WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.3228917C>A | CA408086994 | SLC4A11 | c.2113G>T (p.Ala705Ser) c.2044G>T (p.Ala682Ser) c.1984G>T (p.Ala662Ser) c.1999G>T (p.Ala667Ser) c.2161G>T (p.Ala721Ser) c.2242G>T (p.Ala748Ser) c.*261G>T (n.*261G>T) c.2482G>T (p.Ala828Ser) c.2056G>T (p.Ala686Ser) c.2080G>T (p.Ala694Ser) n.2211G>T c.2476G>T (p.Ala826Ser) n.2656G>T n.2636G>T c.2128G>T (p.Ala710Ser) n.2621G>T | |
| 20 | g.3228917C= | CA2346475238 | SLC4A11 | c.2113G= (p.Ala705=) c.2044G= (p.Ala682=) c.1984G= (p.Ala662=) c.1999G= (p.Ala667=) c.2161G= (p.Ala721=) c.2242G= (p.Ala748=) c.*261G= (n.*261G=) c.2482G= (p.Ala828=) c.2056G= (p.Ala686=) c.2080G= (p.Ala694=) n.2211G= c.2476G= (p.Ala826=) n.2656G= n.2636G= c.2128G= (p.Ala710=) n.2621G= | |
| 20 | g.3228917C>G | CA408086995 | SLC4A11 | c.2113G>C (p.Ala705Pro) c.2044G>C (p.Ala682Pro) c.1984G>C (p.Ala662Pro) c.1999G>C (p.Ala667Pro) c.2161G>C (p.Ala721Pro) c.2242G>C (p.Ala748Pro) c.*261G>C (n.*261G>C) c.2482G>C (p.Ala828Pro) c.2056G>C (p.Ala686Pro) c.2080G>C (p.Ala694Pro) n.2211G>C c.2476G>C (p.Ala826Pro) n.2656G>C n.2636G>C c.2128G>C (p.Ala710Pro) n.2621G>C | |
| 20 | g.3228917C>T | CA9741589 | SLC4A11 | c.2113G>A (p.Ala705Thr) c.2044G>A (p.Ala682Thr) c.1984G>A (p.Ala662Thr) c.1999G>A (p.Ala667Thr) c.2161G>A (p.Ala721Thr) c.2242G>A (p.Ala748Thr) c.*261G>A (n.*261G>A) c.2482G>A (p.Ala828Thr) c.2056G>A (p.Ala686Thr) c.2080G>A (p.Ala694Thr) n.2211G>A c.2476G>A (p.Ala826Thr) n.2656G>A n.2636G>A c.2128G>A (p.Ala710Thr) n.2621G>A | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 20 | g.3228918G>A | CA9741590 | SLC4A11 | c.2112C>T (p.Ala704=) c.2043C>T (p.Ala681=) c.1983C>T (p.Ala661=) c.1998C>T (p.Ala666=) c.2160C>T (p.Ala720=) c.2241C>T (p.Ala747=) c.*260C>T (n.*260C>T) c.2481C>T (p.Ala827=) c.2055C>T (p.Ala685=) c.2079C>T (p.Ala693=) n.2210C>T c.2475C>T (p.Ala825=) n.2655C>T n.2635C>T c.2127C>T (p.Ala709=) n.2620C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.3228918G>C | CA509558237 | SLC4A11 | c.2112C>G (p.Ala704=) c.2043C>G (p.Ala681=) c.1983C>G (p.Ala661=) c.1998C>G (p.Ala666=) c.2160C>G (p.Ala720=) c.2241C>G (p.Ala747=) c.*260C>G (n.*260C>G) c.2481C>G (p.Ala827=) c.2055C>G (p.Ala685=) c.2079C>G (p.Ala693=) n.2210C>G c.2475C>G (p.Ala825=) n.2655C>G n.2635C>G c.2127C>G (p.Ala709=) n.2620C>G | |
| 20 | g.3228918G= | CA2346475239 | SLC4A11 | c.2112C= (p.Ala704=) c.2043C= (p.Ala681=) c.1983C= (p.Ala661=) c.1998C= (p.Ala666=) c.2160C= (p.Ala720=) c.2241C= (p.Ala747=) c.*260C= (n.*260C=) c.2481C= (p.Ala827=) c.2055C= (p.Ala685=) c.2079C= (p.Ala693=) n.2210C= c.2475C= (p.Ala825=) n.2655C= n.2635C= c.2127C= (p.Ala709=) n.2620C= | |
| 20 | g.3228918G>T | CA509558238 | SLC4A11 | c.2112C>A (p.Ala704=) c.2043C>A (p.Ala681=) c.1983C>A (p.Ala661=) c.1998C>A (p.Ala666=) c.2160C>A (p.Ala720=) c.2241C>A (p.Ala747=) c.*260C>A (n.*260C>A) c.2481C>A (p.Ala827=) c.2055C>A (p.Ala685=) c.2079C>A (p.Ala693=) n.2210C>A c.2475C>A (p.Ala825=) n.2655C>A n.2635C>A c.2127C>A (p.Ala709=) n.2620C>A | |
| 20 | g.3228919G>A | CA310985932 | SLC4A11 | c.2111C>T (p.Ala704Val) c.2042C>T (p.Ala681Val) c.1982C>T (p.Ala661Val) c.1997C>T (p.Ala666Val) c.2159C>T (p.Ala720Val) c.2240C>T (p.Ala747Val) c.*259C>T (n.*259C>T) c.2480C>T (p.Ala827Val) c.2054C>T (p.Ala685Val) c.2078C>T (p.Ala693Val) n.2209C>T c.2474C>T (p.Ala825Val) n.2654C>T n.2634C>T c.2126C>T (p.Ala709Val) n.2619C>T | dbSNP COSMIC COSMIC |
| 20 | g.3228919G>C | CA408086996 | SLC4A11 | c.2111C>G (p.Ala704Gly) c.2042C>G (p.Ala681Gly) c.1982C>G (p.Ala661Gly) c.1997C>G (p.Ala666Gly) c.2159C>G (p.Ala720Gly) c.2240C>G (p.Ala747Gly) c.*259C>G (n.*259C>G) c.2480C>G (p.Ala827Gly) c.2054C>G (p.Ala685Gly) c.2078C>G (p.Ala693Gly) n.2209C>G c.2474C>G (p.Ala825Gly) n.2654C>G n.2634C>G c.2126C>G (p.Ala709Gly) n.2619C>G | |
| 20 | g.3228919G= | CA2346475240 | SLC4A11 | c.2111C= (p.Ala704=) c.2042C= (p.Ala681=) c.1982C= (p.Ala661=) c.1997C= (p.Ala666=) c.2159C= (p.Ala720=) c.2240C= (p.Ala747=) c.*259C= (n.*259C=) c.2480C= (p.Ala827=) c.2054C= (p.Ala685=) c.2078C= (p.Ala693=) n.2209C= c.2474C= (p.Ala825=) n.2654C= n.2634C= c.2126C= (p.Ala709=) n.2619C= | |
| 20 | g.3228919G>T | CA408086997 | SLC4A11 | c.2111C>A (p.Ala704Asp) c.2042C>A (p.Ala681Asp) c.1982C>A (p.Ala661Asp) c.1997C>A (p.Ala666Asp) c.2159C>A (p.Ala720Asp) c.2240C>A (p.Ala747Asp) c.*259C>A (n.*259C>A) c.2480C>A (p.Ala827Asp) c.2054C>A (p.Ala685Asp) c.2078C>A (p.Ala693Asp) n.2209C>A c.2474C>A (p.Ala825Asp) n.2654C>A n.2634C>A c.2126C>A (p.Ala709Asp) n.2619C>A | gnomAD v4 |
| 20 | g.3228920C>A | CA408086998 | SLC4A11 | c.2110G>T (p.Ala704Ser) c.2041G>T (p.Ala681Ser) c.1981G>T (p.Ala661Ser) c.1996G>T (p.Ala666Ser) c.2158G>T (p.Ala720Ser) c.2239G>T (p.Ala747Ser) c.*258G>T (n.*258G>T) c.2479G>T (p.Ala827Ser) c.2053G>T (p.Ala685Ser) c.2077G>T (p.Ala693Ser) n.2208G>T c.2473G>T (p.Ala825Ser) n.2653G>T n.2633G>T c.2125G>T (p.Ala709Ser) n.2618G>T | |
| 20 | g.3228920C>G | CA408086999 | SLC4A11 | c.2110G>C (p.Ala704Pro) c.2041G>C (p.Ala681Pro) c.1981G>C (p.Ala661Pro) c.1996G>C (p.Ala666Pro) c.2158G>C (p.Ala720Pro) c.2239G>C (p.Ala747Pro) c.*258G>C (n.*258G>C) c.2479G>C (p.Ala827Pro) c.2053G>C (p.Ala685Pro) c.2077G>C (p.Ala693Pro) n.2208G>C c.2473G>C (p.Ala825Pro) n.2653G>C n.2633G>C c.2125G>C (p.Ala709Pro) n.2618G>C | |
| 20 | g.3228920C>T | CA408087000 | SLC4A11 | c.2110G>A (p.Ala704Thr) c.2041G>A (p.Ala681Thr) c.1981G>A (p.Ala661Thr) c.1996G>A (p.Ala666Thr) c.2158G>A (p.Ala720Thr) c.2239G>A (p.Ala747Thr) c.*258G>A (n.*258G>A) c.2479G>A (p.Ala827Thr) c.2053G>A (p.Ala685Thr) c.2077G>A (p.Ala693Thr) n.2208G>A c.2473G>A (p.Ala825Thr) n.2653G>A n.2633G>A c.2125G>A (p.Ala709Thr) n.2618G>A | |
| 20 | g.3228921A= | CA2346475241 | SLC4A11 | c.2109T= (p.His703=) c.2040T= (p.His680=) c.1980T= (p.His660=) c.1995T= (p.His665=) c.2157T= (p.His719=) c.2238T= (p.His746=) c.*257T= (n.*257T=) c.2478T= (p.His826=) c.2052T= (p.His684=) c.2076T= (p.His692=) n.2207T= c.2472T= (p.His824=) n.2652T= n.2632T= c.2124T= (p.His708=) n.2617T= | |
| 20 | g.3228921A>C | CA408087001 | SLC4A11 | c.2109T>G (p.His703Gln) c.2040T>G (p.His680Gln) c.1980T>G (p.His660Gln) c.1995T>G (p.His665Gln) c.2157T>G (p.His719Gln) c.2238T>G (p.His746Gln) c.*257T>G (n.*257T>G) c.2478T>G (p.His826Gln) c.2052T>G (p.His684Gln) c.2076T>G (p.His692Gln) n.2207T>G c.2472T>G (p.His824Gln) n.2652T>G n.2632T>G c.2124T>G (p.His708Gln) n.2617T>G | |
| 20 | g.3228921A>G | CA9741591 | SLC4A11 | c.2109T>C (p.His703=) c.2040T>C (p.His680=) c.1980T>C (p.His660=) c.1995T>C (p.His665=) c.2157T>C (p.His719=) c.2238T>C (p.His746=) c.*257T>C (n.*257T>C) c.2478T>C (p.His826=) c.2052T>C (p.His684=) c.2076T>C (p.His692=) n.2207T>C c.2472T>C (p.His824=) n.2652T>C n.2632T>C c.2124T>C (p.His708=) n.2617T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.3228921A>T | CA408087002 | SLC4A11 | c.2109T>A (p.His703Gln) c.2040T>A (p.His680Gln) c.1980T>A (p.His660Gln) c.1995T>A (p.His665Gln) c.2157T>A (p.His719Gln) c.2238T>A (p.His746Gln) c.*257T>A (n.*257T>A) c.2478T>A (p.His826Gln) c.2052T>A (p.His684Gln) c.2076T>A (p.His692Gln) n.2207T>A c.2472T>A (p.His824Gln) n.2652T>A n.2632T>A c.2124T>A (p.His708Gln) n.2617T>A | |
| 20 | g.3228922T>A | CA408087003 | SLC4A11 | c.2108A>T (p.His703Leu) c.2039A>T (p.His680Leu) c.1979A>T (p.His660Leu) c.1994A>T (p.His665Leu) c.2156A>T (p.His719Leu) c.2237A>T (p.His746Leu) c.*256A>T (n.*256A>T) c.2477A>T (p.His826Leu) c.2051A>T (p.His684Leu) c.2075A>T (p.His692Leu) n.2206A>T c.2471A>T (p.His824Leu) n.2651A>T n.2631A>T c.2123A>T (p.His708Leu) n.2616A>T | |
| 20 | g.3228922T>C | CA408087004 | SLC4A11 | c.2108A>G (p.His703Arg) c.2039A>G (p.His680Arg) c.1979A>G (p.His660Arg) c.1994A>G (p.His665Arg) c.2156A>G (p.His719Arg) c.2237A>G (p.His746Arg) c.*256A>G (n.*256A>G) c.2477A>G (p.His826Arg) c.2051A>G (p.His684Arg) c.2075A>G (p.His692Arg) n.2206A>G c.2471A>G (p.His824Arg) n.2651A>G n.2631A>G c.2123A>G (p.His708Arg) n.2616A>G | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.3228922T>G | CA408087005 | SLC4A11 | c.2108A>C (p.His703Pro) c.2039A>C (p.His680Pro) c.1979A>C (p.His660Pro) c.1994A>C (p.His665Pro) c.2156A>C (p.His719Pro) c.2237A>C (p.His746Pro) c.*256A>C (n.*256A>C) c.2477A>C (p.His826Pro) c.2051A>C (p.His684Pro) c.2075A>C (p.His692Pro) n.2206A>C c.2471A>C (p.His824Pro) n.2651A>C n.2631A>C c.2123A>C (p.His708Pro) n.2616A>C | |
| 20 | g.3228922T= | CA2346475242 | SLC4A11 | c.2108A= (p.His703=) c.2039A= (p.His680=) c.1979A= (p.His660=) c.1994A= (p.His665=) c.2156A= (p.His719=) c.2237A= (p.His746=) c.*256A= (n.*256A=) c.2477A= (p.His826=) c.2051A= (p.His684=) c.2075A= (p.His692=) n.2206A= c.2471A= (p.His824=) n.2651A= n.2631A= c.2123A= (p.His708=) n.2616A= | |
| 20 | g.3228923G>A | CA408087006 | SLC4A11 | c.2107C>T (p.His703Tyr) c.2038C>T (p.His680Tyr) c.1978C>T (p.His660Tyr) c.1993C>T (p.His665Tyr) c.2155C>T (p.His719Tyr) c.2236C>T (p.His746Tyr) c.*255C>T (n.*255C>T) c.2476C>T (p.His826Tyr) c.2050C>T (p.His684Tyr) c.2074C>T (p.His692Tyr) n.2205C>T c.2470C>T (p.His824Tyr) n.2650C>T n.2630C>T c.2122C>T (p.His708Tyr) n.2615C>T | gnomAD v4 COSMIC COSMIC |
| 20 | g.3228923G>C | CA408087007 | SLC4A11 | c.2107C>G (p.His703Asp) c.2038C>G (p.His680Asp) c.1978C>G (p.His660Asp) c.1993C>G (p.His665Asp) c.2155C>G (p.His719Asp) c.2236C>G (p.His746Asp) c.*255C>G (n.*255C>G) c.2476C>G (p.His826Asp) c.2050C>G (p.His684Asp) c.2074C>G (p.His692Asp) n.2205C>G c.2470C>G (p.His824Asp) n.2650C>G n.2630C>G c.2122C>G (p.His708Asp) n.2615C>G | |
| 20 | g.3228923G>T | CA408087008 | SLC4A11 | c.2107C>A (p.His703Asn) c.2038C>A (p.His680Asn) c.1978C>A (p.His660Asn) c.1993C>A (p.His665Asn) c.2155C>A (p.His719Asn) c.2236C>A (p.His746Asn) c.*255C>A (n.*255C>A) c.2476C>A (p.His826Asn) c.2050C>A (p.His684Asn) c.2074C>A (p.His692Asn) n.2205C>A c.2470C>A (p.His824Asn) n.2650C>A n.2630C>A c.2122C>A (p.His708Asn) n.2615C>A | |
| 20 | g.3228924G>A | CA9741592 | SLC4A11 | c.2106C>T (p.Ile702=) c.2037C>T (p.Ile679=) c.1977C>T (p.Ile659=) c.1992C>T (p.Ile664=) c.2154C>T (p.Ile718=) c.2235C>T (p.Ile745=) c.*254C>T (n.*254C>T) c.2475C>T (p.Ile825=) c.2049C>T (p.Ile683=) c.2073C>T (p.Ile691=) n.2204C>T c.2469C>T (p.Ile823=) n.2649C>T n.2629C>T c.2121C>T (p.Ile707=) n.2614C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.3228924G>C | CA408087009 | SLC4A11 | c.2106C>G (p.Ile702Met) c.2037C>G (p.Ile679Met) c.1977C>G (p.Ile659Met) c.1992C>G (p.Ile664Met) c.2154C>G (p.Ile718Met) c.2235C>G (p.Ile745Met) c.*254C>G (n.*254C>G) c.2475C>G (p.Ile825Met) c.2049C>G (p.Ile683Met) c.2073C>G (p.Ile691Met) n.2204C>G c.2469C>G (p.Ile823Met) n.2649C>G n.2629C>G c.2121C>G (p.Ile707Met) n.2614C>G | |
| 20 | g.3228924G= | CA2346475243 | SLC4A11 | c.2106C= (p.Ile702=) c.2037C= (p.Ile679=) c.1977C= (p.Ile659=) c.1992C= (p.Ile664=) c.2154C= (p.Ile718=) c.2235C= (p.Ile745=) c.*254C= (n.*254C=) c.2475C= (p.Ile825=) c.2049C= (p.Ile683=) c.2073C= (p.Ile691=) n.2204C= c.2469C= (p.Ile823=) n.2649C= n.2629C= c.2121C= (p.Ile707=) n.2614C= | |
| 20 | g.3228924G>T | CA509558244 | SLC4A11 | c.2106C>A (p.Ile702=) c.2037C>A (p.Ile679=) c.1977C>A (p.Ile659=) c.1992C>A (p.Ile664=) c.2154C>A (p.Ile718=) c.2235C>A (p.Ile745=) c.*254C>A (n.*254C>A) c.2475C>A (p.Ile825=) c.2049C>A (p.Ile683=) c.2073C>A (p.Ile691=) n.2204C>A c.2469C>A (p.Ile823=) n.2649C>A n.2629C>A c.2121C>A (p.Ile707=) n.2614C>A | |
| 20 | g.3228925A>C | CA408087010 | SLC4A11 | c.2105T>G (p.Ile702Ser) c.2036T>G (p.Ile679Ser) c.1976T>G (p.Ile659Ser) c.1991T>G (p.Ile664Ser) c.2153T>G (p.Ile718Ser) c.2234T>G (p.Ile745Ser) c.*253T>G (n.*253T>G) c.2474T>G (p.Ile825Ser) c.2048T>G (p.Ile683Ser) c.2072T>G (p.Ile691Ser) n.2203T>G c.2468T>G (p.Ile823Ser) n.2648T>G n.2628T>G c.2120T>G (p.Ile707Ser) n.2613T>G | |
| 20 | g.3228925A>G | CA408087012 | SLC4A11 | c.2105T>C (p.Ile702Thr) c.2036T>C (p.Ile679Thr) c.1976T>C (p.Ile659Thr) c.1991T>C (p.Ile664Thr) c.2153T>C (p.Ile718Thr) c.2234T>C (p.Ile745Thr) c.*253T>C (n.*253T>C) c.2474T>C (p.Ile825Thr) c.2048T>C (p.Ile683Thr) c.2072T>C (p.Ile691Thr) n.2203T>C c.2468T>C (p.Ile823Thr) n.2648T>C n.2628T>C c.2120T>C (p.Ile707Thr) n.2613T>C | |
| 20 | g.3228925A>T | CA408087011 | SLC4A11 | c.2105T>A (p.Ile702Asn) c.2036T>A (p.Ile679Asn) c.1976T>A (p.Ile659Asn) c.1991T>A (p.Ile664Asn) c.2153T>A (p.Ile718Asn) c.2234T>A (p.Ile745Asn) c.*253T>A (n.*253T>A) c.2474T>A (p.Ile825Asn) c.2048T>A (p.Ile683Asn) c.2072T>A (p.Ile691Asn) n.2203T>A c.2468T>A (p.Ile823Asn) n.2648T>A n.2628T>A c.2120T>A (p.Ile707Asn) n.2613T>A | |
| 20 | g.3228926T>A | CA408087013 | SLC4A11 | c.2104A>T (p.Ile702Phe) c.2035A>T (p.Ile679Phe) c.1975A>T (p.Ile659Phe) c.1990A>T (p.Ile664Phe) c.2152A>T (p.Ile718Phe) c.2233A>T (p.Ile745Phe) c.*252A>T (n.*252A>T) c.2473A>T (p.Ile825Phe) c.2047A>T (p.Ile683Phe) c.2071A>T (p.Ile691Phe) n.2202A>T c.2467A>T (p.Ile823Phe) n.2647A>T n.2627A>T c.2119A>T (p.Ile707Phe) n.2612A>T | |
| 20 | g.3228926T>C | CA408087014 | SLC4A11 | c.2104A>G (p.Ile702Val) c.2035A>G (p.Ile679Val) c.1975A>G (p.Ile659Val) c.1990A>G (p.Ile664Val) c.2152A>G (p.Ile718Val) c.2233A>G (p.Ile745Val) c.*252A>G (n.*252A>G) c.2473A>G (p.Ile825Val) c.2047A>G (p.Ile683Val) c.2071A>G (p.Ile691Val) n.2202A>G c.2467A>G (p.Ile823Val) n.2647A>G n.2627A>G c.2119A>G (p.Ile707Val) n.2612A>G | |
| 20 | g.3228926T>G | CA408087015 | SLC4A11 | c.2104A>C (p.Ile702Leu) c.2035A>C (p.Ile679Leu) c.1975A>C (p.Ile659Leu) c.1990A>C (p.Ile664Leu) c.2152A>C (p.Ile718Leu) c.2233A>C (p.Ile745Leu) c.*252A>C (n.*252A>C) c.2473A>C (p.Ile825Leu) c.2047A>C (p.Ile683Leu) c.2071A>C (p.Ile691Leu) n.2202A>C c.2467A>C (p.Ile823Leu) n.2647A>C n.2627A>C c.2119A>C (p.Ile707Leu) n.2612A>C | |
| 20 | g.3228927C>A | CA408087016 | SLC4A11 | c.2103G>T (p.Trp701Cys) c.2034G>T (p.Trp678Cys) c.1974G>T (p.Trp658Cys) c.1989G>T (p.Trp663Cys) c.2151G>T (p.Trp717Cys) c.2232G>T (p.Trp744Cys) c.*251G>T (n.*251G>T) c.2472G>T (p.Trp824Cys) c.2046G>T (p.Trp682Cys) c.2070G>T (p.Trp690Cys) n.2201G>T c.2466G>T (p.Trp822Cys) n.2646G>T n.2626G>T c.2118G>T (p.Trp706Cys) n.2611G>T | |
| 20 | g.3228927C= | CA2346475244 | SLC4A11 | c.2103G= (p.Trp701=) c.2034G= (p.Trp678=) c.1974G= (p.Trp658=) c.1989G= (p.Trp663=) c.2151G= (p.Trp717=) c.2232G= (p.Trp744=) c.*251G= (n.*251G=) c.2472G= (p.Trp824=) c.2046G= (p.Trp682=) c.2070G= (p.Trp690=) n.2201G= c.2466G= (p.Trp822=) n.2646G= n.2626G= c.2118G= (p.Trp706=) n.2611G= | |
| 20 | g.3228927C>G | CA408087017 | SLC4A11 | c.2103G>C (p.Trp701Cys) c.2034G>C (p.Trp678Cys) c.1974G>C (p.Trp658Cys) c.1989G>C (p.Trp663Cys) c.2151G>C (p.Trp717Cys) c.2232G>C (p.Trp744Cys) c.*251G>C (n.*251G>C) c.2472G>C (p.Trp824Cys) c.2046G>C (p.Trp682Cys) c.2070G>C (p.Trp690Cys) n.2201G>C c.2466G>C (p.Trp822Cys) n.2646G>C n.2626G>C c.2118G>C (p.Trp706Cys) n.2611G>C | |
| 20 | g.3228927C>T | CA408087018 | SLC4A11 | c.2103G>A (p.Trp701Ter) c.2034G>A (p.Trp678Ter) c.1974G>A (p.Trp658Ter) c.1989G>A (p.Trp663Ter) c.2151G>A (p.Trp717Ter) c.2232G>A (p.Trp744Ter) c.*251G>A (n.*251G>A) c.2472G>A (p.Trp824Ter) c.2046G>A (p.Trp682Ter) c.2070G>A (p.Trp690Ter) n.2201G>A c.2466G>A (p.Trp822Ter) n.2646G>A n.2626G>A c.2118G>A (p.Trp706Ter) n.2611G>A | |
| 20 | g.3228928C>A | CA408087019 | SLC4A11 | c.2102G>T (p.Trp701Leu) c.2033G>T (p.Trp678Leu) c.1973G>T (p.Trp658Leu) c.1988G>T (p.Trp663Leu) c.2150G>T (p.Trp717Leu) c.2231G>T (p.Trp744Leu) c.*250G>T (n.*250G>T) n.695G>T c.2471G>T (p.Trp824Leu) c.2045G>T (p.Trp682Leu) c.2069G>T (p.Trp690Leu) n.2200G>T c.2465G>T (p.Trp822Leu) n.2645G>T n.2625G>T c.2117G>T (p.Trp706Leu) n.2610G>T | |
| 20 | g.3228928C= | CA2346475245 | SLC4A11 | c.2102G= (p.Trp701=) c.2033G= (p.Trp678=) c.1973G= (p.Trp658=) c.1988G= (p.Trp663=) c.2150G= (p.Trp717=) c.2231G= (p.Trp744=) c.*250G= (n.*250G=) n.695G= c.2471G= (p.Trp824=) c.2045G= (p.Trp682=) c.2069G= (p.Trp690=) n.2200G= c.2465G= (p.Trp822=) n.2645G= n.2625G= c.2117G= (p.Trp706=) n.2610G= | |
| 20 | g.3228928C>G | CA408087020 | SLC4A11 | c.2102G>C (p.Trp701Ser) c.2033G>C (p.Trp678Ser) c.1973G>C (p.Trp658Ser) c.1988G>C (p.Trp663Ser) c.2150G>C (p.Trp717Ser) c.2231G>C (p.Trp744Ser) c.*250G>C (n.*250G>C) n.695G>C c.2471G>C (p.Trp824Ser) c.2045G>C (p.Trp682Ser) c.2069G>C (p.Trp690Ser) n.2200G>C c.2465G>C (p.Trp822Ser) n.2645G>C n.2625G>C c.2117G>C (p.Trp706Ser) n.2610G>C | |
| 20 | g.3228928C>T | CA9741593 | SLC4A11 | c.2102G>A (p.Trp701Ter) c.2033G>A (p.Trp678Ter) c.1973G>A (p.Trp658Ter) c.1988G>A (p.Trp663Ter) c.2150G>A (p.Trp717Ter) c.2231G>A (p.Trp744Ter) c.*250G>A (n.*250G>A) n.695G>A c.2471G>A (p.Trp824Ter) c.2045G>A (p.Trp682Ter) c.2069G>A (p.Trp690Ter) n.2200G>A c.2465G>A (p.Trp822Ter) n.2645G>A n.2625G>A c.2117G>A (p.Trp706Ter) n.2610G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.3228929A>C | CA408087021 | SLC4A11 | c.2101T>G (p.Trp701Gly) c.2032T>G (p.Trp678Gly) c.1972T>G (p.Trp658Gly) c.1987T>G (p.Trp663Gly) c.2149T>G (p.Trp717Gly) c.2230T>G (p.Trp744Gly) c.*249T>G (n.*249T>G) n.694T>G c.2470T>G (p.Trp824Gly) c.2044T>G (p.Trp682Gly) c.2068T>G (p.Trp690Gly) n.2199T>G c.2464T>G (p.Trp822Gly) n.2644T>G n.2624T>G c.2116T>G (p.Trp706Gly) n.2609T>G | |
| 20 | g.3228929A>G | CA408087022 | SLC4A11 | c.2101T>C (p.Trp701Arg) c.2032T>C (p.Trp678Arg) c.1972T>C (p.Trp658Arg) c.1987T>C (p.Trp663Arg) c.2149T>C (p.Trp717Arg) c.2230T>C (p.Trp744Arg) c.*249T>C (n.*249T>C) n.694T>C c.2470T>C (p.Trp824Arg) c.2044T>C (p.Trp682Arg) c.2068T>C (p.Trp690Arg) n.2199T>C c.2464T>C (p.Trp822Arg) n.2644T>C n.2624T>C c.2116T>C (p.Trp706Arg) n.2609T>C | |
| 20 | g.3228929A>T | CA408087023 | SLC4A11 | c.2101T>A (p.Trp701Arg) c.2032T>A (p.Trp678Arg) c.1972T>A (p.Trp658Arg) c.1987T>A (p.Trp663Arg) c.2149T>A (p.Trp717Arg) c.2230T>A (p.Trp744Arg) c.*249T>A (n.*249T>A) n.694T>A c.2470T>A (p.Trp824Arg) c.2044T>A (p.Trp682Arg) c.2068T>A (p.Trp690Arg) n.2199T>A c.2464T>A (p.Trp822Arg) n.2644T>A n.2624T>A c.2116T>A (p.Trp706Arg) n.2609T>A | |
| 20 | g.3228930A>C | CA509558257 | SLC4A11 | c.2100T>G (p.Pro700=) c.2031T>G (p.Pro677=) c.1971T>G (p.Pro657=) c.1986T>G (p.Pro662=) c.2148T>G (p.Pro716=) c.2229T>G (p.Pro743=) c.*248T>G (n.*248T>G) n.693T>G c.2469T>G (p.Pro823=) c.2043T>G (p.Pro681=) c.2067T>G (p.Pro689=) n.2198T>G c.2463T>G (p.Pro821=) n.2643T>G n.2623T>G c.2115T>G (p.Pro705=) n.2608T>G | |
| 20 | g.3228930A>G | CA509558258 | SLC4A11 | c.2100T>C (p.Pro700=) c.2031T>C (p.Pro677=) c.1971T>C (p.Pro657=) c.1986T>C (p.Pro662=) c.2148T>C (p.Pro716=) c.2229T>C (p.Pro743=) c.*248T>C (n.*248T>C) n.693T>C c.2469T>C (p.Pro823=) c.2043T>C (p.Pro681=) c.2067T>C (p.Pro689=) n.2198T>C c.2463T>C (p.Pro821=) n.2643T>C n.2623T>C c.2115T>C (p.Pro705=) n.2608T>C | |
| 20 | g.3228930A>T | CA509558259 | SLC4A11 | c.2100T>A (p.Pro700=) c.2031T>A (p.Pro677=) c.1971T>A (p.Pro657=) c.1986T>A (p.Pro662=) c.2148T>A (p.Pro716=) c.2229T>A (p.Pro743=) c.*248T>A (n.*248T>A) n.693T>A c.2469T>A (p.Pro823=) c.2043T>A (p.Pro681=) c.2067T>A (p.Pro689=) n.2198T>A c.2463T>A (p.Pro821=) n.2643T>A n.2623T>A c.2115T>A (p.Pro705=) n.2608T>A |