| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178785990G>A | CA256505 | TTN | c.2228C>T (p.Ala743Val) c.2090C>T (p.Ala697Val) c.2276C>T (p.Ala759Val) c.2135C>T (p.Ala712Val) c.2273C>T (p.Ala758Val) c.2231C>T (p.Ala744Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178785990G>C | CA349500788 | TTN | c.2228C>G (p.Ala743Gly) c.2090C>G (p.Ala697Gly) c.2276C>G (p.Ala759Gly) c.2135C>G (p.Ala712Gly) c.2273C>G (p.Ala758Gly) c.2231C>G (p.Ala744Gly) | |
| 2 | g.178785990G= | CA1310621674 | TTN | c.2228C= (p.Ala743=) c.2090C= (p.Ala697=) c.2276C= (p.Ala759=) c.2135C= (p.Ala712=) c.2273C= (p.Ala758=) c.2231C= (p.Ala744=) | |
| 2 | g.178785990G>T | CA349500789 | TTN | c.2228C>A (p.Ala743Asp) c.2090C>A (p.Ala697Asp) c.2276C>A (p.Ala759Asp) c.2135C>A (p.Ala712Asp) c.2273C>A (p.Ala758Asp) c.2231C>A (p.Ala744Asp) | |
| 2 | g.178785991C>A | CA349500791 | TTN | c.2227G>T (p.Ala743Ser) c.2089G>T (p.Ala697Ser) c.2275G>T (p.Ala759Ser) c.2134G>T (p.Ala712Ser) c.2272G>T (p.Ala758Ser) c.2230G>T (p.Ala744Ser) | gnomAD v4 |
| 2 | g.178785991C= | CA1310621675 | TTN | c.2227G= (p.Ala743=) c.2089G= (p.Ala697=) c.2275G= (p.Ala759=) c.2134G= (p.Ala712=) c.2272G= (p.Ala758=) c.2230G= (p.Ala744=) | |
| 2 | g.178785991C>G | CA349500794 | TTN | c.2227G>C (p.Ala743Pro) c.2089G>C (p.Ala697Pro) c.2275G>C (p.Ala759Pro) c.2134G>C (p.Ala712Pro) c.2272G>C (p.Ala758Pro) c.2230G>C (p.Ala744Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178785991C>T | CA346741 | TTN | c.2227G>A (p.Ala743Thr) c.2089G>A (p.Ala697Thr) c.2275G>A (p.Ala759Thr) c.2134G>A (p.Ala712Thr) c.2272G>A (p.Ala758Thr) c.2230G>A (p.Ala744Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC |
| 2 | g.178785992G>A | CA2005873 | TTN | c.2226C>T (p.Ser742=) c.2088C>T (p.Ser696=) c.2274C>T (p.Ser758=) c.2133C>T (p.Ser711=) c.2271C>T (p.Ser757=) c.2229C>T (p.Ser743=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178785992G>C | CA430282835 | TTN | c.2226C>G (p.Ser742=) c.2088C>G (p.Ser696=) c.2274C>G (p.Ser758=) c.2133C>G (p.Ser711=) c.2271C>G (p.Ser757=) c.2229C>G (p.Ser743=) | |
| 2 | g.178785992G= | CA1310621676 | TTN | c.2226C= (p.Ser742=) c.2088C= (p.Ser696=) c.2274C= (p.Ser758=) c.2133C= (p.Ser711=) c.2271C= (p.Ser757=) c.2229C= (p.Ser743=) | |
| 2 | g.178785992G>T | CA2005872 | TTN | c.2226C>A (p.Ser742=) c.2088C>A (p.Ser696=) c.2274C>A (p.Ser758=) c.2133C>A (p.Ser711=) c.2271C>A (p.Ser757=) c.2229C>A (p.Ser743=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 2 | g.178785993G>A | CA349500840 | TTN | c.2225C>T (p.Ser742Phe) c.2087C>T (p.Ser696Phe) c.2273C>T (p.Ser758Phe) c.2132C>T (p.Ser711Phe) c.2270C>T (p.Ser757Phe) c.2228C>T (p.Ser743Phe) | |
| 2 | g.178785993G>C | CA349500842 | TTN | c.2225C>G (p.Ser742Cys) c.2087C>G (p.Ser696Cys) c.2273C>G (p.Ser758Cys) c.2132C>G (p.Ser711Cys) c.2270C>G (p.Ser757Cys) c.2228C>G (p.Ser743Cys) | |
| 2 | g.178785993G>T | CA349500846 | TTN | c.2225C>A (p.Ser742Tyr) c.2087C>A (p.Ser696Tyr) c.2273C>A (p.Ser758Tyr) c.2132C>A (p.Ser711Tyr) c.2270C>A (p.Ser757Tyr) c.2228C>A (p.Ser743Tyr) | |
| 2 | g.178785993_178785994delinsGA | CA1310621677 | TTN | c.2224_2225delinsTC (p.Ser742=) c.2086_2087delinsTC (p.Ser696=) c.2272_2273delinsTC (p.Ser758=) c.2131_2132delinsTC (p.Ser711=) c.2269_2270delinsTC (p.Ser757=) c.2227_2228delinsTC (p.Ser743=) | |
| 2 | g.178785994A>C | CA349500854 | TTN | c.2224T>G (p.Ser742Ala) c.2086T>G (p.Ser696Ala) c.2272T>G (p.Ser758Ala) c.2131T>G (p.Ser711Ala) c.2269T>G (p.Ser757Ala) c.2227T>G (p.Ser743Ala) | |
| 2 | g.178785994A>G | CA349500867 | TTN | c.2224T>C (p.Ser742Pro) c.2086T>C (p.Ser696Pro) c.2272T>C (p.Ser758Pro) c.2131T>C (p.Ser711Pro) c.2269T>C (p.Ser757Pro) c.2227T>C (p.Ser743Pro) | |
| 2 | g.178785994A>T | CA349500861 | TTN | c.2224T>A (p.Ser742Thr) c.2086T>A (p.Ser696Thr) c.2272T>A (p.Ser758Thr) c.2131T>A (p.Ser711Thr) c.2269T>A (p.Ser757Thr) c.2227T>A (p.Ser743Thr) | |
| 2 | g.178785996del | CA1139657498 | TTN | c.2224del (p.Ser742ProfsTer5) c.2086del (p.Ser696ProfsTer5) c.2272del (p.Ser758ProfsTer5) c.2131del (p.Ser711ProfsTer5) c.2269del (p.Ser757ProfsTer5) c.2227del (p.Ser743ProfsTer5) | ClinVar dbSNP |
| 2 | g.178785995A>C | CA349500872 | TTN | c.2223T>G (p.Ile741Met) c.2085T>G (p.Ile695Met) c.2271T>G (p.Ile757Met) c.2130T>G (p.Ile710Met) c.2268T>G (p.Ile756Met) c.2226T>G (p.Ile742Met) | |
| 2 | g.178785995A>G | CA430282838 | TTN | c.2223T>C (p.Ile741=) c.2085T>C (p.Ile695=) c.2271T>C (p.Ile757=) c.2130T>C (p.Ile710=) c.2268T>C (p.Ile756=) c.2226T>C (p.Ile742=) | |
| 2 | g.178785995A>T | CA430282837 | TTN | c.2223T>A (p.Ile741=) c.2085T>A (p.Ile695=) c.2271T>A (p.Ile757=) c.2130T>A (p.Ile710=) c.2268T>A (p.Ile756=) c.2226T>A (p.Ile742=) | |
| 2 | g.178785996A>C | CA349500885 | TTN | c.2222T>G (p.Ile741Ser) c.2084T>G (p.Ile695Ser) c.2270T>G (p.Ile757Ser) c.2129T>G (p.Ile710Ser) c.2267T>G (p.Ile756Ser) c.2225T>G (p.Ile742Ser) | |
| 2 | g.178785996A>G | CA349500882 | TTN | c.2222T>C (p.Ile741Thr) c.2084T>C (p.Ile695Thr) c.2270T>C (p.Ile757Thr) c.2129T>C (p.Ile710Thr) c.2267T>C (p.Ile756Thr) c.2225T>C (p.Ile742Thr) | gnomAD v4 |
| 2 | g.178785996A>T | CA349500894 | TTN | c.2222T>A (p.Ile741Asn) c.2084T>A (p.Ile695Asn) c.2270T>A (p.Ile757Asn) c.2129T>A (p.Ile710Asn) c.2267T>A (p.Ile756Asn) c.2225T>A (p.Ile742Asn) | |
| 2 | g.178785996_178785997insCA | CA2569530648 | TTN | c.2222_2223insGT (p.Ile741MetfsTer7) c.2084_2085insGT (p.Ile695MetfsTer7) c.2270_2271insGT (p.Ile757MetfsTer7) c.2129_2130insGT (p.Ile710MetfsTer7) c.2267_2268insGT (p.Ile756MetfsTer7) c.2225_2226insGT (p.Ile742MetfsTer7) | |
| 2 | g.178785997T>A | CA349500906 | TTN | c.2221A>T (p.Ile741Phe) c.2083A>T (p.Ile695Phe) c.2269A>T (p.Ile757Phe) c.2128A>T (p.Ile710Phe) c.2266A>T (p.Ile756Phe) c.2224A>T (p.Ile742Phe) | |
| 2 | g.178785997T>C | CA349500919 | TTN | c.2221A>G (p.Ile741Val) c.2083A>G (p.Ile695Val) c.2269A>G (p.Ile757Val) c.2128A>G (p.Ile710Val) c.2266A>G (p.Ile756Val) c.2224A>G (p.Ile742Val) | dbSNP gnomAD v4 |
| 2 | g.178785997T>G | CA349500922 | TTN | c.2221A>C (p.Ile741Leu) c.2083A>C (p.Ile695Leu) c.2269A>C (p.Ile757Leu) c.2128A>C (p.Ile710Leu) c.2266A>C (p.Ile756Leu) c.2224A>C (p.Ile742Leu) | gnomAD v4 |
| 2 | g.178785997T= | CA1310621678 | TTN | c.2221A= (p.Ile741=) c.2083A= (p.Ile695=) c.2269A= (p.Ile757=) c.2128A= (p.Ile710=) c.2266A= (p.Ile756=) c.2224A= (p.Ile742=) | |
| 2 | g.178785998G>A | CA430282839 | TTN | c.2220C>T (p.Arg740=) c.2082C>T (p.Arg694=) c.2268C>T (p.Arg756=) c.2127C>T (p.Arg709=) c.2265C>T (p.Arg755=) c.2223C>T (p.Arg741=) | |
| 2 | g.178785998G>C | CA430282840 | TTN | c.2220C>G (p.Arg740=) c.2082C>G (p.Arg694=) c.2268C>G (p.Arg756=) c.2127C>G (p.Arg709=) c.2265C>G (p.Arg755=) c.2223C>G (p.Arg741=) | |
| 2 | g.178785998G>T | CA430282842 | TTN | c.2220C>A (p.Arg740=) c.2082C>A (p.Arg694=) c.2268C>A (p.Arg756=) c.2127C>A (p.Arg709=) c.2265C>A (p.Arg755=) c.2223C>A (p.Arg741=) | |
| 2 | g.178785999C>A | CA122607 | TTN | c.2219G>T (p.Arg740Leu) c.2081G>T (p.Arg694Leu) c.2267G>T (p.Arg756Leu) c.2126G>T (p.Arg709Leu) c.2264G>T (p.Arg755Leu) c.2222G>T (p.Arg741Leu) | ClinVar dbSNP gnomAD v4 |
| 2 | g.178785999C= | CA1310621679 | TTN | c.2219G= (p.Arg740=) c.2081G= (p.Arg694=) c.2267G= (p.Arg756=) c.2126G= (p.Arg709=) c.2264G= (p.Arg755=) c.2222G= (p.Arg741=) | |
| 2 | g.178785999C>G | CA349500931 | TTN | c.2219G>C (p.Arg740Pro) c.2081G>C (p.Arg694Pro) c.2267G>C (p.Arg756Pro) c.2126G>C (p.Arg709Pro) c.2264G>C (p.Arg755Pro) c.2222G>C (p.Arg741Pro) | |
| 2 | g.178785999C>T | CA2005874 | TTN | c.2219G>A (p.Arg740His) c.2081G>A (p.Arg694His) c.2267G>A (p.Arg756His) c.2126G>A (p.Arg709His) c.2264G>A (p.Arg755His) c.2222G>A (p.Arg741His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC |
| 2 | g.178785999_178786000insTCA | CA2505149940 | TTN | c.2218_2219insTGA (p.Arg740delinsLeuSer) c.2080_2081insTGA (p.Arg694delinsLeuSer) c.2266_2267insTGA (p.Arg756delinsLeuSer) c.2125_2126insTGA (p.Arg709delinsLeuSer) c.2263_2264insTGA (p.Arg755delinsLeuSer) c.2221_2222insTGA (p.Arg741delinsLeuSer) | |
| 2 | g.178786000G>A | CA349500945 | TTN | c.2218C>T (p.Arg740Cys) c.2080C>T (p.Arg694Cys) c.2266C>T (p.Arg756Cys) c.2125C>T (p.Arg709Cys) c.2263C>T (p.Arg755Cys) c.2221C>T (p.Arg741Cys) | gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC |
| 2 | g.178786000G>C | CA349500947 | TTN | c.2218C>G (p.Arg740Gly) c.2080C>G (p.Arg694Gly) c.2266C>G (p.Arg756Gly) c.2125C>G (p.Arg709Gly) c.2263C>G (p.Arg755Gly) c.2221C>G (p.Arg741Gly) | |
| 2 | g.178786000G= | CA1310621680 | TTN | c.2218C= (p.Arg740=) c.2080C= (p.Arg694=) c.2266C= (p.Arg756=) c.2125C= (p.Arg709=) c.2263C= (p.Arg755=) c.2221C= (p.Arg741=) | |
| 2 | g.178786000G>T | CA2005875 | TTN | c.2218C>A (p.Arg740Ser) c.2080C>A (p.Arg694Ser) c.2266C>A (p.Arg756Ser) c.2125C>A (p.Arg709Ser) c.2263C>A (p.Arg755Ser) c.2221C>A (p.Arg741Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178786001T>A | CA349500951 | TTN | c.2217A>T (p.Glu739Asp) c.2079A>T (p.Glu693Asp) c.2265A>T (p.Glu755Asp) c.2124A>T (p.Glu708Asp) c.2262A>T (p.Glu754Asp) c.2220A>T (p.Glu740Asp) | |
| 2 | g.178786001T>C | CA430282843 | TTN | c.2217A>G (p.Glu739=) c.2079A>G (p.Glu693=) c.2265A>G (p.Glu755=) c.2124A>G (p.Glu708=) c.2262A>G (p.Glu754=) c.2220A>G (p.Glu740=) | gnomAD v3 gnomAD v4 |
| 2 | g.178786001T>G | CA349500952 | TTN | c.2217A>C (p.Glu739Asp) c.2079A>C (p.Glu693Asp) c.2265A>C (p.Glu755Asp) c.2124A>C (p.Glu708Asp) c.2262A>C (p.Glu754Asp) c.2220A>C (p.Glu740Asp) | |
| 2 | g.178786001_178786002insGACCTTGGCAGCAGAAACGTGC | CA2504834670 | TTN | c.2216_2217insGCACGTTTCTGCTGCCAAGGTC (p.Arg740HisfsTer16) c.2078_2079insGCACGTTTCTGCTGCCAAGGTC (p.Arg694HisfsTer16) c.2264_2265insGCACGTTTCTGCTGCCAAGGTC (p.Arg756HisfsTer16) c.2123_2124insGCACGTTTCTGCTGCCAAGGTC (p.Arg709HisfsTer16) c.2261_2262insGCACGTTTCTGCTGCCAAGGTC (p.Arg755HisfsTer16) c.2219_2220insGCACGTTTCTGCTGCCAAGGTC (p.Arg741HisfsTer16) | |
| 2 | g.178786002T>A | CA349500960 | TTN | c.2216A>T (p.Glu739Val) c.2078A>T (p.Glu693Val) c.2264A>T (p.Glu755Val) c.2123A>T (p.Glu708Val) c.2261A>T (p.Glu754Val) c.2219A>T (p.Glu740Val) | |
| 2 | g.178786002T>C | CA349500954 | TTN | c.2216A>G (p.Glu739Gly) c.2078A>G (p.Glu693Gly) c.2264A>G (p.Glu755Gly) c.2123A>G (p.Glu708Gly) c.2261A>G (p.Glu754Gly) c.2219A>G (p.Glu740Gly) | |
| 2 | g.178786002T>G | CA349500956 | TTN | c.2216A>C (p.Glu739Ala) c.2078A>C (p.Glu693Ala) c.2264A>C (p.Glu755Ala) c.2123A>C (p.Glu708Ala) c.2261A>C (p.Glu754Ala) c.2219A>C (p.Glu740Ala) |