| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.61914625_61914627del | CA2645959045 | PATJ | c.3531_3533del (p.Gly1178del) c.3491-3399_3491-3397del (n.3491-3399_3491-3397del) n.3645_3647del c.1908_1910del (p.Gly637del) c.67_69del c.3381+13166_3381+13168del (n.3381+13166_3381+13168del) c.*1499_*1501del (n.*1499_*1501del) c.2622_2624del (p.Gly875del) c.696_698del (p.Gly233del) | gnomAD v4 |
| 1 | g.61914626G>A | CA882652 | PATJ | c.3532G>A (p.Gly1178Ser) c.3491-3398G>A (n.3491-3398G>A) n.3646G>A c.1909G>A (p.Gly637Ser) c.68G>A c.3381+13167G>A (n.3381+13167G>A) c.*1500G>A (n.*1500G>A) c.2623G>A (p.Gly875Ser) c.697G>A (p.Gly233Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.61914626G>C | CA340548459 | PATJ | c.3532G>C (p.Gly1178Arg) c.3491-3398G>C (n.3491-3398G>C) n.3646G>C c.1909G>C (p.Gly637Arg) c.68G>C c.3381+13167G>C (n.3381+13167G>C) c.*1500G>C (n.*1500G>C) c.2623G>C (p.Gly875Arg) c.697G>C (p.Gly233Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.61914626G= | CA1139849226 | PATJ | c.3532G= (p.Gly1178=) c.3491-3398G= (n.3491-3398G=) n.3646G= c.1909G= (p.Gly637=) c.68G= c.3381+13167G= (n.3381+13167G=) c.*1500G= (n.*1500G=) c.2623G= (p.Gly875=) c.697G= (p.Gly233=) | |
| 1 | g.61914626G>T | CA340548460 | PATJ | c.3532G>T (p.Gly1178Cys) c.3491-3398G>T (n.3491-3398G>T) n.3646G>T c.1909G>T (p.Gly637Cys) c.68G>T c.3381+13167G>T (n.3381+13167G>T) c.*1500G>T (n.*1500G>T) c.2623G>T (p.Gly875Cys) c.697G>T (p.Gly233Cys) | gnomAD v4 COSMIC |
| 1 | g.61914627G>A | CA340548461 | PATJ | c.3533G>A (p.Gly1178Asp) c.3491-3397G>A (n.3491-3397G>A) n.3647G>A c.1910G>A (p.Gly637Asp) c.69G>A c.3381+13168G>A (n.3381+13168G>A) c.*1501G>A (n.*1501G>A) c.2624G>A (p.Gly875Asp) c.698G>A (p.Gly233Asp) | gnomAD v4 |
| 1 | g.61914627G>C | CA882653 | PATJ | c.3533G>C (p.Gly1178Ala) c.3491-3397G>C (n.3491-3397G>C) n.3647G>C c.1910G>C (p.Gly637Ala) c.69G>C c.3381+13168G>C (n.3381+13168G>C) c.*1501G>C (n.*1501G>C) c.2624G>C (p.Gly875Ala) c.698G>C (p.Gly233Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.61914627G= | CA1142197281 | PATJ | c.3533G= (p.Gly1178=) c.3491-3397G= (n.3491-3397G=) n.3647G= c.1910G= (p.Gly637=) c.69G= c.3381+13168G= (n.3381+13168G=) c.*1501G= (n.*1501G=) c.2624G= (p.Gly875=) c.698G= (p.Gly233=) | |
| 1 | g.61914627G>T | CA340548462 | PATJ | c.3533G>T (p.Gly1178Val) c.3491-3397G>T (n.3491-3397G>T) n.3647G>T c.1910G>T (p.Gly637Val) c.69G>T c.3381+13168G>T (n.3381+13168G>T) c.*1501G>T (n.*1501G>T) c.2624G>T (p.Gly875Val) c.698G>T (p.Gly233Val) | |
| 1 | g.61914628T>A | CA417994075 | PATJ | c.3534T>A (p.Gly1178=) c.3491-3396T>A (n.3491-3396T>A) n.3648T>A c.1911T>A (p.Gly637=) c.70T>A c.3381+13169T>A (n.3381+13169T>A) c.*1502T>A (n.*1502T>A) c.2625T>A (p.Gly875=) c.699T>A (p.Gly233=) | gnomAD v4 |
| 1 | g.61914628T>C | CA882654 | PATJ | c.3534T>C (p.Gly1178=) c.3491-3396T>C (n.3491-3396T>C) n.3648T>C c.1911T>C (p.Gly637=) c.70T>C c.3381+13169T>C (n.3381+13169T>C) c.*1502T>C (n.*1502T>C) c.2625T>C (p.Gly875=) c.699T>C (p.Gly233=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.61914628T>G | CA417994076 | PATJ | c.3534T>G (p.Gly1178=) c.3491-3396T>G (n.3491-3396T>G) n.3648T>G c.1911T>G (p.Gly637=) c.70T>G c.3381+13169T>G (n.3381+13169T>G) c.*1502T>G (n.*1502T>G) c.2625T>G (p.Gly875=) c.699T>G (p.Gly233=) | |
| 1 | g.61914628T= | CA1170862918 | PATJ | c.3534T= (p.Gly1178=) c.3491-3396T= (n.3491-3396T=) n.3648T= c.1911T= (p.Gly637=) c.70T= c.3381+13169T= (n.3381+13169T=) c.*1502T= (n.*1502T=) c.2625T= (p.Gly875=) c.699T= (p.Gly233=) | |
| 1 | g.61914629A>C | CA340548465 | PATJ | c.3535A>C (p.Asn1179His) c.3491-3395A>C (n.3491-3395A>C) n.3649A>C c.1912A>C (p.Asn638His) c.71A>C c.3381+13170A>C (n.3381+13170A>C) c.*1503A>C (n.*1503A>C) c.2626A>C (p.Asn876His) c.700A>C (p.Asn234His) | |
| 1 | g.61914629A>G | CA340548464 | PATJ | c.3535A>G (p.Asn1179Asp) c.3491-3395A>G (n.3491-3395A>G) n.3649A>G c.1912A>G (p.Asn638Asp) c.71A>G c.3381+13170A>G (n.3381+13170A>G) c.*1503A>G (n.*1503A>G) c.2626A>G (p.Asn876Asp) c.700A>G (p.Asn234Asp) | gnomAD v4 |
| 1 | g.61914629A>T | CA340548463 | PATJ | c.3535A>T (p.Asn1179Tyr) c.3491-3395A>T (n.3491-3395A>T) n.3649A>T c.1912A>T (p.Asn638Tyr) c.71A>T c.3381+13170A>T (n.3381+13170A>T) c.*1503A>T (n.*1503A>T) c.2626A>T (p.Asn876Tyr) c.700A>T (p.Asn234Tyr) | |
| 1 | g.61914630del | CA2645959046 | PATJ | c.3536del (p.Asn1179ThrfsTer21) c.3491-3394del (n.3491-3394del) n.3650del c.1913del (p.Asn638ThrfsTer21) c.72del c.3381+13171del (n.3381+13171del) c.*1504del (n.*1504del) c.2627del (p.Asn876ThrfsTer21) c.701del (p.Asn234ThrfsTer21) | gnomAD v4 |
| 1 | g.61914630A= | CA1146013350 | PATJ | c.3536A= (p.Asn1179=) c.3491-3394A= (n.3491-3394A=) n.3650A= c.1913A= (p.Asn638=) c.72A= c.3381+13171A= (n.3381+13171A=) c.*1504A= (n.*1504A=) c.2627A= (p.Asn876=) c.701A= (p.Asn234=) | |
| 1 | g.61914630A>C | CA340548466 | PATJ | c.3536A>C (p.Asn1179Thr) c.3491-3394A>C (n.3491-3394A>C) n.3650A>C c.1913A>C (p.Asn638Thr) c.72A>C c.3381+13171A>C (n.3381+13171A>C) c.*1504A>C (n.*1504A>C) c.2627A>C (p.Asn876Thr) c.701A>C (p.Asn234Thr) | |
| 1 | g.61914630A>G | CA882655 | PATJ | c.3536A>G (p.Asn1179Ser) c.3491-3394A>G (n.3491-3394A>G) n.3650A>G c.1913A>G (p.Asn638Ser) c.72A>G c.3381+13171A>G (n.3381+13171A>G) c.*1504A>G (n.*1504A>G) c.2627A>G (p.Asn876Ser) c.701A>G (p.Asn234Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.61914630A>T | CA340548467 | PATJ | c.3536A>T (p.Asn1179Ile) c.3491-3394A>T (n.3491-3394A>T) n.3650A>T c.1913A>T (p.Asn638Ile) c.72A>T c.3381+13171A>T (n.3381+13171A>T) c.*1504A>T (n.*1504A>T) c.2627A>T (p.Asn876Ile) c.701A>T (p.Asn234Ile) | |
| 1 | g.61914631C>A | CA882656 | PATJ | c.3537C>A (p.Asn1179Lys) c.3491-3393C>A (n.3491-3393C>A) n.3651C>A c.1914C>A (p.Asn638Lys) c.73C>A c.3381+13172C>A (n.3381+13172C>A) c.*1505C>A (n.*1505C>A) c.2628C>A (p.Asn876Lys) c.702C>A (p.Asn234Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.61914631C= | CA1170862919 | PATJ | c.3537C= (p.Asn1179=) c.3491-3393C= (n.3491-3393C=) n.3651C= c.1914C= (p.Asn638=) c.73C= c.3381+13172C= (n.3381+13172C=) c.*1505C= (n.*1505C=) c.2628C= (p.Asn876=) c.702C= (p.Asn234=) | |
| 1 | g.61914631C>G | CA340548468 | PATJ | c.3537C>G (p.Asn1179Lys) c.3491-3393C>G (n.3491-3393C>G) n.3651C>G c.1914C>G (p.Asn638Lys) c.73C>G c.3381+13172C>G (n.3381+13172C>G) c.*1505C>G (n.*1505C>G) c.2628C>G (p.Asn876Lys) c.702C>G (p.Asn234Lys) | |
| 1 | g.61914631C>T | CA417994080 | PATJ | c.3537C>T (p.Asn1179=) c.3491-3393C>T (n.3491-3393C>T) n.3651C>T c.1914C>T (p.Asn638=) c.73C>T c.3381+13172C>T (n.3381+13172C>T) c.*1505C>T (n.*1505C>T) c.2628C>T (p.Asn876=) c.702C>T (p.Asn234=) | gnomAD v4 |
| 1 | g.61914632del | CA2645959047 | PATJ | c.3538del (p.Gln1180ArgfsTer20) c.3491-3392del (n.3491-3392del) n.3652del c.1915del (p.Gln639ArgfsTer20) c.74del c.3381+13173del (n.3381+13173del) c.*1506del (n.*1506del) c.2629del (p.Gln877ArgfsTer20) c.703del (p.Gln235ArgfsTer20) | gnomAD v4 |
| 1 | g.61914632C>A | CA340548469 | PATJ | c.3538C>A (p.Gln1180Lys) c.3491-3392C>A (n.3491-3392C>A) n.3652C>A c.1915C>A (p.Gln639Lys) c.74C>A c.3381+13173C>A (n.3381+13173C>A) c.*1506C>A (n.*1506C>A) c.2629C>A (p.Gln877Lys) c.703C>A (p.Gln235Lys) | gnomAD v4 |
| 1 | g.61914632C= | CA1170862920 | PATJ | c.3538C= (p.Gln1180=) c.3491-3392C= (n.3491-3392C=) n.3652C= c.1915C= (p.Gln639=) c.74C= c.3381+13173C= (n.3381+13173C=) c.*1506C= (n.*1506C=) c.2629C= (p.Gln877=) c.703C= (p.Gln235=) | |
| 1 | g.61914632C>G | CA340548470 | PATJ | c.3538C>G (p.Gln1180Glu) c.3491-3392C>G (n.3491-3392C>G) n.3652C>G c.1915C>G (p.Gln639Glu) c.74C>G c.3381+13173C>G (n.3381+13173C>G) c.*1506C>G (n.*1506C>G) c.2629C>G (p.Gln877Glu) c.703C>G (p.Gln235Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.61914632C>T | CA340548471 | PATJ | c.3538C>T (p.Gln1180Ter) c.3491-3392C>T (n.3491-3392C>T) n.3652C>T c.1915C>T (p.Gln639Ter) c.74C>T c.3381+13173C>T (n.3381+13173C>T) c.*1506C>T (n.*1506C>T) c.2629C>T (p.Gln877Ter) c.703C>T (p.Gln235Ter) | gnomAD v4 |
| 1 | g.61914633A= | CA1170862921 | PATJ | c.3539A= (p.Gln1180=) c.3491-3391A= (n.3491-3391A=) n.3653A= c.1916A= (p.Gln639=) c.75A= c.3381+13174A= (n.3381+13174A=) c.*1507A= (n.*1507A=) c.2630A= (p.Gln877=) c.704A= (p.Gln235=) | |
| 1 | g.61914633A>C | CA340548472 | PATJ | c.3539A>C (p.Gln1180Pro) c.3491-3391A>C (n.3491-3391A>C) n.3653A>C c.1916A>C (p.Gln639Pro) c.75A>C c.3381+13174A>C (n.3381+13174A>C) c.*1507A>C (n.*1507A>C) c.2630A>C (p.Gln877Pro) c.704A>C (p.Gln235Pro) | |
| 1 | g.61914633A>G | CA340548473 | PATJ | c.3539A>G (p.Gln1180Arg) c.3491-3391A>G (n.3491-3391A>G) n.3653A>G c.1916A>G (p.Gln639Arg) c.75A>G c.3381+13174A>G (n.3381+13174A>G) c.*1507A>G (n.*1507A>G) c.2630A>G (p.Gln877Arg) c.704A>G (p.Gln235Arg) | dbSNP gnomAD v4 |
| 1 | g.61914633A>T | CA340548474 | PATJ | c.3539A>T (p.Gln1180Leu) c.3491-3391A>T (n.3491-3391A>T) n.3653A>T c.1916A>T (p.Gln639Leu) c.75A>T c.3381+13174A>T (n.3381+13174A>T) c.*1507A>T (n.*1507A>T) c.2630A>T (p.Gln877Leu) c.704A>T (p.Gln235Leu) | |
| 1 | g.61914634G>A | CA417994084 | PATJ | c.3540G>A (p.Gln1180=) c.3491-3390G>A (n.3491-3390G>A) n.3654G>A c.1917G>A (p.Gln639=) c.76G>A c.3381+13175G>A (n.3381+13175G>A) c.*1508G>A (n.*1508G>A) c.2631G>A (p.Gln877=) c.705G>A (p.Gln235=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.61914634G>C | CA340548475 | PATJ | c.3540G>C (p.Gln1180His) c.3491-3390G>C (n.3491-3390G>C) n.3654G>C c.1917G>C (p.Gln639His) c.76G>C c.3381+13175G>C (n.3381+13175G>C) c.*1508G>C (n.*1508G>C) c.2631G>C (p.Gln877His) c.705G>C (p.Gln235His) | gnomAD v4 |
| 1 | g.61914634G= | CA1170862922 | PATJ | c.3540G= (p.Gln1180=) c.3491-3390G= (n.3491-3390G=) n.3654G= c.1917G= (p.Gln639=) c.76G= c.3381+13175G= (n.3381+13175G=) c.*1508G= (n.*1508G=) c.2631G= (p.Gln877=) c.705G= (p.Gln235=) | |
| 1 | g.61914634G>T | CA340548476 | PATJ | c.3540G>T (p.Gln1180His) c.3491-3390G>T (n.3491-3390G>T) n.3654G>T c.1917G>T (p.Gln639His) c.76G>T c.3381+13175G>T (n.3381+13175G>T) c.*1508G>T (n.*1508G>T) c.2631G>T (p.Gln877His) c.705G>T (p.Gln235His) | |
| 1 | g.61914635A>C | CA340548478 | PATJ | c.3541A>C (p.Asn1181His) c.3491-3389A>C (n.3491-3389A>C) n.3655A>C c.1918A>C (p.Asn640His) c.77A>C c.3381+13176A>C (n.3381+13176A>C) c.*1509A>C (n.*1509A>C) c.2632A>C (p.Asn878His) c.706A>C (p.Asn236His) | |
| 1 | g.61914635A>G | CA340548479 | PATJ | c.3541A>G (p.Asn1181Asp) c.3491-3389A>G (n.3491-3389A>G) n.3655A>G c.1918A>G (p.Asn640Asp) c.77A>G c.3381+13176A>G (n.3381+13176A>G) c.*1509A>G (n.*1509A>G) c.2632A>G (p.Asn878Asp) c.706A>G (p.Asn236Asp) | |
| 1 | g.61914635A>T | CA340548477 | PATJ | c.3541A>T (p.Asn1181Tyr) c.3491-3389A>T (n.3491-3389A>T) n.3655A>T c.1918A>T (p.Asn640Tyr) c.77A>T c.3381+13176A>T (n.3381+13176A>T) c.*1509A>T (n.*1509A>T) c.2632A>T (p.Asn878Tyr) c.706A>T (p.Asn236Tyr) | |
| 1 | g.61914636A>C | CA340548480 | PATJ | c.3542A>C (p.Asn1181Thr) c.3491-3388A>C (n.3491-3388A>C) n.3656A>C c.1919A>C (p.Asn640Thr) c.78A>C c.3381+13177A>C (n.3381+13177A>C) c.*1510A>C (n.*1510A>C) c.2633A>C (p.Asn878Thr) c.707A>C (p.Asn236Thr) | gnomAD v4 |
| 1 | g.61914636A>G | CA340548481 | PATJ | c.3542A>G (p.Asn1181Ser) c.3491-3388A>G (n.3491-3388A>G) n.3656A>G c.1919A>G (p.Asn640Ser) c.78A>G c.3381+13177A>G (n.3381+13177A>G) c.*1510A>G (n.*1510A>G) c.2633A>G (p.Asn878Ser) c.707A>G (p.Asn236Ser) | gnomAD v4 |
| 1 | g.61914636A>T | CA340548482 | PATJ | c.3542A>T (p.Asn1181Ile) c.3491-3388A>T (n.3491-3388A>T) n.3656A>T c.1919A>T (p.Asn640Ile) c.78A>T c.3381+13177A>T (n.3381+13177A>T) c.*1510A>T (n.*1510A>T) c.2633A>T (p.Asn878Ile) c.707A>T (p.Asn236Ile) | |
| 1 | g.61914637C>A | CA882657 | PATJ | c.3543C>A (p.Asn1181Lys) c.3491-3387C>A (n.3491-3387C>A) n.3657C>A c.1920C>A (p.Asn640Lys) c.79C>A c.3381+13178C>A (n.3381+13178C>A) c.*1511C>A (n.*1511C>A) c.2634C>A (p.Asn878Lys) c.708C>A (p.Asn236Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.61914637C= | CA1144708892 | PATJ | c.3543C= (p.Asn1181=) c.3491-3387C= (n.3491-3387C=) n.3657C= c.1920C= (p.Asn640=) c.79C= c.3381+13178C= (n.3381+13178C=) c.*1511C= (n.*1511C=) c.2634C= (p.Asn878=) c.708C= (p.Asn236=) | |
| 1 | g.61914637C>G | CA340548483 | PATJ | c.3543C>G (p.Asn1181Lys) c.3491-3387C>G (n.3491-3387C>G) n.3657C>G c.1920C>G (p.Asn640Lys) c.79C>G c.3381+13178C>G (n.3381+13178C>G) c.*1511C>G (n.*1511C>G) c.2634C>G (p.Asn878Lys) c.708C>G (p.Asn236Lys) | |
| 1 | g.61914637C>T | CA417994088 | PATJ | c.3543C>T (p.Asn1181=) c.3491-3387C>T (n.3491-3387C>T) n.3657C>T c.1920C>T (p.Asn640=) c.79C>T c.3381+13178C>T (n.3381+13178C>T) c.*1511C>T (n.*1511C>T) c.2634C>T (p.Asn878=) c.708C>T (p.Asn236=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.61914638del | CA2645959048 | PATJ | c.3544del (p.Gln1182ArgfsTer18) c.3491-3386del (n.3491-3386del) n.3658del c.1921del (p.Gln641ArgfsTer18) c.80del c.3381+13179del (n.3381+13179del) c.*1512del (n.*1512del) c.2635del (p.Gln879ArgfsTer18) c.709del (p.Gln237ArgfsTer18) | gnomAD v4 |
| 1 | g.61914638C>A | CA340548484 | PATJ | c.3544C>A (p.Gln1182Lys) c.3491-3386C>A (n.3491-3386C>A) n.3658C>A c.1921C>A (p.Gln641Lys) c.80C>A c.3381+13179C>A (n.3381+13179C>A) c.*1512C>A (n.*1512C>A) c.2635C>A (p.Gln879Lys) c.709C>A (p.Gln237Lys) | gnomAD v4 |