| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.4816189G>A | CA9104975 | TICAM1 | c.*50C>T (n.*50C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.4816189G>C | CA2586031763 | TICAM1 | c.*50C>G (n.*50C>G) | gnomAD v4 |
| 19 | g.4816189G= | CA2319604759 | TICAM1 | c.*50C= (n.*50C=) | |
| 19 | g.4816189G>T | CA2586031762 | TICAM1 | c.*50C>A (n.*50C>A) | gnomAD v4 |
| 19 | g.4816192G>A | CA2319604761 | TICAM1 | c.*47C>T (n.*47C>T) | dbSNP |
| 19 | g.4816192G= | CA2319604760 | TICAM1 | c.*47C= (n.*47C=) | |
| 19 | g.4816192G>T | CA2319604762 | TICAM1 | c.*47C>A (n.*47C>A) | dbSNP gnomAD v4 |
| 19 | g.4816193C>G | CA2586031764 | TICAM1 | c.*46G>C (n.*46G>C) | gnomAD v4 |
| 19 | g.4816193C>T | CA2586031765 | TICAM1 | c.*46G>A (n.*46G>A) | gnomAD v4 |
| 19 | g.4816194C= | CA2319604763 | TICAM1 | c.*45G= (n.*45G=) | |
| 19 | g.4816194C>G | CA2319604764 | TICAM1 | c.*45G>C (n.*45G>C) | dbSNP gnomAD v4 |
| 19 | g.4816194C>T | CA2586031766 | TICAM1 | c.*45G>A (n.*45G>A) | gnomAD v4 |
| 19 | g.4816195T>A | CA2586031767 | TICAM1 | c.*44A>T (n.*44A>T) | gnomAD v4 |
| 19 | g.4816196G>A | CA2319604766 | TICAM1 | c.*43C>T (n.*43C>T) | dbSNP gnomAD v4 |
| 19 | g.4816196G>C | CA2582209143 | TICAM1 | c.*43C>G (n.*43C>G) | gnomAD v3 gnomAD v4 |
| 19 | g.4816196G= | CA2319604765 | TICAM1 | c.*43C= (n.*43C=) | |
| 19 | g.4816196G>T | CA2586031770 | TICAM1 | c.*43C>A (n.*43C>A) | gnomAD v4 |
| 19 | g.4816198dup | CA2586031768 | TICAM1 | c.*43dup (n.*43dup) | gnomAD v4 |
| 19 | g.4816198del | CA2586031769 | TICAM1 | c.*43del (n.*43del) | gnomAD v4 |
| 19 | g.4816197G>A | CA9104976 | TICAM1 | c.*42C>T (n.*42C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.4816197G>C | CA2550715226 | TICAM1 | c.*42C>G (n.*42C>G) | |
| 19 | g.4816197G= | CA2319604767 | TICAM1 | c.*42C= (n.*42C=) | |
| 19 | g.4816197G>T | CA2586031771 | TICAM1 | c.*42C>A (n.*42C>A) | gnomAD v4 |
| 19 | g.4816198G>A | CA2319604769 | TICAM1 | c.*41C>T (n.*41C>T) | dbSNP gnomAD v4 |
| 19 | g.4816198G= | CA2319604768 | TICAM1 | c.*41C= (n.*41C=) | |
| 19 | g.4816198G>T | CA9104977 | TICAM1 | c.*41C>A (n.*41C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.4816200C>T | CA2586031772 | TICAM1 | c.*39G>A (n.*39G>A) | gnomAD v4 |
| 19 | g.4816201C>A | CA2586031773 | TICAM1 | c.*38G>T (n.*38G>T) | gnomAD v4 |
| 19 | g.4816201C>G | CA2735608182 | TICAM1 | c.*38G>C (n.*38G>C) | dbSNP |
| 19 | g.4816201C>T | CA2586031774 | TICAM1 | c.*38G>A (n.*38G>A) | gnomAD v4 |
| 19 | g.4816202del | CA2586031775 | TICAM1 | c.*37del (n.*37del) | gnomAD v4 |
| 19 | g.4816202A= | CA2319604770 | TICAM1 | c.*37T= (n.*37T=) | |
| 19 | g.4816202A>G | CA631717156 | TICAM1 | c.*37T>C (n.*37T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.4816202A>T | CA914294045 | TICAM1 | c.*37T>A (n.*37T>A) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.4816203G>A | CA2586031776 | TICAM1 | c.*36C>T (n.*36C>T) | gnomAD v4 |
| 19 | g.4816203G>T | CA657276458 | TICAM1 | c.*36C>A (n.*36C>A) | gnomAD v4 COSMIC |
| 19 | g.4816204G>A | CA9104978 | TICAM1 | c.*35C>T (n.*35C>T) | dbSNP ExAC gnomAD v2 |
| 19 | g.4816204G= | CA2319604771 | TICAM1 | c.*35C= (n.*35C=) | |
| 19 | g.4816204G>T | CA2586031777 | TICAM1 | c.*35C>A (n.*35C>A) | gnomAD v4 |
| 19 | g.4816205G>A | CA9104980 | TICAM1 | c.*34C>T (n.*34C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.4816205G>C | CA9104979 | TICAM1 | c.*34C>G (n.*34C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.4816205G= | CA2319604772 | TICAM1 | c.*34C= (n.*34C=) | |
| 19 | g.4816205G>T | CA2586031778 | TICAM1 | c.*34C>A (n.*34C>A) | gnomAD v4 |
| 19 | g.4816206G>A | CA2508261955 | TICAM1 | c.*33C>T (n.*33C>T) | |
| 19 | g.4816206G>T | CA2552208080 | TICAM1 | c.*33C>A (n.*33C>A) | gnomAD v4 |
| 19 | g.4816207T>C | CA2586031779 | TICAM1 | c.*32A>G (n.*32A>G) | gnomAD v4 |
| 19 | g.4816208G>A | CA2586031781 | TICAM1 | c.*31C>T (n.*31C>T) | gnomAD v4 |
| 19 | g.4816208G>T | CA2586031780 | TICAM1 | c.*31C>A (n.*31C>A) | gnomAD v4 |
| 19 | g.4816210T>C | CA2586031782 | TICAM1 | c.*29A>G (n.*29A>G) | gnomAD v4 |
| 19 | g.4816211C>A | CA992856588 | TICAM1 | c.*28G>T (n.*28G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.4816211C= | CA2319604773 | TICAM1 | c.*28G= (n.*28G=) | |
| 19 | g.4816211C>T | CA2586031784 | TICAM1 | c.*28G>A (n.*28G>A) | gnomAD v4 |
| 19 | g.4816214del | CA2586031783 | TICAM1 | c.*28del (n.*28del) | gnomAD v4 |
| 19 | g.4816212C>A | CA2586031785 | TICAM1 | c.*27G>T (n.*27G>T) | gnomAD v4 |
| 19 | g.4816212C>T | CA2586031786 | TICAM1 | c.*27G>A (n.*27G>A) | gnomAD v4 |
| 19 | g.4816213C>G | CA2576579896 | TICAM1 | c.*26G>C (n.*26G>C) | |
| 19 | g.4816214C>A | CA2586031787 | TICAM1 | c.*25G>T (n.*25G>T) | gnomAD v4 |
| 19 | g.4816215A>C | CA2586031788 | TICAM1 | c.*24T>G (n.*24T>G) | gnomAD v4 |
| 19 | g.4816215A>G | CA2586031789 | TICAM1 | c.*24T>C (n.*24T>C) | gnomAD v4 |
| 19 | g.4816215_4816216delinsAG | CA2319604774 | TICAM1 | c.*23_*24delinsCT (n.*23_*24delinsCT) | |
| 19 | g.4816216G>A | CA2586031790 | TICAM1 | c.*23C>T (n.*23C>T) | gnomAD v4 |
| 19 | g.4816216G>T | CA657276459 | TICAM1 | c.*23C>A (n.*23C>A) | gnomAD v4 COSMIC |
| 19 | g.4816217del | CA304546791 | TICAM1 | c.*23del (n.*23del) | dbSNP |
| 19 | g.4816217G>A | CA2586031791 | TICAM1 | c.*22C>T (n.*22C>T) | gnomAD v4 |
| 19 | g.4816217G>C | CA9104981 | TICAM1 | c.*22C>G (n.*22C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.4816217G= | CA2319604775 | TICAM1 | c.*22C= (n.*22C=) | |
| 19 | g.4816217G>T | CA2586031792 | TICAM1 | c.*22C>A (n.*22C>A) | gnomAD v4 |
| 19 | g.4816218T>C | CA9104982 | TICAM1 | c.*21A>G (n.*21A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.4816218T= | CA2319604776 | TICAM1 | c.*21A= (n.*21A=) | |
| 19 | g.4816219G>A | CA2586031793 | TICAM1 | c.*20C>T (n.*20C>T) | gnomAD v4 |
| 19 | g.4816219G>T | CA2586031794 | TICAM1 | c.*20C>A (n.*20C>A) | gnomAD v4 |
| 19 | g.4816220G>C | CA882980457 | TICAM1 | c.*19C>G (n.*19C>G) | dbSNP |
| 19 | g.4816220G= | CA2319604777 | TICAM1 | c.*19C= (n.*19C=) | |
| 19 | g.4816220G>T | CA2586031795 | TICAM1 | c.*19C>A (n.*19C>A) | gnomAD v4 |
| 19 | g.4816221T>C | CA2586031796 | TICAM1 | c.*18A>G (n.*18A>G) | gnomAD v4 |
| 19 | g.4816222C>A | CA2586031797 | TICAM1 | c.*17G>T (n.*17G>T) | gnomAD v4 |
| 19 | g.4816222C>G | CA2586031798 | TICAM1 | c.*17G>C (n.*17G>C) | gnomAD v4 |
| 19 | g.4816222C>T | CA2512821696 | TICAM1 | c.*17G>A (n.*17G>A) | gnomAD v4 |
| 19 | g.4816222_4816233delinsCAGGCAAGGACA | CA2319604778 | TICAM1 | c.*6_*17delinsTGTCCTTGCCTG (n.*6_*17delinsTGTCCTTGCCTG) | |
| 19 | g.4816223A>G | CA2586031799 | TICAM1 | c.*16T>C (n.*16T>C) | gnomAD v4 |
| 19 | g.4816223_4816233del | CA631717157 | TICAM1 | c.*6_*16del (n.*6_*16del) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.4816224G>A | CA2586031800 | TICAM1 | c.*15C>T (n.*15C>T) | gnomAD v4 |
| 19 | g.4816224G>T | CA2586031801 | TICAM1 | c.*15C>A (n.*15C>A) | gnomAD v4 |
| 19 | g.4816225G>A | CA2586031802 | TICAM1 | c.*14C>T (n.*14C>T) | gnomAD v4 |
| 19 | g.4816225G>T | CA2586031803 | TICAM1 | c.*14C>A (n.*14C>A) | gnomAD v4 |
| 19 | g.4816226C>A | CA631717158 | TICAM1 | c.*13G>T (n.*13G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.4816226C= | CA2319604779 | TICAM1 | c.*13G= (n.*13G=) | |
| 19 | g.4816226C>G | CA2586031804 | TICAM1 | c.*13G>C (n.*13G>C) | gnomAD v4 |
| 19 | g.4816226C>T | CA2586031805 | TICAM1 | c.*13G>A (n.*13G>A) | gnomAD v4 |
| 19 | g.4816227A>T | CA2586031806 | TICAM1 | c.*12T>A (n.*12T>A) | gnomAD v4 |
| 19 | g.4816228A= | CA2319604780 | TICAM1 | c.*11T= (n.*11T=) | |
| 19 | g.4816228A>G | CA9104983 | TICAM1 | c.*11T>C (n.*11T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.4816229G>A | CA9104984 | TICAM1 | c.*10C>T (n.*10C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.4816229G>C | CA2581364801 | TICAM1 | c.*10C>G (n.*10C>G) | |
| 19 | g.4816229G= | CA2319604781 | TICAM1 | c.*10C= (n.*10C=) | |
| 19 | g.4816229G>T | CA2581364800 | TICAM1 | c.*10C>A (n.*10C>A) | gnomAD v4 |
| 19 | g.4816229_4816230del | CA2576579897 | TICAM1 | c.*9_*10del (n.*9_*10del) | gnomAD v4 |
| 19 | g.4816230G>T | CA2586031807 | TICAM1 | c.*9C>A (n.*9C>A) | gnomAD v4 |
| 19 | g.4816233_4816234del | CA2576579898 | TICAM1 | c.*7_*8del (n.*7_*8del) | |
| 19 | g.4816232C>G | CA2576579899 | TICAM1 | c.*7G>C (n.*7G>C) | |
| 19 | g.4816232C>T | CA2586031808 | TICAM1 | c.*7G>A (n.*7G>A) | gnomAD v4 |
| 19 | g.4816234C>A | CA2586031809 | TICAM1 | c.*5G>T (n.*5G>T) | gnomAD v4 |
| 19 | g.4816234C= | CA2319604782 | TICAM1 | c.*5G= (n.*5G=) | |
| 19 | g.4816234C>G | CA304546819 | TICAM1 | c.*5G>C (n.*5G>C) | dbSNP |
| 19 | g.4816234C>T | CA631717159 | TICAM1 | c.*5G>A (n.*5G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.4816235G>A | CA631717160 | TICAM1 | c.*4C>T (n.*4C>T) | dbSNP gnomAD v2 |
| 19 | g.4816235G= | CA2319604783 | TICAM1 | c.*4C= (n.*4C=) | |
| 19 | g.4816235G>T | CA2586031810 | TICAM1 | c.*4C>A (n.*4C>A) | gnomAD v4 |
| 19 | g.4816236C>A | CA2586031811 | TICAM1 | c.*3G>T (n.*3G>T) | gnomAD v4 |
| 19 | g.4816236C= | CA2319604784 | TICAM1 | c.*3G= (n.*3G=) | |
| 19 | g.4816236C>T | CA9104985 | TICAM1 | c.*3G>A (n.*3G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.4816237G>A | CA9104986 | TICAM1 | c.*2C>T (n.*2C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.4816237G= | CA2319604785 | TICAM1 | c.*2C= (n.*2C=) | |
| 19 | g.4816237G>T | CA2586031812 | TICAM1 | c.*2C>A (n.*2C>A) | gnomAD v4 |
| 19 | g.4816238G>A | CA2586031813 | TICAM1 | c.*1C>T (n.*1C>T) | gnomAD v4 |
| 19 | g.4816238G>T | CA2586031814 | TICAM1 | c.*1C>A (n.*1C>A) | gnomAD v4 |
| 19 | g.4816239T>A | CA403487826 | TICAM1 | c.2139A>T (p.Ter713Cys) c.1641A>T (p.Ter547Cys) c.2097A>T (p.Ter699Cys) c.2004A>T (p.Ter668Cys) c.1497A>T (p.Ter499Cys) | gnomAD v4 |
| 19 | g.4816239T>C | CA403487827 | TICAM1 | c.2139A>G (p.Ter713Trp) c.1641A>G (p.Ter547Trp) c.2097A>G (p.Ter699Trp) c.2004A>G (p.Ter668Trp) c.1497A>G (p.Ter499Trp) | gnomAD v4 |
| 19 | g.4816239T>G | CA403487828 | TICAM1 | c.2139A>C (p.Ter713Cys) c.1641A>C (p.Ter547Cys) c.2097A>C (p.Ter699Cys) c.2004A>C (p.Ter668Cys) c.1497A>C (p.Ter499Cys) | |
| 19 | g.4816240C>A | CA403487829 | TICAM1 | c.2138G>T (p.Ter713Leu) c.1640G>T (p.Ter547Leu) c.2096G>T (p.Ter699Leu) c.2003G>T (p.Ter668Leu) c.1496G>T (p.Ter499Leu) | gnomAD v4 |
| 19 | g.4816240C>G | CA403487831 | TICAM1 | c.2138G>C (p.Ter713Ser) c.1640G>C (p.Ter547Ser) c.2096G>C (p.Ter699Ser) c.2003G>C (p.Ter668Ser) c.1496G>C (p.Ter499Ser) | |
| 19 | g.4816240C>T | CA505173447 | TICAM1 | c.2138G>A (p.Ter713=) c.1640G>A (p.Ter547=) c.2096G>A (p.Ter699=) c.2003G>A (p.Ter668=) c.1496G>A (p.Ter499=) | |
| 19 | g.4816241A>C | CA403487833 | TICAM1 | c.2137T>G (p.Ter713Gly) c.1639T>G (p.Ter547Gly) c.2095T>G (p.Ter699Gly) c.2002T>G (p.Ter668Gly) c.1495T>G (p.Ter499Gly) | |
| 19 | g.4816241A>G | CA403487836 | TICAM1 | c.2137T>C (p.Ter713Arg) c.1639T>C (p.Ter547Arg) c.2095T>C (p.Ter699Arg) c.2002T>C (p.Ter668Arg) c.1495T>C (p.Ter499Arg) | |
| 19 | g.4816241A>T | CA403487834 | TICAM1 | c.2137T>A (p.Ter713Arg) c.1639T>A (p.Ter547Arg) c.2095T>A (p.Ter699Arg) c.2002T>A (p.Ter668Arg) c.1495T>A (p.Ter499Arg) | gnomAD v4 |
| 19 | g.4816242T>A | CA403487839 | TICAM1 | c.2136A>T (p.Glu712Asp) c.1638A>T (p.Glu546Asp) c.2094A>T (p.Glu698Asp) c.2001A>T (p.Glu667Asp) c.1494A>T (p.Glu498Asp) | |
| 19 | g.4816242T>C | CA505173448 | TICAM1 | c.2136A>G (p.Glu712=) c.1638A>G (p.Glu546=) c.2094A>G (p.Glu698=) c.2001A>G (p.Glu667=) c.1494A>G (p.Glu498=) | gnomAD v4 |
| 19 | g.4816242T>G | CA403487840 | TICAM1 | c.2136A>C (p.Glu712Asp) c.1638A>C (p.Glu546Asp) c.2094A>C (p.Glu698Asp) c.2001A>C (p.Glu667Asp) c.1494A>C (p.Glu498Asp) | |
| 19 | g.4816243T>A | CA403487844 | TICAM1 | c.2135A>T (p.Glu712Val) c.1637A>T (p.Glu546Val) c.2093A>T (p.Glu698Val) c.2000A>T (p.Glu667Val) c.1493A>T (p.Glu498Val) | |
| 19 | g.4816243T>C | CA403487846 | TICAM1 | c.2135A>G (p.Glu712Gly) c.1637A>G (p.Glu546Gly) c.2093A>G (p.Glu698Gly) c.2000A>G (p.Glu667Gly) c.1493A>G (p.Glu498Gly) | |
| 19 | g.4816243T>G | CA403487848 | TICAM1 | c.2135A>C (p.Glu712Ala) c.1637A>C (p.Glu546Ala) c.2093A>C (p.Glu698Ala) c.2000A>C (p.Glu667Ala) c.1493A>C (p.Glu498Ala) | |
| 19 | g.4816244C>A | CA403487850 | TICAM1 | c.2134G>T (p.Glu712Ter) c.1636G>T (p.Glu546Ter) c.2092G>T (p.Glu698Ter) c.1999G>T (p.Glu667Ter) c.1492G>T (p.Glu498Ter) | |
| 19 | g.4816244C>G | CA403487852 | TICAM1 | c.2134G>C (p.Glu712Gln) c.1636G>C (p.Glu546Gln) c.2092G>C (p.Glu698Gln) c.1999G>C (p.Glu667Gln) c.1492G>C (p.Glu498Gln) | |
| 19 | g.4816244C>T | CA403487854 | TICAM1 | c.2134G>A (p.Glu712Lys) c.1636G>A (p.Glu546Lys) c.2092G>A (p.Glu698Lys) c.1999G>A (p.Glu667Lys) c.1492G>A (p.Glu498Lys) | gnomAD v4 |
| 19 | g.4816245T>A | CA505173456 | TICAM1 | c.2133A>T (p.Ala711=) c.1635A>T (p.Ala545=) c.2091A>T (p.Ala697=) c.1998A>T (p.Ala666=) c.1491A>T (p.Ala497=) | |
| 19 | g.4816245T>C | CA505173457 | TICAM1 | c.2133A>G (p.Ala711=) c.1635A>G (p.Ala545=) c.2091A>G (p.Ala697=) c.1998A>G (p.Ala666=) c.1491A>G (p.Ala497=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.4816245T>G | CA505173458 | TICAM1 | c.2133A>C (p.Ala711=) c.1635A>C (p.Ala545=) c.2091A>C (p.Ala697=) c.1998A>C (p.Ala666=) c.1491A>C (p.Ala497=) | |
| 19 | g.4816245T= | CA2319604786 | TICAM1 | c.2133A= (p.Ala711=) c.1635A= (p.Ala545=) c.2091A= (p.Ala697=) c.1998A= (p.Ala666=) c.1491A= (p.Ala497=) | |
| 19 | g.4816246G>A | CA403487857 | TICAM1 | c.2132C>T (p.Ala711Val) c.1634C>T (p.Ala545Val) c.2090C>T (p.Ala697Val) c.1997C>T (p.Ala666Val) c.1490C>T (p.Ala497Val) | gnomAD v4 |
| 19 | g.4816246G>C | CA403487859 | TICAM1 | c.2132C>G (p.Ala711Gly) c.1634C>G (p.Ala545Gly) c.2090C>G (p.Ala697Gly) c.1997C>G (p.Ala666Gly) c.1490C>G (p.Ala497Gly) | |
| 19 | g.4816246G>T | CA403487861 | TICAM1 | c.2132C>A (p.Ala711Glu) c.1634C>A (p.Ala545Glu) c.2090C>A (p.Ala697Glu) c.1997C>A (p.Ala666Glu) c.1490C>A (p.Ala497Glu) | gnomAD v4 |
| 19 | g.4816247C>A | CA403487863 | TICAM1 | c.2131G>T (p.Ala711Ser) c.1633G>T (p.Ala545Ser) c.2089G>T (p.Ala697Ser) c.1996G>T (p.Ala666Ser) c.1489G>T (p.Ala497Ser) | gnomAD v4 |
| 19 | g.4816247C= | CA2319604787 | TICAM1 | c.2131G= (p.Ala711=) c.1633G= (p.Ala545=) c.2089G= (p.Ala697=) c.1996G= (p.Ala666=) c.1489G= (p.Ala497=) | |
| 19 | g.4816247C>G | CA403487866 | TICAM1 | c.2131G>C (p.Ala711Pro) c.1633G>C (p.Ala545Pro) c.2089G>C (p.Ala697Pro) c.1996G>C (p.Ala666Pro) c.1489G>C (p.Ala497Pro) | |
| 19 | g.4816247C>T | CA9104987 | TICAM1 | c.2131G>A (p.Ala711Thr) c.1633G>A (p.Ala545Thr) c.2089G>A (p.Ala697Thr) c.1996G>A (p.Ala666Thr) c.1489G>A (p.Ala497Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.4816248C>A | CA403487871 | TICAM1 | c.2130G>T (p.Glu710Asp) c.1632G>T (p.Glu544Asp) c.2088G>T (p.Glu696Asp) c.1995G>T (p.Glu665Asp) c.1488G>T (p.Glu496Asp) | gnomAD v4 |
| 19 | g.4816248C>G | CA403487870 | TICAM1 | c.2130G>C (p.Glu710Asp) c.1632G>C (p.Glu544Asp) c.2088G>C (p.Glu696Asp) c.1995G>C (p.Glu665Asp) c.1488G>C (p.Glu496Asp) | |
| 19 | g.4816248C>T | CA505173466 | TICAM1 | c.2130G>A (p.Glu710=) c.1632G>A (p.Glu544=) c.2088G>A (p.Glu696=) c.1995G>A (p.Glu665=) c.1488G>A (p.Glu496=) | gnomAD v4 |
| 19 | g.4816249T>A | CA403487875 | TICAM1 | c.2129A>T (p.Glu710Val) c.1631A>T (p.Glu544Val) c.2087A>T (p.Glu696Val) c.1994A>T (p.Glu665Val) c.1487A>T (p.Glu496Val) | |
| 19 | g.4816249T>C | CA403487877 | TICAM1 | c.2129A>G (p.Glu710Gly) c.1631A>G (p.Glu544Gly) c.2087A>G (p.Glu696Gly) c.1994A>G (p.Glu665Gly) c.1487A>G (p.Glu496Gly) | |
| 19 | g.4816249T>G | CA403487879 | TICAM1 | c.2129A>C (p.Glu710Ala) c.1631A>C (p.Glu544Ala) c.2087A>C (p.Glu696Ala) c.1994A>C (p.Glu665Ala) c.1487A>C (p.Glu496Ala) | |
| 19 | g.4816250C>A | CA403487881 | TICAM1 | c.2128G>T (p.Glu710Ter) c.1630G>T (p.Glu544Ter) c.2086G>T (p.Glu696Ter) c.1993G>T (p.Glu665Ter) c.1486G>T (p.Glu496Ter) | |
| 19 | g.4816250C= | CA2319604788 | TICAM1 | c.2128G= (p.Glu710=) c.1630G= (p.Glu544=) c.2086G= (p.Glu696=) c.1993G= (p.Glu665=) c.1486G= (p.Glu496=) | |
| 19 | g.4816250C>G | CA403487883 | TICAM1 | c.2128G>C (p.Glu710Gln) c.1630G>C (p.Glu544Gln) c.2086G>C (p.Glu696Gln) c.1993G>C (p.Glu665Gln) c.1486G>C (p.Glu496Gln) | |
| 19 | g.4816250C>T | CA403487885 | TICAM1 | c.2128G>A (p.Glu710Lys) c.1630G>A (p.Glu544Lys) c.2086G>A (p.Glu696Lys) c.1993G>A (p.Glu665Lys) c.1486G>A (p.Glu496Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.4816251C>A | CA403487888 | TICAM1 | c.2127G>T (p.Gln709His) c.1629G>T (p.Gln543His) c.2085G>T (p.Gln695His) c.1992G>T (p.Gln664His) c.1485G>T (p.Gln495His) | gnomAD v4 |
| 19 | g.4816251C>G | CA403487890 | TICAM1 | c.2127G>C (p.Gln709His) c.1629G>C (p.Gln543His) c.2085G>C (p.Gln695His) c.1992G>C (p.Gln664His) c.1485G>C (p.Gln495His) | |
| 19 | g.4816251C>T | CA505173478 | TICAM1 | c.2127G>A (p.Gln709=) c.1629G>A (p.Gln543=) c.2085G>A (p.Gln695=) c.1992G>A (p.Gln664=) c.1485G>A (p.Gln495=) | |
| 19 | g.4816252T>A | CA403487892 | TICAM1 | c.2126A>T (p.Gln709Leu) c.1628A>T (p.Gln543Leu) c.2084A>T (p.Gln695Leu) c.1991A>T (p.Gln664Leu) c.1484A>T (p.Gln495Leu) | |
| 19 | g.4816252T>C | CA403487894 | TICAM1 | c.2126A>G (p.Gln709Arg) c.1628A>G (p.Gln543Arg) c.2084A>G (p.Gln695Arg) c.1991A>G (p.Gln664Arg) c.1484A>G (p.Gln495Arg) | gnomAD v4 |
| 19 | g.4816252T>G | CA403487895 | TICAM1 | c.2126A>C (p.Gln709Pro) c.1628A>C (p.Gln543Pro) c.2084A>C (p.Gln695Pro) c.1991A>C (p.Gln664Pro) c.1484A>C (p.Gln495Pro) | |
| 19 | g.4816253G>A | CA403487903 | TICAM1 | c.2125C>T (p.Gln709Ter) c.1627C>T (p.Gln543Ter) c.2083C>T (p.Gln695Ter) c.1990C>T (p.Gln664Ter) c.1483C>T (p.Gln495Ter) | |
| 19 | g.4816253G>C | CA403487901 | TICAM1 | c.2125C>G (p.Gln709Glu) c.1627C>G (p.Gln543Glu) c.2083C>G (p.Gln695Glu) c.1990C>G (p.Gln664Glu) c.1483C>G (p.Gln495Glu) | |
| 19 | g.4816253G>T | CA403487898 | TICAM1 | c.2125C>A (p.Gln709Lys) c.1627C>A (p.Gln543Lys) c.2083C>A (p.Gln695Lys) c.1990C>A (p.Gln664Lys) c.1483C>A (p.Gln495Lys) | gnomAD v4 |
| 19 | g.4816254C>A | CA505173480 | TICAM1 | c.2124G>T (p.Thr708=) c.1626G>T (p.Thr542=) c.2082G>T (p.Thr694=) c.1989G>T (p.Thr663=) c.1482G>T (p.Thr494=) | gnomAD v4 |
| 19 | g.4816254C= | CA2319604789 | TICAM1 | c.2124G= (p.Thr708=) c.1626G= (p.Thr542=) c.2082G= (p.Thr694=) c.1989G= (p.Thr663=) c.1482G= (p.Thr494=) | |
| 19 | g.4816254C>G | CA505173481 | TICAM1 | c.2124G>C (p.Thr708=) c.1626G>C (p.Thr542=) c.2082G>C (p.Thr694=) c.1989G>C (p.Thr663=) c.1482G>C (p.Thr494=) | |
| 19 | g.4816254C>T | CA9104988 | TICAM1 | c.2124G>A (p.Thr708=) c.1626G>A (p.Thr542=) c.2082G>A (p.Thr694=) c.1989G>A (p.Thr663=) c.1482G>A (p.Thr494=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.4816255G>A | CA403487907 | TICAM1 | c.2123C>T (p.Thr708Met) c.1625C>T (p.Thr542Met) c.2081C>T (p.Thr694Met) c.1988C>T (p.Thr663Met) c.1481C>T (p.Thr494Met) | gnomAD v4 |
| 19 | g.4816255G>C | CA403487909 | TICAM1 | c.2123C>G (p.Thr708Arg) c.1625C>G (p.Thr542Arg) c.2081C>G (p.Thr694Arg) c.1988C>G (p.Thr663Arg) c.1481C>G (p.Thr494Arg) | |
| 19 | g.4816255G>T | CA403487911 | TICAM1 | c.2123C>A (p.Thr708Lys) c.1625C>A (p.Thr542Lys) c.2081C>A (p.Thr694Lys) c.1988C>A (p.Thr663Lys) c.1481C>A (p.Thr494Lys) | gnomAD v4 |
| 19 | g.4816256T>A | CA403487914 | TICAM1 | c.2122A>T (p.Thr708Ser) c.1624A>T (p.Thr542Ser) c.2080A>T (p.Thr694Ser) c.1987A>T (p.Thr663Ser) c.1480A>T (p.Thr494Ser) | |
| 19 | g.4816256T>C | CA403487916 | TICAM1 | c.2122A>G (p.Thr708Ala) c.1624A>G (p.Thr542Ala) c.2080A>G (p.Thr694Ala) c.1987A>G (p.Thr663Ala) c.1480A>G (p.Thr494Ala) | |
| 19 | g.4816256T>G | CA403487918 | TICAM1 | c.2122A>C (p.Thr708Pro) c.1624A>C (p.Thr542Pro) c.2080A>C (p.Thr694Pro) c.1987A>C (p.Thr663Pro) c.1480A>C (p.Thr494Pro) | |
| 19 | g.4816257C>A | CA403487921 | TICAM1 | c.2121G>T (p.Lys707Asn) c.1623G>T (p.Lys541Asn) c.2079G>T (p.Lys693Asn) c.1986G>T (p.Lys662Asn) c.1479G>T (p.Lys493Asn) | |
| 19 | g.4816257C>G | CA403487923 | TICAM1 | c.2121G>C (p.Lys707Asn) c.1623G>C (p.Lys541Asn) c.2079G>C (p.Lys693Asn) c.1986G>C (p.Lys662Asn) c.1479G>C (p.Lys493Asn) | |
| 19 | g.4816257C>T | CA505173484 | TICAM1 | c.2121G>A (p.Lys707=) c.1623G>A (p.Lys541=) c.2079G>A (p.Lys693=) c.1986G>A (p.Lys662=) c.1479G>A (p.Lys493=) | |
| 19 | g.4816258T>A | CA403487926 | TICAM1 | c.2120A>T (p.Lys707Met) c.1622A>T (p.Lys541Met) c.2078A>T (p.Lys693Met) c.1985A>T (p.Lys662Met) c.1478A>T (p.Lys493Met) | gnomAD v4 |
| 19 | g.4816258T>C | CA403487928 | TICAM1 | c.2120A>G (p.Lys707Arg) c.1622A>G (p.Lys541Arg) c.2078A>G (p.Lys693Arg) c.1985A>G (p.Lys662Arg) c.1478A>G (p.Lys493Arg) | COSMIC |
| 19 | g.4816258T>G | CA403487930 | TICAM1 | c.2120A>C (p.Lys707Thr) c.1622A>C (p.Lys541Thr) c.2078A>C (p.Lys693Thr) c.1985A>C (p.Lys662Thr) c.1478A>C (p.Lys493Thr) | |
| 19 | g.4816259T>A | CA403487936 | TICAM1 | c.2119A>T (p.Lys707Ter) c.1621A>T (p.Lys541Ter) c.2077A>T (p.Lys693Ter) c.1984A>T (p.Lys662Ter) c.1477A>T (p.Lys493Ter) | |
| 19 | g.4816259T>C | CA403487932 | TICAM1 | c.2119A>G (p.Lys707Glu) c.1621A>G (p.Lys541Glu) c.2077A>G (p.Lys693Glu) c.1984A>G (p.Lys662Glu) c.1477A>G (p.Lys493Glu) | dbSNP |
| 19 | g.4816259T>G | CA403487934 | TICAM1 | c.2119A>C (p.Lys707Gln) c.1621A>C (p.Lys541Gln) c.2077A>C (p.Lys693Gln) c.1984A>C (p.Lys662Gln) c.1477A>C (p.Lys493Gln) | |
| 19 | g.4816259T= | CA2319604790 | TICAM1 | c.2119A= (p.Lys707=) c.1621A= (p.Lys541=) c.2077A= (p.Lys693=) c.1984A= (p.Lys662=) c.1477A= (p.Lys493=) | |
| 19 | g.4816260G>A | CA304546833 | TICAM1 | c.2118C>T (p.Asp706=) c.1620C>T (p.Asp540=) c.2076C>T (p.Asp692=) c.1983C>T (p.Asp661=) c.1476C>T (p.Asp492=) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.4816260G>C | CA403487940 | TICAM1 | c.2118C>G (p.Asp706Glu) c.1620C>G (p.Asp540Glu) c.2076C>G (p.Asp692Glu) c.1983C>G (p.Asp661Glu) c.1476C>G (p.Asp492Glu) | dbSNP |
| 19 | g.4816260G= | CA2319604791 | TICAM1 | c.2118C= (p.Asp706=) c.1620C= (p.Asp540=) c.2076C= (p.Asp692=) c.1983C= (p.Asp661=) c.1476C= (p.Asp492=) | |
| 19 | g.4816260G>T | CA403487941 | TICAM1 | c.2118C>A (p.Asp706Glu) c.1620C>A (p.Asp540Glu) c.2076C>A (p.Asp692Glu) c.1983C>A (p.Asp661Glu) c.1476C>A (p.Asp492Glu) | gnomAD v4 |
| 19 | g.4816261T>A | CA403487944 | TICAM1 | c.2117A>T (p.Asp706Val) c.1619A>T (p.Asp540Val) c.2075A>T (p.Asp692Val) c.1982A>T (p.Asp661Val) c.1475A>T (p.Asp492Val) | |
| 19 | g.4816261T>C | CA403487946 | TICAM1 | c.2117A>G (p.Asp706Gly) c.1619A>G (p.Asp540Gly) c.2075A>G (p.Asp692Gly) c.1982A>G (p.Asp661Gly) c.1475A>G (p.Asp492Gly) | gnomAD v4 |
| 19 | g.4816261T>G | CA403487947 | TICAM1 | c.2117A>C (p.Asp706Ala) c.1619A>C (p.Asp540Ala) c.2075A>C (p.Asp692Ala) c.1982A>C (p.Asp661Ala) c.1475A>C (p.Asp492Ala) | |
| 19 | g.4816262C>A | CA403487950 | TICAM1 | c.2116G>T (p.Asp706Tyr) c.1618G>T (p.Asp540Tyr) c.2074G>T (p.Asp692Tyr) c.1981G>T (p.Asp661Tyr) c.1474G>T (p.Asp492Tyr) | gnomAD v4 |
| 19 | g.4816262C>G | CA403487952 | TICAM1 | c.2116G>C (p.Asp706His) c.1618G>C (p.Asp540His) c.2074G>C (p.Asp692His) c.1981G>C (p.Asp661His) c.1474G>C (p.Asp492His) | |
| 19 | g.4816262C>T | CA403487954 | TICAM1 | c.2116G>A (p.Asp706Asn) c.1618G>A (p.Asp540Asn) c.2074G>A (p.Asp692Asn) c.1981G>A (p.Asp661Asn) c.1474G>A (p.Asp492Asn) | |
| 19 | g.4816263C>A | CA403487957 | TICAM1 | c.2115G>T (p.Glu705Asp) c.1617G>T (p.Glu539Asp) c.2073G>T (p.Glu691Asp) c.1980G>T (p.Glu660Asp) c.1473G>T (p.Glu491Asp) | gnomAD v4 |
| 19 | g.4816263C= | CA2319604792 | TICAM1 | c.2115G= (p.Glu705=) c.1617G= (p.Glu539=) c.2073G= (p.Glu691=) c.1980G= (p.Glu660=) c.1473G= (p.Glu491=) | |
| 19 | g.4816263C>G | CA403487958 | TICAM1 | c.2115G>C (p.Glu705Asp) c.1617G>C (p.Glu539Asp) c.2073G>C (p.Glu691Asp) c.1980G>C (p.Glu660Asp) c.1473G>C (p.Glu491Asp) | |
| 19 | g.4816263C>T | CA505173504 | TICAM1 | c.2115G>A (p.Glu705=) c.1617G>A (p.Glu539=) c.2073G>A (p.Glu691=) c.1980G>A (p.Glu660=) c.1473G>A (p.Glu491=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.4816264T>A | CA403487963 | TICAM1 | c.2114A>T (p.Glu705Val) c.1616A>T (p.Glu539Val) c.2072A>T (p.Glu691Val) c.1979A>T (p.Glu660Val) c.1472A>T (p.Glu491Val) | |
| 19 | g.4816264T>C | CA403487965 | TICAM1 | c.2114A>G (p.Glu705Gly) c.1616A>G (p.Glu539Gly) c.2072A>G (p.Glu691Gly) c.1979A>G (p.Glu660Gly) c.1472A>G (p.Glu491Gly) | |
| 19 | g.4816264T>G | CA403487962 | TICAM1 | c.2114A>C (p.Glu705Ala) c.1616A>C (p.Glu539Ala) c.2072A>C (p.Glu691Ala) c.1979A>C (p.Glu660Ala) c.1472A>C (p.Glu491Ala) | |
| 19 | g.4816265C>A | CA403487970 | TICAM1 | c.2113G>T (p.Glu705Ter) c.1615G>T (p.Glu539Ter) c.2071G>T (p.Glu691Ter) c.1978G>T (p.Glu660Ter) c.1471G>T (p.Glu491Ter) | gnomAD v4 |
| 19 | g.4816265C= | CA2319604793 | TICAM1 | c.2113G= (p.Glu705=) c.1615G= (p.Glu539=) c.2071G= (p.Glu691=) c.1978G= (p.Glu660=) c.1471G= (p.Glu491=) | |
| 19 | g.4816265C>G | CA403487968 | TICAM1 | c.2113G>C (p.Glu705Gln) c.1615G>C (p.Glu539Gln) c.2071G>C (p.Glu691Gln) c.1978G>C (p.Glu660Gln) c.1471G>C (p.Glu491Gln) | |
| 19 | g.4816265C>T | CA9104989 | TICAM1 | c.2113G>A (p.Glu705Lys) c.1615G>A (p.Glu539Lys) c.2071G>A (p.Glu691Lys) c.1978G>A (p.Glu660Lys) c.1471G>A (p.Glu491Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.4816266G>A | CA9104990 | TICAM1 | c.2112C>T (p.Pro704=) c.1614C>T (p.Pro538=) c.2070C>T (p.Pro690=) c.1977C>T (p.Pro659=) c.1470C>T (p.Pro490=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.4816266G>C | CA505173513 | TICAM1 | c.2112C>G (p.Pro704=) c.1614C>G (p.Pro538=) c.2070C>G (p.Pro690=) c.1977C>G (p.Pro659=) c.1470C>G (p.Pro490=) | ClinVar dbSNP gnomAD v4 |
| 19 | g.4816266G= | CA2319604794 | TICAM1 | c.2112C= (p.Pro704=) c.1614C= (p.Pro538=) c.2070C= (p.Pro690=) c.1977C= (p.Pro659=) c.1470C= (p.Pro490=) | |
| 19 | g.4816266G>T | CA505173515 | TICAM1 | c.2112C>A (p.Pro704=) c.1614C>A (p.Pro538=) c.2070C>A (p.Pro690=) c.1977C>A (p.Pro659=) c.1470C>A (p.Pro490=) | gnomAD v4 |
| 19 | g.4816267G>A | CA403487972 | TICAM1 | c.2111C>T (p.Pro704Leu) c.1613C>T (p.Pro538Leu) c.2069C>T (p.Pro690Leu) c.1976C>T (p.Pro659Leu) c.1469C>T (p.Pro490Leu) | |
| 19 | g.4816267G>C | CA403487975 | TICAM1 | c.2111C>G (p.Pro704Arg) c.1613C>G (p.Pro538Arg) c.2069C>G (p.Pro690Arg) c.1976C>G (p.Pro659Arg) c.1469C>G (p.Pro490Arg) | |
| 19 | g.4816267G>T | CA403487977 | TICAM1 | c.2111C>A (p.Pro704His) c.1613C>A (p.Pro538His) c.2069C>A (p.Pro690His) c.1976C>A (p.Pro659His) c.1469C>A (p.Pro490His) | gnomAD v4 |
| 19 | g.4816268G>A | CA403487979 | TICAM1 | c.2110C>T (p.Pro704Ser) c.1612C>T (p.Pro538Ser) c.2068C>T (p.Pro690Ser) c.1975C>T (p.Pro659Ser) c.1468C>T (p.Pro490Ser) | dbSNP gnomAD v2 |
| 19 | g.4816268G>C | CA403487981 | TICAM1 | c.2110C>G (p.Pro704Ala) c.1612C>G (p.Pro538Ala) c.2068C>G (p.Pro690Ala) c.1975C>G (p.Pro659Ala) c.1468C>G (p.Pro490Ala) | |
| 19 | g.4816268G= | CA2319604795 | TICAM1 | c.2110C= (p.Pro704=) c.1612C= (p.Pro538=) c.2068C= (p.Pro690=) c.1975C= (p.Pro659=) c.1468C= (p.Pro490=) | |
| 19 | g.4816268G>T | CA403487982 | TICAM1 | c.2110C>A (p.Pro704Thr) c.1612C>A (p.Pro538Thr) c.2068C>A (p.Pro690Thr) c.1975C>A (p.Pro659Thr) c.1468C>A (p.Pro490Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.4816269C>A | CA505173527 | TICAM1 | c.2109G>T (p.Ala703=) c.1611G>T (p.Ala537=) c.2067G>T (p.Ala689=) c.1974G>T (p.Ala658=) c.1467G>T (p.Ala489=) | gnomAD v4 |
| 19 | g.4816269C= | CA2319604796 | TICAM1 | c.2109G= (p.Ala703=) c.1611G= (p.Ala537=) c.2067G= (p.Ala689=) c.1974G= (p.Ala658=) c.1467G= (p.Ala489=) | |
| 19 | g.4816269C>G | CA505173532 | TICAM1 | c.2109G>C (p.Ala703=) c.1611G>C (p.Ala537=) c.2067G>C (p.Ala689=) c.1974G>C (p.Ala658=) c.1467G>C (p.Ala489=) | |
| 19 | g.4816269C>T | CA505173530 | TICAM1 | c.2109G>A (p.Ala703=) c.1611G>A (p.Ala537=) c.2067G>A (p.Ala689=) c.1974G>A (p.Ala658=) c.1467G>A (p.Ala489=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.4816270G>A | CA403487984 | TICAM1 | c.2108C>T (p.Ala703Val) c.1610C>T (p.Ala537Val) c.2066C>T (p.Ala689Val) c.1973C>T (p.Ala658Val) c.1466C>T (p.Ala489Val) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.4816270G>C | CA403487992 | TICAM1 | c.2108C>G (p.Ala703Gly) c.1610C>G (p.Ala537Gly) c.2066C>G (p.Ala689Gly) c.1973C>G (p.Ala658Gly) c.1466C>G (p.Ala489Gly) | |
| 19 | g.4816270G= | CA2319604797 | TICAM1 | c.2108C= (p.Ala703=) c.1610C= (p.Ala537=) c.2066C= (p.Ala689=) c.1973C= (p.Ala658=) c.1466C= (p.Ala489=) | |
| 19 | g.4816270G>T | CA403487994 | TICAM1 | c.2108C>A (p.Ala703Glu) c.1610C>A (p.Ala537Glu) c.2066C>A (p.Ala689Glu) c.1973C>A (p.Ala658Glu) c.1466C>A (p.Ala489Glu) | gnomAD v4 |
| 19 | g.4816271C>A | CA403487998 | TICAM1 | c.2107G>T (p.Ala703Ser) c.1609G>T (p.Ala537Ser) c.2065G>T (p.Ala689Ser) c.1972G>T (p.Ala658Ser) c.1465G>T (p.Ala489Ser) | |
| 19 | g.4816271C= | CA2319604798 | TICAM1 | c.2107G= (p.Ala703=) c.1609G= (p.Ala537=) c.2065G= (p.Ala689=) c.1972G= (p.Ala658=) c.1465G= (p.Ala489=) | |
| 19 | g.4816271C>G | CA403488000 | TICAM1 | c.2107G>C (p.Ala703Pro) c.1609G>C (p.Ala537Pro) c.2065G>C (p.Ala689Pro) c.1972G>C (p.Ala658Pro) c.1465G>C (p.Ala489Pro) | |
| 19 | g.4816271C>T | CA9104991 | TICAM1 | c.2107G>A (p.Ala703Thr) c.1609G>A (p.Ala537Thr) c.2065G>A (p.Ala689Thr) c.1972G>A (p.Ala658Thr) c.1465G>A (p.Ala489Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.4816272C>A | CA403488002 | TICAM1 | c.2106G>T (p.Gln702His) c.1608G>T (p.Gln536His) c.2064G>T (p.Gln688His) c.1971G>T (p.Gln657His) c.1464G>T (p.Gln488His) | |
| 19 | g.4816272C>G | CA403488004 | TICAM1 | c.2106G>C (p.Gln702His) c.1608G>C (p.Gln536His) c.2064G>C (p.Gln688His) c.1971G>C (p.Gln657His) c.1464G>C (p.Gln488His) | |
| 19 | g.4816272C>T | CA505173534 | TICAM1 | c.2106G>A (p.Gln702=) c.1608G>A (p.Gln536=) c.2064G>A (p.Gln688=) c.1971G>A (p.Gln657=) c.1464G>A (p.Gln488=) | |
| 19 | g.4816273T>A | CA403488006 | TICAM1 | c.2105A>T (p.Gln702Leu) c.1607A>T (p.Gln536Leu) c.2063A>T (p.Gln688Leu) c.1970A>T (p.Gln657Leu) c.1463A>T (p.Gln488Leu) | |
| 19 | g.4816273T>C | CA403488007 | TICAM1 | c.2105A>G (p.Gln702Arg) c.1607A>G (p.Gln536Arg) c.2063A>G (p.Gln688Arg) c.1970A>G (p.Gln657Arg) c.1463A>G (p.Gln488Arg) | gnomAD v4 |
| 19 | g.4816273T>G | CA403488009 | TICAM1 | c.2105A>C (p.Gln702Pro) c.1607A>C (p.Gln536Pro) c.2063A>C (p.Gln688Pro) c.1970A>C (p.Gln657Pro) c.1463A>C (p.Gln488Pro) | |
| 19 | g.4816274G>A | CA403488014 | TICAM1 | c.2104C>T (p.Gln702Ter) c.1606C>T (p.Gln536Ter) c.2062C>T (p.Gln688Ter) c.1969C>T (p.Gln657Ter) c.1462C>T (p.Gln488Ter) | gnomAD v4 |
| 19 | g.4816274G>C | CA403488011 | TICAM1 | c.2104C>G (p.Gln702Glu) c.1606C>G (p.Gln536Glu) c.2062C>G (p.Gln688Glu) c.1969C>G (p.Gln657Glu) c.1462C>G (p.Gln488Glu) | |
| 19 | g.4816274G>T | CA403488012 | TICAM1 | c.2104C>A (p.Gln702Lys) c.1606C>A (p.Gln536Lys) c.2062C>A (p.Gln688Lys) c.1969C>A (p.Gln657Lys) c.1462C>A (p.Gln488Lys) | gnomAD v4 |
| 19 | g.4816276del | CA2586031815 | TICAM1 | c.2104del (p.Gln702ArgfsTer?) c.1606del (p.Gln536ArgfsTer?) c.2062del (p.Gln688ArgfsTer?) c.1969del (p.Gln657ArgfsTer?) c.1462del (p.Gln488ArgfsTer?) | gnomAD v4 |
| 19 | g.4816275G>A | CA505173542 | TICAM1 | c.2103C>T (p.Ser701=) c.1605C>T (p.Ser535=) c.2061C>T (p.Ser687=) c.1968C>T (p.Ser656=) c.1461C>T (p.Ser487=) | gnomAD v4 |
| 19 | g.4816275G>C | CA505173543 | TICAM1 | c.2103C>G (p.Ser701=) c.1605C>G (p.Ser535=) c.2061C>G (p.Ser687=) c.1968C>G (p.Ser656=) c.1461C>G (p.Ser487=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.4816275G= | CA2319604799 | TICAM1 | c.2103C= (p.Ser701=) c.1605C= (p.Ser535=) c.2061C= (p.Ser687=) c.1968C= (p.Ser656=) c.1461C= (p.Ser487=) | |
| 19 | g.4816275G>T | CA505173545 | TICAM1 | c.2103C>A (p.Ser701=) c.1605C>A (p.Ser535=) c.2061C>A (p.Ser687=) c.1968C>A (p.Ser656=) c.1461C>A (p.Ser487=) | gnomAD v4 |
| 19 | g.4816276G>A | CA403488017 | TICAM1 | c.2102C>T (p.Ser701Phe) c.1604C>T (p.Ser535Phe) c.2060C>T (p.Ser687Phe) c.1967C>T (p.Ser656Phe) c.1460C>T (p.Ser487Phe) | |
| 19 | g.4816276G>C | CA403488019 | TICAM1 | c.2102C>G (p.Ser701Cys) c.1604C>G (p.Ser535Cys) c.2060C>G (p.Ser687Cys) c.1967C>G (p.Ser656Cys) c.1460C>G (p.Ser487Cys) | |
| 19 | g.4816276G>T | CA403488021 | TICAM1 | c.2102C>A (p.Ser701Tyr) c.1604C>A (p.Ser535Tyr) c.2060C>A (p.Ser687Tyr) c.1967C>A (p.Ser656Tyr) c.1460C>A (p.Ser487Tyr) | gnomAD v4 |
| 19 | g.4816277A= | CA2319604800 | TICAM1 | c.2101T= (p.Ser701=) c.1603T= (p.Ser535=) c.2059T= (p.Ser687=) c.1966T= (p.Ser656=) c.1459T= (p.Ser487=) | |
| 19 | g.4816277A>C | CA403488024 | TICAM1 | c.2101T>G (p.Ser701Ala) c.1603T>G (p.Ser535Ala) c.2059T>G (p.Ser687Ala) c.1966T>G (p.Ser656Ala) c.1459T>G (p.Ser487Ala) | |
| 19 | g.4816277A>G | CA403488025 | TICAM1 | c.2101T>C (p.Ser701Pro) c.1603T>C (p.Ser535Pro) c.2059T>C (p.Ser687Pro) c.1966T>C (p.Ser656Pro) c.1459T>C (p.Ser487Pro) | gnomAD v4 |
| 19 | g.4816277A>T | CA403488027 | TICAM1 | c.2101T>A (p.Ser701Thr) c.1603T>A (p.Ser535Thr) c.2059T>A (p.Ser687Thr) c.1966T>A (p.Ser656Thr) c.1459T>A (p.Ser487Thr) | dbSNP |
| 19 | g.4816278C>A | CA505173551 | TICAM1 | c.2100G>T (p.Gly700=) c.1602G>T (p.Gly534=) c.2058G>T (p.Gly686=) c.1965G>T (p.Gly655=) c.1458G>T (p.Gly486=) | dbSNP gnomAD v4 |
| 19 | g.4816278C= | CA2319604801 | TICAM1 | c.2100G= (p.Gly700=) c.1602G= (p.Gly534=) c.2058G= (p.Gly686=) c.1965G= (p.Gly655=) c.1458G= (p.Gly486=) | |
| 19 | g.4816278C>G | CA505173550 | TICAM1 | c.2100G>C (p.Gly700=) c.1602G>C (p.Gly534=) c.2058G>C (p.Gly686=) c.1965G>C (p.Gly655=) c.1458G>C (p.Gly486=) | |
| 19 | g.4816278C>T | CA9104992 | TICAM1 | c.2100G>A (p.Gly700=) c.1602G>A (p.Gly534=) c.2058G>A (p.Gly686=) c.1965G>A (p.Gly655=) c.1458G>A (p.Gly486=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.4816279C>A | CA403488034 | TICAM1 | c.2099G>T (p.Gly700Val) c.1601G>T (p.Gly534Val) c.2057G>T (p.Gly686Val) c.1964G>T (p.Gly655Val) c.1457G>T (p.Gly486Val) | gnomAD v4 |
| 19 | g.4816279C= | CA2319604802 | TICAM1 | c.2099G= (p.Gly700=) c.1601G= (p.Gly534=) c.2057G= (p.Gly686=) c.1964G= (p.Gly655=) c.1457G= (p.Gly486=) | |
| 19 | g.4816279C>G | CA403488031 | TICAM1 | c.2099G>C (p.Gly700Ala) c.1601G>C (p.Gly534Ala) c.2057G>C (p.Gly686Ala) c.1964G>C (p.Gly655Ala) c.1457G>C (p.Gly486Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.4816279C>T | CA403488032 | TICAM1 | c.2099G>A (p.Gly700Glu) c.1601G>A (p.Gly534Glu) c.2057G>A (p.Gly686Glu) c.1964G>A (p.Gly655Glu) c.1457G>A (p.Gly486Glu) | gnomAD v4 |
| 19 | g.4816280C>A | CA403488036 | TICAM1 | c.2098G>T (p.Gly700Trp) c.1600G>T (p.Gly534Trp) c.2056G>T (p.Gly686Trp) c.1963G>T (p.Gly655Trp) c.1456G>T (p.Gly486Trp) | gnomAD v4 |
| 19 | g.4816280C>G | CA403488038 | TICAM1 | c.2098G>C (p.Gly700Arg) c.1600G>C (p.Gly534Arg) c.2056G>C (p.Gly686Arg) c.1963G>C (p.Gly655Arg) c.1456G>C (p.Gly486Arg) | |
| 19 | g.4816280C>T | CA403488040 | TICAM1 | c.2098G>A (p.Gly700Arg) c.1600G>A (p.Gly534Arg) c.2056G>A (p.Gly686Arg) c.1963G>A (p.Gly655Arg) c.1456G>A (p.Gly486Arg) | |
| 19 | g.4816284_4816285del | CA2586031816 | TICAM1 | c.2097_2098del (p.Gly700ValfsTer?) c.1599_1600del (p.Gly534ValfsTer?) c.2055_2056del (p.Gly686ValfsTer?) c.1962_1963del (p.Gly655ValfsTer?) c.1455_1456del (p.Gly486ValfsTer?) | gnomAD v4 |
| 19 | g.4816281T>A | CA403488042 | TICAM1 | c.2097A>T (p.Arg699Ser) c.1599A>T (p.Arg533Ser) c.2055A>T (p.Arg685Ser) c.1962A>T (p.Arg654Ser) c.1455A>T (p.Arg485Ser) | |
| 19 | g.4816281T>C | CA505173560 | TICAM1 | c.2097A>G (p.Arg699=) c.1599A>G (p.Arg533=) c.2055A>G (p.Arg685=) c.1962A>G (p.Arg654=) c.1455A>G (p.Arg485=) | gnomAD v4 |
| 19 | g.4816281T>G | CA403488044 | TICAM1 | c.2097A>C (p.Arg699Ser) c.1599A>C (p.Arg533Ser) c.2055A>C (p.Arg685Ser) c.1962A>C (p.Arg654Ser) c.1455A>C (p.Arg485Ser) | |
| 19 | g.4816282C>A | CA403488047 | TICAM1 | c.2096G>T (p.Arg699Ile) c.1598G>T (p.Arg533Ile) c.2054G>T (p.Arg685Ile) c.1961G>T (p.Arg654Ile) c.1454G>T (p.Arg485Ile) | |
| 19 | g.4816282C>G | CA403488049 | TICAM1 | c.2096G>C (p.Arg699Thr) c.1598G>C (p.Arg533Thr) c.2054G>C (p.Arg685Thr) c.1961G>C (p.Arg654Thr) c.1454G>C (p.Arg485Thr) | gnomAD v4 |
| 19 | g.4816282C>T | CA403488048 | TICAM1 | c.2096G>A (p.Arg699Lys) c.1598G>A (p.Arg533Lys) c.2054G>A (p.Arg685Lys) c.1961G>A (p.Arg654Lys) c.1454G>A (p.Arg485Lys) | |
| 19 | g.4816283T>A | CA403488051 | TICAM1 | c.2095A>T (p.Arg699Ter) c.1597A>T (p.Arg533Ter) c.2053A>T (p.Arg685Ter) c.1960A>T (p.Arg654Ter) c.1453A>T (p.Arg485Ter) | |
| 19 | g.4816283T>C | CA403488053 | TICAM1 | c.2095A>G (p.Arg699Gly) c.1597A>G (p.Arg533Gly) c.2053A>G (p.Arg685Gly) c.1960A>G (p.Arg654Gly) c.1453A>G (p.Arg485Gly) | gnomAD v4 |
| 19 | g.4816283T>G | CA505173565 | TICAM1 | c.2095A>C (p.Arg699=) c.1597A>C (p.Arg533=) c.2053A>C (p.Arg685=) c.1960A>C (p.Arg654=) c.1453A>C (p.Arg485=) | |
| 19 | g.4816284C>A | CA403488056 | TICAM1 | c.2094G>T (p.Gln698His) c.1596G>T (p.Gln532His) c.2052G>T (p.Gln684His) c.1959G>T (p.Gln653His) c.1452G>T (p.Gln484His) | gnomAD v4 |
| 19 | g.4816284C= | CA2319604803 | TICAM1 | c.2094G= (p.Gln698=) c.1596G= (p.Gln532=) c.2052G= (p.Gln684=) c.1959G= (p.Gln653=) c.1452G= (p.Gln484=) | |
| 19 | g.4816284C>G | CA403488057 | TICAM1 | c.2094G>C (p.Gln698His) c.1596G>C (p.Gln532His) c.2052G>C (p.Gln684His) c.1959G>C (p.Gln653His) c.1452G>C (p.Gln484His) | |
| 19 | g.4816284C>T | CA505173569 | TICAM1 | c.2094G>A (p.Gln698=) c.1596G>A (p.Gln532=) c.2052G>A (p.Gln684=) c.1959G>A (p.Gln653=) c.1452G>A (p.Gln484=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.4816285T>A | CA403488061 | TICAM1 | c.2093A>T (p.Gln698Leu) c.1595A>T (p.Gln532Leu) c.2051A>T (p.Gln684Leu) c.1958A>T (p.Gln653Leu) c.1451A>T (p.Gln484Leu) | |
| 19 | g.4816285T>C | CA403488065 | TICAM1 | c.2093A>G (p.Gln698Arg) c.1595A>G (p.Gln532Arg) c.2051A>G (p.Gln684Arg) c.1958A>G (p.Gln653Arg) c.1451A>G (p.Gln484Arg) | gnomAD v4 |
| 19 | g.4816285T>G | CA403488063 | TICAM1 | c.2093A>C (p.Gln698Pro) c.1595A>C (p.Gln532Pro) c.2051A>C (p.Gln684Pro) c.1958A>C (p.Gln653Pro) c.1451A>C (p.Gln484Pro) | |
| 19 | g.4816286G>A | CA403488067 | TICAM1 | c.2092C>T (p.Gln698Ter) c.1594C>T (p.Gln532Ter) c.2050C>T (p.Gln684Ter) c.1957C>T (p.Gln653Ter) c.1450C>T (p.Gln484Ter) | |
| 19 | g.4816286G>C | CA403488069 | TICAM1 | c.2092C>G (p.Gln698Glu) c.1594C>G (p.Gln532Glu) c.2050C>G (p.Gln684Glu) c.1957C>G (p.Gln653Glu) c.1450C>G (p.Gln484Glu) | |
| 19 | g.4816286G>T | CA403488071 | TICAM1 | c.2092C>A (p.Gln698Lys) c.1594C>A (p.Gln532Lys) c.2050C>A (p.Gln684Lys) c.1957C>A (p.Gln653Lys) c.1450C>A (p.Gln484Lys) | gnomAD v4 |
| 19 | g.4816287G>A | CA9104993 | TICAM1 | c.2091C>T (p.Asn697=) c.1593C>T (p.Asn531=) c.2049C>T (p.Asn683=) c.1956C>T (p.Asn652=) c.1449C>T (p.Asn483=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.4816287G>C | CA403488074 | TICAM1 | c.2091C>G (p.Asn697Lys) c.1593C>G (p.Asn531Lys) c.2049C>G (p.Asn683Lys) c.1956C>G (p.Asn652Lys) c.1449C>G (p.Asn483Lys) | |
| 19 | g.4816287G= | CA2319604804 | TICAM1 | c.2091C= (p.Asn697=) c.1593C= (p.Asn531=) c.2049C= (p.Asn683=) c.1956C= (p.Asn652=) c.1449C= (p.Asn483=) | |
| 19 | g.4816287G>T | CA403488076 | TICAM1 | c.2091C>A (p.Asn697Lys) c.1593C>A (p.Asn531Lys) c.2049C>A (p.Asn683Lys) c.1956C>A (p.Asn652Lys) c.1449C>A (p.Asn483Lys) | gnomAD v4 |
| 19 | g.4816288T>A | CA403488079 | TICAM1 | c.2090A>T (p.Asn697Ile) c.1592A>T (p.Asn531Ile) c.2048A>T (p.Asn683Ile) c.1955A>T (p.Asn652Ile) c.1448A>T (p.Asn483Ile) | |
| 19 | g.4816288T>C | CA403488081 | TICAM1 | c.2090A>G (p.Asn697Ser) c.1592A>G (p.Asn531Ser) c.2048A>G (p.Asn683Ser) c.1955A>G (p.Asn652Ser) c.1448A>G (p.Asn483Ser) | |
| 19 | g.4816288T>G | CA403488082 | TICAM1 | c.2090A>C (p.Asn697Thr) c.1592A>C (p.Asn531Thr) c.2048A>C (p.Asn683Thr) c.1955A>C (p.Asn652Thr) c.1448A>C (p.Asn483Thr) | |
| 19 | g.4816289T>A | CA403488083 | TICAM1 | c.2089A>T (p.Asn697Tyr) c.1591A>T (p.Asn531Tyr) c.2047A>T (p.Asn683Tyr) c.1954A>T (p.Asn652Tyr) c.1447A>T (p.Asn483Tyr) | |
| 19 | g.4816289T>C | CA403488085 | TICAM1 | c.2089A>G (p.Asn697Asp) c.1591A>G (p.Asn531Asp) c.2047A>G (p.Asn683Asp) c.1954A>G (p.Asn652Asp) c.1447A>G (p.Asn483Asp) | |
| 19 | g.4816289T>G | CA403488087 | TICAM1 | c.2089A>C (p.Asn697His) c.1591A>C (p.Asn531His) c.2047A>C (p.Asn683His) c.1954A>C (p.Asn652His) c.1447A>C (p.Asn483His) |