Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.47574215_47574226dup | CA2695233455 | SYN1 | c.1760_1771dup (p.Pro590_Pro591insArgGlnGlyPro) c.70+464_70+475dup (n.70+464_70+475dup) | |
X | g.47574229_47574321del | CA2693584929 | SYN1 | c.1673_1765del (p.Ala558_Gln588del) c.70+377_70+469del (n.70+377_70+469del) | gnomAD v4 |
X | g.47574221T>A | CA412822652 | SYN1 | c.1763A>T (p.Gln588Leu) c.70+467A>T (n.70+467A>T) | gnomAD v4 |
X | g.47574221T>C | CA412822653 | SYN1 | c.1763A>G (p.Gln588Arg) c.70+467A>G (n.70+467A>G) | gnomAD v4 |
X | g.47574221T>G | CA412822655 | SYN1 | c.1763A>C (p.Gln588Pro) c.70+467A>C (n.70+467A>C) | gnomAD v4 |
X | g.47574222G>A | CA412822656 | SYN1 | c.1762C>T (p.Gln588Ter) c.70+466C>T (n.70+466C>T) | |
X | g.47574222G>C | CA412822659 | SYN1 | c.1762C>G (p.Gln588Glu) c.70+466C>G (n.70+466C>G) | |
X | g.47574222G>T | CA412822658 | SYN1 | c.1762C>A (p.Gln588Lys) c.70+466C>A (n.70+466C>A) | gnomAD v4 |
X | g.47574223del | CA2693584941 | SYN1 | c.1762del (p.Gln588ArgfsTer?) c.70+466del (n.70+466del) | gnomAD v4 |
X | g.47574223G>A | CA516353687 | SYN1 | c.1761C>T (p.Arg587=) c.70+465C>T (n.70+465C>T) | gnomAD v4 |
X | g.47574223G>C | CA516353686 | SYN1 | c.1761C>G (p.Arg587=) c.70+465C>G (n.70+465C>G) | |
X | g.47574223G>T | CA516353684 | SYN1 | c.1761C>A (p.Arg587=) c.70+465C>A (n.70+465C>A) | gnomAD v4 |
X | g.47574224C>A | CA412822660 | SYN1 | c.1760G>T (p.Arg587Leu) c.70+464G>T (n.70+464G>T) | gnomAD v4 |
X | g.47574224C= | CA2427971221 | SYN1 | c.1760G= (p.Arg587=) c.70+464G= (n.70+464G=) | |
X | g.47574224C>G | CA412822662 | SYN1 | c.1760G>C (p.Arg587Pro) c.70+464G>C (n.70+464G>C) | |
X | g.47574224C>T | CA412822664 | SYN1 | c.1760G>A (p.Arg587His) c.70+464G>A (n.70+464G>A) | dbSNP gnomAD v3 gnomAD v4 |
X | g.47574225G>A | CA412822665 | SYN1 | c.1759C>T (p.Arg587Cys) c.70+463C>T (n.70+463C>T) | ClinVar gnomAD v4 |
X | g.47574225G>C | CA412822667 | SYN1 | c.1759C>G (p.Arg587Gly) c.70+463C>G (n.70+463C>G) | |
X | g.47574225G>T | CA412822668 | SYN1 | c.1759C>A (p.Arg587Ser) c.70+463C>A (n.70+463C>A) | gnomAD v4 |
X | g.47574226C>A | CA412822670 | SYN1 | c.1758G>T (p.Gln586His) c.70+462G>T (n.70+462G>T) | gnomAD v4 |
X | g.47574226C>G | CA412822672 | SYN1 | c.1758G>C (p.Gln586His) c.70+462G>C (n.70+462G>C) | |
X | g.47574226C>T | CA516353696 | SYN1 | c.1758G>A (p.Gln586=) c.70+462G>A (n.70+462G>A) | gnomAD v4 |
X | g.47574227T>A | CA412822674 | SYN1 | c.1757A>T (p.Gln586Leu) c.70+461A>T (n.70+461A>T) | gnomAD v4 |
X | g.47574227T>C | CA412822675 | SYN1 | c.1757A>G (p.Gln586Arg) c.70+461A>G (n.70+461A>G) | gnomAD v4 |
X | g.47574227T>G | CA412822677 | SYN1 | c.1757A>C (p.Gln586Pro) c.70+461A>C (n.70+461A>C) | |
X | g.47574228G>A | CA412822681 | SYN1 | c.1756C>T (p.Gln586Ter) c.70+460C>T (n.70+460C>T) | gnomAD v4 |
X | g.47574228G>C | CA412822679 | SYN1 | c.1756C>G (p.Gln586Glu) c.70+460C>G (n.70+460C>G) | |
X | g.47574228G= | CA2427971222 | SYN1 | c.1756C= (p.Gln586=) c.70+460C= (n.70+460C=) | |
X | g.47574228G>T | CA412822680 | SYN1 | c.1756C>A (p.Gln586Lys) c.70+460C>A (n.70+460C>A) | dbSNP gnomAD v4 |
X | g.47574228_47574229insGGGGC | CA2820775722 | SYN1 | c.1755_1756insGCCCC (p.Gln586AlafsTer?) c.70+459_70+460insGCCCC (n.70+459_70+460insGCCCC) | |
X | g.47574229C>A | CA412822683 | SYN1 | c.1755G>T (p.Gln585His) c.70+459G>T (n.70+459G>T) | gnomAD v4 |
X | g.47574229C>G | CA412822684 | SYN1 | c.1755G>C (p.Gln585His) c.70+459G>C (n.70+459G>C) | gnomAD v4 |
X | g.47574229C>T | CA516353707 | SYN1 | c.1755G>A (p.Gln585=) c.70+459G>A (n.70+459G>A) | gnomAD v4 |
X | g.47574229_47574241del | CA2521737594 | SYN1 | c.1743_1755del (p.Pro582SerfsTer?) c.70+447_70+459del (n.70+447_70+459del) | |
X | g.47574230T>A | CA412822686 | SYN1 | c.1754A>T (p.Gln585Leu) c.70+458A>T (n.70+458A>T) | |
X | g.47574230T>C | CA412822687 | SYN1 | c.1754A>G (p.Gln585Arg) c.70+458A>G (n.70+458A>G) | ClinVar gnomAD v4 |
X | g.47574230T>G | CA412822688 | SYN1 | c.1754A>C (p.Gln585Pro) c.70+458A>C (n.70+458A>C) | gnomAD v4 |
X | g.47574231G>A | CA412822690 | SYN1 | c.1753C>T (p.Gln585Ter) c.70+457C>T (n.70+457C>T) | gnomAD v4 |
X | g.47574231G>C | CA412822692 | SYN1 | c.1753C>G (p.Gln585Glu) c.70+457C>G (n.70+457C>G) | |
X | g.47574231G>T | CA412822693 | SYN1 | c.1753C>A (p.Gln585Lys) c.70+457C>A (n.70+457C>A) | gnomAD v4 |
X | g.47574232C>A | CA516353711 | SYN1 | c.1752G>T (p.Gly584=) c.70+456G>T (n.70+456G>T) | dbSNP gnomAD v4 |
X | g.47574232C= | CA2427971223 | SYN1 | c.1752G= (p.Gly584=) c.70+456G= (n.70+456G=) | |
X | g.47574232C>G | CA516353712 | SYN1 | c.1752G>C (p.Gly584=) c.70+456G>C (n.70+456G>C) | gnomAD v4 |
X | g.47574232C>T | CA516353713 | SYN1 | c.1752G>A (p.Gly584=) c.70+456G>A (n.70+456G>A) | dbSNP gnomAD v3 gnomAD v4 |
X | g.47574233C>A | CA412822694 | SYN1 | c.1751G>T (p.Gly584Val) c.70+455G>T (n.70+455G>T) | gnomAD v4 |
X | g.47574233C>G | CA412822695 | SYN1 | c.1751G>C (p.Gly584Ala) c.70+455G>C (n.70+455G>C) | gnomAD v4 |
X | g.47574233C>T | CA412822696 | SYN1 | c.1751G>A (p.Gly584Glu) c.70+455G>A (n.70+455G>A) | gnomAD v4 |
X | g.47574234C>A | CA412822698 | SYN1 | c.1750G>T (p.Gly584Trp) c.70+454G>T (n.70+454G>T) | gnomAD v4 |
X | g.47574234C>G | CA412822700 | SYN1 | c.1750G>C (p.Gly584Arg) c.70+454G>C (n.70+454G>C) | |
X | g.47574234C>T | CA412822701 | SYN1 | c.1750G>A (p.Gly584Arg) c.70+454G>A (n.70+454G>A) | gnomAD v4 |
X | g.47574235del | CA2693585004 | SYN1 | c.1749del (p.Gln585SerfsTer?) c.70+453del (n.70+453del) | gnomAD v4 |
X | g.47574235G>A | CA516353718 | SYN1 | c.1749C>T (p.Gly583=) c.70+453C>T (n.70+453C>T) | dbSNP gnomAD v2 gnomAD v4 |
X | g.47574235G>C | CA516353719 | SYN1 | c.1749C>G (p.Gly583=) c.70+453C>G (n.70+453C>G) | |
X | g.47574235G= | CA2427971224 | SYN1 | c.1749C= (p.Gly583=) c.70+453C= (n.70+453C=) | |
X | g.47574235G>T | CA516353721 | SYN1 | c.1749C>A (p.Gly583=) c.70+453C>A (n.70+453C>A) | gnomAD v4 |
X | g.47574236C>A | CA412822706 | SYN1 | c.1748G>T (p.Gly583Val) c.70+452G>T (n.70+452G>T) | gnomAD v4 |
X | g.47574236C= | CA2427971225 | SYN1 | c.1748G= (p.Gly583=) c.70+452G= (n.70+452G=) | |
X | g.47574236C>G | CA412822703 | SYN1 | c.1748G>C (p.Gly583Ala) c.70+452G>C (n.70+452G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.47574236C>T | CA412822704 | SYN1 | c.1748G>A (p.Gly583Asp) c.70+452G>A (n.70+452G>A) | |
X | g.47574238del | CA2693585009 | SYN1 | c.1748del (p.Gly583AlafsTer?) c.70+452del (n.70+452del) | gnomAD v4 |
X | g.47574237C>A | CA412822708 | SYN1 | c.1747G>T (p.Gly583Cys) c.70+451G>T (n.70+451G>T) | gnomAD v4 |
X | g.47574237C= | CA2427971226 | SYN1 | c.1747G= (p.Gly583=) c.70+451G= (n.70+451G=) | |
X | g.47574237C>G | CA412822710 | SYN1 | c.1747G>C (p.Gly583Arg) c.70+451G>C (n.70+451G>C) | gnomAD v4 |
X | g.47574237C>T | CA412822711 | SYN1 | c.1747G>A (p.Gly583Ser) c.70+451G>A (n.70+451G>A) | dbSNP gnomAD v2 gnomAD v4 |
X | g.47574238C>A | CA516353729 | SYN1 | c.1746G>T (p.Pro582=) c.70+450G>T (n.70+450G>T) | gnomAD v4 |
X | g.47574238C>G | CA516353730 | SYN1 | c.1746G>C (p.Pro582=) c.70+450G>C (n.70+450G>C) | |
X | g.47574238C>T | CA516353731 | SYN1 | c.1746G>A (p.Pro582=) c.70+450G>A (n.70+450G>A) | gnomAD v4 |
X | g.47574239G>A | CA412822712 | SYN1 | c.1745C>T (p.Pro582Leu) c.70+449C>T (n.70+449C>T) | dbSNP gnomAD v4 |
X | g.47574239G>C | CA412822714 | SYN1 | c.1745C>G (p.Pro582Arg) c.70+449C>G (n.70+449C>G) | |
X | g.47574239G= | CA2427971227 | SYN1 | c.1745C= (p.Pro582=) c.70+449C= (n.70+449C=) | |
X | g.47574239G>T | CA412822716 | SYN1 | c.1745C>A (p.Pro582Gln) c.70+449C>A (n.70+449C>A) | gnomAD v4 |
X | g.47574240G>A | CA412822717 | SYN1 | c.1744C>T (p.Pro582Ser) c.70+448C>T (n.70+448C>T) | gnomAD v4 |
X | g.47574240G>C | CA412822719 | SYN1 | c.1744C>G (p.Pro582Ala) c.70+448C>G (n.70+448C>G) | |
X | g.47574240G>T | CA412822720 | SYN1 | c.1744C>A (p.Pro582Thr) c.70+448C>A (n.70+448C>A) | gnomAD v4 |
X | g.47574241T>A | CA516353737 | SYN1 | c.1743A>T (p.Pro581=) c.70+447A>T (n.70+447A>T) | |
X | g.47574241T>C | CA516353736 | SYN1 | c.1743A>G (p.Pro581=) c.70+447A>G (n.70+447A>G) | gnomAD v4 |
X | g.47574241T>G | CA516353735 | SYN1 | c.1743A>C (p.Pro581=) c.70+447A>C (n.70+447A>C) | |
X | g.47574242G>A | CA412822721 | SYN1 | c.1742C>T (p.Pro581Leu) c.70+446C>T (n.70+446C>T) | gnomAD v4 |
X | g.47574242G>C | CA412822722 | SYN1 | c.1742C>G (p.Pro581Arg) c.70+446C>G (n.70+446C>G) | |
X | g.47574242G>T | CA412822724 | SYN1 | c.1742C>A (p.Pro581Gln) c.70+446C>A (n.70+446C>A) | gnomAD v4 |
X | g.47574245del | CA2693585042 | SYN1 | c.1742del (p.Pro581HisfsTer?) c.70+446del (n.70+446del) | gnomAD v4 |
X | g.47574243G>A | CA412822727 | SYN1 | c.1741C>T (p.Pro581Ser) c.70+445C>T (n.70+445C>T) | gnomAD v4 |
X | g.47574243G>C | CA412822726 | SYN1 | c.1741C>G (p.Pro581Ala) c.70+445C>G (n.70+445C>G) | |
X | g.47574243G>T | CA412822725 | SYN1 | c.1741C>A (p.Pro581Thr) c.70+445C>A (n.70+445C>A) | gnomAD v4 |
X | g.47574244G>A | CA516353746 | SYN1 | c.1740C>T (p.Ala580=) c.70+444C>T (n.70+444C>T) | gnomAD v4 |
X | g.47574244G>C | CA516353748 | SYN1 | c.1740C>G (p.Ala580=) c.70+444C>G (n.70+444C>G) | |
X | g.47574244G>T | CA516353749 | SYN1 | c.1740C>A (p.Ala580=) c.70+444C>A (n.70+444C>A) | gnomAD v4 |
X | g.47574245G>A | CA412822731 | SYN1 | c.1739C>T (p.Ala580Val) c.70+443C>T (n.70+443C>T) | ClinVar dbSNP gnomAD v4 |
X | g.47574245G>C | CA412822728 | SYN1 | c.1739C>G (p.Ala580Gly) c.70+443C>G (n.70+443C>G) | |
X | g.47574245G= | CA2427971228 | SYN1 | c.1739C= (p.Ala580=) c.70+443C= (n.70+443C=) | |
X | g.47574245G>T | CA412822730 | SYN1 | c.1739C>A (p.Ala580Asp) c.70+443C>A (n.70+443C>A) | gnomAD v4 |
X | g.47574245_47574246delinsGC | CA2427971229 | SYN1 | c.1738_1739delinsGC (p.Ala580=) c.70+442_70+443delinsGC (n.70+442_70+443delinsGC) | |
X | g.47574246C>A | CA412822733 | SYN1 | c.1738G>T (p.Ala580Ser) c.70+442G>T (n.70+442G>T) | gnomAD v4 |
X | g.47574246C>G | CA412822734 | SYN1 | c.1738G>C (p.Ala580Pro) c.70+442G>C (n.70+442G>C) | |
X | g.47574246C>T | CA412822735 | SYN1 | c.1738G>A (p.Ala580Thr) c.70+442G>A (n.70+442G>A) | gnomAD v4 |
X | g.47574249del | CA641900873 | SYN1 | c.1738del (p.Ala580ProfsTer?) c.70+442del (n.70+442del) | dbSNP gnomAD v2 gnomAD v4 |
X | g.47574247C>A | CA516353754 | SYN1 | c.1737G>T (p.Gly579=) c.70+441G>T (n.70+441G>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.47574247C= | CA2427971230 | SYN1 | c.1737G= (p.Gly579=) c.70+441G= (n.70+441G=) | |
X | g.47574247C>G | CA516353757 | SYN1 | c.1737G>C (p.Gly579=) c.70+441G>C (n.70+441G>C) | |
X | g.47574247C>T | CA516353755 | SYN1 | c.1737G>A (p.Gly579=) c.70+441G>A (n.70+441G>A) | gnomAD v4 |
X | g.47574248C>A | CA412822741 | SYN1 | c.1736G>T (p.Gly579Val) c.70+440G>T (n.70+440G>T) | gnomAD v4 |
X | g.47574248C= | CA2427971231 | SYN1 | c.1736G= (p.Gly579=) c.70+440G= (n.70+440G=) | |
X | g.47574248C>G | CA412822739 | SYN1 | c.1736G>C (p.Gly579Ala) c.70+440G>C (n.70+440G>C) | |
X | g.47574248C>T | CA412822737 | SYN1 | c.1736G>A (p.Gly579Glu) c.70+440G>A (n.70+440G>A) | dbSNP gnomAD v4 |
X | g.47574249C>A | CA412822742 | SYN1 | c.1735G>T (p.Gly579Trp) c.70+439G>T (n.70+439G>T) | gnomAD v4 |
X | g.47574249C= | CA2427971232 | SYN1 | c.1735G= (p.Gly579=) c.70+439G= (n.70+439G=) | |
X | g.47574249C>G | CA412822743 | SYN1 | c.1735G>C (p.Gly579Arg) c.70+439G>C (n.70+439G>C) | |
X | g.47574249C>T | CA412822745 | SYN1 | c.1735G>A (p.Gly579Arg) c.70+439G>A (n.70+439G>A) | dbSNP gnomAD v2 gnomAD v4 |
X | g.47574250A= | CA2427971233 | SYN1 | c.1734T= (p.Ser578=) c.70+438T= (n.70+438T=) | |
X | g.47574250A>C | CA516353764 | SYN1 | c.1734T>G (p.Ser578=) c.70+438T>G (n.70+438T>G) | dbSNP gnomAD v2 gnomAD v4 |
X | g.47574250A>G | CA516353765 | SYN1 | c.1734T>C (p.Ser578=) c.70+438T>C (n.70+438T>C) | dbSNP gnomAD v4 |
X | g.47574250A>T | CA516353766 | SYN1 | c.1734T>A (p.Ser578=) c.70+438T>A (n.70+438T>A) | |
X | g.47574251G>A | CA412822747 | SYN1 | c.1733C>T (p.Ser578Phe) c.70+437C>T (n.70+437C>T) | |
X | g.47574251G>C | CA412822748 | SYN1 | c.1733C>G (p.Ser578Cys) c.70+437C>G (n.70+437C>G) | dbSNP gnomAD v2 gnomAD v4 |
X | g.47574251G= | CA2427971234 | SYN1 | c.1733C= (p.Ser578=) c.70+437C= (n.70+437C=) | |
X | g.47574251G>T | CA412822749 | SYN1 | c.1733C>A (p.Ser578Tyr) c.70+437C>A (n.70+437C>A) | gnomAD v4 |
X | g.47574252A= | CA2427971235 | SYN1 | c.1732T= (p.Ser578=) c.70+436T= (n.70+436T=) | |
X | g.47574252A>C | CA412822751 | SYN1 | c.1732T>G (p.Ser578Ala) c.70+436T>G (n.70+436T>G) | |
X | g.47574252A>G | CA412822754 | SYN1 | c.1732T>C (p.Ser578Pro) c.70+436T>C (n.70+436T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.47574252A>T | CA412822752 | SYN1 | c.1732T>A (p.Ser578Thr) c.70+436T>A (n.70+436T>A) | gnomAD v4 |
X | g.47574253G>A | CA516353773 | SYN1 | c.1731C>T (p.Ala577=) c.70+435C>T (n.70+435C>T) | ClinVar dbSNP gnomAD v4 |
X | g.47574253G>C | CA516353775 | SYN1 | c.1731C>G (p.Ala577=) c.70+435C>G (n.70+435C>G) | gnomAD v4 |
X | g.47574253G>T | CA516353777 | SYN1 | c.1731C>A (p.Ala577=) c.70+435C>A (n.70+435C>A) | gnomAD v4 |
X | g.47574254G>A | CA412822755 | SYN1 | c.1730C>T (p.Ala577Val) c.70+434C>T (n.70+434C>T) | gnomAD v4 |
X | g.47574254G>C | CA329057235 | SYN1 | c.1730C>G (p.Ala577Gly) c.70+434C>G (n.70+434C>G) | dbSNP |
X | g.47574254G= | CA2427971236 | SYN1 | c.1730C= (p.Ala577=) c.70+434C= (n.70+434C=) | |
X | g.47574254G>T | CA412822757 | SYN1 | c.1730C>A (p.Ala577Asp) c.70+434C>A (n.70+434C>A) | gnomAD v4 |
X | g.47574255C>A | CA412822758 | SYN1 | c.1729G>T (p.Ala577Ser) c.70+433G>T (n.70+433G>T) | dbSNP |
X | g.47574255C= | CA2427971237 | SYN1 | c.1729G= (p.Ala577=) c.70+433G= (n.70+433G=) | |
X | g.47574255C>G | CA412822760 | SYN1 | c.1729G>C (p.Ala577Pro) c.70+433G>C (n.70+433G>C) | dbSNP |
X | g.47574255C>T | CA412822762 | SYN1 | c.1729G>A (p.Ala577Thr) c.70+433G>A (n.70+433G>A) | gnomAD v4 |
X | g.47574256del | CA2580101022 | SYN1 | c.1729del (p.Ala577ProfsTer?) c.70+433del (n.70+433del) | ClinVar |
X | g.47574256C>A | CA412822763 | SYN1 | c.1728G>T (p.Lys576Asn) c.70+432G>T (n.70+432G>T) | gnomAD v4 |
X | g.47574256C= | CA2427971238 | SYN1 | c.1728G= (p.Lys576=) c.70+432G= (n.70+432G=) | |
X | g.47574256C>G | CA412822764 | SYN1 | c.1728G>C (p.Lys576Asn) c.70+432G>C (n.70+432G>C) | |
X | g.47574256C>T | CA516353784 | SYN1 | c.1728G>A (p.Lys576=) c.70+432G>A (n.70+432G>A) | dbSNP gnomAD v3 gnomAD v4 |
X | g.47574257T>A | CA412822767 | SYN1 | c.1727A>T (p.Lys576Met) c.70+431A>T (n.70+431A>T) | |
X | g.47574257T>C | CA412822768 | SYN1 | c.1727A>G (p.Lys576Arg) c.70+431A>G (n.70+431A>G) | gnomAD v4 |
X | g.47574257T>G | CA412822770 | SYN1 | c.1727A>C (p.Lys576Thr) c.70+431A>C (n.70+431A>C) | gnomAD v4 |
X | g.47574259del | CA2693585122 | SYN1 | c.1727del (p.Lys576ArgfsTer?) c.70+431del (n.70+431del) | gnomAD v4 |
X | g.47574258T>A | CA412822774 | SYN1 | c.1726A>T (p.Lys576Ter) c.70+430A>T (n.70+430A>T) | |
X | g.47574258T>C | CA412822773 | SYN1 | c.1726A>G (p.Lys576Glu) c.70+430A>G (n.70+430A>G) | ClinVar gnomAD v4 |
X | g.47574258T>G | CA412822771 | SYN1 | c.1726A>C (p.Lys576Gln) c.70+430A>C (n.70+430A>C) | |
X | g.47574259T>A | CA516353790 | SYN1 | c.1725A>T (p.Pro575=) c.70+429A>T (n.70+429A>T) | |
X | g.47574259T>C | CA516353791 | SYN1 | c.1725A>G (p.Pro575=) c.70+429A>G (n.70+429A>G) | gnomAD v4 |
X | g.47574259T>G | CA516353792 | SYN1 | c.1725A>C (p.Pro575=) c.70+429A>C (n.70+429A>C) | |
X | g.47574260G>A | CA412822776 | SYN1 | c.1724C>T (p.Pro575Leu) c.70+428C>T (n.70+428C>T) | |
X | g.47574260G>C | CA412822779 | SYN1 | c.1724C>G (p.Pro575Arg) c.70+428C>G (n.70+428C>G) | |
X | g.47574260G>T | CA412822778 | SYN1 | c.1724C>A (p.Pro575Gln) c.70+428C>A (n.70+428C>A) | gnomAD v4 |
X | g.47574261G>A | CA412822781 | SYN1 | c.1723C>T (p.Pro575Ser) c.70+427C>T (n.70+427C>T) | |
X | g.47574261G>C | CA412822784 | SYN1 | c.1723C>G (p.Pro575Ala) c.70+427C>G (n.70+427C>G) | |
X | g.47574261G>T | CA412822782 | SYN1 | c.1723C>A (p.Pro575Thr) c.70+427C>A (n.70+427C>A) | |
X | g.47574262C>A | CA516353795 | SYN1 | c.1722G>T (p.Pro574=) c.70+426G>T (n.70+426G>T) | gnomAD v4 |
X | g.47574262C= | CA2427971239 | SYN1 | c.1722G= (p.Pro574=) c.70+426G= (n.70+426G=) | |
X | g.47574262C>G | CA516353797 | SYN1 | c.1722G>C (p.Pro574=) c.70+426G>C (n.70+426G>C) | |
X | g.47574262C>T | CA516353799 | SYN1 | c.1722G>A (p.Pro574=) c.70+426G>A (n.70+426G>A) | dbSNP gnomAD v2 gnomAD v4 |
X | g.47574263G>A | CA412822785 | SYN1 | c.1721C>T (p.Pro574Leu) c.70+425C>T (n.70+425C>T) | ClinVar gnomAD v4 |
X | g.47574263G>C | CA412822787 | SYN1 | c.1721C>G (p.Pro574Arg) c.70+425C>G (n.70+425C>G) | |
X | g.47574263G>T | CA412822788 | SYN1 | c.1721C>A (p.Pro574Gln) c.70+425C>A (n.70+425C>A) | dbSNP gnomAD v4 |
X | g.47574264G>A | CA412822790 | SYN1 | c.1720C>T (p.Pro574Ser) c.70+424C>T (n.70+424C>T) | gnomAD v4 |
X | g.47574264G>C | CA412822791 | SYN1 | c.1720C>G (p.Pro574Ala) c.70+424C>G (n.70+424C>G) | |
X | g.47574264G= | CA2427971240 | SYN1 | c.1720C= (p.Pro574=) c.70+424C= (n.70+424C=) | |
X | g.47574264G>T | CA412822793 | SYN1 | c.1720C>A (p.Pro574Thr) c.70+424C>A (n.70+424C>A) | dbSNP gnomAD v4 |
X | g.47574265A>C | CA516353804 | SYN1 | c.1719T>G (p.Ala573=) c.70+423T>G (n.70+423T>G) | |
X | g.47574265A>G | CA516353806 | SYN1 | c.1719T>C (p.Ala573=) c.70+423T>C (n.70+423T>C) | gnomAD v4 |
X | g.47574265A>T | CA516353807 | SYN1 | c.1719T>A (p.Ala573=) c.70+423T>A (n.70+423T>A) | |
X | g.47574266G>A | CA412822795 | SYN1 | c.1718C>T (p.Ala573Val) c.70+422C>T (n.70+422C>T) | ClinVar gnomAD v4 |
X | g.47574266G>C | CA412822796 | SYN1 | c.1718C>G (p.Ala573Gly) c.70+422C>G (n.70+422C>G) | gnomAD v4 |
X | g.47574266G>T | CA412822797 | SYN1 | c.1718C>A (p.Ala573Asp) c.70+422C>A (n.70+422C>A) | gnomAD v4 |
X | g.47574267C>A | CA412822798 | SYN1 | c.1717G>T (p.Ala573Ser) c.70+421G>T (n.70+421G>T) | gnomAD v4 |
X | g.47574267C>G | CA412822799 | SYN1 | c.1717G>C (p.Ala573Pro) c.70+421G>C (n.70+421G>C) | gnomAD v4 |
X | g.47574267C>T | CA412822801 | SYN1 | c.1717G>A (p.Ala573Thr) c.70+421G>A (n.70+421G>A) | gnomAD v4 |
X | g.47574268C>A | CA516353814 | SYN1 | c.1716G>T (p.Pro572=) c.70+420G>T (n.70+420G>T) | gnomAD v4 |
X | g.47574268C>G | CA516353817 | SYN1 | c.1716G>C (p.Pro572=) c.70+420G>C (n.70+420G>C) | gnomAD v4 |
X | g.47574268C>T | CA516353816 | SYN1 | c.1716G>A (p.Pro572=) c.70+420G>A (n.70+420G>A) | gnomAD v4 |
X | g.47574269G>A | CA412822803 | SYN1 | c.1715C>T (p.Pro572Leu) c.70+419C>T (n.70+419C>T) | gnomAD v4 |
X | g.47574269G>C | CA412822806 | SYN1 | c.1715C>G (p.Pro572Arg) c.70+419C>G (n.70+419C>G) | gnomAD v4 |
X | g.47574269G= | CA2427971241 | SYN1 | c.1715C= (p.Pro572=) c.70+419C= (n.70+419C=) | |
X | g.47574269G>T | CA412822805 | SYN1 | c.1715C>A (p.Pro572Gln) c.70+419C>A (n.70+419C>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
X | g.47574271del | CA2820775723 | SYN1 | c.1715del (p.Pro572ArgfsTer?) c.70+419del (n.70+419del) | |
X | g.47574270G>A | CA412822807 | SYN1 | c.1714C>T (p.Pro572Ser) c.70+418C>T (n.70+418C>T) | dbSNP gnomAD v3 gnomAD v4 |
X | g.47574270G>C | CA412822809 | SYN1 | c.1714C>G (p.Pro572Ala) c.70+418C>G (n.70+418C>G) | |
X | g.47574270G= | CA2427971242 | SYN1 | c.1714C= (p.Pro572=) c.70+418C= (n.70+418C=) | |
X | g.47574270G>T | CA412822810 | SYN1 | c.1714C>A (p.Pro572Thr) c.70+418C>A (n.70+418C>A) | gnomAD v4 |
X | g.47574271G>A | CA516353822 | SYN1 | c.1713C>T (p.Gly571=) c.70+417C>T (n.70+417C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.47574271G>C | CA516353824 | SYN1 | c.1713C>G (p.Gly571=) c.70+417C>G (n.70+417C>G) | gnomAD v4 |
X | g.47574271G= | CA2427971243 | SYN1 | c.1713C= (p.Gly571=) c.70+417C= (n.70+417C=) | |
X | g.47574271G>T | CA516353825 | SYN1 | c.1713C>A (p.Gly571=) c.70+417C>A (n.70+417C>A) | gnomAD v4 |
X | g.47574272C>A | CA412822812 | SYN1 | c.1712G>T (p.Gly571Val) c.70+416G>T (n.70+416G>T) | gnomAD v4 |
X | g.47574272C>G | CA412822814 | SYN1 | c.1712G>C (p.Gly571Ala) c.70+416G>C (n.70+416G>C) | gnomAD v4 |
X | g.47574272C>T | CA412822815 | SYN1 | c.1712G>A (p.Gly571Asp) c.70+416G>A (n.70+416G>A) | gnomAD v4 |
X | g.47574273C>A | CA412822817 | SYN1 | c.1711G>T (p.Gly571Cys) c.70+415G>T (n.70+415G>T) | gnomAD v4 |
X | g.47574273C= | CA2427971244 | SYN1 | c.1711G= (p.Gly571=) c.70+415G= (n.70+415G=) | |
X | g.47574273C>G | CA412822818 | SYN1 | c.1711G>C (p.Gly571Arg) c.70+415G>C (n.70+415G>C) | |
X | g.47574273C>T | CA412822820 | SYN1 | c.1711G>A (p.Gly571Ser) c.70+415G>A (n.70+415G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.47574274A>C | CA516353830 | SYN1 | c.1710T>G (p.Ser570=) c.70+414T>G (n.70+414T>G) | |
X | g.47574274A>G | CA516353831 | SYN1 | c.1710T>C (p.Ser570=) c.70+414T>C (n.70+414T>C) | gnomAD v4 |
X | g.47574274A>T | CA516353832 | SYN1 | c.1710T>A (p.Ser570=) c.70+414T>A (n.70+414T>A) | gnomAD v4 |
X | g.47574275G>A | CA412822825 | SYN1 | c.1709C>T (p.Ser570Phe) c.70+413C>T (n.70+413C>T) | gnomAD v4 |
X | g.47574275G>C | CA412822823 | SYN1 | c.1709C>G (p.Ser570Cys) c.70+413C>G (n.70+413C>G) | dbSNP gnomAD v2 gnomAD v4 |
X | g.47574275G= | CA2427971245 | SYN1 | c.1709C= (p.Ser570=) c.70+413C= (n.70+413C=) | |
X | g.47574275G>T | CA412822822 | SYN1 | c.1709C>A (p.Ser570Tyr) c.70+413C>A (n.70+413C>A) | |
X | g.47574276A>C | CA412822826 | SYN1 | c.1708T>G (p.Ser570Ala) c.70+412T>G (n.70+412T>G) | |
X | g.47574276A>G | CA412822828 | SYN1 | c.1708T>C (p.Ser570Pro) c.70+412T>C (n.70+412T>C) | gnomAD v4 |
X | g.47574276A>T | CA412822829 | SYN1 | c.1708T>A (p.Ser570Thr) c.70+412T>A (n.70+412T>A) | gnomAD v4 |
X | g.47574277G>A | CA329057236 | SYN1 | c.1707C>T (p.Val569=) c.70+411C>T (n.70+411C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.47574277G>C | CA516353837 | SYN1 | c.1707C>G (p.Val569=) c.70+411C>G (n.70+411C>G) | gnomAD v4 |
X | g.47574277G= | CA2427971246 | SYN1 | c.1707C= (p.Val569=) c.70+411C= (n.70+411C=) | |
X | g.47574277G>T | CA516353836 | SYN1 | c.1707C>A (p.Val569=) c.70+411C>A (n.70+411C>A) | gnomAD v4 |
X | g.47574278A>C | CA412822830 | SYN1 | c.1706T>G (p.Val569Gly) c.70+410T>G (n.70+410T>G) | |
X | g.47574278A>G | CA412822832 | SYN1 | c.1706T>C (p.Val569Ala) c.70+410T>C (n.70+410T>C) | gnomAD v4 |
X | g.47574278A>T | CA412822833 | SYN1 | c.1706T>A (p.Val569Asp) c.70+410T>A (n.70+410T>A) | |
X | g.47574279C>A | CA412822835 | SYN1 | c.1705G>T (p.Val569Phe) c.70+409G>T (n.70+409G>T) | gnomAD v4 |
X | g.47574279C>G | CA412822836 | SYN1 | c.1705G>C (p.Val569Leu) c.70+409G>C (n.70+409G>C) | |
X | g.47574279C>T | CA412822838 | SYN1 | c.1705G>A (p.Val569Ile) c.70+409G>A (n.70+409G>A) | gnomAD v4 |
X | g.47574280G>A | CA516353841 | SYN1 | c.1704C>T (p.Ser568=) c.70+408C>T (n.70+408C>T) | dbSNP gnomAD v2 gnomAD v4 |
X | g.47574280G>C | CA516353842 | SYN1 | c.1704C>G (p.Ser568=) c.70+408C>G (n.70+408C>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.47574280G= | CA2427971247 | SYN1 | c.1704C= (p.Ser568=) c.70+408C= (n.70+408C=) | |
X | g.47574280G>T | CA516353843 | SYN1 | c.1704C>A (p.Ser568=) c.70+408C>A (n.70+408C>A) | gnomAD v4 |
X | g.47574281G>A | CA412822840 | SYN1 | c.1703C>T (p.Ser568Phe) c.70+407C>T (n.70+407C>T) | |
X | g.47574281G>C | CA412822841 | SYN1 | c.1703C>G (p.Ser568Cys) c.70+407C>G (n.70+407C>G) | |
X | g.47574281G>T | CA412822843 | SYN1 | c.1703C>A (p.Ser568Tyr) c.70+407C>A (n.70+407C>A) | gnomAD v4 |
X | g.47574282A>C | CA412822848 | SYN1 | c.1702T>G (p.Ser568Ala) c.70+406T>G (n.70+406T>G) | |
X | g.47574282A>G | CA412822844 | SYN1 | c.1702T>C (p.Ser568Pro) c.70+406T>C (n.70+406T>C) | gnomAD v4 |
X | g.47574282A>T | CA412822846 | SYN1 | c.1702T>A (p.Ser568Thr) c.70+406T>A (n.70+406T>A) | |
X | g.47574283T>A | CA10398347 | SYN1 | c.1701A>T (p.Thr567=) c.70+405A>T (n.70+405A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.47574283T>C | CA516353847 | SYN1 | c.1701A>G (p.Thr567=) c.70+405A>G (n.70+405A>G) | gnomAD v4 |
X | g.47574283T>G | CA516353849 | SYN1 | c.1701A>C (p.Thr567=) c.70+405A>C (n.70+405A>C) | gnomAD v4 |
X | g.47574283T= | CA2427971248 | SYN1 | c.1701A= (p.Thr567=) c.70+405A= (n.70+405A=) | |
X | g.47574284G>A | CA412822850 | SYN1 | c.1700C>T (p.Thr567Ile) c.70+404C>T (n.70+404C>T) | gnomAD v4 |
X | g.47574284G>C | CA412822851 | SYN1 | c.1700C>G (p.Thr567Arg) c.70+404C>G (n.70+404C>G) | |
X | g.47574284G>T | CA412822852 | SYN1 | c.1700C>A (p.Thr567Lys) c.70+404C>A (n.70+404C>A) | gnomAD v4 |
X | g.47574285T>A | CA412822854 | SYN1 | c.1699A>T (p.Thr567Ser) c.70+403A>T (n.70+403A>T) | gnomAD v4 |
X | g.47574285T>C | CA130889 | SYN1 | c.1699A>G (p.Thr567Ala) c.70+403A>G (n.70+403A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
X | g.47574285T>G | CA412822856 | SYN1 | c.1699A>C (p.Thr567Pro) c.70+403A>C (n.70+403A>C) | |
X | g.47574285T= | CA2427971249 | SYN1 | c.1699A= (p.Thr567=) c.70+403A= (n.70+403A=) | |
X | g.47574286C>A | CA412822857 | SYN1 | c.1698G>T (p.Gln566His) c.70+402G>T (n.70+402G>T) | gnomAD v4 |
X | g.47574286C>G | CA412822859 | SYN1 | c.1698G>C (p.Gln566His) c.70+402G>C (n.70+402G>C) | gnomAD v4 |
X | g.47574286C>T | CA516353856 | SYN1 | c.1698G>A (p.Gln566=) c.70+402G>A (n.70+402G>A) | gnomAD v4 |
X | g.47574287T>A | CA412822860 | SYN1 | c.1697A>T (p.Gln566Leu) c.70+401A>T (n.70+401A>T) | gnomAD v4 |
X | g.47574287T>C | CA412822861 | SYN1 | c.1697A>G (p.Gln566Arg) c.70+401A>G (n.70+401A>G) | gnomAD v4 |
X | g.47574287T>G | CA412822863 | SYN1 | c.1697A>C (p.Gln566Pro) c.70+401A>C (n.70+401A>C) | gnomAD v4 |
X | g.47574288G>A | CA412822868 | SYN1 | c.1696C>T (p.Gln566Ter) c.70+400C>T (n.70+400C>T) | |
X | g.47574288G>C | CA412822867 | SYN1 | c.1696C>G (p.Gln566Glu) c.70+400C>G (n.70+400C>G) | |
X | g.47574288G>T | CA412822865 | SYN1 | c.1696C>A (p.Gln566Lys) c.70+400C>A (n.70+400C>A) | gnomAD v4 |
X | g.47574289A>C | CA516353860 | SYN1 | c.1695T>G (p.Arg565=) c.70+399T>G (n.70+399T>G) | |
X | g.47574289A>G | CA516353862 | SYN1 | c.1695T>C (p.Arg565=) c.70+399T>C (n.70+399T>C) | gnomAD v4 |
X | g.47574289A>T | CA516353863 | SYN1 | c.1695T>A (p.Arg565=) c.70+399T>A (n.70+399T>A) | gnomAD v4 |
X | g.47574290C>A | CA412822871 | SYN1 | c.1694G>T (p.Arg565Leu) c.70+398G>T (n.70+398G>T) | gnomAD v4 |
X | g.47574290C>G | CA412822869 | SYN1 | c.1694G>C (p.Arg565Pro) c.70+398G>C (n.70+398G>C) | gnomAD v4 |
X | g.47574290C>T | CA412822872 | SYN1 | c.1694G>A (p.Arg565His) c.70+398G>A (n.70+398G>A) | gnomAD v4 |
X | g.47574291G>A | CA412822874 | SYN1 | c.1693C>T (p.Arg565Cys) c.70+397C>T (n.70+397C>T) | dbSNP gnomAD v4 |
X | g.47574291G>C | CA412822875 | SYN1 | c.1693C>G (p.Arg565Gly) c.70+397C>G (n.70+397C>G) | |
X | g.47574291G= | CA2427971250 | SYN1 | c.1693C= (p.Arg565=) c.70+397C= (n.70+397C=) | |
X | g.47574291G>T | CA412822877 | SYN1 | c.1693C>A (p.Arg565Ser) c.70+397C>A (n.70+397C>A) | gnomAD v4 |
X | g.47574292G>A | CA516353867 | SYN1 | c.1692C>T (p.Thr564=) c.70+396C>T (n.70+396C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.47574292G>C | CA516353868 | SYN1 | c.1692C>G (p.Thr564=) c.70+396C>G (n.70+396C>G) | |
X | g.47574292G= | CA2427971251 | SYN1 | c.1692C= (p.Thr564=) c.70+396C= (n.70+396C=) | |
X | g.47574292G>T | CA516353870 | SYN1 | c.1692C>A (p.Thr564=) c.70+396C>A (n.70+396C>A) | gnomAD v4 |
X | g.47574293G>A | CA412822879 | SYN1 | c.1691C>T (p.Thr564Ile) c.70+395C>T (n.70+395C>T) | gnomAD v4 |
X | g.47574293G>C | CA412822880 | SYN1 | c.1691C>G (p.Thr564Ser) c.70+395C>G (n.70+395C>G) | |
X | g.47574293G>T | CA412822882 | SYN1 | c.1691C>A (p.Thr564Asn) c.70+395C>A (n.70+395C>A) | gnomAD v4 |
X | g.47574294T>A | CA412822884 | SYN1 | c.1690A>T (p.Thr564Ser) c.70+394A>T (n.70+394A>T) | |
X | g.47574294T>C | CA412822885 | SYN1 | c.1690A>G (p.Thr564Ala) c.70+394A>G (n.70+394A>G) | gnomAD v4 |
X | g.47574294T>G | CA412822887 | SYN1 | c.1690A>C (p.Thr564Pro) c.70+394A>C (n.70+394A>C) | |
X | g.47574295A>C | CA516353873 | SYN1 | c.1689T>G (p.Ala563=) c.70+393T>G (n.70+393T>G) | |
X | g.47574295A>G | CA516353874 | SYN1 | c.1689T>C (p.Ala563=) c.70+393T>C (n.70+393T>C) | gnomAD v4 |
X | g.47574295A>T | CA516353875 | SYN1 | c.1689T>A (p.Ala563=) c.70+393T>A (n.70+393T>A) | gnomAD v4 |
X | g.47574296G>A | CA412822888 | SYN1 | c.1688C>T (p.Ala563Val) c.70+392C>T (n.70+392C>T) | gnomAD v4 |
X | g.47574296G>C | CA412822890 | SYN1 | c.1688C>G (p.Ala563Gly) c.70+392C>G (n.70+392C>G) | |
X | g.47574296G>T | CA412822891 | SYN1 | c.1688C>A (p.Ala563Asp) c.70+392C>A (n.70+392C>A) | gnomAD v4 |
X | g.47574297C>A | CA412822895 | SYN1 | c.1687G>T (p.Ala563Ser) c.70+391G>T (n.70+391G>T) | gnomAD v4 |
X | g.47574297C>G | CA412822892 | SYN1 | c.1687G>C (p.Ala563Pro) c.70+391G>C (n.70+391G>C) | |
X | g.47574297C>T | CA412822894 | SYN1 | c.1687G>A (p.Ala563Thr) c.70+391G>A (n.70+391G>A) | gnomAD v4 |
X | g.47574298C>A | CA412822896 | SYN1 | c.1686G>T (p.Gln562His) c.70+390G>T (n.70+390G>T) | gnomAD v4 |
X | g.47574298C>G | CA412822897 | SYN1 | c.1686G>C (p.Gln562His) c.70+390G>C (n.70+390G>C) | |
X | g.47574298C>T | CA516353877 | SYN1 | c.1686G>A (p.Gln562=) c.70+390G>A (n.70+390G>A) | gnomAD v4 |
X | g.47574299T>A | CA412822898 | SYN1 | c.1685A>T (p.Gln562Leu) c.70+389A>T (n.70+389A>T) | |
X | g.47574299T>C | CA412822899 | SYN1 | c.1685A>G (p.Gln562Arg) c.70+389A>G (n.70+389A>G) | gnomAD v4 |
X | g.47574299T>G | CA412822900 | SYN1 | c.1685A>C (p.Gln562Pro) c.70+389A>C (n.70+389A>C) | |
X | g.47574300G>A | CA412822901 | SYN1 | c.1684C>T (p.Gln562Ter) c.70+388C>T (n.70+388C>T) | gnomAD v4 |
X | g.47574300G>C | CA412822902 | SYN1 | c.1684C>G (p.Gln562Glu) c.70+388C>G (n.70+388C>G) | |
X | g.47574300G>T | CA412822904 | SYN1 | c.1684C>A (p.Gln562Lys) c.70+388C>A (n.70+388C>A) | gnomAD v4 |
X | g.47574301T>A | CA516353881 | SYN1 | c.1683A>T (p.Pro561=) c.70+387A>T (n.70+387A>T) | gnomAD v4 |
X | g.47574301T>C | CA516353882 | SYN1 | c.1683A>G (p.Pro561=) c.70+387A>G (n.70+387A>G) | ClinVar dbSNP gnomAD v4 |
X | g.47574301T>G | CA516353883 | SYN1 | c.1683A>C (p.Pro561=) c.70+387A>C (n.70+387A>C) | gnomAD v4 |
X | g.47574302G>A | CA412822905 | SYN1 | c.1682C>T (p.Pro561Leu) c.70+386C>T (n.70+386C>T) | gnomAD v4 |
X | g.47574302G>C | CA412822906 | SYN1 | c.1682C>G (p.Pro561Arg) c.70+386C>G (n.70+386C>G) | ClinVar dbSNP gnomAD v4 |
X | g.47574302G>T | CA412822907 | SYN1 | c.1682C>A (p.Pro561Gln) c.70+386C>A (n.70+386C>A) | gnomAD v4 |
X | g.47574307dup | CA641900875 | SYN1 | c.1682dup (p.Gln562ThrfsTer?) c.70+386dup (n.70+386dup) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.47574307del | CA641900874 | SYN1 | c.1682del (p.Pro561HisfsTer?) c.70+386del (n.70+386del) | gnomAD v2 gnomAD v4 |
X | g.47574303G>A | CA412822911 | SYN1 | c.1681C>T (p.Pro561Ser) c.70+385C>T (n.70+385C>T) | gnomAD v4 |
X | g.47574303G>C | CA412822913 | SYN1 | c.1681C>G (p.Pro561Ala) c.70+385C>G (n.70+385C>G) | |
X | g.47574303G>T | CA412822909 | SYN1 | c.1681C>A (p.Pro561Thr) c.70+385C>A (n.70+385C>A) | gnomAD v4 |
X | g.47574304G>A | CA516353885 | SYN1 | c.1680C>T (p.Pro560=) c.70+384C>T (n.70+384C>T) | gnomAD v4 |
X | g.47574304G>C | CA516353886 | SYN1 | c.1680C>G (p.Pro560=) c.70+384C>G (n.70+384C>G) | |
X | g.47574304G>T | CA516353887 | SYN1 | c.1680C>A (p.Pro560=) c.70+384C>A (n.70+384C>A) | ClinVar gnomAD v4 |
X | g.47574305G>A | CA412822914 | SYN1 | c.1679C>T (p.Pro560Leu) c.70+383C>T (n.70+383C>T) | gnomAD v4 |
X | g.47574305G>C | CA412822916 | SYN1 | c.1679C>G (p.Pro560Arg) c.70+383C>G (n.70+383C>G) | gnomAD v4 |
X | g.47574305G>T | CA412822917 | SYN1 | c.1679C>A (p.Pro560His) c.70+383C>A (n.70+383C>A) | gnomAD v4 |
X | g.47574306G>A | CA412822920 | SYN1 | c.1678C>T (p.Pro560Ser) c.70+382C>T (n.70+382C>T) | gnomAD v4 |
X | g.47574306G>C | CA412822921 | SYN1 | c.1678C>G (p.Pro560Ala) c.70+382C>G (n.70+382C>G) | |
X | g.47574306G= | CA2427971252 | SYN1 | c.1678C= (p.Pro560=) c.70+382C= (n.70+382C=) | |
X | g.47574306G>T | CA412822923 | SYN1 | c.1678C>A (p.Pro560Thr) c.70+382C>A (n.70+382C>A) | dbSNP gnomAD v3 gnomAD v4 |
X | g.47574307G>A | CA516353891 | SYN1 | c.1677C>T (p.Gly559=) c.70+381C>T (n.70+381C>T) | ClinVar dbSNP gnomAD v4 |
X | g.47574307G>C | CA516353892 | SYN1 | c.1677C>G (p.Gly559=) c.70+381C>G (n.70+381C>G) | ClinVar dbSNP |
X | g.47574307G>T | CA516353893 | SYN1 | c.1677C>A (p.Gly559=) c.70+381C>A (n.70+381C>A) | gnomAD v4 |
X | g.47574308C>A | CA412822924 | SYN1 | c.1676G>T (p.Gly559Val) c.70+380G>T (n.70+380G>T) | dbSNP gnomAD v2 gnomAD v4 |
X | g.47574308C= | CA2427971253 | SYN1 | c.1676G= (p.Gly559=) c.70+380G= (n.70+380G=) | |
X | g.47574308C>G | CA412822926 | SYN1 | c.1676G>C (p.Gly559Ala) c.70+380G>C (n.70+380G>C) | gnomAD v4 |
X | g.47574308C>T | CA412822927 | SYN1 | c.1676G>A (p.Gly559Asp) c.70+380G>A (n.70+380G>A) | gnomAD v4 |
X | g.47574309C>A | CA412822929 | SYN1 | c.1675G>T (p.Gly559Cys) c.70+379G>T (n.70+379G>T) | gnomAD v4 |
X | g.47574309C>G | CA412822930 | SYN1 | c.1675G>C (p.Gly559Arg) c.70+379G>C (n.70+379G>C) | |
X | g.47574309C>T | CA412822932 | SYN1 | c.1675G>A (p.Gly559Ser) c.70+379G>A (n.70+379G>A) | gnomAD v4 |
X | g.47574310C>A | CA516353897 | SYN1 | c.1674G>T (p.Ala558=) c.70+378G>T (n.70+378G>T) | gnomAD v4 |
X | g.47574310C= | CA2427971254 | SYN1 | c.1674G= (p.Ala558=) c.70+378G= (n.70+378G=) | |
X | g.47574310C>G | CA516353898 | SYN1 | c.1674G>C (p.Ala558=) c.70+378G>C (n.70+378G>C) | |
X | g.47574310C>T | CA516353899 | SYN1 | c.1674G>A (p.Ala558=) c.70+378G>A (n.70+378G>A) | dbSNP gnomAD v4 |
X | g.47574311G>A | CA412822936 | SYN1 | c.1673C>T (p.Ala558Val) c.70+377C>T (n.70+377C>T) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
X | g.47574311G>C | CA412822937 | SYN1 | c.1673C>G (p.Ala558Gly) c.70+377C>G (n.70+377C>G) | gnomAD v4 |
X | g.47574311G>T | CA412822935 | SYN1 | c.1673C>A (p.Ala558Glu) c.70+377C>A (n.70+377C>A) | gnomAD v4 |
X | g.47574312C>A | CA412822939 | SYN1 | c.1672G>T (p.Ala558Ser) c.70+376G>T (n.70+376G>T) | gnomAD v4 |
X | g.47574312C= | CA2427971255 | SYN1 | c.1672G= (p.Ala558=) c.70+376G= (n.70+376G=) | |
X | g.47574312C>G | CA412822941 | SYN1 | c.1672G>C (p.Ala558Pro) c.70+376G>C (n.70+376G>C) | |
X | g.47574312C>T | CA412822942 | SYN1 | c.1672G>A (p.Ala558Thr) c.70+376G>A (n.70+376G>A) | dbSNP |
X | g.47574313C>A | CA412822944 | SYN1 | c.1671G>T (p.Gln557His) c.70+375G>T (n.70+375G>T) | gnomAD v4 |
X | g.47574313C>G | CA412822946 | SYN1 | c.1671G>C (p.Gln557His) c.70+375G>C (n.70+375G>C) | |
X | g.47574313C>T | CA516353902 | SYN1 | c.1671G>A (p.Gln557=) c.70+375G>A (n.70+375G>A) | |
X | g.47574314T>A | CA412822951 | SYN1 | c.1670A>T (p.Gln557Leu) c.70+374A>T (n.70+374A>T) | |
X | g.47574314T>C | CA412822947 | SYN1 | c.1670A>G (p.Gln557Arg) c.70+374A>G (n.70+374A>G) | gnomAD v4 |
X | g.47574314T>G | CA412822949 | SYN1 | c.1670A>C (p.Gln557Pro) c.70+374A>C (n.70+374A>C) | |
X | g.47574315G>A | CA412822953 | SYN1 | c.1669C>T (p.Gln557Ter) c.70+373C>T (n.70+373C>T) | gnomAD v4 |
X | g.47574315G>C | CA412822955 | SYN1 | c.1669C>G (p.Gln557Glu) c.70+373C>G (n.70+373C>G) | |
X | g.47574315G>T | CA412822958 | SYN1 | c.1669C>A (p.Gln557Lys) c.70+373C>A (n.70+373C>A) | |
X | g.47574316del | CA2693585148 | SYN1 | c.1669del (p.Gln557ArgfsTer?) c.70+373del (n.70+373del) | gnomAD v4 |
X | g.47574316G>A | CA516353903 | SYN1 | c.1668C>T (p.Arg556=) c.70+372C>T (n.70+372C>T) | gnomAD v4 |
X | g.47574316G>C | CA516353904 | SYN1 | c.1668C>G (p.Arg556=) c.70+372C>G (n.70+372C>G) | |
X | g.47574316G= | CA2427971256 | SYN1 | c.1668C= (p.Arg556=) c.70+372C= (n.70+372C=) | |
X | g.47574316G>T | CA516353905 | SYN1 | c.1668C>A (p.Arg556=) c.70+372C>A (n.70+372C>A) | dbSNP gnomAD v2 gnomAD v4 |
X | g.47574317C>A | CA412822959 | SYN1 | c.1667G>T (p.Arg556Leu) c.70+371G>T (n.70+371G>T) | ClinVar dbSNP gnomAD v4 |
X | g.47574317C= | CA2427971257 | SYN1 | c.1667G= (p.Arg556=) c.70+371G= (n.70+371G=) | |
X | g.47574317C>G | CA329057253 | SYN1 | c.1667G>C (p.Arg556Pro) c.70+371G>C (n.70+371G>C) | dbSNP |
X | g.47574317C>T | CA412822961 | SYN1 | c.1667G>A (p.Arg556His) c.70+371G>A (n.70+371G>A) | gnomAD v4 |
X | g.47574318G>A | CA412822965 | SYN1 | c.1666C>T (p.Arg556Cys) c.70+370C>T (n.70+370C>T) | dbSNP gnomAD v2 gnomAD v4 |
X | g.47574318G>C | CA412822966 | SYN1 | c.1666C>G (p.Arg556Gly) c.70+370C>G (n.70+370C>G) | |
X | g.47574318G= | CA2427971258 | SYN1 | c.1666C= (p.Arg556=) c.70+370C= (n.70+370C=) | |
X | g.47574318G>T | CA412822963 | SYN1 | c.1666C>A (p.Arg556Ser) c.70+370C>A (n.70+370C>A) | dbSNP gnomAD v4 |
X | g.47574319C>A | CA318964 | SYN1 | c.1665G>T (p.Gln555His) c.70+369G>T (n.70+369G>T) | ClinVar dbSNP gnomAD v4 |
X | g.47574319C= | CA2427971259 | SYN1 | c.1665G= (p.Gln555=) c.70+369G= (n.70+369G=) | |
X | g.47574319C>G | CA412822968 | SYN1 | c.1665G>C (p.Gln555His) c.70+369G>C (n.70+369G>C) | gnomAD v4 |
X | g.47574319C>T | CA516353909 | SYN1 | c.1665G>A (p.Gln555=) c.70+369G>A (n.70+369G>A) | gnomAD v4 |
X | g.47574320T>A | CA412822970 | SYN1 | c.1664A>T (p.Gln555Leu) c.70+368A>T (n.70+368A>T) | |
X | g.47574320T>C | CA412822972 | SYN1 | c.1664A>G (p.Gln555Arg) c.70+368A>G (n.70+368A>G) | gnomAD v4 |
X | g.47574320T>G | CA412822973 | SYN1 | c.1664A>C (p.Gln555Pro) c.70+368A>C (n.70+368A>C) | |
X | g.47574320_47574321delinsTG | CA2427971260 | SYN1 | c.1663_1664delinsCA (p.Gln555=) c.70+367_70+368delinsCA (n.70+367_70+368delinsCA) | |
X | g.47574321G>A | CA130885 | SYN1 | c.1663C>T (p.Gln555Ter) c.70+367C>T (n.70+367C>T) | ClinVar dbSNP gnomAD v4 |
X | g.47574321G>C | CA412822976 | SYN1 | c.1663C>G (p.Gln555Glu) c.70+367C>G (n.70+367C>G) | |
X | g.47574321G= | CA2427971261 | SYN1 | c.1663C= (p.Gln555=) c.70+367C= (n.70+367C=) | |
X | g.47574321G>T | CA412822978 | SYN1 | c.1663C>A (p.Gln555Lys) c.70+367C>A (n.70+367C>A) | gnomAD v4 |
X | g.47574324del | CA641900876 | SYN1 | c.1663del (p.Gln555SerfsTer?) c.70+367del (n.70+367del) | dbSNP gnomAD v2 gnomAD v4 |