Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.51139343A>C | CA395883413 | SALL1 | c.2879T>G (p.Leu960Trp) c.2588T>G (p.Leu863Trp) c.77-1791T>G (n.77-1791T>G) | |
16 | g.51139343A>G | CA395883415 | SALL1 | c.2879T>C (p.Leu960Ser) c.2588T>C (p.Leu863Ser) c.77-1791T>C (n.77-1791T>C) | |
16 | g.51139343A>T | CA395883417 | SALL1 | c.2879T>A (p.Leu960Ter) c.2588T>A (p.Leu863Ter) c.77-1791T>A (n.77-1791T>A) | |
16 | g.51139344A>C | CA395883418 | SALL1 | c.2878T>G (p.Leu960Val) c.2587T>G (p.Leu863Val) c.77-1792T>G (n.77-1792T>G) | |
16 | g.51139344A>G | CA495780077 | SALL1 | c.2878T>C (p.Leu960=) c.2587T>C (p.Leu863=) c.77-1792T>C (n.77-1792T>C) | |
16 | g.51139344A>T | CA395883421 | SALL1 | c.2878T>A (p.Leu960Met) c.2587T>A (p.Leu863Met) c.77-1792T>A (n.77-1792T>A) | |
16 | g.51139345A>C | CA495780080 | SALL1 | c.2877T>G (p.Gly959=) c.2586T>G (p.Gly862=) c.77-1793T>G (n.77-1793T>G) | |
16 | g.51139345A>G | CA495780079 | SALL1 | c.2877T>C (p.Gly959=) c.2586T>C (p.Gly862=) c.77-1793T>C (n.77-1793T>C) | |
16 | g.51139345A>T | CA495780078 | SALL1 | c.2877T>A (p.Gly959=) c.2586T>A (p.Gly862=) c.77-1793T>A (n.77-1793T>A) | |
16 | g.51139346C>A | CA395883424 | SALL1 | c.2876G>T (p.Gly959Val) c.2585G>T (p.Gly862Val) c.77-1794G>T (n.77-1794G>T) | dbSNP |
16 | g.51139346C= | CA2222017801 | SALL1 | c.2876G= (p.Gly959=) c.2585G= (p.Gly862=) c.77-1794G= (n.77-1794G=) | |
16 | g.51139346C>G | CA395883426 | SALL1 | c.2876G>C (p.Gly959Ala) c.2585G>C (p.Gly862Ala) c.77-1794G>C (n.77-1794G>C) | |
16 | g.51139346C>T | CA395883427 | SALL1 | c.2876G>A (p.Gly959Asp) c.2585G>A (p.Gly862Asp) c.77-1794G>A (n.77-1794G>A) | |
16 | g.51139346_51139347insACAACCCAAACACACCCAACA | CA2807012904 | SALL1 | c.2875_2876insTGTTGGGTGTGTTTGGGTTGT (p.Gly959delinsValLeuGlyValPheGlyLeuCys) c.2584_2585insTGTTGGGTGTGTTTGGGTTGT (p.Gly862delinsValLeuGlyValPheGlyLeuCys) c.77-1795_77-1794insTGTTGGGTGTGTTTGGGTTGT (n.77-1795_77-1794insTGTTGGGTGTGTTTGGGTTGT) | |
16 | g.51139347C>A | CA395883430 | SALL1 | c.2875G>T (p.Gly959Cys) c.2584G>T (p.Gly862Cys) c.77-1795G>T (n.77-1795G>T) | gnomAD v4 |
16 | g.51139347C>G | CA395883434 | SALL1 | c.2875G>C (p.Gly959Arg) c.2584G>C (p.Gly862Arg) c.77-1795G>C (n.77-1795G>C) | |
16 | g.51139347C>T | CA395883432 | SALL1 | c.2875G>A (p.Gly959Ser) c.2584G>A (p.Gly862Ser) c.77-1795G>A (n.77-1795G>A) | |
16 | g.51139348A= | CA2222017805 | SALL1 | c.2874T= (p.Asn958=) c.2583T= (p.Asn861=) c.77-1796T= (n.77-1796T=) | |
16 | g.51139348A>C | CA395883436 | SALL1 | c.2874T>G (p.Asn958Lys) c.2583T>G (p.Asn861Lys) c.77-1796T>G (n.77-1796T>G) | |
16 | g.51139348A>G | CA495780081 | SALL1 | c.2874T>C (p.Asn958=) c.2583T>C (p.Asn861=) c.77-1796T>C (n.77-1796T>C) | dbSNP gnomAD v4 |
16 | g.51139348A>T | CA395883438 | SALL1 | c.2874T>A (p.Asn958Lys) c.2583T>A (p.Asn861Lys) c.77-1796T>A (n.77-1796T>A) | |
16 | g.51139349T>A | CA395883442 | SALL1 | c.2873A>T (p.Asn958Ile) c.2582A>T (p.Asn861Ile) c.77-1797A>T (n.77-1797A>T) | |
16 | g.51139349T>C | CA8053023 | SALL1 | c.2873A>G (p.Asn958Ser) c.2582A>G (p.Asn861Ser) c.77-1797A>G (n.77-1797A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51139349T>G | CA395883444 | SALL1 | c.2873A>C (p.Asn958Thr) c.2582A>C (p.Asn861Thr) c.77-1797A>C (n.77-1797A>C) | gnomAD v4 |
16 | g.51139349T= | CA2222017808 | SALL1 | c.2873A= (p.Asn958=) c.2582A= (p.Asn861=) c.77-1797A= (n.77-1797A=) | |
16 | g.51139350T>A | CA395883446 | SALL1 | c.2872A>T (p.Asn958Tyr) c.2581A>T (p.Asn861Tyr) c.77-1798A>T (n.77-1798A>T) | |
16 | g.51139350T>C | CA395883449 | SALL1 | c.2872A>G (p.Asn958Asp) c.2581A>G (p.Asn861Asp) c.77-1798A>G (n.77-1798A>G) | |
16 | g.51139350T>G | CA395883450 | SALL1 | c.2872A>C (p.Asn958His) c.2581A>C (p.Asn861His) c.77-1798A>C (n.77-1798A>C) | |
16 | g.51139351G>A | CA495780082 | SALL1 | c.2871C>T (p.Ala957=) c.2580C>T (p.Ala860=) c.77-1799C>T (n.77-1799C>T) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.51139351G>C | CA495780084 | SALL1 | c.2871C>G (p.Ala957=) c.2580C>G (p.Ala860=) c.77-1799C>G (n.77-1799C>G) | |
16 | g.51139351G= | CA2222017811 | SALL1 | c.2871C= (p.Ala957=) c.2580C= (p.Ala860=) c.77-1799C= (n.77-1799C=) | |
16 | g.51139351G>T | CA495780083 | SALL1 | c.2871C>A (p.Ala957=) c.2580C>A (p.Ala860=) c.77-1799C>A (n.77-1799C>A) | gnomAD v4 |
16 | g.51139352G>A | CA395883451 | SALL1 | c.2870C>T (p.Ala957Val) c.2579C>T (p.Ala860Val) c.77-1800C>T (n.77-1800C>T) | gnomAD v4 |
16 | g.51139352G>C | CA395883453 | SALL1 | c.2870C>G (p.Ala957Gly) c.2579C>G (p.Ala860Gly) c.77-1800C>G (n.77-1800C>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.51139352G= | CA2222017819 | SALL1 | c.2870C= (p.Ala957=) c.2579C= (p.Ala860=) c.77-1800C= (n.77-1800C=) | |
16 | g.51139352G>T | CA395883455 | SALL1 | c.2870C>A (p.Ala957Asp) c.2579C>A (p.Ala860Asp) c.77-1800C>A (n.77-1800C>A) | dbSNP gnomAD v4 |
16 | g.51139353C>A | CA395883458 | SALL1 | c.2869G>T (p.Ala957Ser) c.2578G>T (p.Ala860Ser) c.77-1801G>T (n.77-1801G>T) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.51139353C= | CA2222017822 | SALL1 | c.2869G= (p.Ala957=) c.2578G= (p.Ala860=) c.77-1801G= (n.77-1801G=) | |
16 | g.51139353C>G | CA395883459 | SALL1 | c.2869G>C (p.Ala957Pro) c.2578G>C (p.Ala860Pro) c.77-1801G>C (n.77-1801G>C) | |
16 | g.51139353C>T | CA395883461 | SALL1 | c.2869G>A (p.Ala957Thr) c.2578G>A (p.Ala860Thr) c.77-1801G>A (n.77-1801G>A) | |
16 | g.51139354A>C | CA395883463 | SALL1 | c.2868T>G (p.Phe956Leu) c.2577T>G (p.Phe859Leu) c.77-1802T>G (n.77-1802T>G) | |
16 | g.51139354A>G | CA495780085 | SALL1 | c.2868T>C (p.Phe956=) c.2577T>C (p.Phe859=) c.77-1802T>C (n.77-1802T>C) | |
16 | g.51139354A>T | CA395883465 | SALL1 | c.2868T>A (p.Phe956Leu) c.2577T>A (p.Phe859Leu) c.77-1802T>A (n.77-1802T>A) | |
16 | g.51139355A>C | CA395883468 | SALL1 | c.2867T>G (p.Phe956Cys) c.2576T>G (p.Phe859Cys) c.77-1803T>G (n.77-1803T>G) | |
16 | g.51139355A>G | CA395883469 | SALL1 | c.2867T>C (p.Phe956Ser) c.2576T>C (p.Phe859Ser) c.77-1803T>C (n.77-1803T>C) | |
16 | g.51139355A>T | CA395883471 | SALL1 | c.2867T>A (p.Phe956Tyr) c.2576T>A (p.Phe859Tyr) c.77-1803T>A (n.77-1803T>A) | |
16 | g.51139356A>C | CA395883474 | SALL1 | c.2866T>G (p.Phe956Val) c.2575T>G (p.Phe859Val) c.77-1804T>G (n.77-1804T>G) | |
16 | g.51139356A>G | CA395883475 | SALL1 | c.2866T>C (p.Phe956Leu) c.2575T>C (p.Phe859Leu) c.77-1804T>C (n.77-1804T>C) | |
16 | g.51139356A>T | CA395883477 | SALL1 | c.2866T>A (p.Phe956Ile) c.2575T>A (p.Phe859Ile) c.77-1804T>A (n.77-1804T>A) | |
16 | g.51139357C>A | CA395883479 | SALL1 | c.2865G>T (p.Glu955Asp) c.2574G>T (p.Glu858Asp) c.77-1805G>T (n.77-1805G>T) | gnomAD v4 |
16 | g.51139357C= | CA2222017823 | SALL1 | c.2865G= (p.Glu955=) c.2574G= (p.Glu858=) c.77-1805G= (n.77-1805G=) | |
16 | g.51139357C>G | CA395883481 | SALL1 | c.2865G>C (p.Glu955Asp) c.2574G>C (p.Glu858Asp) c.77-1805G>C (n.77-1805G>C) | gnomAD v4 |
16 | g.51139357C>T | CA495780086 | SALL1 | c.2865G>A (p.Glu955=) c.2574G>A (p.Glu858=) c.77-1805G>A (n.77-1805G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51139358T>A | CA395883484 | SALL1 | c.2864A>T (p.Glu955Val) c.2573A>T (p.Glu858Val) c.77-1806A>T (n.77-1806A>T) | |
16 | g.51139358T>C | CA395883485 | SALL1 | c.2864A>G (p.Glu955Gly) c.2573A>G (p.Glu858Gly) c.77-1806A>G (n.77-1806A>G) | COSMIC |
16 | g.51139358T>G | CA395883488 | SALL1 | c.2864A>C (p.Glu955Ala) c.2573A>C (p.Glu858Ala) c.77-1806A>C (n.77-1806A>C) | |
16 | g.51139359C>A | CA395883493 | SALL1 | c.2863G>T (p.Glu955Ter) c.2572G>T (p.Glu858Ter) c.77-1807G>T (n.77-1807G>T) | |
16 | g.51139359C= | CA2222017826 | SALL1 | c.2863G= (p.Glu955=) c.2572G= (p.Glu858=) c.77-1807G= (n.77-1807G=) | |
16 | g.51139359C>G | CA395883491 | SALL1 | c.2863G>C (p.Glu955Gln) c.2572G>C (p.Glu858Gln) c.77-1807G>C (n.77-1807G>C) | |
16 | g.51139359C>T | CA8053024 | SALL1 | c.2863G>A (p.Glu955Lys) c.2572G>A (p.Glu858Lys) c.77-1807G>A (n.77-1807G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51139360G>A | CA8053025 | SALL1 | c.2862C>T (p.Ser954=) c.2571C>T (p.Ser857=) c.77-1808C>T (n.77-1808C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.51139360G>C | CA395883498 | SALL1 | c.2862C>G (p.Ser954Arg) c.2571C>G (p.Ser857Arg) c.77-1808C>G (n.77-1808C>G) | |
16 | g.51139360G= | CA2222017830 | SALL1 | c.2862C= (p.Ser954=) c.2571C= (p.Ser857=) c.77-1808C= (n.77-1808C=) | |
16 | g.51139360G>T | CA395883496 | SALL1 | c.2862C>A (p.Ser954Arg) c.2571C>A (p.Ser857Arg) c.77-1808C>A (n.77-1808C>A) | |
16 | g.51139361C>A | CA395883500 | SALL1 | c.2861G>T (p.Ser954Ile) c.2570G>T (p.Ser857Ile) c.77-1809G>T (n.77-1809G>T) | |
16 | g.51139361C= | CA2222017832 | SALL1 | c.2861G= (p.Ser954=) c.2570G= (p.Ser857=) c.77-1809G= (n.77-1809G=) | |
16 | g.51139361C>G | CA395883504 | SALL1 | c.2861G>C (p.Ser954Thr) c.2570G>C (p.Ser857Thr) c.77-1809G>C (n.77-1809G>C) | |
16 | g.51139361C>T | CA395883503 | SALL1 | c.2861G>A (p.Ser954Asn) c.2570G>A (p.Ser857Asn) c.77-1809G>A (n.77-1809G>A) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.51139362T>A | CA395883508 | SALL1 | c.2860A>T (p.Ser954Cys) c.2569A>T (p.Ser857Cys) c.77-1810A>T (n.77-1810A>T) | |
16 | g.51139362T>C | CA395883511 | SALL1 | c.2860A>G (p.Ser954Gly) c.2569A>G (p.Ser857Gly) c.77-1810A>G (n.77-1810A>G) | |
16 | g.51139362T>G | CA395883509 | SALL1 | c.2860A>C (p.Ser954Arg) c.2569A>C (p.Ser857Arg) c.77-1810A>C (n.77-1810A>C) | |
16 | g.51139363del | CA2560705920 | SALL1 | c.2860del (p.Ser954AlafsTer12) c.2569del (p.Ser857AlafsTer12) c.77-1810del (n.77-1810del) | |
16 | g.51139363T>A | CA495780087 | SALL1 | c.2859A>T (p.Pro953=) c.2568A>T (p.Pro856=) c.77-1811A>T (n.77-1811A>T) | |
16 | g.51139363T>C | CA495780088 | SALL1 | c.2859A>G (p.Pro953=) c.2568A>G (p.Pro856=) c.77-1811A>G (n.77-1811A>G) | |
16 | g.51139363T>G | CA495780089 | SALL1 | c.2859A>C (p.Pro953=) c.2568A>C (p.Pro856=) c.77-1811A>C (n.77-1811A>C) | |
16 | g.51139364G>A | CA395883513 | SALL1 | c.2858C>T (p.Pro953Leu) c.2567C>T (p.Pro856Leu) c.77-1812C>T (n.77-1812C>T) | |
16 | g.51139364G>C | CA395883516 | SALL1 | c.2858C>G (p.Pro953Arg) c.2567C>G (p.Pro856Arg) c.77-1812C>G (n.77-1812C>G) | |
16 | g.51139364G>T | CA395883518 | SALL1 | c.2858C>A (p.Pro953Gln) c.2567C>A (p.Pro856Gln) c.77-1812C>A (n.77-1812C>A) | |
16 | g.51139365G>A | CA395883520 | SALL1 | c.2857C>T (p.Pro953Ser) c.2566C>T (p.Pro856Ser) c.77-1813C>T (n.77-1813C>T) | gnomAD v4 |
16 | g.51139365G>C | CA395883522 | SALL1 | c.2857C>G (p.Pro953Ala) c.2566C>G (p.Pro856Ala) c.77-1813C>G (n.77-1813C>G) | |
16 | g.51139365G= | CA2222017835 | SALL1 | c.2857C= (p.Pro953=) c.2566C= (p.Pro856=) c.77-1813C= (n.77-1813C=) | |
16 | g.51139365G>T | CA8053026 | SALL1 | c.2857C>A (p.Pro953Thr) c.2566C>A (p.Pro856Thr) c.77-1813C>A (n.77-1813C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.51139365_51139367del | CA2807012905 | SALL1 | c.2855_2857del (p.Val952_Pro953delinsAla) c.2564_2566del (p.Val855_Pro856delinsAla) c.77-1815_77-1813del (n.77-1815_77-1813del) | |
16 | g.51139366G>A | CA495780092 | SALL1 | c.2856C>T (p.Val952=) c.2565C>T (p.Val855=) c.77-1814C>T (n.77-1814C>T) | |
16 | g.51139366G>C | CA495780091 | SALL1 | c.2856C>G (p.Val952=) c.2565C>G (p.Val855=) c.77-1814C>G (n.77-1814C>G) | |
16 | g.51139366G>T | CA495780090 | SALL1 | c.2856C>A (p.Val952=) c.2565C>A (p.Val855=) c.77-1814C>A (n.77-1814C>A) | |
16 | g.51139367A>C | CA395883525 | SALL1 | c.2855T>G (p.Val952Gly) c.2564T>G (p.Val855Gly) c.77-1815T>G (n.77-1815T>G) | |
16 | g.51139367A>G | CA395883527 | SALL1 | c.2855T>C (p.Val952Ala) c.2564T>C (p.Val855Ala) c.77-1815T>C (n.77-1815T>C) | |
16 | g.51139367A>T | CA395883528 | SALL1 | c.2855T>A (p.Val952Asp) c.2564T>A (p.Val855Asp) c.77-1815T>A (n.77-1815T>A) | |
16 | g.51139368C>A | CA395883529 | SALL1 | c.2854G>T (p.Val952Phe) c.2563G>T (p.Val855Phe) c.77-1816G>T (n.77-1816G>T) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.51139368C= | CA2222017838 | SALL1 | c.2854G= (p.Val952=) c.2563G= (p.Val855=) c.77-1816G= (n.77-1816G=) | |
16 | g.51139368C>G | CA395883530 | SALL1 | c.2854G>C (p.Val952Leu) c.2563G>C (p.Val855Leu) c.77-1816G>C (n.77-1816G>C) | |
16 | g.51139368C>T | CA8053027 | SALL1 | c.2854G>A (p.Val952Ile) c.2563G>A (p.Val855Ile) c.77-1816G>A (n.77-1816G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.51139369C>A | CA495780093 | SALL1 | c.2853G>T (p.Ala951=) c.2562G>T (p.Ala854=) c.77-1817G>T (n.77-1817G>T) | |
16 | g.51139369C= | CA2222017842 | SALL1 | c.2853G= (p.Ala951=) c.2562G= (p.Ala854=) c.77-1817G= (n.77-1817G=) | |
16 | g.51139369C>G | CA495780094 | SALL1 | c.2853G>C (p.Ala951=) c.2562G>C (p.Ala854=) c.77-1817G>C (n.77-1817G>C) | gnomAD v4 COSMIC |
16 | g.51139369C>T | CA8053028 | SALL1 | c.2853G>A (p.Ala951=) c.2562G>A (p.Ala854=) c.77-1817G>A (n.77-1817G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.51139369_51139370insCCT | CA2807012906 | SALL1 | c.2852_2853insAGG (p.Ala951_Val952insGly) c.2561_2562insAGG (p.Ala854_Val855insGly) c.77-1818_77-1817insAGG (n.77-1818_77-1817insAGG) | |
16 | g.51139370G>A | CA8053029 | SALL1 | c.2852C>T (p.Ala951Val) c.2561C>T (p.Ala854Val) c.77-1818C>T (n.77-1818C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51139370G>C | CA395883535 | SALL1 | c.2852C>G (p.Ala951Gly) c.2561C>G (p.Ala854Gly) c.77-1818C>G (n.77-1818C>G) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.51139370G= | CA2222017849 | SALL1 | c.2852C= (p.Ala951=) c.2561C= (p.Ala854=) c.77-1818C= (n.77-1818C=) | |
16 | g.51139370G>T | CA395883538 | SALL1 | c.2852C>A (p.Ala951Glu) c.2561C>A (p.Ala854Glu) c.77-1818C>A (n.77-1818C>A) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.51139370dup | CA2567641251 | SALL1 | c.2852dup (p.Val952GlyfsTer24) c.2561dup (p.Val855GlyfsTer24) c.77-1818dup (n.77-1818dup) | |
16 | g.51139371C>A | CA395883541 | SALL1 | c.2851G>T (p.Ala951Ser) c.2560G>T (p.Ala854Ser) c.77-1819G>T (n.77-1819G>T) | dbSNP gnomAD v4 |
16 | g.51139371C= | CA2222017852 | SALL1 | c.2851G= (p.Ala951=) c.2560G= (p.Ala854=) c.77-1819G= (n.77-1819G=) | |
16 | g.51139371C>G | CA395883543 | SALL1 | c.2851G>C (p.Ala951Pro) c.2560G>C (p.Ala854Pro) c.77-1819G>C (n.77-1819G>C) | |
16 | g.51139371C>T | CA395883545 | SALL1 | c.2851G>A (p.Ala951Thr) c.2560G>A (p.Ala854Thr) c.77-1819G>A (n.77-1819G>A) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
16 | g.51139372T>A | CA395883547 | SALL1 | c.2850A>T (p.Arg950Ser) c.2559A>T (p.Arg853Ser) c.77-1820A>T (n.77-1820A>T) | |
16 | g.51139372T>C | CA495780095 | SALL1 | c.2850A>G (p.Arg950=) c.2559A>G (p.Arg853=) c.77-1820A>G (n.77-1820A>G) | |
16 | g.51139372T>G | CA395883549 | SALL1 | c.2850A>C (p.Arg950Ser) c.2559A>C (p.Arg853Ser) c.77-1820A>C (n.77-1820A>C) | |
16 | g.51139373C>A | CA395883550 | SALL1 | c.2849G>T (p.Arg950Ile) c.2558G>T (p.Arg853Ile) c.77-1821G>T (n.77-1821G>T) | |
16 | g.51139373C= | CA2222017855 | SALL1 | c.2849G= (p.Arg950=) c.2558G= (p.Arg853=) c.77-1821G= (n.77-1821G=) | |
16 | g.51139373C>G | CA8053030 | SALL1 | c.2849G>C (p.Arg950Thr) c.2558G>C (p.Arg853Thr) c.77-1821G>C (n.77-1821G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.51139373C>T | CA395883552 | SALL1 | c.2849G>A (p.Arg950Lys) c.2558G>A (p.Arg853Lys) c.77-1821G>A (n.77-1821G>A) | COSMIC |
16 | g.51139374T>A | CA395883554 | SALL1 | c.2848A>T (p.Arg950Ter) c.2557A>T (p.Arg853Ter) c.77-1822A>T (n.77-1822A>T) | |
16 | g.51139374T>C | CA395883555 | SALL1 | c.2848A>G (p.Arg950Gly) c.2557A>G (p.Arg853Gly) c.77-1822A>G (n.77-1822A>G) | |
16 | g.51139374T>G | CA495780096 | SALL1 | c.2848A>C (p.Arg950=) c.2557A>C (p.Arg853=) c.77-1822A>C (n.77-1822A>C) | |
16 | g.51139374_51139375insTA | CA2807012907 | SALL1 | c.2847_2848insTA (p.Arg950Ter) c.2556_2557insTA (p.Arg853Ter) c.77-1823_77-1822insTA (n.77-1823_77-1822insTA) | |
16 | g.51139375C>A | CA395883557 | SALL1 | c.2847G>T (p.Gln949His) c.2556G>T (p.Gln852His) c.77-1823G>T (n.77-1823G>T) | COSMIC |
16 | g.51139375C>G | CA395883558 | SALL1 | c.2847G>C (p.Gln949His) c.2556G>C (p.Gln852His) c.77-1823G>C (n.77-1823G>C) | |
16 | g.51139375C>T | CA495780097 | SALL1 | c.2847G>A (p.Gln949=) c.2556G>A (p.Gln852=) c.77-1823G>A (n.77-1823G>A) | gnomAD v4 |
16 | g.51139376T>A | CA395883562 | SALL1 | c.2846A>T (p.Gln949Leu) c.2555A>T (p.Gln852Leu) c.77-1824A>T (n.77-1824A>T) | dbSNP |
16 | g.51139376T>C | CA281301056 | SALL1 | c.2846A>G (p.Gln949Arg) c.2555A>G (p.Gln852Arg) c.77-1824A>G (n.77-1824A>G) | ClinVar dbSNP gnomAD v4 |
16 | g.51139376T>G | CA395883564 | SALL1 | c.2846A>C (p.Gln949Pro) c.2555A>C (p.Gln852Pro) c.77-1824A>C (n.77-1824A>C) | |
16 | g.51139376T= | CA2222017857 | SALL1 | c.2846A= (p.Gln949=) c.2555A= (p.Gln852=) c.77-1824A= (n.77-1824A=) | |
16 | g.51139378_51139379del | CA2807012908 | SALL1 | c.2845_2846del (p.Gln949GlufsTer26) c.2554_2555del (p.Gln852GlufsTer26) c.77-1825_77-1824del (n.77-1825_77-1824del) | |
16 | g.51139377G>A | CA395883568 | SALL1 | c.2845C>T (p.Gln949Ter) c.2554C>T (p.Gln852Ter) c.77-1825C>T (n.77-1825C>T) | |
16 | g.51139377G>C | CA395883571 | SALL1 | c.2845C>G (p.Gln949Glu) c.2554C>G (p.Gln852Glu) c.77-1825C>G (n.77-1825C>G) | |
16 | g.51139377G>T | CA395883573 | SALL1 | c.2845C>A (p.Gln949Lys) c.2554C>A (p.Gln852Lys) c.77-1825C>A (n.77-1825C>A) | COSMIC |
16 | g.51139378T>A | CA495780103 | SALL1 | c.2844A>T (p.Pro948=) c.2553A>T (p.Pro851=) c.77-1826A>T (n.77-1826A>T) | |
16 | g.51139378T>C | CA495780101 | SALL1 | c.2844A>G (p.Pro948=) c.2553A>G (p.Pro851=) c.77-1826A>G (n.77-1826A>G) | |
16 | g.51139378T>G | CA495780099 | SALL1 | c.2844A>C (p.Pro948=) c.2553A>C (p.Pro851=) c.77-1826A>C (n.77-1826A>C) | |
16 | g.51139379G>A | CA395883575 | SALL1 | c.2843C>T (p.Pro948Leu) c.2552C>T (p.Pro851Leu) c.77-1827C>T (n.77-1827C>T) | gnomAD v4 |
16 | g.51139379G>C | CA395883577 | SALL1 | c.2843C>G (p.Pro948Arg) c.2552C>G (p.Pro851Arg) c.77-1827C>G (n.77-1827C>G) | gnomAD v4 |
16 | g.51139379G>T | CA395883579 | SALL1 | c.2843C>A (p.Pro948Gln) c.2552C>A (p.Pro851Gln) c.77-1827C>A (n.77-1827C>A) | |
16 | g.51139380G>A | CA395883581 | SALL1 | c.2842C>T (p.Pro948Ser) c.2551C>T (p.Pro851Ser) c.77-1828C>T (n.77-1828C>T) | |
16 | g.51139380G>C | CA395883583 | SALL1 | c.2842C>G (p.Pro948Ala) c.2551C>G (p.Pro851Ala) c.77-1828C>G (n.77-1828C>G) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.51139380G= | CA2222017859 | SALL1 | c.2842C= (p.Pro948=) c.2551C= (p.Pro851=) c.77-1828C= (n.77-1828C=) | |
16 | g.51139380G>T | CA395883585 | SALL1 | c.2842C>A (p.Pro948Thr) c.2551C>A (p.Pro851Thr) c.77-1828C>A (n.77-1828C>A) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.51139381T>A | CA395883587 | SALL1 | c.2841A>T (p.Lys947Asn) c.2550A>T (p.Lys850Asn) c.77-1829A>T (n.77-1829A>T) | |
16 | g.51139381T>C | CA495780105 | SALL1 | c.2841A>G (p.Lys947=) c.2550A>G (p.Lys850=) c.77-1829A>G (n.77-1829A>G) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.51139381T>G | CA395883588 | SALL1 | c.2841A>C (p.Lys947Asn) c.2550A>C (p.Lys850Asn) c.77-1829A>C (n.77-1829A>C) | |
16 | g.51139381T= | CA2222017864 | SALL1 | c.2841A= (p.Lys947=) c.2550A= (p.Lys850=) c.77-1829A= (n.77-1829A=) | |
16 | g.51139382T>A | CA395883592 | SALL1 | c.2840A>T (p.Lys947Ile) c.2549A>T (p.Lys850Ile) c.77-1830A>T (n.77-1830A>T) | |
16 | g.51139382T>C | CA395883589 | SALL1 | c.2840A>G (p.Lys947Arg) c.2549A>G (p.Lys850Arg) c.77-1830A>G (n.77-1830A>G) | |
16 | g.51139382T>G | CA395883591 | SALL1 | c.2840A>C (p.Lys947Thr) c.2549A>C (p.Lys850Thr) c.77-1830A>C (n.77-1830A>C) | |
16 | g.51139383T>A | CA395883594 | SALL1 | c.2839A>T (p.Lys947Ter) c.2548A>T (p.Lys850Ter) c.77-1831A>T (n.77-1831A>T) | |
16 | g.51139383T>C | CA395883596 | SALL1 | c.2839A>G (p.Lys947Glu) c.2548A>G (p.Lys850Glu) c.77-1831A>G (n.77-1831A>G) | |
16 | g.51139383T>G | CA395883597 | SALL1 | c.2839A>C (p.Lys947Gln) c.2548A>C (p.Lys850Gln) c.77-1831A>C (n.77-1831A>C) | |
16 | g.51139384C>A | CA395883598 | SALL1 | c.2838G>T (p.Glu946Asp) c.2547G>T (p.Glu849Asp) c.77-1832G>T (n.77-1832G>T) | |
16 | g.51139384C>G | CA395883599 | SALL1 | c.2838G>C (p.Glu946Asp) c.2547G>C (p.Glu849Asp) c.77-1832G>C (n.77-1832G>C) | |
16 | g.51139384C>T | CA495780109 | SALL1 | c.2838G>A (p.Glu946=) c.2547G>A (p.Glu849=) c.77-1832G>A (n.77-1832G>A) | COSMIC |
16 | g.51139385T>A | CA395883601 | SALL1 | c.2837A>T (p.Glu946Val) c.2546A>T (p.Glu849Val) c.77-1833A>T (n.77-1833A>T) | |
16 | g.51139385T>C | CA395883602 | SALL1 | c.2837A>G (p.Glu946Gly) c.2546A>G (p.Glu849Gly) c.77-1833A>G (n.77-1833A>G) | dbSNP gnomAD v4 COSMIC |
16 | g.51139385T>G | CA395883604 | SALL1 | c.2837A>C (p.Glu946Ala) c.2546A>C (p.Glu849Ala) c.77-1833A>C (n.77-1833A>C) | |
16 | g.51139385T= | CA2222017867 | SALL1 | c.2837A= (p.Glu946=) c.2546A= (p.Glu849=) c.77-1833A= (n.77-1833A=) | |
16 | g.51139386C>A | CA395883606 | SALL1 | c.2836G>T (p.Glu946Ter) c.2545G>T (p.Glu849Ter) c.77-1834G>T (n.77-1834G>T) | |
16 | g.51139386C= | CA2222017873 | SALL1 | c.2836G= (p.Glu946=) c.2545G= (p.Glu849=) c.77-1834G= (n.77-1834G=) | |
16 | g.51139386C>G | CA395883608 | SALL1 | c.2836G>C (p.Glu946Gln) c.2545G>C (p.Glu849Gln) c.77-1834G>C (n.77-1834G>C) | |
16 | g.51139386C>T | CA8053031 | SALL1 | c.2836G>A (p.Glu946Lys) c.2545G>A (p.Glu849Lys) c.77-1834G>A (n.77-1834G>A) | dbSNP ExAC gnomAD v2 |
16 | g.51139387C>A | CA395883614 | SALL1 | c.2835G>T (p.Glu945Asp) c.2544G>T (p.Glu848Asp) c.77-1835G>T (n.77-1835G>T) | |
16 | g.51139387C>G | CA395883612 | SALL1 | c.2835G>C (p.Glu945Asp) c.2544G>C (p.Glu848Asp) c.77-1835G>C (n.77-1835G>C) | |
16 | g.51139387C>T | CA495780111 | SALL1 | c.2835G>A (p.Glu945=) c.2544G>A (p.Glu848=) c.77-1835G>A (n.77-1835G>A) | COSMIC |
16 | g.51139388T>A | CA395883616 | SALL1 | c.2834A>T (p.Glu945Val) c.2543A>T (p.Glu848Val) c.77-1836A>T (n.77-1836A>T) | |
16 | g.51139388T>C | CA395883620 | SALL1 | c.2834A>G (p.Glu945Gly) c.2543A>G (p.Glu848Gly) c.77-1836A>G (n.77-1836A>G) | gnomAD v4 |
16 | g.51139388T>G | CA395883618 | SALL1 | c.2834A>C (p.Glu945Ala) c.2543A>C (p.Glu848Ala) c.77-1836A>C (n.77-1836A>C) | |
16 | g.51139389C>A | CA395883622 | SALL1 | c.2833G>T (p.Glu945Ter) c.2542G>T (p.Glu848Ter) c.77-1837G>T (n.77-1837G>T) | |
16 | g.51139389C>G | CA395883624 | SALL1 | c.2833G>C (p.Glu945Gln) c.2542G>C (p.Glu848Gln) c.77-1837G>C (n.77-1837G>C) | |
16 | g.51139389C>T | CA395883626 | SALL1 | c.2833G>A (p.Glu945Lys) c.2542G>A (p.Glu848Lys) c.77-1837G>A (n.77-1837G>A) | |
16 | g.51139390A= | CA2222017876 | SALL1 | c.2832T= (p.Ile944=) c.2541T= (p.Ile847=) c.77-1838T= (n.77-1838T=) | |
16 | g.51139390A>C | CA395883627 | SALL1 | c.2832T>G (p.Ile944Met) c.2541T>G (p.Ile847Met) c.77-1838T>G (n.77-1838T>G) | |
16 | g.51139390A>G | CA495780117 | SALL1 | c.2832T>C (p.Ile944=) c.2541T>C (p.Ile847=) c.77-1838T>C (n.77-1838T>C) | dbSNP gnomAD v4 |
16 | g.51139390A>T | CA495780118 | SALL1 | c.2832T>A (p.Ile944=) c.2541T>A (p.Ile847=) c.77-1838T>A (n.77-1838T>A) | |
16 | g.51139391A= | CA2222017879 | SALL1 | c.2831T= (p.Ile944=) c.2540T= (p.Ile847=) c.77-1839T= (n.77-1839T=) | |
16 | g.51139391A>C | CA395883629 | SALL1 | c.2831T>G (p.Ile944Ser) c.2540T>G (p.Ile847Ser) c.77-1839T>G (n.77-1839T>G) | |
16 | g.51139391A>G | CA8053032 | SALL1 | c.2831T>C (p.Ile944Thr) c.2540T>C (p.Ile847Thr) c.77-1839T>C (n.77-1839T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51139391A>T | CA395883631 | SALL1 | c.2831T>A (p.Ile944Asn) c.2540T>A (p.Ile847Asn) c.77-1839T>A (n.77-1839T>A) | |
16 | g.51139392T>A | CA395883634 | SALL1 | c.2830A>T (p.Ile944Phe) c.2539A>T (p.Ile847Phe) c.77-1840A>T (n.77-1840A>T) | |
16 | g.51139392T>C | CA395883636 | SALL1 | c.2830A>G (p.Ile944Val) c.2539A>G (p.Ile847Val) c.77-1840A>G (n.77-1840A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51139392T>G | CA395883638 | SALL1 | c.2830A>C (p.Ile944Leu) c.2539A>C (p.Ile847Leu) c.77-1840A>C (n.77-1840A>C) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.51139392T= | CA2222017883 | SALL1 | c.2830A= (p.Ile944=) c.2539A= (p.Ile847=) c.77-1840A= (n.77-1840A=) | |
16 | g.51139393G>A | CA495780120 | SALL1 | c.2829C>T (p.Ser943=) c.2538C>T (p.Ser846=) c.77-1841C>T (n.77-1841C>T) | |
16 | g.51139393G>C | CA395883640 | SALL1 | c.2829C>G (p.Ser943Arg) c.2538C>G (p.Ser846Arg) c.77-1841C>G (n.77-1841C>G) | gnomAD v4 |
16 | g.51139393G>T | CA395883641 | SALL1 | c.2829C>A (p.Ser943Arg) c.2538C>A (p.Ser846Arg) c.77-1841C>A (n.77-1841C>A) | |
16 | g.51139394C>A | CA395883644 | SALL1 | c.2828G>T (p.Ser943Ile) c.2537G>T (p.Ser846Ile) c.77-1842G>T (n.77-1842G>T) | |
16 | g.51139394C>G | CA395883647 | SALL1 | c.2828G>C (p.Ser943Thr) c.2537G>C (p.Ser846Thr) c.77-1842G>C (n.77-1842G>C) | |
16 | g.51139394C>T | CA395883645 | SALL1 | c.2828G>A (p.Ser943Asn) c.2537G>A (p.Ser846Asn) c.77-1842G>A (n.77-1842G>A) | |
16 | g.51139395T>A | CA395883649 | SALL1 | c.2827A>T (p.Ser943Cys) c.2536A>T (p.Ser846Cys) c.77-1843A>T (n.77-1843A>T) | |
16 | g.51139395T>C | CA281301058 | SALL1 | c.2827A>G (p.Ser943Gly) c.2536A>G (p.Ser846Gly) c.77-1843A>G (n.77-1843A>G) | dbSNP |
16 | g.51139395T>G | CA395883652 | SALL1 | c.2827A>C (p.Ser943Arg) c.2536A>C (p.Ser846Arg) c.77-1843A>C (n.77-1843A>C) | |
16 | g.51139395T= | CA2222017888 | SALL1 | c.2827A= (p.Ser943=) c.2536A= (p.Ser846=) c.77-1843A= (n.77-1843A=) | |
16 | g.51139396G>A | CA495780122 | SALL1 | c.2826C>T (p.Pro942=) c.2535C>T (p.Pro845=) c.77-1844C>T (n.77-1844C>T) | dbSNP gnomAD v4 |
16 | g.51139396G>C | CA495780124 | SALL1 | c.2826C>G (p.Pro942=) c.2535C>G (p.Pro845=) c.77-1844C>G (n.77-1844C>G) | |
16 | g.51139396G= | CA2222017892 | SALL1 | c.2826C= (p.Pro942=) c.2535C= (p.Pro845=) c.77-1844C= (n.77-1844C=) | |
16 | g.51139396G>T | CA495780125 | SALL1 | c.2826C>A (p.Pro942=) c.2535C>A (p.Pro845=) c.77-1844C>A (n.77-1844C>A) | |
16 | g.51139397G>A | CA8053033 | SALL1 | c.2825C>T (p.Pro942Leu) c.2534C>T (p.Pro845Leu) c.77-1845C>T (n.77-1845C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.51139397G>C | CA395883656 | SALL1 | c.2825C>G (p.Pro942Arg) c.2534C>G (p.Pro845Arg) c.77-1845C>G (n.77-1845C>G) | |
16 | g.51139397G= | CA2222017900 | SALL1 | c.2825C= (p.Pro942=) c.2534C= (p.Pro845=) c.77-1845C= (n.77-1845C=) | |
16 | g.51139397G>T | CA10604890 | SALL1 | c.2825C>A (p.Pro942His) c.2534C>A (p.Pro845His) c.77-1845C>A (n.77-1845C>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.51139398G>A | CA395883660 | SALL1 | c.2824C>T (p.Pro942Ser) c.2533C>T (p.Pro845Ser) c.77-1846C>T (n.77-1846C>T) | gnomAD v4 |
16 | g.51139398G>C | CA395883662 | SALL1 | c.2824C>G (p.Pro942Ala) c.2533C>G (p.Pro845Ala) c.77-1846C>G (n.77-1846C>G) | |
16 | g.51139398G>T | CA395883664 | SALL1 | c.2824C>A (p.Pro942Thr) c.2533C>A (p.Pro845Thr) c.77-1846C>A (n.77-1846C>A) | gnomAD v4 |
16 | g.51139399T>A | CA495780127 | SALL1 | c.2823A>T (p.Ser941=) c.2532A>T (p.Ser844=) c.77-1847A>T (n.77-1847A>T) | |
16 | g.51139399T>C | CA495780130 | SALL1 | c.2823A>G (p.Ser941=) c.2532A>G (p.Ser844=) c.77-1847A>G (n.77-1847A>G) | |
16 | g.51139399T>G | CA495780128 | SALL1 | c.2823A>C (p.Ser941=) c.2532A>C (p.Ser844=) c.77-1847A>C (n.77-1847A>C) | |
16 | g.51139400G>A | CA395883668 | SALL1 | c.2822C>T (p.Ser941Leu) c.2531C>T (p.Ser844Leu) c.77-1848C>T (n.77-1848C>T) | |
16 | g.51139400G>C | CA395883670 | SALL1 | c.2822C>G (p.Ser941Ter) c.2531C>G (p.Ser844Ter) c.77-1848C>G (n.77-1848C>G) | |
16 | g.51139400G>T | CA395883666 | SALL1 | c.2822C>A (p.Ser941Ter) c.2531C>A (p.Ser844Ter) c.77-1848C>A (n.77-1848C>A) | |
16 | g.51139401A>C | CA395883672 | SALL1 | c.2821T>G (p.Ser941Ala) c.2530T>G (p.Ser844Ala) c.77-1849T>G (n.77-1849T>G) | |
16 | g.51139401A>G | CA395883674 | SALL1 | c.2821T>C (p.Ser941Pro) c.2530T>C (p.Ser844Pro) c.77-1849T>C (n.77-1849T>C) | gnomAD v4 |
16 | g.51139401A>T | CA395883676 | SALL1 | c.2821T>A (p.Ser941Thr) c.2530T>A (p.Ser844Thr) c.77-1849T>A (n.77-1849T>A) | |
16 | g.51139402C>A | CA395883678 | SALL1 | c.2820G>T (p.Lys940Asn) c.2529G>T (p.Lys843Asn) c.77-1850G>T (n.77-1850G>T) | |
16 | g.51139402C>G | CA395883680 | SALL1 | c.2820G>C (p.Lys940Asn) c.2529G>C (p.Lys843Asn) c.77-1850G>C (n.77-1850G>C) | |
16 | g.51139402C>T | CA495780135 | SALL1 | c.2820G>A (p.Lys940=) c.2529G>A (p.Lys843=) c.77-1850G>A (n.77-1850G>A) | |
16 | g.51139403T>A | CA395883683 | SALL1 | c.2819A>T (p.Lys940Met) c.2528A>T (p.Lys843Met) c.77-1851A>T (n.77-1851A>T) | |
16 | g.51139403T>C | CA395883685 | SALL1 | c.2819A>G (p.Lys940Arg) c.2528A>G (p.Lys843Arg) c.77-1851A>G (n.77-1851A>G) | gnomAD v4 |
16 | g.51139403T>G | CA395883688 | SALL1 | c.2819A>C (p.Lys940Thr) c.2528A>C (p.Lys843Thr) c.77-1851A>C (n.77-1851A>C) | |
16 | g.51139404T>A | CA395883690 | SALL1 | c.2818A>T (p.Lys940Ter) c.2527A>T (p.Lys843Ter) c.77-1852A>T (n.77-1852A>T) | |
16 | g.51139404T>C | CA395883692 | SALL1 | c.2818A>G (p.Lys940Glu) c.2527A>G (p.Lys843Glu) c.77-1852A>G (n.77-1852A>G) | |
16 | g.51139404T>G | CA395883694 | SALL1 | c.2818A>C (p.Lys940Gln) c.2527A>C (p.Lys843Gln) c.77-1852A>C (n.77-1852A>C) | |
16 | g.51139405G>A | CA495780138 | SALL1 | c.2817C>T (p.His939=) c.2526C>T (p.His842=) c.77-1853C>T (n.77-1853C>T) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.51139405G>C | CA395883695 | SALL1 | c.2817C>G (p.His939Gln) c.2526C>G (p.His842Gln) c.77-1853C>G (n.77-1853C>G) | |
16 | g.51139405G= | CA2222017906 | SALL1 | c.2817C= (p.His939=) c.2526C= (p.His842=) c.77-1853C= (n.77-1853C=) | |
16 | g.51139405G>T | CA395883698 | SALL1 | c.2817C>A (p.His939Gln) c.2526C>A (p.His842Gln) c.77-1853C>A (n.77-1853C>A) | |
16 | g.51139406T>A | CA395883705 | SALL1 | c.2816A>T (p.His939Leu) c.2525A>T (p.His842Leu) c.77-1854A>T (n.77-1854A>T) | |
16 | g.51139406T>C | CA395883703 | SALL1 | c.2816A>G (p.His939Arg) c.2525A>G (p.His842Arg) c.77-1854A>G (n.77-1854A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51139406T>G | CA395883701 | SALL1 | c.2816A>C (p.His939Pro) c.2525A>C (p.His842Pro) c.77-1854A>C (n.77-1854A>C) | |
16 | g.51139406T= | CA2222017913 | SALL1 | c.2816A= (p.His939=) c.2525A= (p.His842=) c.77-1854A= (n.77-1854A=) | |
16 | g.51139407G>A | CA395883708 | SALL1 | c.2815C>T (p.His939Tyr) c.2524C>T (p.His842Tyr) c.77-1855C>T (n.77-1855C>T) | |
16 | g.51139407G>C | CA395883710 | SALL1 | c.2815C>G (p.His939Asp) c.2524C>G (p.His842Asp) c.77-1855C>G (n.77-1855C>G) | |
16 | g.51139407G= | CA2222017916 | SALL1 | c.2815C= (p.His939=) c.2524C= (p.His842=) c.77-1855C= (n.77-1855C=) | |
16 | g.51139407G>T | CA395883712 | SALL1 | c.2815C>A (p.His939Asn) c.2524C>A (p.His842Asn) c.77-1855C>A (n.77-1855C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51139408G>A | CA495780141 | SALL1 | c.2814C>T (p.Phe938=) c.2523C>T (p.Phe841=) c.77-1856C>T (n.77-1856C>T) | |
16 | g.51139408G>C | CA395883714 | SALL1 | c.2814C>G (p.Phe938Leu) c.2523C>G (p.Phe841Leu) c.77-1856C>G (n.77-1856C>G) | dbSNP |
16 | g.51139408G= | CA2222017919 | SALL1 | c.2814C= (p.Phe938=) c.2523C= (p.Phe841=) c.77-1856C= (n.77-1856C=) | |
16 | g.51139408G>T | CA395883716 | SALL1 | c.2814C>A (p.Phe938Leu) c.2523C>A (p.Phe841Leu) c.77-1856C>A (n.77-1856C>A) | |
16 | g.51139409A= | CA2222017922 | SALL1 | c.2813T= (p.Phe938=) c.2522T= (p.Phe841=) c.77-1857T= (n.77-1857T=) | |
16 | g.51139409A>C | CA395883718 | SALL1 | c.2813T>G (p.Phe938Cys) c.2522T>G (p.Phe841Cys) c.77-1857T>G (n.77-1857T>G) | dbSNP |
16 | g.51139409A>G | CA395883719 | SALL1 | c.2813T>C (p.Phe938Ser) c.2522T>C (p.Phe841Ser) c.77-1857T>C (n.77-1857T>C) | dbSNP |
16 | g.51139409A>T | CA395883721 | SALL1 | c.2813T>A (p.Phe938Tyr) c.2522T>A (p.Phe841Tyr) c.77-1857T>A (n.77-1857T>A) | |
16 | g.51139410A>C | CA395883723 | SALL1 | c.2812T>G (p.Phe938Val) c.2521T>G (p.Phe841Val) c.77-1858T>G (n.77-1858T>G) | |
16 | g.51139410A>G | CA395883725 | SALL1 | c.2812T>C (p.Phe938Leu) c.2521T>C (p.Phe841Leu) c.77-1858T>C (n.77-1858T>C) | |
16 | g.51139410A>T | CA395883726 | SALL1 | c.2812T>A (p.Phe938Ile) c.2521T>A (p.Phe841Ile) c.77-1858T>A (n.77-1858T>A) | |
16 | g.51139411C>A | CA281301066 | SALL1 | c.2811G>T (p.Glu937Asp) c.2520G>T (p.Glu840Asp) c.77-1859G>T (n.77-1859G>T) | dbSNP |
16 | g.51139411C= | CA2222017924 | SALL1 | c.2811G= (p.Glu937=) c.2520G= (p.Glu840=) c.77-1859G= (n.77-1859G=) | |
16 | g.51139411C>G | CA395883727 | SALL1 | c.2811G>C (p.Glu937Asp) c.2520G>C (p.Glu840Asp) c.77-1859G>C (n.77-1859G>C) | |
16 | g.51139411C>T | CA495780145 | SALL1 | c.2811G>A (p.Glu937=) c.2520G>A (p.Glu840=) c.77-1859G>A (n.77-1859G>A) | |
16 | g.51139412T>A | CA395883731 | SALL1 | c.2810A>T (p.Glu937Val) c.2519A>T (p.Glu840Val) c.77-1860A>T (n.77-1860A>T) | gnomAD v4 |
16 | g.51139412T>C | CA395883732 | SALL1 | c.2810A>G (p.Glu937Gly) c.2519A>G (p.Glu840Gly) c.77-1860A>G (n.77-1860A>G) | |
16 | g.51139412T>G | CA395883729 | SALL1 | c.2810A>C (p.Glu937Ala) c.2519A>C (p.Glu840Ala) c.77-1860A>C (n.77-1860A>C) | |
16 | g.51139413C>A | CA395883734 | SALL1 | c.2809G>T (p.Glu937Ter) c.2518G>T (p.Glu840Ter) c.77-1861G>T (n.77-1861G>T) | |
16 | g.51139413C= | CA2222017930 | SALL1 | c.2809G= (p.Glu937=) c.2518G= (p.Glu840=) c.77-1861G= (n.77-1861G=) | |
16 | g.51139413C>G | CA395883735 | SALL1 | c.2809G>C (p.Glu937Gln) c.2518G>C (p.Glu840Gln) c.77-1861G>C (n.77-1861G>C) | dbSNP |
16 | g.51139413C>T | CA8053034 | SALL1 | c.2809G>A (p.Glu937Lys) c.2518G>A (p.Glu840Lys) c.77-1861G>A (n.77-1861G>A) | dbSNP ExAC gnomAD v4 |
16 | g.51139413_51139414delinsAA | CA645592649 | SALL1 | c.2808_2809delinsTT (p.Gln936HisfsTer2) c.2517_2518delinsTT (p.Gln839HisfsTer2) c.77-1862_77-1861delinsTT (n.77-1862_77-1861delinsTT) | COSMIC |
16 | g.51139414C>A | CA395883737 | SALL1 | c.2808G>T (p.Gln936His) c.2517G>T (p.Gln839His) c.77-1862G>T (n.77-1862G>T) | COSMIC |
16 | g.51139414C= | CA2222017933 | SALL1 | c.2808G= (p.Gln936=) c.2517G= (p.Gln839=) c.77-1862G= (n.77-1862G=) | |
16 | g.51139414C>G | CA395883739 | SALL1 | c.2808G>C (p.Gln936His) c.2517G>C (p.Gln839His) c.77-1862G>C (n.77-1862G>C) | |
16 | g.51139414C>T | CA8053035 | SALL1 | c.2808G>A (p.Gln936=) c.2517G>A (p.Gln839=) c.77-1862G>A (n.77-1862G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.51139415T>A | CA395883742 | SALL1 | c.2807A>T (p.Gln936Leu) c.2516A>T (p.Gln839Leu) c.77-1863A>T (n.77-1863A>T) | |
16 | g.51139415T>C | CA395883744 | SALL1 | c.2807A>G (p.Gln936Arg) c.2516A>G (p.Gln839Arg) c.77-1863A>G (n.77-1863A>G) | |
16 | g.51139415T>G | CA395883746 | SALL1 | c.2807A>C (p.Gln936Pro) c.2516A>C (p.Gln839Pro) c.77-1863A>C (n.77-1863A>C) | |
16 | g.51139416G>A | CA395883749 | SALL1 | c.2806C>T (p.Gln936Ter) c.2515C>T (p.Gln839Ter) c.77-1864C>T (n.77-1864C>T) | |
16 | g.51139416G>C | CA395883750 | SALL1 | c.2806C>G (p.Gln936Glu) c.2515C>G (p.Gln839Glu) c.77-1864C>G (n.77-1864C>G) | dbSNP gnomAD v4 |
16 | g.51139416G= | CA2222017937 | SALL1 | c.2806C= (p.Gln936=) c.2515C= (p.Gln839=) c.77-1864C= (n.77-1864C=) | |
16 | g.51139416G>T | CA395883751 | SALL1 | c.2806C>A (p.Gln936Lys) c.2515C>A (p.Gln839Lys) c.77-1864C>A (n.77-1864C>A) | |
16 | g.51139417C>A | CA495780149 | SALL1 | c.2805G>T (p.Thr935=) c.2514G>T (p.Thr838=) c.77-1865G>T (n.77-1865G>T) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.51139417C= | CA2222017941 | SALL1 | c.2805G= (p.Thr935=) c.2514G= (p.Thr838=) c.77-1865G= (n.77-1865G=) | |
16 | g.51139417C>G | CA495780150 | SALL1 | c.2805G>C (p.Thr935=) c.2514G>C (p.Thr838=) c.77-1865G>C (n.77-1865G>C) | |
16 | g.51139417C>T | CA8053036 | SALL1 | c.2805G>A (p.Thr935=) c.2514G>A (p.Thr838=) c.77-1865G>A (n.77-1865G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51139418G>A | CA8053038 | SALL1 | c.2804C>T (p.Thr935Met) c.2513C>T (p.Thr838Met) c.77-1866C>T (n.77-1866C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.51139418G>C | CA395883755 | SALL1 | c.2804C>G (p.Thr935Arg) c.2513C>G (p.Thr838Arg) c.77-1866C>G (n.77-1866C>G) | dbSNP gnomAD v2 COSMIC |
16 | g.51139418G= | CA2222017947 | SALL1 | c.2804C= (p.Thr935=) c.2513C= (p.Thr838=) c.77-1866C= (n.77-1866C=) | |
16 | g.51139418G>T | CA395883753 | SALL1 | c.2804C>A (p.Thr935Lys) c.2513C>A (p.Thr838Lys) c.77-1866C>A (n.77-1866C>A) | |
16 | g.51139419T>A | CA8053039 | SALL1 | c.2803A>T (p.Thr935Ser) c.2512A>T (p.Thr838Ser) c.77-1867A>T (n.77-1867A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51139419T>C | CA395883761 | SALL1 | c.2803A>G (p.Thr935Ala) c.2512A>G (p.Thr838Ala) c.77-1867A>G (n.77-1867A>G) | |
16 | g.51139419T>G | CA395883763 | SALL1 | c.2803A>C (p.Thr935Pro) c.2512A>C (p.Thr838Pro) c.77-1867A>C (n.77-1867A>C) | gnomAD v4 |
16 | g.51139419T= | CA2222017958 | SALL1 | c.2803A= (p.Thr935=) c.2512A= (p.Thr838=) c.77-1867A= (n.77-1867A=) | |
16 | g.51139421_51139426dup | CA8053037 | SALL1 | c.2798_2803dup (p.Ser934_Thr935insAsnSer) c.2507_2512dup (p.Ser837_Thr838insAsnSer) c.77-1872_77-1867dup (n.77-1872_77-1867dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51139420G>A | CA495780155 | SALL1 | c.2802C>T (p.Ser934=) c.2511C>T (p.Ser837=) c.77-1868C>T (n.77-1868C>T) | dbSNP |
16 | g.51139420G>C | CA395883765 | SALL1 | c.2802C>G (p.Ser934Arg) c.2511C>G (p.Ser837Arg) c.77-1868C>G (n.77-1868C>G) | |
16 | g.51139420G= | CA2222017967 | SALL1 | c.2802C= (p.Ser934=) c.2511C= (p.Ser837=) c.77-1868C= (n.77-1868C=) | |
16 | g.51139420G>T | CA395883766 | SALL1 | c.2802C>A (p.Ser934Arg) c.2511C>A (p.Ser837Arg) c.77-1868C>A (n.77-1868C>A) | |
16 | g.51139420_51139421delinsGC | CA2222017971 | SALL1 | c.2801_2802delinsGC (p.Ser934=) c.2510_2511delinsGC (p.Ser837=) c.77-1869_77-1868delinsGC (n.77-1869_77-1868delinsGC) | |
16 | g.51139421del | CA915949259 | SALL1 | c.2801del (p.Ser934ThrfsTer?) c.2510del (p.Ser837ThrfsTer?) c.77-1869del (n.77-1869del) | ClinVar dbSNP |
16 | g.51139421C>A | CA395883770 | SALL1 | c.2801G>T (p.Ser934Ile) c.2510G>T (p.Ser837Ile) c.77-1869G>T (n.77-1869G>T) | dbSNP |
16 | g.51139421C= | CA2222017984 | SALL1 | c.2801G= (p.Ser934=) c.2510G= (p.Ser837=) c.77-1869G= (n.77-1869G=) | |
16 | g.51139421C>G | CA395883771 | SALL1 | c.2801G>C (p.Ser934Thr) c.2510G>C (p.Ser837Thr) c.77-1869G>C (n.77-1869G>C) | |
16 | g.51139421C>T | CA8053040 | SALL1 | c.2801G>A (p.Ser934Asn) c.2510G>A (p.Ser837Asn) c.77-1869G>A (n.77-1869G>A) | dbSNP ExAC COSMIC |
16 | g.51139422T>A | CA395883775 | SALL1 | c.2800A>T (p.Ser934Cys) c.2509A>T (p.Ser837Cys) c.77-1870A>T (n.77-1870A>T) | |
16 | g.51139422T>C | CA395883777 | SALL1 | c.2800A>G (p.Ser934Gly) c.2509A>G (p.Ser837Gly) c.77-1870A>G (n.77-1870A>G) | ClinVar gnomAD v4 |
16 | g.51139422T>G | CA395883779 | SALL1 | c.2800A>C (p.Ser934Arg) c.2509A>C (p.Ser837Arg) c.77-1870A>C (n.77-1870A>C) | |
16 | g.51139423G>A | CA495780159 | SALL1 | c.2799C>T (p.Asn933=) c.2508C>T (p.Asn836=) c.77-1871C>T (n.77-1871C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51139423G>C | CA395883780 | SALL1 | c.2799C>G (p.Asn933Lys) c.2508C>G (p.Asn836Lys) c.77-1871C>G (n.77-1871C>G) | |
16 | g.51139423G= | CA2222017990 | SALL1 | c.2799C= (p.Asn933=) c.2508C= (p.Asn836=) c.77-1871C= (n.77-1871C=) | |
16 | g.51139423G>T | CA395883781 | SALL1 | c.2799C>A (p.Asn933Lys) c.2508C>A (p.Asn836Lys) c.77-1871C>A (n.77-1871C>A) | |
16 | g.51139424T>A | CA395883785 | SALL1 | c.2798A>T (p.Asn933Ile) c.2507A>T (p.Asn836Ile) c.77-1872A>T (n.77-1872A>T) | |
16 | g.51139424T>C | CA8053041 | SALL1 | c.2798A>G (p.Asn933Ser) c.2507A>G (p.Asn836Ser) c.77-1872A>G (n.77-1872A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51139424T>G | CA395883782 | SALL1 | c.2798A>C (p.Asn933Thr) c.2507A>C (p.Asn836Thr) c.77-1872A>C (n.77-1872A>C) | dbSNP |
16 | g.51139424T= | CA2222017999 | SALL1 | c.2798A= (p.Asn933=) c.2507A= (p.Asn836=) c.77-1872A= (n.77-1872A=) | |
16 | g.51139425T>A | CA395883788 | SALL1 | c.2797A>T (p.Asn933Tyr) c.2506A>T (p.Asn836Tyr) c.77-1873A>T (n.77-1873A>T) | |
16 | g.51139425T>C | CA395883790 | SALL1 | c.2797A>G (p.Asn933Asp) c.2506A>G (p.Asn836Asp) c.77-1873A>G (n.77-1873A>G) | gnomAD v4 |
16 | g.51139425T>G | CA395883792 | SALL1 | c.2797A>C (p.Asn933His) c.2506A>C (p.Asn836His) c.77-1873A>C (n.77-1873A>C) | |
16 | g.51139426G>A | CA495780161 | SALL1 | c.2796C>T (p.Ser932=) c.2505C>T (p.Ser835=) c.77-1874C>T (n.77-1874C>T) | gnomAD v4 COSMIC |
16 | g.51139426G>C | CA495780162 | SALL1 | c.2796C>G (p.Ser932=) c.2505C>G (p.Ser835=) c.77-1874C>G (n.77-1874C>G) | |
16 | g.51139426G= | CA2222018004 | SALL1 | c.2796C= (p.Ser932=) c.2505C= (p.Ser835=) c.77-1874C= (n.77-1874C=) | |
16 | g.51139426G>T | CA8053042 | SALL1 | c.2796C>A (p.Ser932=) c.2505C>A (p.Ser835=) c.77-1874C>A (n.77-1874C>A) | dbSNP ExAC gnomAD v2 |
16 | g.51139427G>A | CA395883795 | SALL1 | c.2795C>T (p.Ser932Phe) c.2504C>T (p.Ser835Phe) c.77-1875C>T (n.77-1875C>T) | |
16 | g.51139427G>C | CA395883797 | SALL1 | c.2795C>G (p.Ser932Cys) c.2504C>G (p.Ser835Cys) c.77-1875C>G (n.77-1875C>G) | |
16 | g.51139427G>T | CA395883798 | SALL1 | c.2795C>A (p.Ser932Tyr) c.2504C>A (p.Ser835Tyr) c.77-1875C>A (n.77-1875C>A) | COSMIC |
16 | g.51139428A>C | CA395883804 | SALL1 | c.2794T>G (p.Ser932Ala) c.2503T>G (p.Ser835Ala) c.77-1876T>G (n.77-1876T>G) | |
16 | g.51139428A>G | CA395883800 | SALL1 | c.2794T>C (p.Ser932Pro) c.2503T>C (p.Ser835Pro) c.77-1876T>C (n.77-1876T>C) | |
16 | g.51139428A>T | CA395883802 | SALL1 | c.2794T>A (p.Ser932Thr) c.2503T>A (p.Ser835Thr) c.77-1876T>A (n.77-1876T>A) | |
16 | g.51139429C>A | CA495780163 | SALL1 | c.2793G>T (p.Pro931=) c.2502G>T (p.Pro834=) c.77-1877G>T (n.77-1877G>T) | |
16 | g.51139429C= | CA2222018008 | SALL1 | c.2793G= (p.Pro931=) c.2502G= (p.Pro834=) c.77-1877G= (n.77-1877G=) | |
16 | g.51139429C>G | CA8053044 | SALL1 | c.2793G>C (p.Pro931=) c.2502G>C (p.Pro834=) c.77-1877G>C (n.77-1877G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51139429C>T | CA8053043 | SALL1 | c.2793G>A (p.Pro931=) c.2502G>A (p.Pro834=) c.77-1877G>A (n.77-1877G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51139430G>A | CA8053045 | SALL1 | c.2792C>T (p.Pro931Leu) c.2501C>T (p.Pro834Leu) c.77-1878C>T (n.77-1878C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51139430G>C | CA395883811 | SALL1 | c.2792C>G (p.Pro931Arg) c.2501C>G (p.Pro834Arg) c.77-1878C>G (n.77-1878C>G) | |
16 | g.51139430G= | CA2222018017 | SALL1 | c.2792C= (p.Pro931=) c.2501C= (p.Pro834=) c.77-1878C= (n.77-1878C=) | |
16 | g.51139430G>T | CA395883812 | SALL1 | c.2792C>A (p.Pro931Gln) c.2501C>A (p.Pro834Gln) c.77-1878C>A (n.77-1878C>A) | COSMIC |
16 | g.51139431G>A | CA395883815 | SALL1 | c.2791C>T (p.Pro931Ser) c.2500C>T (p.Pro834Ser) c.77-1879C>T (n.77-1879C>T) | |
16 | g.51139431G>C | CA395883818 | SALL1 | c.2791C>G (p.Pro931Ala) c.2500C>G (p.Pro834Ala) c.77-1879C>G (n.77-1879C>G) | gnomAD v4 |
16 | g.51139431G>T | CA395883816 | SALL1 | c.2791C>A (p.Pro931Thr) c.2500C>A (p.Pro834Thr) c.77-1879C>A (n.77-1879C>A) | |
16 | g.51139432G>A | CA495780165 | SALL1 | c.2790C>T (p.Ser930=) c.2499C>T (p.Ser833=) c.77-1880C>T (n.77-1880C>T) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
16 | g.51139432G>C | CA495780166 | SALL1 | c.2790C>G (p.Ser930=) c.2499C>G (p.Ser833=) c.77-1880C>G (n.77-1880C>G) | |
16 | g.51139432G= | CA2222018022 | SALL1 | c.2790C= (p.Ser930=) c.2499C= (p.Ser833=) c.77-1880C= (n.77-1880C=) | |
16 | g.51139432G>T | CA495780167 | SALL1 | c.2790C>A (p.Ser930=) c.2499C>A (p.Ser833=) c.77-1880C>A (n.77-1880C>A) | |
16 | g.51139433G>A | CA395883821 | SALL1 | c.2789C>T (p.Ser930Phe) c.2498C>T (p.Ser833Phe) c.77-1881C>T (n.77-1881C>T) | |
16 | g.51139433G>C | CA395883822 | SALL1 | c.2789C>G (p.Ser930Cys) c.2498C>G (p.Ser833Cys) c.77-1881C>G (n.77-1881C>G) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.51139433G= | CA2222018025 | SALL1 | c.2789C= (p.Ser930=) c.2498C= (p.Ser833=) c.77-1881C= (n.77-1881C=) | |
16 | g.51139433G>T | CA395883824 | SALL1 | c.2789C>A (p.Ser930Tyr) c.2498C>A (p.Ser833Tyr) c.77-1881C>A (n.77-1881C>A) | |
16 | g.51139434A= | CA2222018029 | SALL1 | c.2788T= (p.Ser930=) c.2497T= (p.Ser833=) c.77-1882T= (n.77-1882T=) | |
16 | g.51139434A>C | CA395883826 | SALL1 | c.2788T>G (p.Ser930Ala) c.2497T>G (p.Ser833Ala) c.77-1882T>G (n.77-1882T>G) | |
16 | g.51139434A>G | CA395883828 | SALL1 | c.2788T>C (p.Ser930Pro) c.2497T>C (p.Ser833Pro) c.77-1882T>C (n.77-1882T>C) | |
16 | g.51139434A>T | CA395883830 | SALL1 | c.2788T>A (p.Ser930Thr) c.2497T>A (p.Ser833Thr) c.77-1882T>A (n.77-1882T>A) | dbSNP |
16 | g.51139435C>A | CA495780169 | SALL1 | c.2787G>T (p.Leu929=) c.2496G>T (p.Leu832=) c.77-1883G>T (n.77-1883G>T) | gnomAD v4 |
16 | g.51139435C= | CA2222018034 | SALL1 | c.2787G= (p.Leu929=) c.2496G= (p.Leu832=) c.77-1883G= (n.77-1883G=) | |
16 | g.51139435C>G | CA495780170 | SALL1 | c.2787G>C (p.Leu929=) c.2496G>C (p.Leu832=) c.77-1883G>C (n.77-1883G>C) | |
16 | g.51139435C>T | CA495780171 | SALL1 | c.2787G>A (p.Leu929=) c.2496G>A (p.Leu832=) c.77-1883G>A (n.77-1883G>A) | dbSNP gnomAD v2 |
16 | g.51139436A>C | CA395883833 | SALL1 | c.2786T>G (p.Leu929Arg) c.2495T>G (p.Leu832Arg) c.77-1884T>G (n.77-1884T>G) | |
16 | g.51139436A>G | CA395883835 | SALL1 | c.2786T>C (p.Leu929Pro) c.2495T>C (p.Leu832Pro) c.77-1884T>C (n.77-1884T>C) | |
16 | g.51139436A>T | CA395883837 | SALL1 | c.2786T>A (p.Leu929Gln) c.2495T>A (p.Leu832Gln) c.77-1884T>A (n.77-1884T>A) | |
16 | g.51139437G>A | CA495780172 | SALL1 | c.2785C>T (p.Leu929=) c.2494C>T (p.Leu832=) c.77-1885C>T (n.77-1885C>T) | |
16 | g.51139437G>C | CA395883839 | SALL1 | c.2785C>G (p.Leu929Val) c.2494C>G (p.Leu832Val) c.77-1885C>G (n.77-1885C>G) | gnomAD v4 |
16 | g.51139437G>T | CA395883841 | SALL1 | c.2785C>A (p.Leu929Met) c.2494C>A (p.Leu832Met) c.77-1885C>A (n.77-1885C>A) | |
16 | g.51139438A>C | CA495780173 | SALL1 | c.2784T>G (p.Ala928=) c.2493T>G (p.Ala831=) c.77-1886T>G (n.77-1886T>G) | |
16 | g.51139438A>G | CA495780174 | SALL1 | c.2784T>C (p.Ala928=) c.2493T>C (p.Ala831=) c.77-1886T>C (n.77-1886T>C) | |
16 | g.51139438A>T | CA495780176 | SALL1 | c.2784T>A (p.Ala928=) c.2493T>A (p.Ala831=) c.77-1886T>A (n.77-1886T>A) | |
16 | g.51139439G>A | CA395883843 | SALL1 | c.2783C>T (p.Ala928Val) c.2492C>T (p.Ala831Val) c.77-1887C>T (n.77-1887C>T) | |
16 | g.51139439G>C | CA395883845 | SALL1 | c.2783C>G (p.Ala928Gly) c.2492C>G (p.Ala831Gly) c.77-1887C>G (n.77-1887C>G) | |
16 | g.51139439G>T | CA395883844 | SALL1 | c.2783C>A (p.Ala928Asp) c.2492C>A (p.Ala831Asp) c.77-1887C>A (n.77-1887C>A) | |
16 | g.51139440C>A | CA395883847 | SALL1 | c.2782G>T (p.Ala928Ser) c.2491G>T (p.Ala831Ser) c.77-1888G>T (n.77-1888G>T) | gnomAD v4 |
16 | g.51139440C>G | CA395883851 | SALL1 | c.2782G>C (p.Ala928Pro) c.2491G>C (p.Ala831Pro) c.77-1888G>C (n.77-1888G>C) | gnomAD v4 |
16 | g.51139440C>T | CA395883849 | SALL1 | c.2782G>A (p.Ala928Thr) c.2491G>A (p.Ala831Thr) c.77-1888G>A (n.77-1888G>A) | |
16 | g.51139441C>A | CA395883853 | SALL1 | c.2781G>T (p.Gln927His) c.2490G>T (p.Gln830His) c.77-1889G>T (n.77-1889G>T) | |
16 | g.51139441C>G | CA395883855 | SALL1 | c.2781G>C (p.Gln927His) c.2490G>C (p.Gln830His) c.77-1889G>C (n.77-1889G>C) | |
16 | g.51139441C>T | CA495780178 | SALL1 | c.2781G>A (p.Gln927=) c.2490G>A (p.Gln830=) c.77-1889G>A (n.77-1889G>A) | |
16 | g.51139442T>A | CA395883857 | SALL1 | c.2780A>T (p.Gln927Leu) c.2489A>T (p.Gln830Leu) c.77-1890A>T (n.77-1890A>T) | |
16 | g.51139442T>C | CA395883858 | SALL1 | c.2780A>G (p.Gln927Arg) c.2489A>G (p.Gln830Arg) c.77-1890A>G (n.77-1890A>G) | ClinVar dbSNP gnomAD v4 |
16 | g.51139442T>G | CA395883860 | SALL1 | c.2780A>C (p.Gln927Pro) c.2489A>C (p.Gln830Pro) c.77-1890A>C (n.77-1890A>C) | |
16 | g.51139442T= | CA2222018037 | SALL1 | c.2780A= (p.Gln927=) c.2489A= (p.Gln830=) c.77-1890A= (n.77-1890A=) | |
16 | g.51139443G>A | CA395883862 | SALL1 | c.2779C>T (p.Gln927Ter) c.2488C>T (p.Gln830Ter) c.77-1891C>T (n.77-1891C>T) | |
16 | g.51139443G>C | CA395883864 | SALL1 | c.2779C>G (p.Gln927Glu) c.2488C>G (p.Gln830Glu) c.77-1891C>G (n.77-1891C>G) | |
16 | g.51139443G>T | CA395883867 | SALL1 | c.2779C>A (p.Gln927Lys) c.2488C>A (p.Gln830Lys) c.77-1891C>A (n.77-1891C>A) |