Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.51139477G>A | CA495780214 | SALL1 | c.2745C>T (p.Gly915=) c.2454C>T (p.Gly818=) c.77-1925C>T (n.77-1925C>T) | |
16 | g.51139477G>C | CA495780215 | SALL1 | c.2745C>G (p.Gly915=) c.2454C>G (p.Gly818=) c.77-1925C>G (n.77-1925C>G) | |
16 | g.51139477G>T | CA495780217 | SALL1 | c.2745C>A (p.Gly915=) c.2454C>A (p.Gly818=) c.77-1925C>A (n.77-1925C>A) | |
16 | g.51139478C>A | CA395883979 | SALL1 | c.2744G>T (p.Gly915Val) c.2453G>T (p.Gly818Val) c.77-1926G>T (n.77-1926G>T) | |
16 | g.51139478C>G | CA395883980 | SALL1 | c.2744G>C (p.Gly915Ala) c.2453G>C (p.Gly818Ala) c.77-1926G>C (n.77-1926G>C) | |
16 | g.51139478C>T | CA395883981 | SALL1 | c.2744G>A (p.Gly915Asp) c.2453G>A (p.Gly818Asp) c.77-1926G>A (n.77-1926G>A) | |
16 | g.51139479C>A | CA395883982 | SALL1 | c.2743G>T (p.Gly915Cys) c.2452G>T (p.Gly818Cys) c.77-1927G>T (n.77-1927G>T) | |
16 | g.51139479C>G | CA395883983 | SALL1 | c.2743G>C (p.Gly915Arg) c.2452G>C (p.Gly818Arg) c.77-1927G>C (n.77-1927G>C) | |
16 | g.51139479C>T | CA395883984 | SALL1 | c.2743G>A (p.Gly915Ser) c.2452G>A (p.Gly818Ser) c.77-1927G>A (n.77-1927G>A) | COSMIC |
16 | g.51139480A= | CA2222018111 | SALL1 | c.2742T= (p.Ala914=) c.2451T= (p.Ala817=) c.77-1928T= (n.77-1928T=) | |
16 | g.51139480A>C | CA495780220 | SALL1 | c.2742T>G (p.Ala914=) c.2451T>G (p.Ala817=) c.77-1928T>G (n.77-1928T>G) | |
16 | g.51139480A>G | CA495780222 | SALL1 | c.2742T>C (p.Ala914=) c.2451T>C (p.Ala817=) c.77-1928T>C (n.77-1928T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51139480A>T | CA495780221 | SALL1 | c.2742T>A (p.Ala914=) c.2451T>A (p.Ala817=) c.77-1928T>A (n.77-1928T>A) | |
16 | g.51139481G>A | CA395883987 | SALL1 | c.2741C>T (p.Ala914Val) c.2450C>T (p.Ala817Val) c.77-1929C>T (n.77-1929C>T) | |
16 | g.51139481G>C | CA395883986 | SALL1 | c.2741C>G (p.Ala914Gly) c.2450C>G (p.Ala817Gly) c.77-1929C>G (n.77-1929C>G) | |
16 | g.51139481G>T | CA395883985 | SALL1 | c.2741C>A (p.Ala914Asp) c.2450C>A (p.Ala817Asp) c.77-1929C>A (n.77-1929C>A) | |
16 | g.51139482C>A | CA395883990 | SALL1 | c.2740G>T (p.Ala914Ser) c.2449G>T (p.Ala817Ser) c.77-1930G>T (n.77-1930G>T) | gnomAD v4 |
16 | g.51139482C>G | CA395883988 | SALL1 | c.2740G>C (p.Ala914Pro) c.2449G>C (p.Ala817Pro) c.77-1930G>C (n.77-1930G>C) | |
16 | g.51139482C>T | CA395883989 | SALL1 | c.2740G>A (p.Ala914Thr) c.2449G>A (p.Ala817Thr) c.77-1930G>A (n.77-1930G>A) | gnomAD v4 |
16 | g.51139483A= | CA2222018115 | SALL1 | c.2739T= (p.Ser913=) c.2448T= (p.Ser816=) c.77-1931T= (n.77-1931T=) | |
16 | g.51139483A>C | CA8053050 | SALL1 | c.2739T>G (p.Ser913Arg) c.2448T>G (p.Ser816Arg) c.77-1931T>G (n.77-1931T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51139483A>G | CA281301138 | SALL1 | c.2739T>C (p.Ser913=) c.2448T>C (p.Ser816=) c.77-1931T>C (n.77-1931T>C) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.51139483A>T | CA395883991 | SALL1 | c.2739T>A (p.Ser913Arg) c.2448T>A (p.Ser816Arg) c.77-1931T>A (n.77-1931T>A) | |
16 | g.51139484C>A | CA395883992 | SALL1 | c.2738G>T (p.Ser913Ile) c.2447G>T (p.Ser816Ile) c.77-1932G>T (n.77-1932G>T) | dbSNP |
16 | g.51139484C= | CA2222018119 | SALL1 | c.2738G= (p.Ser913=) c.2447G= (p.Ser816=) c.77-1932G= (n.77-1932G=) | |
16 | g.51139484C>G | CA395883993 | SALL1 | c.2738G>C (p.Ser913Thr) c.2447G>C (p.Ser816Thr) c.77-1932G>C (n.77-1932G>C) | gnomAD v4 |
16 | g.51139484C>T | CA395883994 | SALL1 | c.2738G>A (p.Ser913Asn) c.2447G>A (p.Ser816Asn) c.77-1932G>A (n.77-1932G>A) | |
16 | g.51139485T>A | CA395883995 | SALL1 | c.2737A>T (p.Ser913Cys) c.2446A>T (p.Ser816Cys) c.77-1933A>T (n.77-1933A>T) | |
16 | g.51139485T>C | CA395883996 | SALL1 | c.2737A>G (p.Ser913Gly) c.2446A>G (p.Ser816Gly) c.77-1933A>G (n.77-1933A>G) | |
16 | g.51139485T>G | CA395883997 | SALL1 | c.2737A>C (p.Ser913Arg) c.2446A>C (p.Ser816Arg) c.77-1933A>C (n.77-1933A>C) | |
16 | g.51139486T>A | CA395883998 | SALL1 | c.2736A>T (p.Gln912His) c.2445A>T (p.Gln815His) c.77-1934A>T (n.77-1934A>T) | |
16 | g.51139486T>C | CA495780225 | SALL1 | c.2736A>G (p.Gln912=) c.2445A>G (p.Gln815=) c.77-1934A>G (n.77-1934A>G) | gnomAD v4 |
16 | g.51139486T>G | CA395883999 | SALL1 | c.2736A>C (p.Gln912His) c.2445A>C (p.Gln815His) c.77-1934A>C (n.77-1934A>C) | |
16 | g.51139487T>A | CA395884002 | SALL1 | c.2735A>T (p.Gln912Leu) c.2444A>T (p.Gln815Leu) c.77-1935A>T (n.77-1935A>T) | |
16 | g.51139487T>C | CA395884000 | SALL1 | c.2735A>G (p.Gln912Arg) c.2444A>G (p.Gln815Arg) c.77-1935A>G (n.77-1935A>G) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.51139487T>G | CA395884001 | SALL1 | c.2735A>C (p.Gln912Pro) c.2444A>C (p.Gln815Pro) c.77-1935A>C (n.77-1935A>C) | |
16 | g.51139487T= | CA2222018122 | SALL1 | c.2735A= (p.Gln912=) c.2444A= (p.Gln815=) c.77-1935A= (n.77-1935A=) | |
16 | g.51139488G>A | CA395884003 | SALL1 | c.2734C>T (p.Gln912Ter) c.2443C>T (p.Gln815Ter) c.77-1936C>T (n.77-1936C>T) | |
16 | g.51139488G>C | CA395884004 | SALL1 | c.2734C>G (p.Gln912Glu) c.2443C>G (p.Gln815Glu) c.77-1936C>G (n.77-1936C>G) | |
16 | g.51139488G>T | CA395884005 | SALL1 | c.2734C>A (p.Gln912Lys) c.2443C>A (p.Gln815Lys) c.77-1936C>A (n.77-1936C>A) | |
16 | g.51139489G>A | CA495780227 | SALL1 | c.2733C>T (p.Ser911=) c.2442C>T (p.Ser814=) c.77-1937C>T (n.77-1937C>T) | |
16 | g.51139489G>C | CA395884006 | SALL1 | c.2733C>G (p.Ser911Arg) c.2442C>G (p.Ser814Arg) c.77-1937C>G (n.77-1937C>G) | |
16 | g.51139489G>T | CA395884007 | SALL1 | c.2733C>A (p.Ser911Arg) c.2442C>A (p.Ser814Arg) c.77-1937C>A (n.77-1937C>A) | |
16 | g.51139490C>A | CA395884008 | SALL1 | c.2732G>T (p.Ser911Ile) c.2441G>T (p.Ser814Ile) c.77-1938G>T (n.77-1938G>T) | |
16 | g.51139490C>G | CA395884009 | SALL1 | c.2732G>C (p.Ser911Thr) c.2441G>C (p.Ser814Thr) c.77-1938G>C (n.77-1938G>C) | |
16 | g.51139490C>T | CA395884010 | SALL1 | c.2732G>A (p.Ser911Asn) c.2441G>A (p.Ser814Asn) c.77-1938G>A (n.77-1938G>A) | |
16 | g.51139491T>A | CA395884011 | SALL1 | c.2731A>T (p.Ser911Cys) c.2440A>T (p.Ser814Cys) c.77-1939A>T (n.77-1939A>T) | |
16 | g.51139491T>C | CA395884012 | SALL1 | c.2731A>G (p.Ser911Gly) c.2440A>G (p.Ser814Gly) c.77-1939A>G (n.77-1939A>G) | |
16 | g.51139491T>G | CA395884013 | SALL1 | c.2731A>C (p.Ser911Arg) c.2440A>C (p.Ser814Arg) c.77-1939A>C (n.77-1939A>C) | |
16 | g.51139492T>A | CA395884014 | SALL1 | c.2730A>T (p.Glu910Asp) c.2439A>T (p.Glu813Asp) c.77-1940A>T (n.77-1940A>T) | |
16 | g.51139492T>C | CA495780229 | SALL1 | c.2730A>G (p.Glu910=) c.2439A>G (p.Glu813=) c.77-1940A>G (n.77-1940A>G) | |
16 | g.51139492T>G | CA395884015 | SALL1 | c.2730A>C (p.Glu910Asp) c.2439A>C (p.Glu813Asp) c.77-1940A>C (n.77-1940A>C) | |
16 | g.51139493T>A | CA395884017 | SALL1 | c.2729A>T (p.Glu910Val) c.2438A>T (p.Glu813Val) c.77-1941A>T (n.77-1941A>T) | |
16 | g.51139493T>C | CA281301144 | SALL1 | c.2729A>G (p.Glu910Gly) c.2438A>G (p.Glu813Gly) c.77-1941A>G (n.77-1941A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51139493T>G | CA395884016 | SALL1 | c.2729A>C (p.Glu910Ala) c.2438A>C (p.Glu813Ala) c.77-1941A>C (n.77-1941A>C) | |
16 | g.51139493T= | CA2222018125 | SALL1 | c.2729A= (p.Glu910=) c.2438A= (p.Glu813=) c.77-1941A= (n.77-1941A=) | |
16 | g.51139494C>A | CA395884018 | SALL1 | c.2728G>T (p.Glu910Ter) c.2437G>T (p.Glu813Ter) c.77-1942G>T (n.77-1942G>T) | |
16 | g.51139494C= | CA2222018134 | SALL1 | c.2728G= (p.Glu910=) c.2437G= (p.Glu813=) c.77-1942G= (n.77-1942G=) | |
16 | g.51139494C>G | CA395884019 | SALL1 | c.2728G>C (p.Glu910Gln) c.2437G>C (p.Glu813Gln) c.77-1942G>C (n.77-1942G>C) | |
16 | g.51139494C>T | CA281301151 | SALL1 | c.2728G>A (p.Glu910Lys) c.2437G>A (p.Glu813Lys) c.77-1942G>A (n.77-1942G>A) | dbSNP COSMIC |
16 | g.51139495C>A | CA395884020 | SALL1 | c.2727G>T (p.Met909Ile) c.2436G>T (p.Met812Ile) c.77-1943G>T (n.77-1943G>T) | |
16 | g.51139495C= | CA2222018139 | SALL1 | c.2727G= (p.Met909=) c.2436G= (p.Met812=) c.77-1943G= (n.77-1943G=) | |
16 | g.51139495C>G | CA395884021 | SALL1 | c.2727G>C (p.Met909Ile) c.2436G>C (p.Met812Ile) c.77-1943G>C (n.77-1943G>C) | |
16 | g.51139495C>T | CA281301155 | SALL1 | c.2727G>A (p.Met909Ile) c.2436G>A (p.Met812Ile) c.77-1943G>A (n.77-1943G>A) | dbSNP COSMIC |
16 | g.51139496A>C | CA395884022 | SALL1 | c.2726T>G (p.Met909Arg) c.2435T>G (p.Met812Arg) c.77-1944T>G (n.77-1944T>G) | |
16 | g.51139496A>G | CA395884023 | SALL1 | c.2726T>C (p.Met909Thr) c.2435T>C (p.Met812Thr) c.77-1944T>C (n.77-1944T>C) | gnomAD v4 |
16 | g.51139496A>T | CA395884024 | SALL1 | c.2726T>A (p.Met909Lys) c.2435T>A (p.Met812Lys) c.77-1944T>A (n.77-1944T>A) | |
16 | g.51139497T>A | CA395884025 | SALL1 | c.2725A>T (p.Met909Leu) c.2434A>T (p.Met812Leu) c.77-1945A>T (n.77-1945A>T) | gnomAD v4 |
16 | g.51139497T>C | CA8053051 | SALL1 | c.2725A>G (p.Met909Val) c.2434A>G (p.Met812Val) c.77-1945A>G (n.77-1945A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51139497T>G | CA395884026 | SALL1 | c.2725A>C (p.Met909Leu) c.2434A>C (p.Met812Leu) c.77-1945A>C (n.77-1945A>C) | |
16 | g.51139497T= | CA2222018146 | SALL1 | c.2725A= (p.Met909=) c.2434A= (p.Met812=) c.77-1945A= (n.77-1945A=) | |
16 | g.51139498G>A | CA495780233 | SALL1 | c.2724C>T (p.Asp908=) c.2433C>T (p.Asp811=) c.77-1946C>T (n.77-1946C>T) | |
16 | g.51139498G>C | CA395884027 | SALL1 | c.2724C>G (p.Asp908Glu) c.2433C>G (p.Asp811Glu) c.77-1946C>G (n.77-1946C>G) | |
16 | g.51139498G>T | CA395884028 | SALL1 | c.2724C>A (p.Asp908Glu) c.2433C>A (p.Asp811Glu) c.77-1946C>A (n.77-1946C>A) | |
16 | g.51139499T>A | CA395884031 | SALL1 | c.2723A>T (p.Asp908Val) c.2432A>T (p.Asp811Val) c.77-1947A>T (n.77-1947A>T) | |
16 | g.51139499T>C | CA395884030 | SALL1 | c.2723A>G (p.Asp908Gly) c.2432A>G (p.Asp811Gly) c.77-1947A>G (n.77-1947A>G) | |
16 | g.51139499T>G | CA395884029 | SALL1 | c.2723A>C (p.Asp908Ala) c.2432A>C (p.Asp811Ala) c.77-1947A>C (n.77-1947A>C) | |
16 | g.51139500C>A | CA395884032 | SALL1 | c.2722G>T (p.Asp908Tyr) c.2431G>T (p.Asp811Tyr) c.77-1948G>T (n.77-1948G>T) | |
16 | g.51139500C>G | CA395884033 | SALL1 | c.2722G>C (p.Asp908His) c.2431G>C (p.Asp811His) c.77-1948G>C (n.77-1948G>C) | |
16 | g.51139500C>T | CA395884034 | SALL1 | c.2722G>A (p.Asp908Asn) c.2431G>A (p.Asp811Asn) c.77-1948G>A (n.77-1948G>A) | |
16 | g.51139501A= | CA2222018151 | SALL1 | c.2721T= (p.Gly907=) c.2430T= (p.Gly810=) c.77-1949T= (n.77-1949T=) | |
16 | g.51139501A>C | CA495780236 | SALL1 | c.2721T>G (p.Gly907=) c.2430T>G (p.Gly810=) c.77-1949T>G (n.77-1949T>G) | |
16 | g.51139501A>G | CA495780237 | SALL1 | c.2721T>C (p.Gly907=) c.2430T>C (p.Gly810=) c.77-1949T>C (n.77-1949T>C) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.51139501A>T | CA495780238 | SALL1 | c.2721T>A (p.Gly907=) c.2430T>A (p.Gly810=) c.77-1949T>A (n.77-1949T>A) | |
16 | g.51139502C>A | CA395884035 | SALL1 | c.2720G>T (p.Gly907Val) c.2429G>T (p.Gly810Val) c.77-1950G>T (n.77-1950G>T) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.51139502C= | CA2222018154 | SALL1 | c.2720G= (p.Gly907=) c.2429G= (p.Gly810=) c.77-1950G= (n.77-1950G=) | |
16 | g.51139502C>G | CA395884036 | SALL1 | c.2720G>C (p.Gly907Ala) c.2429G>C (p.Gly810Ala) c.77-1950G>C (n.77-1950G>C) | |
16 | g.51139502C>T | CA395884037 | SALL1 | c.2720G>A (p.Gly907Asp) c.2429G>A (p.Gly810Asp) c.77-1950G>A (n.77-1950G>A) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.51139503C>A | CA395884038 | SALL1 | c.2719G>T (p.Gly907Cys) c.2428G>T (p.Gly810Cys) c.77-1951G>T (n.77-1951G>T) | |
16 | g.51139503C>G | CA395884039 | SALL1 | c.2719G>C (p.Gly907Arg) c.2428G>C (p.Gly810Arg) c.77-1951G>C (n.77-1951G>C) | |
16 | g.51139503C>T | CA395884040 | SALL1 | c.2719G>A (p.Gly907Ser) c.2428G>A (p.Gly810Ser) c.77-1951G>A (n.77-1951G>A) | gnomAD v4 |
16 | g.51139504A>C | CA495780239 | SALL1 | c.2718T>G (p.Gly906=) c.2427T>G (p.Gly809=) c.77-1952T>G (n.77-1952T>G) | |
16 | g.51139504A>G | CA495780240 | SALL1 | c.2718T>C (p.Gly906=) c.2427T>C (p.Gly809=) c.77-1952T>C (n.77-1952T>C) | |
16 | g.51139504A>T | CA495780241 | SALL1 | c.2718T>A (p.Gly906=) c.2427T>A (p.Gly809=) c.77-1952T>A (n.77-1952T>A) | |
16 | g.51139505C>A | CA395884041 | SALL1 | c.2717G>T (p.Gly906Val) c.2426G>T (p.Gly809Val) c.77-1953G>T (n.77-1953G>T) | |
16 | g.51139505C= | CA2222018159 | SALL1 | c.2717G= (p.Gly906=) c.2426G= (p.Gly809=) c.77-1953G= (n.77-1953G=) | |
16 | g.51139505C>G | CA395884042 | SALL1 | c.2717G>C (p.Gly906Ala) c.2426G>C (p.Gly809Ala) c.77-1953G>C (n.77-1953G>C) | |
16 | g.51139505C>T | CA395884043 | SALL1 | c.2717G>A (p.Gly906Asp) c.2426G>A (p.Gly809Asp) c.77-1953G>A (n.77-1953G>A) | dbSNP |
16 | g.51139506C>A | CA395884046 | SALL1 | c.2716G>T (p.Gly906Cys) c.2425G>T (p.Gly809Cys) c.77-1954G>T (n.77-1954G>T) | |
16 | g.51139506C= | CA2222018163 | SALL1 | c.2716G= (p.Gly906=) c.2425G= (p.Gly809=) c.77-1954G= (n.77-1954G=) | |
16 | g.51139506C>G | CA395884045 | SALL1 | c.2716G>C (p.Gly906Arg) c.2425G>C (p.Gly809Arg) c.77-1954G>C (n.77-1954G>C) | |
16 | g.51139506C>T | CA395884044 | SALL1 | c.2716G>A (p.Gly906Ser) c.2425G>A (p.Gly809Ser) c.77-1954G>A (n.77-1954G>A) | dbSNP |
16 | g.51139506_51139510delinsCCACT | CA2222018162 | SALL1 | c.2712_2716delinsAGTGG (p.Ser904=) c.2421_2425delinsAGTGG (p.Ser807=) c.77-1958_77-1954delinsAGTGG (n.77-1958_77-1954delinsAGTGG) | |
16 | g.51139507C>A | CA495780245 | SALL1 | c.2715G>T (p.Val905=) c.2424G>T (p.Val808=) c.77-1955G>T (n.77-1955G>T) | dbSNP gnomAD v4 |
16 | g.51139507C= | CA2222018167 | SALL1 | c.2715G= (p.Val905=) c.2424G= (p.Val808=) c.77-1955G= (n.77-1955G=) | |
16 | g.51139507C>G | CA495780246 | SALL1 | c.2715G>C (p.Val905=) c.2424G>C (p.Val808=) c.77-1955G>C (n.77-1955G>C) | dbSNP gnomAD v4 |
16 | g.51139507C>T | CA495780247 | SALL1 | c.2715G>A (p.Val905=) c.2424G>A (p.Val808=) c.77-1955G>A (n.77-1955G>A) | |
16 | g.51139507_51139510del | CA915949260 | SALL1 | c.2712_2715del (p.Gly906ValfsTer?) c.2421_2424del (p.Gly809ValfsTer?) c.77-1958_77-1955del (n.77-1958_77-1955del) | ClinVar dbSNP |
16 | g.51139508A>C | CA395884047 | SALL1 | c.2714T>G (p.Val905Gly) c.2423T>G (p.Val808Gly) c.77-1956T>G (n.77-1956T>G) | |
16 | g.51139508A>G | CA395884048 | SALL1 | c.2714T>C (p.Val905Ala) c.2423T>C (p.Val808Ala) c.77-1956T>C (n.77-1956T>C) | |
16 | g.51139508A>T | CA395884049 | SALL1 | c.2714T>A (p.Val905Glu) c.2423T>A (p.Val808Glu) c.77-1956T>A (n.77-1956T>A) | |
16 | g.51139509C>A | CA395884050 | SALL1 | c.2713G>T (p.Val905Leu) c.2422G>T (p.Val808Leu) c.77-1957G>T (n.77-1957G>T) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.51139509C= | CA2222018171 | SALL1 | c.2713G= (p.Val905=) c.2422G= (p.Val808=) c.77-1957G= (n.77-1957G=) | |
16 | g.51139509C>G | CA395884051 | SALL1 | c.2713G>C (p.Val905Leu) c.2422G>C (p.Val808Leu) c.77-1957G>C (n.77-1957G>C) | |
16 | g.51139509C>T | CA395884052 | SALL1 | c.2713G>A (p.Val905Met) c.2422G>A (p.Val808Met) c.77-1957G>A (n.77-1957G>A) | |
16 | g.51139510T>A | CA495780249 | SALL1 | c.2712A>T (p.Ser904=) c.2421A>T (p.Ser807=) c.77-1958A>T (n.77-1958A>T) | |
16 | g.51139510T>C | CA495780248 | SALL1 | c.2712A>G (p.Ser904=) c.2421A>G (p.Ser807=) c.77-1958A>G (n.77-1958A>G) | |
16 | g.51139510T>G | CA8053052 | SALL1 | c.2712A>C (p.Ser904=) c.2421A>C (p.Ser807=) c.77-1958A>C (n.77-1958A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51139510T= | CA2222018174 | SALL1 | c.2712A= (p.Ser904=) c.2421A= (p.Ser807=) c.77-1958A= (n.77-1958A=) | |
16 | g.51139511G>A | CA395884053 | SALL1 | c.2711C>T (p.Ser904Leu) c.2420C>T (p.Ser807Leu) c.77-1959C>T (n.77-1959C>T) | |
16 | g.51139511G>C | CA395884055 | SALL1 | c.2711C>G (p.Ser904Ter) c.2420C>G (p.Ser807Ter) c.77-1959C>G (n.77-1959C>G) | |
16 | g.51139511G>T | CA395884054 | SALL1 | c.2711C>A (p.Ser904Ter) c.2420C>A (p.Ser807Ter) c.77-1959C>A (n.77-1959C>A) | |
16 | g.51139512A>C | CA395884056 | SALL1 | c.2710T>G (p.Ser904Ala) c.2419T>G (p.Ser807Ala) c.77-1960T>G (n.77-1960T>G) | |
16 | g.51139512A>G | CA395884057 | SALL1 | c.2710T>C (p.Ser904Pro) c.2419T>C (p.Ser807Pro) c.77-1960T>C (n.77-1960T>C) | |
16 | g.51139512A>T | CA395884058 | SALL1 | c.2710T>A (p.Ser904Thr) c.2419T>A (p.Ser807Thr) c.77-1960T>A (n.77-1960T>A) | |
16 | g.51139513G>A | CA495780250 | SALL1 | c.2709C>T (p.Ser903=) c.2418C>T (p.Ser806=) c.77-1961C>T (n.77-1961C>T) | gnomAD v4 |
16 | g.51139513G>C | CA8053053 | SALL1 | c.2709C>G (p.Ser903=) c.2418C>G (p.Ser806=) c.77-1961C>G (n.77-1961C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.51139513G= | CA2222018176 | SALL1 | c.2709C= (p.Ser903=) c.2418C= (p.Ser806=) c.77-1961C= (n.77-1961C=) | |
16 | g.51139513G>T | CA495780251 | SALL1 | c.2709C>A (p.Ser903=) c.2418C>A (p.Ser806=) c.77-1961C>A (n.77-1961C>A) | |
16 | g.51139514G>A | CA395884059 | SALL1 | c.2708C>T (p.Ser903Phe) c.2417C>T (p.Ser806Phe) c.77-1962C>T (n.77-1962C>T) | gnomAD v4 COSMIC |
16 | g.51139514G>C | CA395884061 | SALL1 | c.2708C>G (p.Ser903Cys) c.2417C>G (p.Ser806Cys) c.77-1962C>G (n.77-1962C>G) | |
16 | g.51139514G>T | CA395884060 | SALL1 | c.2708C>A (p.Ser903Tyr) c.2417C>A (p.Ser806Tyr) c.77-1962C>A (n.77-1962C>A) | |
16 | g.51139515A>C | CA395884062 | SALL1 | c.2707T>G (p.Ser903Ala) c.2416T>G (p.Ser806Ala) c.77-1963T>G (n.77-1963T>G) | |
16 | g.51139515A>G | CA395884063 | SALL1 | c.2707T>C (p.Ser903Pro) c.2416T>C (p.Ser806Pro) c.77-1963T>C (n.77-1963T>C) | gnomAD v4 COSMIC |
16 | g.51139515A>T | CA395884064 | SALL1 | c.2707T>A (p.Ser903Thr) c.2416T>A (p.Ser806Thr) c.77-1963T>A (n.77-1963T>A) | gnomAD v4 |
16 | g.51139516T>A | CA495780252 | SALL1 | c.2706A>T (p.Ser902=) c.2415A>T (p.Ser805=) c.77-1964A>T (n.77-1964A>T) | |
16 | g.51139516T>C | CA495780253 | SALL1 | c.2706A>G (p.Ser902=) c.2415A>G (p.Ser805=) c.77-1964A>G (n.77-1964A>G) | |
16 | g.51139516T>G | CA495780254 | SALL1 | c.2706A>C (p.Ser902=) c.2415A>C (p.Ser805=) c.77-1964A>C (n.77-1964A>C) | |
16 | g.51139517G>A | CA395884065 | SALL1 | c.2705C>T (p.Ser902Leu) c.2414C>T (p.Ser805Leu) c.77-1965C>T (n.77-1965C>T) | gnomAD v4 |
16 | g.51139517G>C | CA395884066 | SALL1 | c.2705C>G (p.Ser902Ter) c.2414C>G (p.Ser805Ter) c.77-1965C>G (n.77-1965C>G) | |
16 | g.51139517G>T | CA395884067 | SALL1 | c.2705C>A (p.Ser902Ter) c.2414C>A (p.Ser805Ter) c.77-1965C>A (n.77-1965C>A) | |
16 | g.51139518A>C | CA395884068 | SALL1 | c.2704T>G (p.Ser902Ala) c.2413T>G (p.Ser805Ala) c.77-1966T>G (n.77-1966T>G) | |
16 | g.51139518A>G | CA395884069 | SALL1 | c.2704T>C (p.Ser902Pro) c.2413T>C (p.Ser805Pro) c.77-1966T>C (n.77-1966T>C) | |
16 | g.51139518A>T | CA395884070 | SALL1 | c.2704T>A (p.Ser902Thr) c.2413T>A (p.Ser805Thr) c.77-1966T>A (n.77-1966T>A) | |
16 | g.51139519A>C | CA395884071 | SALL1 | c.2703T>G (p.Asp901Glu) c.2412T>G (p.Asp804Glu) c.77-1967T>G (n.77-1967T>G) | |
16 | g.51139519A>G | CA495780255 | SALL1 | c.2703T>C (p.Asp901=) c.2412T>C (p.Asp804=) c.77-1967T>C (n.77-1967T>C) | |
16 | g.51139519A>T | CA395884072 | SALL1 | c.2703T>A (p.Asp901Glu) c.2412T>A (p.Asp804Glu) c.77-1967T>A (n.77-1967T>A) | |
16 | g.51139520T>A | CA395884073 | SALL1 | c.2702A>T (p.Asp901Val) c.2411A>T (p.Asp804Val) c.77-1968A>T (n.77-1968A>T) | |
16 | g.51139520T>C | CA395884075 | SALL1 | c.2702A>G (p.Asp901Gly) c.2411A>G (p.Asp804Gly) c.77-1968A>G (n.77-1968A>G) | |
16 | g.51139520T>G | CA395884074 | SALL1 | c.2702A>C (p.Asp901Ala) c.2411A>C (p.Asp804Ala) c.77-1968A>C (n.77-1968A>C) | |
16 | g.51139521C>A | CA395884076 | SALL1 | c.2701G>T (p.Asp901Tyr) c.2410G>T (p.Asp804Tyr) c.77-1969G>T (n.77-1969G>T) | |
16 | g.51139521C>G | CA395884078 | SALL1 | c.2701G>C (p.Asp901His) c.2410G>C (p.Asp804His) c.77-1969G>C (n.77-1969G>C) | |
16 | g.51139521C>T | CA395884077 | SALL1 | c.2701G>A (p.Asp901Asn) c.2410G>A (p.Asp804Asn) c.77-1969G>A (n.77-1969G>A) | |
16 | g.51139522A>C | CA395884079 | SALL1 | c.2700T>G (p.Asn900Lys) c.2409T>G (p.Asn803Lys) c.77-1970T>G (n.77-1970T>G) | |
16 | g.51139522A>G | CA495780256 | SALL1 | c.2700T>C (p.Asn900=) c.2409T>C (p.Asn803=) c.77-1970T>C (n.77-1970T>C) | |
16 | g.51139522A>T | CA395884080 | SALL1 | c.2700T>A (p.Asn900Lys) c.2409T>A (p.Asn803Lys) c.77-1970T>A (n.77-1970T>A) | |
16 | g.51139523T>A | CA395884081 | SALL1 | c.2699A>T (p.Asn900Ile) c.2408A>T (p.Asn803Ile) c.77-1971A>T (n.77-1971A>T) | |
16 | g.51139523T>C | CA395884082 | SALL1 | c.2699A>G (p.Asn900Ser) c.2408A>G (p.Asn803Ser) c.77-1971A>G (n.77-1971A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51139523T>G | CA395884083 | SALL1 | c.2699A>C (p.Asn900Thr) c.2408A>C (p.Asn803Thr) c.77-1971A>C (n.77-1971A>C) | |
16 | g.51139523T= | CA2222018179 | SALL1 | c.2699A= (p.Asn900=) c.2408A= (p.Asn803=) c.77-1971A= (n.77-1971A=) | |
16 | g.51139524T>A | CA395884084 | SALL1 | c.2698A>T (p.Asn900Tyr) c.2407A>T (p.Asn803Tyr) c.77-1972A>T (n.77-1972A>T) | |
16 | g.51139524T>C | CA395884085 | SALL1 | c.2698A>G (p.Asn900Asp) c.2407A>G (p.Asn803Asp) c.77-1972A>G (n.77-1972A>G) | COSMIC |
16 | g.51139524T>G | CA395884086 | SALL1 | c.2698A>C (p.Asn900His) c.2407A>C (p.Asn803His) c.77-1972A>C (n.77-1972A>C) | |
16 | g.51139525G>A | CA495780257 | SALL1 | c.2697C>T (p.Thr899=) c.2406C>T (p.Thr802=) c.77-1973C>T (n.77-1973C>T) | dbSNP |
16 | g.51139525G>C | CA495780258 | SALL1 | c.2697C>G (p.Thr899=) c.2406C>G (p.Thr802=) c.77-1973C>G (n.77-1973C>G) | gnomAD v4 |
16 | g.51139525G= | CA2222018182 | SALL1 | c.2697C= (p.Thr899=) c.2406C= (p.Thr802=) c.77-1973C= (n.77-1973C=) | |
16 | g.51139525G>T | CA495780259 | SALL1 | c.2697C>A (p.Thr899=) c.2406C>A (p.Thr802=) c.77-1973C>A (n.77-1973C>A) | gnomAD v4 |
16 | g.51139526G>A | CA395884087 | SALL1 | c.2696C>T (p.Thr899Ile) c.2405C>T (p.Thr802Ile) c.77-1974C>T (n.77-1974C>T) | dbSNP |
16 | g.51139526G>C | CA395884089 | SALL1 | c.2696C>G (p.Thr899Ser) c.2405C>G (p.Thr802Ser) c.77-1974C>G (n.77-1974C>G) | |
16 | g.51139526G= | CA2222018185 | SALL1 | c.2696C= (p.Thr899=) c.2405C= (p.Thr802=) c.77-1974C= (n.77-1974C=) | |
16 | g.51139526G>T | CA395884088 | SALL1 | c.2696C>A (p.Thr899Asn) c.2405C>A (p.Thr802Asn) c.77-1974C>A (n.77-1974C>A) | COSMIC |
16 | g.51139527T>A | CA395884090 | SALL1 | c.2695A>T (p.Thr899Ser) c.2404A>T (p.Thr802Ser) c.77-1975A>T (n.77-1975A>T) | |
16 | g.51139527T>C | CA395884091 | SALL1 | c.2695A>G (p.Thr899Ala) c.2404A>G (p.Thr802Ala) c.77-1975A>G (n.77-1975A>G) | |
16 | g.51139527T>G | CA395884092 | SALL1 | c.2695A>C (p.Thr899Pro) c.2404A>C (p.Thr802Pro) c.77-1975A>C (n.77-1975A>C) | |
16 | g.51139528del | CA645592650 | SALL1 | c.2694del (p.Thr899ProfsTer?) c.2403del (p.Thr802ProfsTer?) c.77-1976del (n.77-1976del) | COSMIC |
16 | g.51139528C>A | CA495780260 | SALL1 | c.2694G>T (p.Leu898=) c.2403G>T (p.Leu801=) c.77-1976G>T (n.77-1976G>T) | gnomAD v4 |
16 | g.51139528C= | CA2222018189 | SALL1 | c.2694G= (p.Leu898=) c.2403G= (p.Leu801=) c.77-1976G= (n.77-1976G=) | |
16 | g.51139528C>G | CA495780261 | SALL1 | c.2694G>C (p.Leu898=) c.2403G>C (p.Leu801=) c.77-1976G>C (n.77-1976G>C) | |
16 | g.51139528C>T | CA281301164 | SALL1 | c.2694G>A (p.Leu898=) c.2403G>A (p.Leu801=) c.77-1976G>A (n.77-1976G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51139529A>C | CA395884093 | SALL1 | c.2693T>G (p.Leu898Arg) c.2402T>G (p.Leu801Arg) c.77-1977T>G (n.77-1977T>G) | |
16 | g.51139529A>G | CA395884095 | SALL1 | c.2693T>C (p.Leu898Pro) c.2402T>C (p.Leu801Pro) c.77-1977T>C (n.77-1977T>C) | gnomAD v4 |
16 | g.51139529A>T | CA395884094 | SALL1 | c.2693T>A (p.Leu898Gln) c.2402T>A (p.Leu801Gln) c.77-1977T>A (n.77-1977T>A) | |
16 | g.51139530G>A | CA495780262 | SALL1 | c.2692C>T (p.Leu898=) c.2401C>T (p.Leu801=) c.77-1978C>T (n.77-1978C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51139530G>C | CA395884096 | SALL1 | c.2692C>G (p.Leu898Val) c.2401C>G (p.Leu801Val) c.77-1978C>G (n.77-1978C>G) | |
16 | g.51139530G= | CA2222018194 | SALL1 | c.2692C= (p.Leu898=) c.2401C= (p.Leu801=) c.77-1978C= (n.77-1978C=) | |
16 | g.51139530G>T | CA395884097 | SALL1 | c.2692C>A (p.Leu898Met) c.2401C>A (p.Leu801Met) c.77-1978C>A (n.77-1978C>A) | |
16 | g.51139531G>A | CA8053054 | SALL1 | c.2691C>T (p.Val897=) c.2400C>T (p.Val800=) c.77-1979C>T (n.77-1979C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.51139531G>C | CA495780264 | SALL1 | c.2691C>G (p.Val897=) c.2400C>G (p.Val800=) c.77-1979C>G (n.77-1979C>G) | |
16 | g.51139531G= | CA2222018199 | SALL1 | c.2691C= (p.Val897=) c.2400C= (p.Val800=) c.77-1979C= (n.77-1979C=) | |
16 | g.51139531G>T | CA495780263 | SALL1 | c.2691C>A (p.Val897=) c.2400C>A (p.Val800=) c.77-1979C>A (n.77-1979C>A) | |
16 | g.51139532A= | CA2222018203 | SALL1 | c.2690T= (p.Val897=) c.2399T= (p.Val800=) c.77-1980T= (n.77-1980T=) | |
16 | g.51139532A>C | CA395884098 | SALL1 | c.2690T>G (p.Val897Gly) c.2399T>G (p.Val800Gly) c.77-1980T>G (n.77-1980T>G) | |
16 | g.51139532A>G | CA395884099 | SALL1 | c.2690T>C (p.Val897Ala) c.2399T>C (p.Val800Ala) c.77-1980T>C (n.77-1980T>C) | |
16 | g.51139532A>T | CA395884100 | SALL1 | c.2690T>A (p.Val897Asp) c.2399T>A (p.Val800Asp) c.77-1980T>A (n.77-1980T>A) | |
16 | g.51139533C>A | CA395884101 | SALL1 | c.2689G>T (p.Val897Phe) c.2398G>T (p.Val800Phe) c.77-1981G>T (n.77-1981G>T) | |
16 | g.51139533C>G | CA395884102 | SALL1 | c.2689G>C (p.Val897Leu) c.2398G>C (p.Val800Leu) c.77-1981G>C (n.77-1981G>C) | |
16 | g.51139533C>T | CA395884103 | SALL1 | c.2689G>A (p.Val897Ile) c.2398G>A (p.Val800Ile) c.77-1981G>A (n.77-1981G>A) | |
16 | g.51139534_51139537dup | CA915949261 | SALL1 | c.2686_2689dup (p.Val897GlyfsTer6) c.2395_2398dup (p.Val800GlyfsTer6) c.77-1984_77-1981dup (n.77-1984_77-1981dup) | ClinVar dbSNP |
16 | g.51139534A>C | CA395884104 | SALL1 | c.2688T>G (p.Asp896Glu) c.2397T>G (p.Asp799Glu) c.77-1982T>G (n.77-1982T>G) | |
16 | g.51139534A>G | CA495780265 | SALL1 | c.2688T>C (p.Asp896=) c.2397T>C (p.Asp799=) c.77-1982T>C (n.77-1982T>C) | gnomAD v4 |
16 | g.51139534A>T | CA395884105 | SALL1 | c.2688T>A (p.Asp896Glu) c.2397T>A (p.Asp799Glu) c.77-1982T>A (n.77-1982T>A) | |
16 | g.51139535T>A | CA395884106 | SALL1 | c.2687A>T (p.Asp896Val) c.2396A>T (p.Asp799Val) c.77-1983A>T (n.77-1983A>T) | |
16 | g.51139535T>C | CA395884108 | SALL1 | c.2687A>G (p.Asp896Gly) c.2396A>G (p.Asp799Gly) c.77-1983A>G (n.77-1983A>G) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.51139535T>G | CA395884107 | SALL1 | c.2687A>C (p.Asp896Ala) c.2396A>C (p.Asp799Ala) c.77-1983A>C (n.77-1983A>C) | |
16 | g.51139535T= | CA2222018215 | SALL1 | c.2687A= (p.Asp896=) c.2396A= (p.Asp799=) c.77-1983A= (n.77-1983A=) | |
16 | g.51139536C>A | CA395884109 | SALL1 | c.2686G>T (p.Asp896Tyr) c.2395G>T (p.Asp799Tyr) c.77-1984G>T (n.77-1984G>T) | |
16 | g.51139536C>G | CA395884110 | SALL1 | c.2686G>C (p.Asp896His) c.2395G>C (p.Asp799His) c.77-1984G>C (n.77-1984G>C) | |
16 | g.51139536C>T | CA395884111 | SALL1 | c.2686G>A (p.Asp896Asn) c.2395G>A (p.Asp799Asn) c.77-1984G>A (n.77-1984G>A) | COSMIC |
16 | g.51139540del | CA645592651 | SALL1 | c.2686del (p.Asp896MetfsTer3) c.2395del (p.Asp799MetfsTer3) c.77-1984del (n.77-1984del) | COSMIC |
16 | g.51139537C>A | CA8053055 | SALL1 | c.2685G>T (p.Gly895=) c.2394G>T (p.Gly798=) c.77-1985G>T (n.77-1985G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.51139537C= | CA2222018220 | SALL1 | c.2685G= (p.Gly895=) c.2394G= (p.Gly798=) c.77-1985G= (n.77-1985G=) | |
16 | g.51139537C>G | CA495780267 | SALL1 | c.2685G>C (p.Gly895=) c.2394G>C (p.Gly798=) c.77-1985G>C (n.77-1985G>C) | |
16 | g.51139537C>T | CA495780266 | SALL1 | c.2685G>A (p.Gly895=) c.2394G>A (p.Gly798=) c.77-1985G>A (n.77-1985G>A) | |
16 | g.51139538C>A | CA395884112 | SALL1 | c.2684G>T (p.Gly895Val) c.2393G>T (p.Gly798Val) c.77-1986G>T (n.77-1986G>T) | COSMIC |
16 | g.51139538C>G | CA395884113 | SALL1 | c.2684G>C (p.Gly895Ala) c.2393G>C (p.Gly798Ala) c.77-1986G>C (n.77-1986G>C) | gnomAD v4 |
16 | g.51139538C>T | CA395884114 | SALL1 | c.2684G>A (p.Gly895Glu) c.2393G>A (p.Gly798Glu) c.77-1986G>A (n.77-1986G>A) | |
16 | g.51139539C>A | CA395884115 | SALL1 | c.2683G>T (p.Gly895Trp) c.2392G>T (p.Gly798Trp) c.77-1987G>T (n.77-1987G>T) | |
16 | g.51139539C= | CA2222018225 | SALL1 | c.2683G= (p.Gly895=) c.2392G= (p.Gly798=) c.77-1987G= (n.77-1987G=) | |
16 | g.51139539C>G | CA395884116 | SALL1 | c.2683G>C (p.Gly895Arg) c.2392G>C (p.Gly798Arg) c.77-1987G>C (n.77-1987G>C) | |
16 | g.51139539C>T | CA281301169 | SALL1 | c.2683G>A (p.Gly895Arg) c.2392G>A (p.Gly798Arg) c.77-1987G>A (n.77-1987G>A) | dbSNP |
16 | g.51139540C>A | CA395884117 | SALL1 | c.2682G>T (p.Glu894Asp) c.2391G>T (p.Glu797Asp) c.77-1988G>T (n.77-1988G>T) | |
16 | g.51139540C>G | CA395884118 | SALL1 | c.2682G>C (p.Glu894Asp) c.2391G>C (p.Glu797Asp) c.77-1988G>C (n.77-1988G>C) | |
16 | g.51139540C>T | CA495780268 | SALL1 | c.2682G>A (p.Glu894=) c.2391G>A (p.Glu797=) c.77-1988G>A (n.77-1988G>A) | gnomAD v4 |
16 | g.51139541T>A | CA395884121 | SALL1 | c.2681A>T (p.Glu894Val) c.2390A>T (p.Glu797Val) c.77-1989A>T (n.77-1989A>T) | |
16 | g.51139541T>C | CA395884119 | SALL1 | c.2681A>G (p.Glu894Gly) c.2390A>G (p.Glu797Gly) c.77-1989A>G (n.77-1989A>G) | |
16 | g.51139541T>G | CA395884120 | SALL1 | c.2681A>C (p.Glu894Ala) c.2390A>C (p.Glu797Ala) c.77-1989A>C (n.77-1989A>C) | |
16 | g.51139542C>A | CA395884122 | SALL1 | c.2680G>T (p.Glu894Ter) c.2389G>T (p.Glu797Ter) c.77-1990G>T (n.77-1990G>T) | |
16 | g.51139542C= | CA2222018231 | SALL1 | c.2680G= (p.Glu894=) c.2389G= (p.Glu797=) c.77-1990G= (n.77-1990G=) | |
16 | g.51139542C>G | CA395884123 | SALL1 | c.2680G>C (p.Glu894Gln) c.2389G>C (p.Glu797Gln) c.77-1990G>C (n.77-1990G>C) | |
16 | g.51139542C>T | CA8053056 | SALL1 | c.2680G>A (p.Glu894Lys) c.2389G>A (p.Glu797Lys) c.77-1990G>A (n.77-1990G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51139543G>A | CA8053057 | SALL1 | c.2679C>T (p.Ile893=) c.2388C>T (p.Ile796=) c.77-1991C>T (n.77-1991C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51139543G>C | CA395884124 | SALL1 | c.2679C>G (p.Ile893Met) c.2388C>G (p.Ile796Met) c.77-1991C>G (n.77-1991C>G) | |
16 | g.51139543G= | CA2222018236 | SALL1 | c.2679C= (p.Ile893=) c.2388C= (p.Ile796=) c.77-1991C= (n.77-1991C=) | |
16 | g.51139543G>T | CA495780269 | SALL1 | c.2679C>A (p.Ile893=) c.2388C>A (p.Ile796=) c.77-1991C>A (n.77-1991C>A) | |
16 | g.51139544A>C | CA395884125 | SALL1 | c.2678T>G (p.Ile893Ser) c.2387T>G (p.Ile796Ser) c.77-1992T>G (n.77-1992T>G) | |
16 | g.51139544A>G | CA395884126 | SALL1 | c.2678T>C (p.Ile893Thr) c.2387T>C (p.Ile796Thr) c.77-1992T>C (n.77-1992T>C) | |
16 | g.51139544A>T | CA395884127 | SALL1 | c.2678T>A (p.Ile893Asn) c.2387T>A (p.Ile796Asn) c.77-1992T>A (n.77-1992T>A) | |
16 | g.51139545T>A | CA395884128 | SALL1 | c.2677A>T (p.Ile893Phe) c.2386A>T (p.Ile796Phe) c.77-1993A>T (n.77-1993A>T) | gnomAD v4 |
16 | g.51139545T>C | CA395884129 | SALL1 | c.2677A>G (p.Ile893Val) c.2386A>G (p.Ile796Val) c.77-1993A>G (n.77-1993A>G) | dbSNP |
16 | g.51139545T>G | CA395884130 | SALL1 | c.2677A>C (p.Ile893Leu) c.2386A>C (p.Ile796Leu) c.77-1993A>C (n.77-1993A>C) | |
16 | g.51139545T= | CA2222018240 | SALL1 | c.2677A= (p.Ile893=) c.2386A= (p.Ile796=) c.77-1993A= (n.77-1993A=) | |
16 | g.51139546G>A | CA495780270 | SALL1 | c.2676C>T (p.Ser892=) c.2385C>T (p.Ser795=) c.77-1994C>T (n.77-1994C>T) | gnomAD v4 |
16 | g.51139546G>C | CA495780271 | SALL1 | c.2676C>G (p.Ser892=) c.2385C>G (p.Ser795=) c.77-1994C>G (n.77-1994C>G) | |
16 | g.51139546G>T | CA495780272 | SALL1 | c.2676C>A (p.Ser892=) c.2385C>A (p.Ser795=) c.77-1994C>A (n.77-1994C>A) | |
16 | g.51139547G>A | CA395884133 | SALL1 | c.2675C>T (p.Ser892Phe) c.2384C>T (p.Ser795Phe) c.77-1995C>T (n.77-1995C>T) | dbSNP gnomAD v4 |
16 | g.51139547G>C | CA395884132 | SALL1 | c.2675C>G (p.Ser892Cys) c.2384C>G (p.Ser795Cys) c.77-1995C>G (n.77-1995C>G) | |
16 | g.51139547G= | CA2222018245 | SALL1 | c.2675C= (p.Ser892=) c.2384C= (p.Ser795=) c.77-1995C= (n.77-1995C=) | |
16 | g.51139547G>T | CA395884131 | SALL1 | c.2675C>A (p.Ser892Tyr) c.2384C>A (p.Ser795Tyr) c.77-1995C>A (n.77-1995C>A) | |
16 | g.51139548A= | CA2222018252 | SALL1 | c.2674T= (p.Ser892=) c.2383T= (p.Ser795=) c.77-1996T= (n.77-1996T=) | |
16 | g.51139548A>C | CA395884134 | SALL1 | c.2674T>G (p.Ser892Ala) c.2383T>G (p.Ser795Ala) c.77-1996T>G (n.77-1996T>G) | |
16 | g.51139548A>G | CA8053058 | SALL1 | c.2674T>C (p.Ser892Pro) c.2383T>C (p.Ser795Pro) c.77-1996T>C (n.77-1996T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.51139548A>T | CA395884135 | SALL1 | c.2674T>A (p.Ser892Thr) c.2383T>A (p.Ser795Thr) c.77-1996T>A (n.77-1996T>A) | |
16 | g.51139549C>A | CA8053059 | SALL1 | c.2673G>T (p.Gly891=) c.2382G>T (p.Gly794=) c.77-1997G>T (n.77-1997G>T) | dbSNP ExAC gnomAD v2 |
16 | g.51139549C= | CA2222018256 | SALL1 | c.2673G= (p.Gly891=) c.2382G= (p.Gly794=) c.77-1997G= (n.77-1997G=) | |
16 | g.51139549C>G | CA495780273 | SALL1 | c.2673G>C (p.Gly891=) c.2382G>C (p.Gly794=) c.77-1997G>C (n.77-1997G>C) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.51139549C>T | CA495780274 | SALL1 | c.2673G>A (p.Gly891=) c.2382G>A (p.Gly794=) c.77-1997G>A (n.77-1997G>A) | |
16 | g.51139550C>A | CA395884136 | SALL1 | c.2672G>T (p.Gly891Val) c.2381G>T (p.Gly794Val) c.77-1998G>T (n.77-1998G>T) | COSMIC |
16 | g.51139550C= | CA2222018260 | SALL1 | c.2672G= (p.Gly891=) c.2381G= (p.Gly794=) c.77-1998G= (n.77-1998G=) | |
16 | g.51139550C>G | CA395884137 | SALL1 | c.2672G>C (p.Gly891Ala) c.2381G>C (p.Gly794Ala) c.77-1998G>C (n.77-1998G>C) | |
16 | g.51139550C>T | CA395884138 | SALL1 | c.2672G>A (p.Gly891Glu) c.2381G>A (p.Gly794Glu) c.77-1998G>A (n.77-1998G>A) | dbSNP |
16 | g.51139551C>A | CA8053060 | SALL1 | c.2671G>T (p.Gly891Trp) c.2380G>T (p.Gly794Trp) c.77-1999G>T (n.77-1999G>T) | dbSNP ExAC gnomAD v4 |
16 | g.51139551C= | CA2222018264 | SALL1 | c.2671G= (p.Gly891=) c.2380G= (p.Gly794=) c.77-1999G= (n.77-1999G=) | |
16 | g.51139551C>G | CA395884139 | SALL1 | c.2671G>C (p.Gly891Arg) c.2380G>C (p.Gly794Arg) c.77-1999G>C (n.77-1999G>C) | |
16 | g.51139551C>T | CA395884140 | SALL1 | c.2671G>A (p.Gly891Arg) c.2380G>A (p.Gly794Arg) c.77-1999G>A (n.77-1999G>A) | |
16 | g.51139552A= | CA2222018267 | SALL1 | c.2670T= (p.Asn890=) c.2379T= (p.Asn793=) c.77-2000T= (n.77-2000T=) | |
16 | g.51139552A>C | CA395884141 | SALL1 | c.2670T>G (p.Asn890Lys) c.2379T>G (p.Asn793Lys) c.77-2000T>G (n.77-2000T>G) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.51139552A>G | CA495780275 | SALL1 | c.2670T>C (p.Asn890=) c.2379T>C (p.Asn793=) c.77-2000T>C (n.77-2000T>C) | |
16 | g.51139552A>T | CA395884142 | SALL1 | c.2670T>A (p.Asn890Lys) c.2379T>A (p.Asn793Lys) c.77-2000T>A (n.77-2000T>A) | |
16 | g.51139553T>A | CA395884143 | SALL1 | c.2669A>T (p.Asn890Ile) c.2378A>T (p.Asn793Ile) c.77-2001A>T (n.77-2001A>T) | |
16 | g.51139553T>C | CA395884144 | SALL1 | c.2669A>G (p.Asn890Ser) c.2378A>G (p.Asn793Ser) c.77-2001A>G (n.77-2001A>G) | gnomAD v4 |
16 | g.51139553T>G | CA395884145 | SALL1 | c.2669A>C (p.Asn890Thr) c.2378A>C (p.Asn793Thr) c.77-2001A>C (n.77-2001A>C) | |
16 | g.51139554T>A | CA395884148 | SALL1 | c.2668A>T (p.Asn890Tyr) c.2377A>T (p.Asn793Tyr) c.77-2002A>T (n.77-2002A>T) | |
16 | g.51139554T>C | CA395884146 | SALL1 | c.2668A>G (p.Asn890Asp) c.2377A>G (p.Asn793Asp) c.77-2002A>G (n.77-2002A>G) | |
16 | g.51139554T>G | CA395884147 | SALL1 | c.2668A>C (p.Asn890His) c.2377A>C (p.Asn793His) c.77-2002A>C (n.77-2002A>C) | |
16 | g.51139555C>A | CA395884149 | SALL1 | c.2667G>T (p.Glu889Asp) c.2376G>T (p.Glu792Asp) c.77-2003G>T (n.77-2003G>T) | |
16 | g.51139555C= | CA2222018270 | SALL1 | c.2667G= (p.Glu889=) c.2376G= (p.Glu792=) c.77-2003G= (n.77-2003G=) | |
16 | g.51139555C>G | CA395884150 | SALL1 | c.2667G>C (p.Glu889Asp) c.2376G>C (p.Glu792Asp) c.77-2003G>C (n.77-2003G>C) | |
16 | g.51139555C>T | CA495780276 | SALL1 | c.2667G>A (p.Glu889=) c.2376G>A (p.Glu792=) c.77-2003G>A (n.77-2003G>A) | dbSNP gnomAD v4 |
16 | g.51139556T>A | CA395884151 | SALL1 | c.2666A>T (p.Glu889Val) c.2375A>T (p.Glu792Val) c.77-2004A>T (n.77-2004A>T) | |
16 | g.51139556T>C | CA395884152 | SALL1 | c.2666A>G (p.Glu889Gly) c.2375A>G (p.Glu792Gly) c.77-2004A>G (n.77-2004A>G) | |
16 | g.51139556T>G | CA395884153 | SALL1 | c.2666A>C (p.Glu889Ala) c.2375A>C (p.Glu792Ala) c.77-2004A>C (n.77-2004A>C) | |
16 | g.51139557C>A | CA395884154 | SALL1 | c.2665G>T (p.Glu889Ter) c.2374G>T (p.Glu792Ter) c.77-2005G>T (n.77-2005G>T) | |
16 | g.51139557C= | CA2222018274 | SALL1 | c.2665G= (p.Glu889=) c.2374G= (p.Glu792=) c.77-2005G= (n.77-2005G=) | |
16 | g.51139557C>G | CA395884155 | SALL1 | c.2665G>C (p.Glu889Gln) c.2374G>C (p.Glu792Gln) c.77-2005G>C (n.77-2005G>C) | |
16 | g.51139557C>T | CA395884156 | SALL1 | c.2665G>A (p.Glu889Lys) c.2374G>A (p.Glu792Lys) c.77-2005G>A (n.77-2005G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51139558C>A | CA495780277 | SALL1 | c.2664G>T (p.Val888=) c.2373G>T (p.Val791=) c.77-2006G>T (n.77-2006G>T) | |
16 | g.51139558C>G | CA495780279 | SALL1 | c.2664G>C (p.Val888=) c.2373G>C (p.Val791=) c.77-2006G>C (n.77-2006G>C) | |
16 | g.51139558C>T | CA495780278 | SALL1 | c.2664G>A (p.Val888=) c.2373G>A (p.Val791=) c.77-2006G>A (n.77-2006G>A) | |
16 | g.51139559A>C | CA395884157 | SALL1 | c.2663T>G (p.Val888Gly) c.2372T>G (p.Val791Gly) c.77-2007T>G (n.77-2007T>G) | |
16 | g.51139559A>G | CA395884158 | SALL1 | c.2663T>C (p.Val888Ala) c.2372T>C (p.Val791Ala) c.77-2007T>C (n.77-2007T>C) | |
16 | g.51139559A>T | CA395884159 | SALL1 | c.2663T>A (p.Val888Glu) c.2372T>A (p.Val791Glu) c.77-2007T>A (n.77-2007T>A) | |
16 | g.51139560C>A | CA395884162 | SALL1 | c.2662G>T (p.Val888Leu) c.2371G>T (p.Val791Leu) c.77-2008G>T (n.77-2008G>T) | |
16 | g.51139560C>G | CA395884161 | SALL1 | c.2662G>C (p.Val888Leu) c.2371G>C (p.Val791Leu) c.77-2008G>C (n.77-2008G>C) | |
16 | g.51139560C>T | CA395884160 | SALL1 | c.2662G>A (p.Val888Met) c.2371G>A (p.Val791Met) c.77-2008G>A (n.77-2008G>A) | |
16 | g.51139561T>A | CA495780280 | SALL1 | c.2661A>T (p.Ser887=) c.2370A>T (p.Ser790=) c.77-2009A>T (n.77-2009A>T) | |
16 | g.51139561T>C | CA495780281 | SALL1 | c.2661A>G (p.Ser887=) c.2370A>G (p.Ser790=) c.77-2009A>G (n.77-2009A>G) | |
16 | g.51139561T>G | CA495780282 | SALL1 | c.2661A>C (p.Ser887=) c.2370A>C (p.Ser790=) c.77-2009A>C (n.77-2009A>C) | |
16 | g.51139562G>A | CA395884163 | SALL1 | c.2660C>T (p.Ser887Leu) c.2369C>T (p.Ser790Leu) c.77-2010C>T (n.77-2010C>T) | |
16 | g.51139562G>C | CA395884164 | SALL1 | c.2660C>G (p.Ser887Ter) c.2369C>G (p.Ser790Ter) c.77-2010C>G (n.77-2010C>G) | |
16 | g.51139562G>T | CA395884165 | SALL1 | c.2660C>A (p.Ser887Ter) c.2369C>A (p.Ser790Ter) c.77-2010C>A (n.77-2010C>A) | |
16 | g.51139563A>C | CA395884166 | SALL1 | c.2659T>G (p.Ser887Ala) c.2368T>G (p.Ser790Ala) c.77-2011T>G (n.77-2011T>G) | |
16 | g.51139563A>G | CA395884167 | SALL1 | c.2659T>C (p.Ser887Pro) c.2368T>C (p.Ser790Pro) c.77-2011T>C (n.77-2011T>C) | |
16 | g.51139563A>T | CA395884168 | SALL1 | c.2659T>A (p.Ser887Thr) c.2368T>A (p.Ser790Thr) c.77-2011T>A (n.77-2011T>A) | |
16 | g.51139564C>A | CA395884170 | SALL1 | c.2658G>T (p.Lys886Asn) c.2367G>T (p.Lys789Asn) c.77-2012G>T (n.77-2012G>T) | |
16 | g.51139564C>G | CA395884169 | SALL1 | c.2658G>C (p.Lys886Asn) c.2367G>C (p.Lys789Asn) c.77-2012G>C (n.77-2012G>C) | |
16 | g.51139564C>T | CA495780283 | SALL1 | c.2658G>A (p.Lys886=) c.2367G>A (p.Lys789=) c.77-2012G>A (n.77-2012G>A) | |
16 | g.51139565T>A | CA395884171 | SALL1 | c.2657A>T (p.Lys886Met) c.2366A>T (p.Lys789Met) c.77-2013A>T (n.77-2013A>T) | |
16 | g.51139565T>C | CA395884172 | SALL1 | c.2657A>G (p.Lys886Arg) c.2366A>G (p.Lys789Arg) c.77-2013A>G (n.77-2013A>G) | |
16 | g.51139565T>G | CA395884173 | SALL1 | c.2657A>C (p.Lys886Thr) c.2366A>C (p.Lys789Thr) c.77-2013A>C (n.77-2013A>C) | |
16 | g.51139566T>A | CA395884174 | SALL1 | c.2656A>T (p.Lys886Ter) c.2365A>T (p.Lys789Ter) c.77-2014A>T (n.77-2014A>T) | |
16 | g.51139566T>C | CA395884175 | SALL1 | c.2656A>G (p.Lys886Glu) c.2365A>G (p.Lys789Glu) c.77-2014A>G (n.77-2014A>G) | |
16 | g.51139566T>G | CA395884176 | SALL1 | c.2656A>C (p.Lys886Gln) c.2365A>C (p.Lys789Gln) c.77-2014A>C (n.77-2014A>C) | |
16 | g.51139567C>A | CA495780284 | SALL1 | c.2655G>T (p.Leu885=) c.2364G>T (p.Leu788=) c.77-2015G>T (n.77-2015G>T) | |
16 | g.51139567C>G | CA495780285 | SALL1 | c.2655G>C (p.Leu885=) c.2364G>C (p.Leu788=) c.77-2015G>C (n.77-2015G>C) | |
16 | g.51139567C>T | CA495780286 | SALL1 | c.2655G>A (p.Leu885=) c.2364G>A (p.Leu788=) c.77-2015G>A (n.77-2015G>A) | |
16 | g.51139568A>C | CA395884177 | SALL1 | c.2654T>G (p.Leu885Arg) c.2363T>G (p.Leu788Arg) c.77-2016T>G (n.77-2016T>G) | |
16 | g.51139568A>G | CA395884179 | SALL1 | c.2654T>C (p.Leu885Pro) c.2363T>C (p.Leu788Pro) c.77-2016T>C (n.77-2016T>C) | |
16 | g.51139568A>T | CA395884178 | SALL1 | c.2654T>A (p.Leu885Gln) c.2363T>A (p.Leu788Gln) c.77-2016T>A (n.77-2016T>A) | |
16 | g.51139569G>A | CA495780287 | SALL1 | c.2653C>T (p.Leu885=) c.2362C>T (p.Leu788=) c.77-2017C>T (n.77-2017C>T) | |
16 | g.51139569G>C | CA395884180 | SALL1 | c.2653C>G (p.Leu885Val) c.2362C>G (p.Leu788Val) c.77-2017C>G (n.77-2017C>G) | |
16 | g.51139569G>T | CA395884181 | SALL1 | c.2653C>A (p.Leu885Met) c.2362C>A (p.Leu788Met) c.77-2017C>A (n.77-2017C>A) | |
16 | g.51139570G>A | CA495780288 | SALL1 | c.2652C>T (p.Ser884=) c.2361C>T (p.Ser787=) c.77-2018C>T (n.77-2018C>T) | |
16 | g.51139570G>C | CA395884182 | SALL1 | c.2652C>G (p.Ser884Arg) c.2361C>G (p.Ser787Arg) c.77-2018C>G (n.77-2018C>G) | |
16 | g.51139570G>T | CA395884183 | SALL1 | c.2652C>A (p.Ser884Arg) c.2361C>A (p.Ser787Arg) c.77-2018C>A (n.77-2018C>A) | |
16 | g.51139571C>A | CA395884184 | SALL1 | c.2651G>T (p.Ser884Ile) c.2360G>T (p.Ser787Ile) c.77-2019G>T (n.77-2019G>T) | |
16 | g.51139571C>G | CA395884185 | SALL1 | c.2651G>C (p.Ser884Thr) c.2360G>C (p.Ser787Thr) c.77-2019G>C (n.77-2019G>C) | |
16 | g.51139571C>T | CA395884186 | SALL1 | c.2651G>A (p.Ser884Asn) c.2360G>A (p.Ser787Asn) c.77-2019G>A (n.77-2019G>A) | gnomAD v4 |
16 | g.51139572T>A | CA395884187 | SALL1 | c.2650A>T (p.Ser884Cys) c.2359A>T (p.Ser787Cys) c.77-2020A>T (n.77-2020A>T) | |
16 | g.51139572T>C | CA395884188 | SALL1 | c.2650A>G (p.Ser884Gly) c.2359A>G (p.Ser787Gly) c.77-2020A>G (n.77-2020A>G) | |
16 | g.51139572T>G | CA395884189 | SALL1 | c.2650A>C (p.Ser884Arg) c.2359A>C (p.Ser787Arg) c.77-2020A>C (n.77-2020A>C) | |
16 | g.51139573G>A | CA495780291 | SALL1 | c.2649C>T (p.Ala883=) c.2358C>T (p.Ala786=) c.77-2021C>T (n.77-2021C>T) | |
16 | g.51139573G>C | CA495780289 | SALL1 | c.2649C>G (p.Ala883=) c.2358C>G (p.Ala786=) c.77-2021C>G (n.77-2021C>G) | |
16 | g.51139573G>T | CA495780290 | SALL1 | c.2649C>A (p.Ala883=) c.2358C>A (p.Ala786=) c.77-2021C>A (n.77-2021C>A) | gnomAD v4 |
16 | g.51139574G>A | CA395884190 | SALL1 | c.2648C>T (p.Ala883Val) c.2357C>T (p.Ala786Val) c.77-2022C>T (n.77-2022C>T) | |
16 | g.51139574G>C | CA395884192 | SALL1 | c.2648C>G (p.Ala883Gly) c.2357C>G (p.Ala786Gly) c.77-2022C>G (n.77-2022C>G) | |
16 | g.51139574G>T | CA395884191 | SALL1 | c.2648C>A (p.Ala883Asp) c.2357C>A (p.Ala786Asp) c.77-2022C>A (n.77-2022C>A) | |
16 | g.51139575C>A | CA395884193 | SALL1 | c.2647G>T (p.Ala883Ser) c.2356G>T (p.Ala786Ser) c.77-2023G>T (n.77-2023G>T) | |
16 | g.51139575C>G | CA395884195 | SALL1 | c.2647G>C (p.Ala883Pro) c.2356G>C (p.Ala786Pro) c.77-2023G>C (n.77-2023G>C) | |
16 | g.51139575C>T | CA395884194 | SALL1 | c.2647G>A (p.Ala883Thr) c.2356G>A (p.Ala786Thr) c.77-2023G>A (n.77-2023G>A) | |
16 | g.51139576C>A | CA395884196 | SALL1 | c.2646G>T (p.Gln882His) c.2355G>T (p.Gln785His) c.77-2024G>T (n.77-2024G>T) | |
16 | g.51139576C>G | CA395884197 | SALL1 | c.2646G>C (p.Gln882His) c.2355G>C (p.Gln785His) c.77-2024G>C (n.77-2024G>C) | gnomAD v4 |
16 | g.51139576C>T | CA495780292 | SALL1 | c.2646G>A (p.Gln882=) c.2355G>A (p.Gln785=) c.77-2024G>A (n.77-2024G>A) | |
16 | g.51139577T>A | CA8053061 | SALL1 | c.2645A>T (p.Gln882Leu) c.2354A>T (p.Gln785Leu) c.77-2025A>T (n.77-2025A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51139577T>C | CA395884199 | SALL1 | c.2645A>G (p.Gln882Arg) c.2354A>G (p.Gln785Arg) c.77-2025A>G (n.77-2025A>G) | |
16 | g.51139577T>G | CA395884198 | SALL1 | c.2645A>C (p.Gln882Pro) c.2354A>C (p.Gln785Pro) c.77-2025A>C (n.77-2025A>C) | |
16 | g.51139577T= | CA2222018280 | SALL1 | c.2645A= (p.Gln882=) c.2354A= (p.Gln785=) c.77-2025A= (n.77-2025A=) |