SLC26A2 | c.1059T>A (p.His353Gln) c.372+2301T>A (n.372+2301T>A) | |
| 5 | g.149980652T>C | CA3505380 | SLC26A2 | c.1059T>C (p.His353=) c.372+2301T>C (n.372+2301T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149980652T>G | CA361707058 | SLC26A2 | c.1059T>G (p.His353Gln) c.372+2301T>G (n.372+2301T>G) | gnomAD v4 |
| 5 | g.149980652T= | CA1590738469 | SLC26A2 | c.1059T= (p.His353=) c.372+2301T= (n.372+2301T=) | |
| 5 | g.149980653G>A | CA361707059 | SLC26A2 | c.1060G>A (p.Glu354Lys) c.372+2302G>A (n.372+2302G>A) | |
| 5 | g.149980653G>C | CA361707060 | SLC26A2 | c.1060G>C (p.Glu354Gln) c.372+2302G>C (n.372+2302G>C) | |
| 5 | g.149980653G= | CA1590738470 | SLC26A2 | c.1060G= (p.Glu354=) c.372+2302G= (n.372+2302G=) | |
| 5 | g.149980653G>T | CA16040994 | SLC26A2 | c.1060G>T (p.Glu354Ter) c.372+2302G>T (n.372+2302G>T) | ClinVar dbSNP |
| 5 | g.149980654A>C | CA361707061 | SLC26A2 | c.1061A>C (p.Glu354Ala) c.372+2303A>C (n.372+2303A>C) | gnomAD v4 |
| 5 | g.149980654A>G | CA361707062 | SLC26A2 | c.1061A>G (p.Glu354Gly) c.372+2303A>G (n.372+2303A>G) | |
| 5 | g.149980654A>T | CA361707063 | SLC26A2 | c.1061A>T (p.Glu354Val) c.372+2303A>T (n.372+2303A>T) | |
| 5 | g.149980657_149980658insAAAAA | CA2573139275 | SLC26A2 | c.1064_1065insAAAAA (p.Asn355LysfsTer26) c.372+2306_372+2307insAAAAA (n.372+2306_372+2307insAAAAA) | ClinVar dbSNP |
| 5 | g.149980655A>C | CA361707064 | SLC26A2 | c.1062A>C (p.Glu354Asp) c.372+2304A>C (n.372+2304A>C) | |
| 5 | g.149980655A>G | CA447402288 | SLC26A2 | c.1062A>G (p.Glu354=) c.372+2304A>G (n.372+2304A>G) | |
| 5 | g.149980655A>T | CA361707065 | SLC26A2 | c.1062A>T (p.Glu354Asp) c.372+2304A>T (n.372+2304A>T) | |
| 5 | g.149980656A>C | CA361707068 | SLC26A2 | c.1063A>C (p.Asn355His) c.372+2305A>C (n.372+2305A>C) | |
| 5 | g.149980656A>G | CA361707067 | SLC26A2 | c.1063A>G (p.Asn355Asp) c.372+2305A>G (n.372+2305A>G) | |
| 5 | g.149980656A>T | CA361707066 | SLC26A2 | c.1063A>T (p.Asn355Tyr) c.372+2305A>T (n.372+2305A>T) | |
| 5 | g.149980657A>C | CA361707070 | SLC26A2 | c.1064A>C (p.Asn355Thr) c.372+2306A>C (n.372+2306A>C) | |
| 5 | g.149980657A>G | CA361707069 | SLC26A2 | c.1064A>G (p.Asn355Ser) c.372+2306A>G (n.372+2306A>G) | |
| 5 | g.149980657A>T | CA361707071 | SLC26A2 | c.1064A>T (p.Asn355Ile) c.372+2306A>T (n.372+2306A>T) | |
| 5 | g.149980658T>A | CA361707072 | SLC26A2 | c.1065T>A (p.Asn355Lys) c.372+2307T>A (n.372+2307T>A) | |
| 5 | g.149980658T>C | CA447402290 | SLC26A2 | c.1065T>C (p.Asn355=) c.372+2307T>C (n.372+2307T>C) | |
| 5 | g.149980658T>G | CA361707073 | SLC26A2 | c.1065T>G (p.Asn355Lys) c.372+2307T>G (n.372+2307T>G) | |
| 5 | g.149980659T>A | CA361707074 | SLC26A2 | c.1066T>A (p.Tyr356Asn) c.372+2308T>A (n.372+2308T>A) | |
| 5 | g.149980659T>C | CA361707075 | SLC26A2 | c.1066T>C (p.Tyr356His) c.372+2308T>C (n.372+2308T>C) | |
| 5 | g.149980659T>G | CA361707076 | SLC26A2 | c.1066T>G (p.Tyr356Asp) c.372+2308T>G (n.372+2308T>G) | |
| 5 | g.149980660A= | CA1590738471 | SLC26A2 | c.1067A= (p.Tyr356=) c.372+2309A= (n.372+2309A=) | |
| 5 | g.149980660A>C | CA361707077 | SLC26A2 | c.1067A>C (p.Tyr356Ser) c.372+2309A>C (n.372+2309A>C) | |
| 5 | g.149980660A>G | CA3505381 | SLC26A2 | c.1067A>G (p.Tyr356Cys) c.372+2309A>G (n.372+2309A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149980660A>T | CA361707078 | SLC26A2 | c.1067A>T (p.Tyr356Phe) c.372+2309A>T (n.372+2309A>T) | |
| 5 | g.149980661T>A | CA361707079 | SLC26A2 | c.1068T>A (p.Tyr356Ter) c.372+2310T>A (n.372+2310T>A) | |
| 5 | g.149980661T>C | CA447402294 | SLC26A2 | c.1068T>C (p.Tyr356=) c.372+2310T>C (n.372+2310T>C) | |
| 5 | g.149980661T>G | CA361707080 | SLC26A2 | c.1068T>G (p.Tyr356Ter) c.372+2310T>G (n.372+2310T>G) | |
| 5 | g.149980662A>C | CA361707081 | SLC26A2 | c.1069A>C (p.Asn357His) c.372+2311A>C (n.372+2311A>C) | |
| 5 | g.149980662A>G | CA361707082 | SLC26A2 | c.1069A>G (p.Asn357Asp) c.372+2311A>G (n.372+2311A>G) | gnomAD v4 |
| 5 | g.149980662A>T | CA361707083 | SLC26A2 | c.1069A>T (p.Asn357Tyr) c.372+2311A>T (n.372+2311A>T) | |
| 5 | g.149980663del | CA2675943643 | SLC26A2 | c.1070del (p.Asn357IlefsTer22) c.372+2312del (n.372+2312del) | gnomAD v4 |
| 5 | g.149980663A>C | CA361707086 | SLC26A2 | c.1070A>C (p.Asn357Thr) c.372+2312A>C (n.372+2312A>C) | |
| 5 | g.149980663A>G | CA361707084 | SLC26A2 | c.1070A>G (p.Asn357Ser) c.372+2312A>G (n.372+2312A>G) | |
| 5 | g.149980663A>T | CA361707085 | SLC26A2 | c.1070A>T (p.Asn357Ile) c.372+2312A>T (n.372+2312A>T) | |
| 5 | g.149980664T>A | CA361707087 | SLC26A2 | c.1071T>A (p.Asn357Lys) c.372+2313T>A (n.372+2313T>A) | |
| 5 | g.149980664T>C | CA447402296 | SLC26A2 | c.1071T>C (p.Asn357=) c.372+2313T>C (n.372+2313T>C) | |
| 5 | g.149980664T>G | CA361707088 | SLC26A2 | c.1071T>G (p.Asn357Lys) c.372+2313T>G (n.372+2313T>G) | |
| 5 | g.149980665T>A | CA361707089 | SLC26A2 | c.1072T>A (p.Ser358Thr) c.372+2314T>A (n.372+2314T>A) | |
| 5 | g.149980665T>C | CA361707090 | SLC26A2 | c.1072T>C (p.Ser358Pro) c.372+2314T>C (n.372+2314T>C) | |
| 5 | g.149980665T>G | CA361707091 | SLC26A2 | c.1072T>G (p.Ser358Ala) c.372+2314T>G (n.372+2314T>G) | |
| 5 | g.149980666C>A | CA3505382 | SLC26A2 | c.1073C>A (p.Ser358Tyr) c.372+2315C>A (n.372+2315C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149980666C= | CA1590738472 | SLC26A2 | c.1073C= (p.Ser358=) c.372+2315C= (n.372+2315C=) | |
| 5 | g.149980666C>G | CA361707092 | SLC26A2 | c.1073C>G (p.Ser358Cys) c.372+2315C>G (n.372+2315C>G) | |
| 5 | g.149980666C>T | CA361707093 | SLC26A2 | c.1073C>T (p.Ser358Phe) c.372+2315C>T (n.372+2315C>T) | ClinVar dbSNP |
| 5 | g.149980667T>A | CA447402301 | SLC26A2 | c.1074T>A (p.Ser358=) c.372+2316T>A (n.372+2316T>A) | |
| 5 | g.149980667T>C | CA447402302 | SLC26A2 | c.1074T>C (p.Ser358=) c.372+2316T>C (n.372+2316T>C) | |
| 5 | g.149980667T>G | CA447402303 | SLC26A2 | c.1074T>G (p.Ser358=) c.372+2316T>G (n.372+2316T>G) | |
| 5 | g.149980668A= | CA1590738473 | SLC26A2 | c.1075A= (p.Ser359=) c.372+2317A= (n.372+2317A=) | |
| 5 | g.149980668A>C | CA361707094 | SLC26A2 | c.1075A>C (p.Ser359Arg) c.372+2317A>C (n.372+2317A>C) | |
| 5 | g.149980668A>G | CA361707095 | SLC26A2 | c.1075A>G (p.Ser359Gly) c.372+2317A>G (n.372+2317A>G) | dbSNP |
| 5 | g.149980668A>T | CA361707096 | SLC26A2 | c.1075A>T (p.Ser359Cys) c.372+2317A>T (n.372+2317A>T) | |
| 5 | g.149980669G>A | CA361707099 | SLC26A2 | c.1076G>A (p.Ser359Asn) c.372+2318G>A (n.372+2318G>A) | gnomAD v4 |
| 5 | g.149980669G>C | CA361707098 | SLC26A2 | c.1076G>C (p.Ser359Thr) c.372+2318G>C (n.372+2318G>C) | |
| 5 | g.149980669G>T | CA361707097 | SLC26A2 | c.1076G>T (p.Ser359Ile) c.372+2318G>T (n.372+2318G>T) | |
| 5 | g.149980670T>A | CA361707100 | SLC26A2 | c.1077T>A (p.Ser359Arg) c.372+2319T>A (n.372+2319T>A) | |
| 5 | g.149980670T>C | CA447402305 | SLC26A2 | c.1077T>C (p.Ser359=) c.372+2319T>C (n.372+2319T>C) | gnomAD v4 |
| 5 | g.149980670T>G | CA361707101 | SLC26A2 | c.1077T>G (p.Ser359Arg) c.372+2319T>G (n.372+2319T>G) | |
| 5 | g.149980671A>C | CA361707102 | SLC26A2 | c.1078A>C (p.Ile360Leu) c.372+2320A>C (n.372+2320A>C) | |
| 5 | g.149980671A>G | CA361707103 | SLC26A2 | c.1078A>G (p.Ile360Val) c.372+2320A>G (n.372+2320A>G) | gnomAD v4 |
| 5 | g.149980671A>T | CA361707104 | SLC26A2 | c.1078A>T (p.Ile360Phe) c.372+2320A>T (n.372+2320A>T) | |
| 5 | g.149980672T>A | CA361707105 | SLC26A2 | c.1079T>A (p.Ile360Asn) c.372+2321T>A (n.372+2321T>A) | |
| 5 | g.149980672T>C | CA361707106 | SLC26A2 | c.1079T>C (p.Ile360Thr) c.372+2321T>C (n.372+2321T>C) | gnomAD v4 |
| 5 | g.149980672T>G | CA361707107 | SLC26A2 | c.1079T>G (p.Ile360Ser) c.372+2321T>G (n.372+2321T>G) | |
| 5 | g.149980673T>A | CA447402306 | SLC26A2 | c.1080T>A (p.Ile360=) c.372+2322T>A (n.372+2322T>A) | |
| 5 | g.149980673T>C | CA447402307 | SLC26A2 | c.1080T>C (p.Ile360=) c.372+2322T>C (n.372+2322T>C) | |
| 5 | g.149980673T>G | CA361707108 | SLC26A2 | c.1080T>G (p.Ile360Met) c.372+2322T>G (n.372+2322T>G) | |
| 5 | g.149980674G>A | CA3505383 | SLC26A2 | c.1081G>A (p.Ala361Thr) c.372+2323G>A (n.372+2323G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149980674G>C | CA361707109 | SLC26A2 | c.1081G>C (p.Ala361Pro) c.372+2323G>C (n.372+2323G>C) | |
| 5 | g.149980674G= | CA1590738474 | SLC26A2 | c.1081G= (p.Ala361=) c.372+2323G= (n.372+2323G=) | |
| 5 | g.149980674G>T | CA361707110 | SLC26A2 | c.1081G>T (p.Ala361Ser) c.372+2323G>T (n.372+2323G>T) | gnomAD v4 |
| 5 | g.149980675C>A | CA361707112 | SLC26A2 | c.1082C>A (p.Ala361Asp) c.372+2324C>A (n.372+2324C>A) | |
| 5 | g.149980675C= | CA1590738475 | SLC26A2 | c.1082C= (p.Ala361=) c.372+2324C= (n.372+2324C=) | |
| 5 | g.149980675C>G | CA361707113 | SLC26A2 | c.1082C>G (p.Ala361Gly) c.372+2324C>G (n.372+2324C>G) | |
| 5 | g.149980675C>T | CA361707111 | SLC26A2 | c.1082C>T (p.Ala361Val) c.372+2324C>T (n.372+2324C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149980676T>A | CA447402312 | SLC26A2 | c.1083T>A (p.Ala361=) c.372+2325T>A (n.372+2325T>A) | |
| 5 | g.149980676T>C | CA447402315 | SLC26A2 | c.1083T>C (p.Ala361=) c.372+2325T>C (n.372+2325T>C) | |
| 5 | g.149980676T>G | CA447402313 | SLC26A2 | c.1083T>G (p.Ala361=) c.372+2325T>G (n.372+2325T>G) | |
| 5 | g.149980677G>A | CA361707114 | SLC26A2 | c.1084G>A (p.Gly362Arg) c.372+2326G>A (n.372+2326G>A) | |
| 5 | g.149980677G>C | CA361707115 | SLC26A2 | c.1084G>C (p.Gly362Arg) c.372+2326G>C (n.372+2326G>C) | |
| 5 | g.149980677G>T | CA361707116 | SLC26A2 | c.1084G>T (p.Gly362Ter) c.372+2326G>T (n.372+2326G>T) | |
| 5 | g.149980678G>A | CA361707117 | SLC26A2 | c.1085G>A (p.Gly362Glu) c.372+2327G>A (n.372+2327G>A) | |
| 5 | g.149980678G>C | CA361707118 | SLC26A2 | c.1085G>C (p.Gly362Ala) c.372+2327G>C (n.372+2327G>C) | |
| 5 | g.149980678G= | CA1590738476 | SLC26A2 | c.1085G= (p.Gly362=) c.372+2327G= (n.372+2327G=) | |
| 5 | g.149980678G>T | CA361707119 | SLC26A2 | c.1085G>T (p.Gly362Val) c.372+2327G>T (n.372+2327G>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149980679A= | CA1590738477 | SLC26A2 | c.1086A= (p.Gly362=) c.372+2328A= (n.372+2328A=) | |
| 5 | g.149980679A>C | CA447402316 | SLC26A2 | c.1086A>C (p.Gly362=) c.372+2328A>C (n.372+2328A>C) | |
| 5 | g.149980679A>G | CA447402317 | SLC26A2 | c.1086A>G (p.Gly362=) c.372+2328A>G (n.372+2328A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149980679A>T | CA447402318 | SLC26A2 | c.1086A>T (p.Gly362=) c.372+2328A>T (n.372+2328A>T) | |
| 5 | g.149980680_149980683dup | CA2675943644 | SLC26A2 | c.1087_1090dup (p.Ile364ThrfsTer19) c.372+2329_372+2332dup (n.372+2329_372+2332dup) | gnomAD v4 |
| 5 | g.149980680C>A | CA361707120 | SLC26A2 | c.1087C>A (p.His363Asn) c.372+2329C>A (n.372+2329C>A) | |
| 5 | g.149980680C= | CA1590738478 | SLC26A2 | c.1087C= (p.His363=) c.372+2329C= (n.372+2329C=) | |
| 5 | g.149980680C>G | CA361707122 | SLC26A2 | c.1087C>G (p.His363Asp) c.372+2329C>G (n.372+2329C>G) | |
| 5 | g.149980680C>T | CA361707121 | SLC26A2 | c.1087C>T (p.His363Tyr) c.372+2329C>T (n.372+2329C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149980681A>C | CA361707123 | SLC26A2 | c.1088A>C (p.His363Pro) c.372+2330A>C (n.372+2330A>C) | |
| 5 | g.149980681A>G | CA361707124 | SLC26A2 | c.1088A>G (p.His363Arg) c.372+2330A>G (n.372+2330A>G) | gnomAD v4 |
| 5 | g.149980681A>T | CA361707125 | SLC26A2 | c.1088A>T (p.His363Leu) c.372+2330A>T (n.372+2330A>T) |