Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.125481497dup | CA2672012527 | FAT4 | c.12605-24dup (n.12605-24dup) c.7376-24dup (n.7376-24dup) c.7322-24dup (n.7322-24dup) c.12599-24dup (n.12599-24dup) | gnomAD v4 |
4 | g.125481497del | CA2672012528 | FAT4 | c.12605-24del (n.12605-24del) c.7376-24del (n.7376-24del) c.7322-24del (n.7322-24del) c.12599-24del (n.12599-24del) | gnomAD v4 |
4 | g.125481497T>G | CA2672012530 | FAT4 | c.12605-24T>G (n.12605-24T>G) c.7376-24T>G (n.7376-24T>G) c.7322-24T>G (n.7322-24T>G) c.12599-24T>G (n.12599-24T>G) | gnomAD v4 |
4 | g.125481497T= | CA1491668415 | FAT4 | c.12605-24T= (n.12605-24T=) c.7376-24T= (n.7376-24T=) c.7322-24T= (n.7322-24T=) c.12599-24T= (n.12599-24T=) | |
4 | g.125481498C= | CA1491668418 | FAT4 | c.12605-23C= (n.12605-23C=) c.7376-23C= (n.7376-23C=) c.7322-23C= (n.7322-23C=) c.12599-23C= (n.12599-23C=) | |
4 | g.125481498C>G | CA2672012531 | FAT4 | c.12605-23C>G (n.12605-23C>G) c.7376-23C>G (n.7376-23C>G) c.7322-23C>G (n.7322-23C>G) c.12599-23C>G (n.12599-23C>G) | gnomAD v4 |
4 | g.125481498C>T | CA3074159 | FAT4 | c.12605-23C>T (n.12605-23C>T) c.7376-23C>T (n.7376-23C>T) c.7322-23C>T (n.7322-23C>T) c.12599-23C>T (n.12599-23C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.125481500dup | CA786670914 | FAT4 | c.12605-21dup (n.12605-21dup) c.7376-21dup (n.7376-21dup) c.7322-21dup (n.7322-21dup) c.12599-21dup (n.12599-21dup) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.125481499C>A | CA2672012532 | FAT4 | c.12605-22C>A (n.12605-22C>A) c.7376-22C>A (n.7376-22C>A) c.7322-22C>A (n.7322-22C>A) c.12599-22C>A (n.12599-22C>A) | gnomAD v4 |
4 | g.125481499C>G | CA2672012533 | FAT4 | c.12605-22C>G (n.12605-22C>G) c.7376-22C>G (n.7376-22C>G) c.7322-22C>G (n.7322-22C>G) c.12599-22C>G (n.12599-22C>G) | gnomAD v4 |
4 | g.125481499C>T | CA2672012534 | FAT4 | c.12605-22C>T (n.12605-22C>T) c.7376-22C>T (n.7376-22C>T) c.7322-22C>T (n.7322-22C>T) c.12599-22C>T (n.12599-22C>T) | gnomAD v4 |
4 | g.125481500C= | CA1491668420 | FAT4 | c.12605-21C= (n.12605-21C=) c.7376-21C= (n.7376-21C=) c.7322-21C= (n.7322-21C=) c.12599-21C= (n.12599-21C=) | |
4 | g.125481500C>T | CA554719883 | FAT4 | c.12605-21C>T (n.12605-21C>T) c.7376-21C>T (n.7376-21C>T) c.7322-21C>T (n.7322-21C>T) c.12599-21C>T (n.12599-21C>T) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.125481501T>C | CA2672012536 | FAT4 | c.12605-20T>C (n.12605-20T>C) c.7376-20T>C (n.7376-20T>C) c.7322-20T>C (n.7322-20T>C) c.12599-20T>C (n.12599-20T>C) | gnomAD v4 |
4 | g.125481501T>G | CA1491668424 | FAT4 | c.12605-20T>G (n.12605-20T>G) c.7376-20T>G (n.7376-20T>G) c.7322-20T>G (n.7322-20T>G) c.12599-20T>G (n.12599-20T>G) | dbSNP gnomAD v4 |
4 | g.125481501T= | CA1491668422 | FAT4 | c.12605-20T= (n.12605-20T=) c.7376-20T= (n.7376-20T=) c.7322-20T= (n.7322-20T=) c.12599-20T= (n.12599-20T=) | |
4 | g.125481506dup | CA2578191267 | FAT4 | c.12605-15dup (n.12605-15dup) c.7376-15dup (n.7376-15dup) c.7322-15dup (n.7322-15dup) c.12599-15dup (n.12599-15dup) | gnomAD v4 |
4 | g.125481506del | CA2672012535 | FAT4 | c.12605-15del (n.12605-15del) c.7376-15del (n.7376-15del) c.7322-15del (n.7322-15del) c.12599-15del (n.12599-15del) | gnomAD v4 |
4 | g.125481503T>A | CA554719884 | FAT4 | c.12605-18T>A (n.12605-18T>A) c.7376-18T>A (n.7376-18T>A) c.7322-18T>A (n.7322-18T>A) c.12599-18T>A (n.12599-18T>A) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.125481503T>G | CA1491668428 | FAT4 | c.12605-18T>G (n.12605-18T>G) c.7376-18T>G (n.7376-18T>G) c.7322-18T>G (n.7322-18T>G) c.12599-18T>G (n.12599-18T>G) | dbSNP |
4 | g.125481503T= | CA1491668426 | FAT4 | c.12605-18T= (n.12605-18T=) c.7376-18T= (n.7376-18T=) c.7322-18T= (n.7322-18T=) c.12599-18T= (n.12599-18T=) | |
4 | g.125481504T>A | CA2672012537 | FAT4 | c.12605-17T>A (n.12605-17T>A) c.7376-17T>A (n.7376-17T>A) c.7322-17T>A (n.7322-17T>A) c.12599-17T>A (n.12599-17T>A) | gnomAD v4 |
4 | g.125481504T>C | CA3074160 | FAT4 | c.12605-17T>C (n.12605-17T>C) c.7376-17T>C (n.7376-17T>C) c.7322-17T>C (n.7322-17T>C) c.12599-17T>C (n.12599-17T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.125481504T= | CA1491668430 | FAT4 | c.12605-17T= (n.12605-17T=) c.7376-17T= (n.7376-17T=) c.7322-17T= (n.7322-17T=) c.12599-17T= (n.12599-17T=) | |
4 | g.125481505T>A | CA554719885 | FAT4 | c.12605-16T>A (n.12605-16T>A) c.7376-16T>A (n.7376-16T>A) c.7322-16T>A (n.7322-16T>A) c.12599-16T>A (n.12599-16T>A) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.125481505T= | CA1491668431 | FAT4 | c.12605-16T= (n.12605-16T=) c.7376-16T= (n.7376-16T=) c.7322-16T= (n.7322-16T=) c.12599-16T= (n.12599-16T=) | |
4 | g.125481506T>A | CA1491668436 | FAT4 | c.12605-15T>A (n.12605-15T>A) c.7376-15T>A (n.7376-15T>A) c.7322-15T>A (n.7322-15T>A) c.12599-15T>A (n.12599-15T>A) | dbSNP |
4 | g.125481506T>C | CA1491668434 | FAT4 | c.12605-15T>C (n.12605-15T>C) c.7376-15T>C (n.7376-15T>C) c.7322-15T>C (n.7322-15T>C) c.12599-15T>C (n.12599-15T>C) | dbSNP |
4 | g.125481506T= | CA1491668433 | FAT4 | c.12605-15T= (n.12605-15T=) c.7376-15T= (n.7376-15T=) c.7322-15T= (n.7322-15T=) c.12599-15T= (n.12599-15T=) | |
4 | g.125481507C= | CA1491668438 | FAT4 | c.12605-14C= (n.12605-14C=) c.7376-14C= (n.7376-14C=) c.7322-14C= (n.7322-14C=) c.12599-14C= (n.12599-14C=) | |
4 | g.125481507C>T | CA554719886 | FAT4 | c.12605-14C>T (n.12605-14C>T) c.7376-14C>T (n.7376-14C>T) c.7322-14C>T (n.7322-14C>T) c.12599-14C>T (n.12599-14C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.125481507_125481508del | CA2672012538 | FAT4 | c.12605-14_12605-13del (n.12605-14_12605-13del) c.7376-14_7376-13del (n.7376-14_7376-13del) c.7322-14_7322-13del (n.7322-14_7322-13del) c.12599-14_12599-13del (n.12599-14_12599-13del) | gnomAD v4 |
4 | g.125481508C= | CA1491668442 | FAT4 | c.12605-13C= (n.12605-13C=) c.7376-13C= (n.7376-13C=) c.7322-13C= (n.7322-13C=) c.12599-13C= (n.12599-13C=) | |
4 | g.125481508C>T | CA554719889 | FAT4 | c.12605-13C>T (n.12605-13C>T) c.7376-13C>T (n.7376-13C>T) c.7322-13C>T (n.7322-13C>T) c.12599-13C>T (n.12599-13C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.125481509T>A | CA1067680059 | FAT4 | c.12605-12T>A (n.12605-12T>A) c.7376-12T>A (n.7376-12T>A) c.7322-12T>A (n.7322-12T>A) c.12599-12T>A (n.12599-12T>A) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.125481509T= | CA1491668445 | FAT4 | c.12605-12T= (n.12605-12T=) c.7376-12T= (n.7376-12T=) c.7322-12T= (n.7322-12T=) c.12599-12T= (n.12599-12T=) | |
4 | g.125481510T>C | CA1491668448 | FAT4 | c.12605-11T>C (n.12605-11T>C) c.7376-11T>C (n.7376-11T>C) c.7322-11T>C (n.7322-11T>C) c.12599-11T>C (n.12599-11T>C) | dbSNP |
4 | g.125481510T= | CA1491668447 | FAT4 | c.12605-11T= (n.12605-11T=) c.7376-11T= (n.7376-11T=) c.7322-11T= (n.7322-11T=) c.12599-11T= (n.12599-11T=) | |
4 | g.125481512G= | CA1491668450 | FAT4 | c.12605-9G= (n.12605-9G=) c.7376-9G= (n.7376-9G=) c.7322-9G= (n.7322-9G=) c.12599-9G= (n.12599-9G=) | |
4 | g.125481512G>T | CA554719890 | FAT4 | c.12605-9G>T (n.12605-9G>T) c.7376-9G>T (n.7376-9G>T) c.7322-9G>T (n.7322-9G>T) c.12599-9G>T (n.12599-9G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.125481512_125481514del | CA2672012539 | FAT4 | c.12605-9_12605-7del (n.12605-9_12605-7del) c.7376-9_7376-7del (n.7376-9_7376-7del) c.7322-9_7322-7del (n.7322-9_7322-7del) c.12599-9_12599-7del (n.12599-9_12599-7del) | gnomAD v4 |
4 | g.125481513A= | CA1491668455 | FAT4 | c.12605-8A= (n.12605-8A=) c.7376-8A= (n.7376-8A=) c.7322-8A= (n.7322-8A=) c.12599-8A= (n.12599-8A=) | |
4 | g.125481513A>T | CA554719891 | FAT4 | c.12605-8A>T (n.12605-8A>T) c.7376-8A>T (n.7376-8A>T) c.7322-8A>T (n.7322-8A>T) c.12599-8A>T (n.12599-8A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.125481514C= | CA1491668461 | FAT4 | c.12605-7C= (n.12605-7C=) c.7376-7C= (n.7376-7C=) c.7322-7C= (n.7322-7C=) c.12599-7C= (n.12599-7C=) | |
4 | g.125481514C>T | CA554719893 | FAT4 | c.12605-7C>T (n.12605-7C>T) c.7376-7C>T (n.7376-7C>T) c.7322-7C>T (n.7322-7C>T) c.12599-7C>T (n.12599-7C>T) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.125481516T>C | CA2517573928 | FAT4 | c.12605-5T>C (n.12605-5T>C) c.7376-5T>C (n.7376-5T>C) c.7322-5T>C (n.7322-5T>C) c.12599-5T>C (n.12599-5T>C) | |
4 | g.125481516T>G | CA2672012540 | FAT4 | c.12605-5T>G (n.12605-5T>G) c.7376-5T>G (n.7376-5T>G) c.7322-5T>G (n.7322-5T>G) c.12599-5T>G (n.12599-5T>G) | gnomAD v4 |
4 | g.125481517C>A | CA3074161 | FAT4 | c.12605-4C>A (n.12605-4C>A) c.7376-4C>A (n.7376-4C>A) c.7322-4C>A (n.7322-4C>A) c.12599-4C>A (n.12599-4C>A) | dbSNP ExAC gnomAD v2 |
4 | g.125481517C= | CA1491668467 | FAT4 | c.12605-4C= (n.12605-4C=) c.7376-4C= (n.7376-4C=) c.7322-4C= (n.7322-4C=) c.12599-4C= (n.12599-4C=) | |
4 | g.125481517C>T | CA554719895 | FAT4 | c.12605-4C>T (n.12605-4C>T) c.7376-4C>T (n.7376-4C>T) c.7322-4C>T (n.7322-4C>T) c.12599-4C>T (n.12599-4C>T) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.125481518C>T | CA2672012541 | FAT4 | c.12605-3C>T (n.12605-3C>T) c.7376-3C>T (n.7376-3C>T) c.7322-3C>T (n.7322-3C>T) c.12599-3C>T (n.12599-3C>T) | gnomAD v4 |
4 | g.125481519A>C | CA358132393 | FAT4 | c.12605-2A>C (n.12605-2A>C) c.7376-2A>C (n.7376-2A>C) c.7322-2A>C (n.7322-2A>C) c.12599-2A>C (n.12599-2A>C) | |
4 | g.125481519A>G | CA358132392 | FAT4 | c.12605-2A>G (n.12605-2A>G) c.7376-2A>G (n.7376-2A>G) c.7322-2A>G (n.7322-2A>G) c.12599-2A>G (n.12599-2A>G) | |
4 | g.125481519A>T | CA358132391 | FAT4 | c.12605-2A>T (n.12605-2A>T) c.7376-2A>T (n.7376-2A>T) c.7322-2A>T (n.7322-2A>T) c.12599-2A>T (n.12599-2A>T) | |
4 | g.125481520G>A | CA358132394 | FAT4 | c.12605-1G>A (n.12605-1G>A) c.7376-1G>A (n.7376-1G>A) c.7322-1G>A (n.7322-1G>A) c.12599-1G>A (n.12599-1G>A) | |
4 | g.125481520G>C | CA358132395 | FAT4 | c.12605-1G>C (n.12605-1G>C) c.7376-1G>C (n.7376-1G>C) c.7322-1G>C (n.7322-1G>C) c.12599-1G>C (n.12599-1G>C) | |
4 | g.125481520G= | CA1491668479 | FAT4 | c.12605-1G= (n.12605-1G=) c.7376-1G= (n.7376-1G=) c.7322-1G= (n.7322-1G=) c.12599-1G= (n.12599-1G=) | |
4 | g.125481520G>T | CA358132396 | FAT4 | c.12605-1G>T (n.12605-1G>T) c.7376-1G>T (n.7376-1G>T) c.7322-1G>T (n.7322-1G>T) c.12599-1G>T (n.12599-1G>T) | dbSNP gnomAD v2 |
4 | g.125481521C>A | CA358132397 | FAT4 | c.12605C>A (p.Ser4202Tyr) c.7376C>A (p.Ser2459Tyr) c.7322C>A (p.Thr2441Asn) c.12599C>A (p.Ser4200Tyr) | |
4 | g.125481521C>G | CA358132398 | FAT4 | c.12605C>G (p.Ser4202Cys) c.7376C>G (p.Ser2459Cys) c.7322C>G (p.Thr2441Ser) c.12599C>G (p.Ser4200Cys) | |
4 | g.125481521C>T | CA358132399 | FAT4 | c.12605C>T (p.Ser4202Phe) c.7376C>T (p.Ser2459Phe) c.7322C>T (p.Thr2441Ile) c.12599C>T (p.Ser4200Phe) | |
4 | g.125481522T>A | CA441204489 | FAT4 | c.12606T>A (p.Ser4202=) c.7377T>A (p.Ser2459=) c.7323T>A (p.Thr2441=) c.12600T>A (p.Ser4200=) | |
4 | g.125481522T>C | CA441204491 | FAT4 | c.12606T>C (p.Ser4202=) c.7377T>C (p.Ser2459=) c.7323T>C (p.Thr2441=) c.12600T>C (p.Ser4200=) | |
4 | g.125481522T>G | CA441204490 | FAT4 | c.12606T>G (p.Ser4202=) c.7377T>G (p.Ser2459=) c.7323T>G (p.Thr2441=) c.12600T>G (p.Ser4200=) | |
4 | g.125481523G>A | CA358132400 | FAT4 | c.12607G>A (p.Val4203Ile) c.7378G>A (p.Val2460Ile) c.7324G>A (p.Val2442Ile) c.12601G>A (p.Val4201Ile) | |
4 | g.125481523G>C | CA358132401 | FAT4 | c.12607G>C (p.Val4203Leu) c.7378G>C (p.Val2460Leu) c.7324G>C (p.Val2442Leu) c.12601G>C (p.Val4201Leu) | |
4 | g.125481523G>T | CA358132402 | FAT4 | c.12607G>T (p.Val4203Phe) c.7378G>T (p.Val2460Phe) c.7324G>T (p.Val2442Phe) c.12601G>T (p.Val4201Phe) | |
4 | g.125481524T>A | CA358132403 | FAT4 | c.12608T>A (p.Val4203Asp) c.7379T>A (p.Val2460Asp) c.7325T>A (p.Val2442Asp) c.12602T>A (p.Val4201Asp) | |
4 | g.125481524T>C | CA358132404 | FAT4 | c.12608T>C (p.Val4203Ala) c.7379T>C (p.Val2460Ala) c.7325T>C (p.Val2442Ala) c.12602T>C (p.Val4201Ala) | |
4 | g.125481524T>G | CA358132405 | FAT4 | c.12608T>G (p.Val4203Gly) c.7379T>G (p.Val2460Gly) c.7325T>G (p.Val2442Gly) c.12602T>G (p.Val4201Gly) | |
4 | g.125481525T>A | CA441204493 | FAT4 | c.12609T>A (p.Val4203=) c.7380T>A (p.Val2460=) c.7326T>A (p.Val2442=) c.12603T>A (p.Val4201=) | |
4 | g.125481525T>C | CA441204494 | FAT4 | c.12609T>C (p.Val4203=) c.7380T>C (p.Val2460=) c.7326T>C (p.Val2442=) c.12603T>C (p.Val4201=) | gnomAD v4 |
4 | g.125481525T>G | CA441204495 | FAT4 | c.12609T>G (p.Val4203=) c.7380T>G (p.Val2460=) c.7326T>G (p.Val2442=) c.12603T>G (p.Val4201=) | |
4 | g.125481526A>C | CA358132407 | FAT4 | c.12610A>C (p.Thr4204Pro) c.7381A>C (p.Thr2461Pro) c.7327A>C (p.Thr2443Pro) c.12604A>C (p.Thr4202Pro) | |
4 | g.125481526A>G | CA358132408 | FAT4 | c.12610A>G (p.Thr4204Ala) c.7381A>G (p.Thr2461Ala) c.7327A>G (p.Thr2443Ala) c.12604A>G (p.Thr4202Ala) | |
4 | g.125481526A>T | CA358132406 | FAT4 | c.12610A>T (p.Thr4204Ser) c.7381A>T (p.Thr2461Ser) c.7327A>T (p.Thr2443Ser) c.12604A>T (p.Thr4202Ser) | |
4 | g.125481527C>A | CA358132409 | FAT4 | c.12611C>A (p.Thr4204Asn) c.7382C>A (p.Thr2461Asn) c.7328C>A (p.Thr2443Asn) c.12605C>A (p.Thr4202Asn) | gnomAD v4 |
4 | g.125481527C= | CA1491668488 | FAT4 | c.12611C= (p.Thr4204=) c.7382C= (p.Thr2461=) c.7328C= (p.Thr2443=) c.12605C= (p.Thr4202=) | |
4 | g.125481527C>G | CA358132410 | FAT4 | c.12611C>G (p.Thr4204Ser) c.7382C>G (p.Thr2461Ser) c.7328C>G (p.Thr2443Ser) c.12605C>G (p.Thr4202Ser) | |
4 | g.125481527C>T | CA358132411 | FAT4 | c.12611C>T (p.Thr4204Ile) c.7382C>T (p.Thr2461Ile) c.7328C>T (p.Thr2443Ile) c.12605C>T (p.Thr4202Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
4 | g.125481528T>A | CA441204496 | FAT4 | c.12612T>A (p.Thr4204=) c.7383T>A (p.Thr2461=) c.7329T>A (p.Thr2443=) c.12606T>A (p.Thr4202=) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.125481528T>C | CA441204497 | FAT4 | c.12612T>C (p.Thr4204=) c.7383T>C (p.Thr2461=) c.7329T>C (p.Thr2443=) c.12606T>C (p.Thr4202=) | |
4 | g.125481528T>G | CA441204498 | FAT4 | c.12612T>G (p.Thr4204=) c.7383T>G (p.Thr2461=) c.7329T>G (p.Thr2443=) c.12606T>G (p.Thr4202=) | |
4 | g.125481528T= | CA1491668497 | FAT4 | c.12612T= (p.Thr4204=) c.7383T= (p.Thr2461=) c.7329T= (p.Thr2443=) c.12606T= (p.Thr4202=) | |
4 | g.125481529C>A | CA358132412 | FAT4 | c.12613C>A (p.Pro4205Thr) c.7384C>A (p.Pro2462Thr) c.7330C>A (p.Pro2444Thr) c.12607C>A (p.Pro4203Thr) | |
4 | g.125481529C= | CA1491668505 | FAT4 | c.12613C= (p.Pro4205=) c.7384C= (p.Pro2462=) c.7330C= (p.Pro2444=) c.12607C= (p.Pro4203=) | |
4 | g.125481529C>G | CA358132413 | FAT4 | c.12613C>G (p.Pro4205Ala) c.7384C>G (p.Pro2462Ala) c.7330C>G (p.Pro2444Ala) c.12607C>G (p.Pro4203Ala) | |
4 | g.125481529C>T | CA104870334 | FAT4 | c.12613C>T (p.Pro4205Ser) c.7384C>T (p.Pro2462Ser) c.7330C>T (p.Pro2444Ser) c.12607C>T (p.Pro4203Ser) | dbSNP gnomAD v4 |
4 | g.125481530C>A | CA358132414 | FAT4 | c.12614C>A (p.Pro4205His) c.7385C>A (p.Pro2462His) c.7331C>A (p.Pro2444His) c.12608C>A (p.Pro4203His) | |
4 | g.125481530C>G | CA358132415 | FAT4 | c.12614C>G (p.Pro4205Arg) c.7385C>G (p.Pro2462Arg) c.7331C>G (p.Pro2444Arg) c.12608C>G (p.Pro4203Arg) | |
4 | g.125481530C>T | CA358132416 | FAT4 | c.12614C>T (p.Pro4205Leu) c.7385C>T (p.Pro2462Leu) c.7331C>T (p.Pro2444Leu) c.12608C>T (p.Pro4203Leu) | |
4 | g.125481531T>A | CA441204499 | FAT4 | c.12615T>A (p.Pro4205=) c.7386T>A (p.Pro2462=) c.7332T>A (p.Pro2444=) c.12609T>A (p.Pro4203=) | |
4 | g.125481531T>C | CA441204500 | FAT4 | c.12615T>C (p.Pro4205=) c.7386T>C (p.Pro2462=) c.7332T>C (p.Pro2444=) c.12609T>C (p.Pro4203=) | gnomAD v4 |
4 | g.125481531T>G | CA441204501 | FAT4 | c.12615T>G (p.Pro4205=) c.7386T>G (p.Pro2462=) c.7332T>G (p.Pro2444=) c.12609T>G (p.Pro4203=) | |
4 | g.125481532G>A | CA358132417 | FAT4 | c.12616G>A (p.Asp4206Asn) c.7387G>A (p.Asp2463Asn) c.7333G>A (p.Asp2445Asn) c.12610G>A (p.Asp4204Asn) | dbSNP |
4 | g.125481532G>C | CA358132418 | FAT4 | c.12616G>C (p.Asp4206His) c.7387G>C (p.Asp2463His) c.7333G>C (p.Asp2445His) c.12610G>C (p.Asp4204His) | |
4 | g.125481532G= | CA1491668513 | FAT4 | c.12616G= (p.Asp4206=) c.7387G= (p.Asp2463=) c.7333G= (p.Asp2445=) c.12610G= (p.Asp4204=) | |
4 | g.125481532G>T | CA358132419 | FAT4 | c.12616G>T (p.Asp4206Tyr) c.7387G>T (p.Asp2463Tyr) c.7333G>T (p.Asp2445Tyr) c.12610G>T (p.Asp4204Tyr) | |
4 | g.125481533A>C | CA358132421 | FAT4 | c.12617A>C (p.Asp4206Ala) c.7388A>C (p.Asp2463Ala) c.7334A>C (p.Asp2445Ala) c.12611A>C (p.Asp4204Ala) | |
4 | g.125481533A>G | CA358132422 | FAT4 | c.12617A>G (p.Asp4206Gly) c.7388A>G (p.Asp2463Gly) c.7334A>G (p.Asp2445Gly) c.12611A>G (p.Asp4204Gly) | |
4 | g.125481533A>T | CA358132420 | FAT4 | c.12617A>T (p.Asp4206Val) c.7388A>T (p.Asp2463Val) c.7334A>T (p.Asp2445Val) c.12611A>T (p.Asp4204Val) | |
4 | g.125481534C>A | CA358132423 | FAT4 | c.12618C>A (p.Asp4206Glu) c.7389C>A (p.Asp2463Glu) c.7335C>A (p.Asp2445Glu) c.12612C>A (p.Asp4204Glu) | gnomAD v4 |
4 | g.125481534C= | CA1491668516 | FAT4 | c.12618C= (p.Asp4206=) c.7389C= (p.Asp2463=) c.7335C= (p.Asp2445=) c.12612C= (p.Asp4204=) | |
4 | g.125481534C>G | CA358132424 | FAT4 | c.12618C>G (p.Asp4206Glu) c.7389C>G (p.Asp2463Glu) c.7335C>G (p.Asp2445Glu) c.12612C>G (p.Asp4204Glu) | |
4 | g.125481534C>T | CA441204502 | FAT4 | c.12618C>T (p.Asp4206=) c.7389C>T (p.Asp2463=) c.7335C>T (p.Asp2445=) c.12612C>T (p.Asp4204=) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.125481535A= | CA1491668521 | FAT4 | c.12619A= (p.Thr4207=) c.7390A= (p.Thr2464=) c.7336A= (p.Thr2446=) c.12613A= (p.Thr4205=) | |
4 | g.125481535A>C | CA358132425 | FAT4 | c.12619A>C (p.Thr4207Pro) c.7390A>C (p.Thr2464Pro) c.7336A>C (p.Thr2446Pro) c.12613A>C (p.Thr4205Pro) | |
4 | g.125481535A>G | CA358132426 | FAT4 | c.12619A>G (p.Thr4207Ala) c.7390A>G (p.Thr2464Ala) c.7336A>G (p.Thr2446Ala) c.12613A>G (p.Thr4205Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.125481535A>T | CA358132427 | FAT4 | c.12619A>T (p.Thr4207Ser) c.7390A>T (p.Thr2464Ser) c.7336A>T (p.Thr2446Ser) c.12613A>T (p.Thr4205Ser) | |
4 | g.125481536C>A | CA358132429 | FAT4 | c.12620C>A (p.Thr4207Asn) c.7391C>A (p.Thr2464Asn) c.7337C>A (p.Thr2446Asn) c.12614C>A (p.Thr4205Asn) | |
4 | g.125481536C= | CA1491668527 | FAT4 | c.12620C= (p.Thr4207=) c.7391C= (p.Thr2464=) c.7337C= (p.Thr2446=) c.12614C= (p.Thr4205=) | |
4 | g.125481536C>G | CA358132428 | FAT4 | c.12620C>G (p.Thr4207Ser) c.7391C>G (p.Thr2464Ser) c.7337C>G (p.Thr2446Ser) c.12614C>G (p.Thr4205Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.125481536C>T | CA3074162 | FAT4 | c.12620C>T (p.Thr4207Ile) c.7391C>T (p.Thr2464Ile) c.7337C>T (p.Thr2446Ile) c.12614C>T (p.Thr4205Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.125481537T>A | CA441204505 | FAT4 | c.12621T>A (p.Thr4207=) c.7392T>A (p.Thr2464=) c.7338T>A (p.Thr2446=) c.12615T>A (p.Thr4205=) | |
4 | g.125481537T>C | CA441204504 | FAT4 | c.12621T>C (p.Thr4207=) c.7392T>C (p.Thr2464=) c.7338T>C (p.Thr2446=) c.12615T>C (p.Thr4205=) | |
4 | g.125481537T>G | CA441204503 | FAT4 | c.12621T>G (p.Thr4207=) c.7392T>G (p.Thr2464=) c.7338T>G (p.Thr2446=) c.12615T>G (p.Thr4205=) | |
4 | g.125481538G>A | CA358132430 | FAT4 | c.12622G>A (p.Ala4208Thr) c.7393G>A (p.Ala2465Thr) c.7339G>A (p.Ala2447Thr) c.12616G>A (p.Ala4206Thr) | |
4 | g.125481538G>C | CA358132431 | FAT4 | c.12622G>C (p.Ala4208Pro) c.7393G>C (p.Ala2465Pro) c.7339G>C (p.Ala2447Pro) c.12616G>C (p.Ala4206Pro) | |
4 | g.125481538G>T | CA358132432 | FAT4 | c.12622G>T (p.Ala4208Ser) c.7393G>T (p.Ala2465Ser) c.7339G>T (p.Ala2447Ser) c.12616G>T (p.Ala4206Ser) | ClinVar |
4 | g.125481539C>A | CA358132433 | FAT4 | c.12623C>A (p.Ala4208Asp) c.7394C>A (p.Ala2465Asp) c.7340C>A (p.Ala2447Asp) c.12617C>A (p.Ala4206Asp) | |
4 | g.125481539C>G | CA358132434 | FAT4 | c.12623C>G (p.Ala4208Gly) c.7394C>G (p.Ala2465Gly) c.7340C>G (p.Ala2447Gly) c.12617C>G (p.Ala4206Gly) | |
4 | g.125481539C>T | CA358132435 | FAT4 | c.12623C>T (p.Ala4208Val) c.7394C>T (p.Ala2465Val) c.7340C>T (p.Ala2447Val) c.12617C>T (p.Ala4206Val) | gnomAD v4 |
4 | g.125481540C>A | CA441204506 | FAT4 | c.12624C>A (p.Ala4208=) c.7395C>A (p.Ala2465=) c.7341C>A (p.Ala2447=) c.12618C>A (p.Ala4206=) | |
4 | g.125481540C= | CA1491668533 | FAT4 | c.12624C= (p.Ala4208=) c.7395C= (p.Ala2465=) c.7341C= (p.Ala2447=) c.12618C= (p.Ala4206=) | |
4 | g.125481540C>G | CA441204507 | FAT4 | c.12624C>G (p.Ala4208=) c.7395C>G (p.Ala2465=) c.7341C>G (p.Ala2447=) c.12618C>G (p.Ala4206=) | |
4 | g.125481540C>T | CA104870339 | FAT4 | c.12624C>T (p.Ala4208=) c.7395C>T (p.Ala2465=) c.7341C>T (p.Ala2447=) c.12618C>T (p.Ala4206=) | dbSNP |
4 | g.125481541T>A | CA358132437 | FAT4 | c.12625T>A (p.Leu4209Ile) c.7396T>A (p.Leu2466Ile) c.7342T>A (p.Leu2448Ile) c.12619T>A (p.Leu4207Ile) | |
4 | g.125481541T>C | CA441204508 | FAT4 | c.12625T>C (p.Leu4209=) c.7396T>C (p.Leu2466=) c.7342T>C (p.Leu2448=) c.12619T>C (p.Leu4207=) | |
4 | g.125481541T>G | CA358132436 | FAT4 | c.12625T>G (p.Leu4209Val) c.7396T>G (p.Leu2466Val) c.7342T>G (p.Leu2448Val) c.12619T>G (p.Leu4207Val) | |
4 | g.125481542dup | CA2672012542 | FAT4 | c.12626dup (p.Leu4209PhefsTer17) c.7397dup (p.Leu2466PhefsTer17) c.7343dup (p.Leu2448PhefsTer17) c.12620dup (p.Leu4207PhefsTer17) | gnomAD v4 |
4 | g.125481542T>A | CA358132438 | FAT4 | c.12626T>A (p.Leu4209Ter) c.7397T>A (p.Leu2466Ter) c.7343T>A (p.Leu2448Ter) c.12620T>A (p.Leu4207Ter) | |
4 | g.125481542T>C | CA358132440 | FAT4 | c.12626T>C (p.Leu4209Ser) c.7397T>C (p.Leu2466Ser) c.7343T>C (p.Leu2448Ser) c.12620T>C (p.Leu4207Ser) | |
4 | g.125481542T>G | CA358132439 | FAT4 | c.12626T>G (p.Leu4209Ter) c.7397T>G (p.Leu2466Ter) c.7343T>G (p.Leu2448Ter) c.12620T>G (p.Leu4207Ter) | |
4 | g.125481543A= | CA1491668538 | FAT4 | c.12627A= (p.Leu4209=) c.7398A= (p.Leu2466=) c.7344A= (p.Leu2448=) c.12621A= (p.Leu4207=) | |
4 | g.125481543A>C | CA358132441 | FAT4 | c.12627A>C (p.Leu4209Phe) c.7398A>C (p.Leu2466Phe) c.7344A>C (p.Leu2448Phe) c.12621A>C (p.Leu4207Phe) | |
4 | g.125481543A>G | CA441204509 | FAT4 | c.12627A>G (p.Leu4209=) c.7398A>G (p.Leu2466=) c.7344A>G (p.Leu2448=) c.12621A>G (p.Leu4207=) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.125481543A>T | CA358132442 | FAT4 | c.12627A>T (p.Leu4209Phe) c.7398A>T (p.Leu2466Phe) c.7344A>T (p.Leu2448Phe) c.12621A>T (p.Leu4207Phe) | gnomAD v4 |
4 | g.125481544T>A | CA358132443 | FAT4 | c.12628T>A (p.Ser4210Thr) c.7399T>A (p.Ser2467Thr) c.7345T>A (p.Ser2449Thr) c.12622T>A (p.Ser4208Thr) | |
4 | g.125481544T>C | CA358132444 | FAT4 | c.12628T>C (p.Ser4210Pro) c.7399T>C (p.Ser2467Pro) c.7345T>C (p.Ser2449Pro) c.12622T>C (p.Ser4208Pro) | |
4 | g.125481544T>G | CA358132445 | FAT4 | c.12628T>G (p.Ser4210Ala) c.7399T>G (p.Ser2467Ala) c.7345T>G (p.Ser2449Ala) c.12622T>G (p.Ser4208Ala) | |
4 | g.125481545C>A | CA358132446 | FAT4 | c.12629C>A (p.Ser4210Ter) c.7400C>A (p.Ser2467Ter) c.7346C>A (p.Ser2449Ter) c.12623C>A (p.Ser4208Ter) | |
4 | g.125481545C>G | CA358132447 | FAT4 | c.12629C>G (p.Ser4210Ter) c.7400C>G (p.Ser2467Ter) c.7346C>G (p.Ser2449Ter) c.12623C>G (p.Ser4208Ter) | |
4 | g.125481545C>T | CA358132448 | FAT4 | c.12629C>T (p.Ser4210Leu) c.7400C>T (p.Ser2467Leu) c.7346C>T (p.Ser2449Leu) c.12623C>T (p.Ser4208Leu) | gnomAD v4 COSMIC COSMIC |
4 | g.125481546A>C | CA441204510 | FAT4 | c.12630A>C (p.Ser4210=) c.7401A>C (p.Ser2467=) c.7347A>C (p.Ser2449=) c.12624A>C (p.Ser4208=) | |
4 | g.125481546A>G | CA441204511 | FAT4 | c.12630A>G (p.Ser4210=) c.7401A>G (p.Ser2467=) c.7347A>G (p.Ser2449=) c.12624A>G (p.Ser4208=) | |
4 | g.125481546A>T | CA441204512 | FAT4 | c.12630A>T (p.Ser4210=) c.7401A>T (p.Ser2467=) c.7347A>T (p.Ser2449=) c.12624A>T (p.Ser4208=) | |
4 | g.125481547T>A | CA358132449 | FAT4 | c.12631T>A (p.Leu4211Ile) c.7402T>A (p.Leu2468Ile) c.7348T>A (p.Leu2450Ile) c.12625T>A (p.Leu4209Ile) | |
4 | g.125481547T>C | CA441204513 | FAT4 | c.12631T>C (p.Leu4211=) c.7402T>C (p.Leu2468=) c.7348T>C (p.Leu2450=) c.12625T>C (p.Leu4209=) | |
4 | g.125481547T>G | CA358132450 | FAT4 | c.12631T>G (p.Leu4211Val) c.7402T>G (p.Leu2468Val) c.7348T>G (p.Leu2450Val) c.12625T>G (p.Leu4209Val) | |
4 | g.125481548T>A | CA358132451 | FAT4 | c.12632T>A (p.Leu4211Ter) c.7403T>A (p.Leu2468Ter) c.7349T>A (p.Leu2450Ter) c.12626T>A (p.Leu4209Ter) | |
4 | g.125481548T>C | CA358132452 | FAT4 | c.12632T>C (p.Leu4211Ser) c.7403T>C (p.Leu2468Ser) c.7349T>C (p.Leu2450Ser) c.12626T>C (p.Leu4209Ser) | |
4 | g.125481548T>G | CA358132453 | FAT4 | c.12632T>G (p.Leu4211Ter) c.7403T>G (p.Leu2468Ter) c.7349T>G (p.Leu2450Ter) c.12626T>G (p.Leu4209Ter) | |
4 | g.125481549A>C | CA358132454 | FAT4 | c.12633A>C (p.Leu4211Phe) c.7404A>C (p.Leu2468Phe) c.7350A>C (p.Leu2450Phe) c.12627A>C (p.Leu4209Phe) | |
4 | g.125481549A>G | CA441204514 | FAT4 | c.12633A>G (p.Leu4211=) c.7404A>G (p.Leu2468=) c.7350A>G (p.Leu2450=) c.12627A>G (p.Leu4209=) | |
4 | g.125481549A>T | CA358132455 | FAT4 | c.12633A>T (p.Leu4211Phe) c.7404A>T (p.Leu2468Phe) c.7350A>T (p.Leu2450Phe) c.12627A>T (p.Leu4209Phe) | |
4 | g.125481550G>A | CA358132456 | FAT4 | c.12634G>A (p.Glu4212Lys) c.7405G>A (p.Glu2469Lys) c.7351G>A (p.Glu2451Lys) c.12628G>A (p.Glu4210Lys) | |
4 | g.125481550G>C | CA358132457 | FAT4 | c.12634G>C (p.Glu4212Gln) c.7405G>C (p.Glu2469Gln) c.7351G>C (p.Glu2451Gln) c.12628G>C (p.Glu4210Gln) | |
4 | g.125481550G>T | CA358132458 | FAT4 | c.12634G>T (p.Glu4212Ter) c.7405G>T (p.Glu2469Ter) c.7351G>T (p.Glu2451Ter) c.12628G>T (p.Glu4210Ter) | |
4 | g.125481551A= | CA1491668544 | FAT4 | c.12635A= (p.Glu4212=) c.7406A= (p.Glu2469=) c.7352A= (p.Glu2451=) c.12629A= (p.Glu4210=) | |
4 | g.125481551A>C | CA358132459 | FAT4 | c.12635A>C (p.Glu4212Ala) c.7406A>C (p.Glu2469Ala) c.7352A>C (p.Glu2451Ala) c.12629A>C (p.Glu4210Ala) | |
4 | g.125481551A>G | CA104870340 | FAT4 | c.12635A>G (p.Glu4212Gly) c.7406A>G (p.Glu2469Gly) c.7352A>G (p.Glu2451Gly) c.12629A>G (p.Glu4210Gly) | dbSNP |
4 | g.125481551A>T | CA358132460 | FAT4 | c.12635A>T (p.Glu4212Val) c.7406A>T (p.Glu2469Val) c.7352A>T (p.Glu2451Val) c.12629A>T (p.Glu4210Val) | |
4 | g.125481552A>C | CA358132461 | FAT4 | c.12636A>C (p.Glu4212Asp) c.7407A>C (p.Glu2469Asp) c.7353A>C (p.Glu2451Asp) c.12630A>C (p.Glu4210Asp) | |
4 | g.125481552A>G | CA441204515 | FAT4 | c.12636A>G (p.Glu4212=) c.7407A>G (p.Glu2469=) c.7353A>G (p.Glu2451=) c.12630A>G (p.Glu4210=) | |
4 | g.125481552A>T | CA358132462 | FAT4 | c.12636A>T (p.Glu4212Asp) c.7407A>T (p.Glu2469Asp) c.7353A>T (p.Glu2451Asp) c.12630A>T (p.Glu4210Asp) | |
4 | g.125481553G>A | CA358132463 | FAT4 | c.12637G>A (p.Gly4213Ser) c.7408G>A (p.Gly2470Ser) c.7354G>A (p.Gly2452Ser) c.12631G>A (p.Gly4211Ser) | gnomAD v4 |
4 | g.125481553G>C | CA358132464 | FAT4 | c.12637G>C (p.Gly4213Arg) c.7408G>C (p.Gly2470Arg) c.7354G>C (p.Gly2452Arg) c.12631G>C (p.Gly4211Arg) | dbSNP |
4 | g.125481553G= | CA1491668550 | FAT4 | c.12637G= (p.Gly4213=) c.7408G= (p.Gly2470=) c.7354G= (p.Gly2452=) c.12631G= (p.Gly4211=) | |
4 | g.125481553G>T | CA358132465 | FAT4 | c.12637G>T (p.Gly4213Cys) c.7408G>T (p.Gly2470Cys) c.7354G>T (p.Gly2452Cys) c.12631G>T (p.Gly4211Cys) | |
4 | g.125481554G>A | CA358132468 | FAT4 | c.12638G>A (p.Gly4213Asp) c.7409G>A (p.Gly2470Asp) c.7355G>A (p.Gly2452Asp) c.12632G>A (p.Gly4211Asp) | |
4 | g.125481554G>C | CA358132467 | FAT4 | c.12638G>C (p.Gly4213Ala) c.7409G>C (p.Gly2470Ala) c.7355G>C (p.Gly2452Ala) c.12632G>C (p.Gly4211Ala) | |
4 | g.125481554G>T | CA358132466 | FAT4 | c.12638G>T (p.Gly4213Val) c.7409G>T (p.Gly2470Val) c.7355G>T (p.Gly2452Val) c.12632G>T (p.Gly4211Val) | |
4 | g.125481555C>A | CA441204516 | FAT4 | c.12639C>A (p.Gly4213=) c.7410C>A (p.Gly2470=) c.7356C>A (p.Gly2452=) c.12633C>A (p.Gly4211=) | |
4 | g.125481555C= | CA1491668556 | FAT4 | c.12639C= (p.Gly4213=) c.7410C= (p.Gly2470=) c.7356C= (p.Gly2452=) c.12633C= (p.Gly4211=) | |
4 | g.125481555C>G | CA441204517 | FAT4 | c.12639C>G (p.Gly4213=) c.7410C>G (p.Gly2470=) c.7356C>G (p.Gly2452=) c.12633C>G (p.Gly4211=) | |
4 | g.125481555C>T | CA441204518 | FAT4 | c.12639C>T (p.Gly4213=) c.7410C>T (p.Gly2470=) c.7356C>T (p.Gly2452=) c.12633C>T (p.Gly4211=) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.125481555_125481556delinsCA | CA1491668557 | FAT4 | c.12639_12640delinsCA (p.Gly4213=) c.7410_7411delinsCA (p.Gly2470=) c.7356_7357delinsCA (p.Gly2452=) c.12633_12634delinsCA (p.Gly4211=) | |
4 | g.125481556A>C | CA358132471 | FAT4 | c.12640A>C (p.Lys4214Gln) c.7411A>C (p.Lys2471Gln) c.7357A>C (p.Lys2453Gln) c.12634A>C (p.Lys4212Gln) | gnomAD v4 |
4 | g.125481556A>G | CA358132469 | FAT4 | c.12640A>G (p.Lys4214Glu) c.7411A>G (p.Lys2471Glu) c.7357A>G (p.Lys2453Glu) c.12634A>G (p.Lys4212Glu) | |
4 | g.125481556A>T | CA358132470 | FAT4 | c.12640A>T (p.Lys4214Ter) c.7411A>T (p.Lys2471Ter) c.7357A>T (p.Lys2453Ter) c.12634A>T (p.Lys4212Ter) | |
4 | g.125481558del | CA1491668562 | FAT4 | c.12642del (p.Arg4216AlafsTer6) c.7413del (p.Arg2473AlafsTer6) c.7359del (p.Arg2455AlafsTer6) c.12636del (p.Arg4214AlafsTer6) | dbSNP |
4 | g.125481557A= | CA1491668569 | FAT4 | c.12641A= (p.Lys4214=) c.7412A= (p.Lys2471=) c.7358A= (p.Lys2453=) c.12635A= (p.Lys4212=) | |
4 | g.125481557A>C | CA358132472 | FAT4 | c.12641A>C (p.Lys4214Thr) c.7412A>C (p.Lys2471Thr) c.7358A>C (p.Lys2453Thr) c.12635A>C (p.Lys4212Thr) | dbSNP |
4 | g.125481557A>G | CA358132473 | FAT4 | c.12641A>G (p.Lys4214Arg) c.7412A>G (p.Lys2471Arg) c.7358A>G (p.Lys2453Arg) c.12635A>G (p.Lys4212Arg) | gnomAD v4 |
4 | g.125481557A>T | CA358132474 | FAT4 | c.12641A>T (p.Lys4214Ile) c.7412A>T (p.Lys2471Ile) c.7358A>T (p.Lys2453Ile) c.12635A>T (p.Lys4212Ile) | |
4 | g.125481558A>C | CA358132475 | FAT4 | c.12642A>C (p.Lys4214Asn) c.7413A>C (p.Lys2471Asn) c.7359A>C (p.Lys2453Asn) c.12636A>C (p.Lys4212Asn) | |
4 | g.125481558A>G | CA441204519 | FAT4 | c.12642A>G (p.Lys4214=) c.7413A>G (p.Lys2471=) c.7359A>G (p.Lys2453=) c.12636A>G (p.Lys4212=) | |
4 | g.125481558A>T | CA358132476 | FAT4 | c.12642A>T (p.Lys4214Asn) c.7413A>T (p.Lys2471Asn) c.7359A>T (p.Lys2453Asn) c.12636A>T (p.Lys4212Asn) | |
4 | g.125481559G>A | CA358132477 | FAT4 | c.12643G>A (p.Gly4215Arg) c.7414G>A (p.Gly2472Arg) c.7360G>A (p.Gly2454Arg) c.12637G>A (p.Gly4213Arg) | |
4 | g.125481559G>C | CA358132478 | FAT4 | c.12643G>C (p.Gly4215Arg) c.7414G>C (p.Gly2472Arg) c.7360G>C (p.Gly2454Arg) c.12637G>C (p.Gly4213Arg) | |
4 | g.125481559G>T | CA358132479 | FAT4 | c.12643G>T (p.Gly4215Trp) c.7414G>T (p.Gly2472Trp) c.7360G>T (p.Gly2454Trp) c.12637G>T (p.Gly4213Trp) | |
4 | g.125481560G>A | CA358132480 | FAT4 | c.12644G>A (p.Gly4215Glu) c.7415G>A (p.Gly2472Glu) c.7361G>A (p.Gly2454Glu) c.12638G>A (p.Gly4213Glu) | |
4 | g.125481560G>C | CA358132481 | FAT4 | c.12644G>C (p.Gly4215Ala) c.7415G>C (p.Gly2472Ala) c.7361G>C (p.Gly2454Ala) c.12638G>C (p.Gly4213Ala) | ClinVar dbSNP |
4 | g.125481560G>T | CA358132482 | FAT4 | c.12644G>T (p.Gly4215Val) c.7415G>T (p.Gly2472Val) c.7361G>T (p.Gly2454Val) c.12638G>T (p.Gly4213Val) | gnomAD v4 |
4 | g.125481561G>A | CA441204520 | FAT4 | c.12645G>A (p.Gly4215=) c.7416G>A (p.Gly2472=) c.7362G>A (p.Gly2454=) c.12639G>A (p.Gly4213=) | gnomAD v4 |
4 | g.125481561G>C | CA441204521 | FAT4 | c.12645G>C (p.Gly4215=) c.7416G>C (p.Gly2472=) c.7362G>C (p.Gly2454=) c.12639G>C (p.Gly4213=) | |
4 | g.125481561G>T | CA441204522 | FAT4 | c.12645G>T (p.Gly4215=) c.7416G>T (p.Gly2472=) c.7362G>T (p.Gly2454=) c.12639G>T (p.Gly4213=) | |
4 | g.125481562C>A | CA358132484 | FAT4 | c.12646C>A (p.Arg4216Ser) c.7417C>A (p.Arg2473Ser) c.7363C>A (p.Arg2455Ser) c.12640C>A (p.Arg4214Ser) | |
4 | g.125481562C= | CA1491668579 | FAT4 | c.12646C= (p.Arg4216=) c.7417C= (p.Arg2473=) c.7363C= (p.Arg2455=) c.12640C= (p.Arg4214=) | |
4 | g.125481562C>G | CA358132483 | FAT4 | c.12646C>G (p.Arg4216Gly) c.7417C>G (p.Arg2473Gly) c.7363C>G (p.Arg2455Gly) c.12640C>G (p.Arg4214Gly) | |
4 | g.125481562C>T | CA3074163 | FAT4 | c.12646C>T (p.Arg4216Cys) c.7417C>T (p.Arg2473Cys) c.7363C>T (p.Arg2455Cys) c.12640C>T (p.Arg4214Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.125481563G>A | CA3074164 | FAT4 | c.12647G>A (p.Arg4216His) c.7418G>A (p.Arg2473His) c.7364G>A (p.Arg2455His) c.12641G>A (p.Arg4214His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
4 | g.125481563G>C | CA358132485 | FAT4 | c.12647G>C (p.Arg4216Pro) c.7418G>C (p.Arg2473Pro) c.7364G>C (p.Arg2455Pro) c.12641G>C (p.Arg4214Pro) | |
4 | g.125481563G= | CA1491668594 | FAT4 | c.12647G= (p.Arg4216=) c.7418G= (p.Arg2473=) c.7364G= (p.Arg2455=) c.12641G= (p.Arg4214=) | |
4 | g.125481563G>T | CA358132486 | FAT4 | c.12647G>T (p.Arg4216Leu) c.7418G>T (p.Arg2473Leu) c.7364G>T (p.Arg2455Leu) c.12641G>T (p.Arg4214Leu) | |
4 | g.125481564C>A | CA441204523 | FAT4 | c.12648C>A (p.Arg4216=) c.7419C>A (p.Arg2473=) c.7365C>A (p.Arg2455=) c.12642C>A (p.Arg4214=) | |
4 | g.125481564C>G | CA441204524 | FAT4 | c.12648C>G (p.Arg4216=) c.7419C>G (p.Arg2473=) c.7365C>G (p.Arg2455=) c.12642C>G (p.Arg4214=) | |
4 | g.125481564C>T | CA441204525 | FAT4 | c.12648C>T (p.Arg4216=) c.7419C>T (p.Arg2473=) c.7365C>T (p.Arg2455=) c.12642C>T (p.Arg4214=) | |
4 | g.125481565T>A | CA358132487 | FAT4 | c.12649T>A (p.Leu4217Met) c.7420T>A (p.Leu2474Met) c.7366T>A (p.Leu2456Met) c.12643T>A (p.Leu4215Met) | |
4 | g.125481565T>C | CA441204526 | FAT4 | c.12649T>C (p.Leu4217=) c.7420T>C (p.Leu2474=) c.7366T>C (p.Leu2456=) c.12643T>C (p.Leu4215=) | gnomAD v4 |
4 | g.125481565T>G | CA358132488 | FAT4 | c.12649T>G (p.Leu4217Val) c.7420T>G (p.Leu2474Val) c.7366T>G (p.Leu2456Val) c.12643T>G (p.Leu4215Val) | dbSNP gnomAD v4 |
4 | g.125481566T>A | CA358132489 | FAT4 | c.12650T>A (p.Leu4217Ter) c.7421T>A (p.Leu2474Ter) c.7367T>A (p.Leu2456Ter) c.12644T>A (p.Leu4215Ter) | |
4 | g.125481566T>C | CA358132490 | FAT4 | c.12650T>C (p.Leu4217Ser) c.7421T>C (p.Leu2474Ser) c.7367T>C (p.Leu2456Ser) c.12644T>C (p.Leu4215Ser) | |
4 | g.125481566T>G | CA358132491 | FAT4 | c.12650T>G (p.Leu4217Trp) c.7421T>G (p.Leu2474Trp) c.7367T>G (p.Leu2456Trp) c.12644T>G (p.Leu4215Trp) | |
4 | g.125481567G>A | CA441204527 | FAT4 | c.12651G>A (p.Leu4217=) c.7422G>A (p.Leu2474=) c.7368G>A (p.Leu2456=) c.12645G>A (p.Leu4215=) | |
4 | g.125481567G>C | CA358132492 | FAT4 | c.12651G>C (p.Leu4217Phe) c.7422G>C (p.Leu2474Phe) c.7368G>C (p.Leu2456Phe) c.12645G>C (p.Leu4215Phe) | |
4 | g.125481567G>T | CA358132493 | FAT4 | c.12651G>T (p.Leu4217Phe) c.7422G>T (p.Leu2474Phe) c.7368G>T (p.Leu2456Phe) c.12645G>T (p.Leu4215Phe) | COSMIC COSMIC COSMIC |
4 | g.125481568G>A | CA358132494 | FAT4 | c.12652G>A (p.Asp4218Asn) c.7423G>A (p.Asp2475Asn) c.7369G>A (p.Asp2457Asn) c.12646G>A (p.Asp4216Asn) | |
4 | g.125481568G>C | CA358132495 | FAT4 | c.12652G>C (p.Asp4218His) c.7423G>C (p.Asp2475His) c.7369G>C (p.Asp2457His) c.12646G>C (p.Asp4216His) | |
4 | g.125481568G>T | CA358132496 | FAT4 | c.12652G>T (p.Asp4218Tyr) c.7423G>T (p.Asp2475Tyr) c.7369G>T (p.Asp2457Tyr) c.12646G>T (p.Asp4216Tyr) | |
4 | g.125481569A>C | CA358132498 | FAT4 | c.12653A>C (p.Asp4218Ala) c.7424A>C (p.Asp2475Ala) c.7370A>C (p.Asp2457Ala) c.12647A>C (p.Asp4216Ala) | |
4 | g.125481569A>G | CA358132499 | FAT4 | c.12653A>G (p.Asp4218Gly) c.7424A>G (p.Asp2475Gly) c.7370A>G (p.Asp2457Gly) c.12647A>G (p.Asp4216Gly) | |
4 | g.125481569A>T | CA358132497 | FAT4 | c.12653A>T (p.Asp4218Val) c.7424A>T (p.Asp2475Val) c.7370A>T (p.Asp2457Val) c.12647A>T (p.Asp4216Val) | |
4 | g.125481570C>A | CA358132500 | FAT4 | c.12654C>A (p.Asp4218Glu) c.7425C>A (p.Asp2475Glu) c.7371C>A (p.Asp2457Glu) c.12648C>A (p.Asp4216Glu) | |
4 | g.125481570C>G | CA358132501 | FAT4 | c.12654C>G (p.Asp4218Glu) c.7425C>G (p.Asp2475Glu) c.7371C>G (p.Asp2457Glu) c.12648C>G (p.Asp4216Glu) | |
4 | g.125481570C>T | CA441204528 | FAT4 | c.12654C>T (p.Asp4218=) c.7425C>T (p.Asp2475=) c.7371C>T (p.Asp2457=) c.12648C>T (p.Asp4216=) | |
4 | g.125481571T>A | CA358132502 | FAT4 | c.12655T>A (p.Tyr4219Asn) c.7426T>A (p.Tyr2476Asn) c.7372T>A (p.Tyr2458Asn) c.12649T>A (p.Tyr4217Asn) | |
4 | g.125481571T>C | CA358132503 | FAT4 | c.12655T>C (p.Tyr4219His) c.7426T>C (p.Tyr2476His) c.7372T>C (p.Tyr2458His) c.12649T>C (p.Tyr4217His) | |
4 | g.125481571T>G | CA358132504 | FAT4 | c.12655T>G (p.Tyr4219Asp) c.7426T>G (p.Tyr2476Asp) c.7372T>G (p.Tyr2458Asp) c.12649T>G (p.Tyr4217Asp) | |
4 | g.125481572A= | CA1491668599 | FAT4 | c.12656A= (p.Tyr4219=) c.7427A= (p.Tyr2476=) c.7373A= (p.Tyr2458=) c.12650A= (p.Tyr4217=) | |
4 | g.125481572A>C | CA358132505 | FAT4 | c.12656A>C (p.Tyr4219Ser) c.7427A>C (p.Tyr2476Ser) c.7373A>C (p.Tyr2458Ser) c.12650A>C (p.Tyr4217Ser) | |
4 | g.125481572A>G | CA358132506 | FAT4 | c.12656A>G (p.Tyr4219Cys) c.7427A>G (p.Tyr2476Cys) c.7373A>G (p.Tyr2458Cys) c.12650A>G (p.Tyr4217Cys) | dbSNP |
4 | g.125481572A>T | CA358132507 | FAT4 | c.12656A>T (p.Tyr4219Phe) c.7427A>T (p.Tyr2476Phe) c.7373A>T (p.Tyr2458Phe) c.12650A>T (p.Tyr4217Phe) | |
4 | g.125481573C>A | CA358132508 | FAT4 | c.12657C>A (p.Tyr4219Ter) c.7428C>A (p.Tyr2476Ter) c.7374C>A (p.Tyr2458Ter) c.12651C>A (p.Tyr4217Ter) | |
4 | g.125481573C= | CA1491668603 | FAT4 | c.12657C= (p.Tyr4219=) c.7428C= (p.Tyr2476=) c.7374C= (p.Tyr2458=) c.12651C= (p.Tyr4217=) | |
4 | g.125481573C>G | CA358132509 | FAT4 | c.12657C>G (p.Tyr4219Ter) c.7428C>G (p.Tyr2476Ter) c.7374C>G (p.Tyr2458Ter) c.12651C>G (p.Tyr4217Ter) | |
4 | g.125481573C>T | CA441204529 | FAT4 | c.12657C>T (p.Tyr4219=) c.7428C>T (p.Tyr2476=) c.7374C>T (p.Tyr2458=) c.12651C>T (p.Tyr4217=) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.125481574C>A | CA358132510 | FAT4 | c.12658C>A (p.His4220Asn) c.7429C>A (p.His2477Asn) c.7375C>A (p.His2459Asn) c.12652C>A (p.His4218Asn) | |
4 | g.125481574C>G | CA358132511 | FAT4 | c.12658C>G (p.His4220Asp) c.7429C>G (p.His2477Asp) c.7375C>G (p.His2459Asp) c.12652C>G (p.His4218Asp) | |
4 | g.125481574C>T | CA358132512 | FAT4 | c.12658C>T (p.His4220Tyr) c.7429C>T (p.His2477Tyr) c.7375C>T (p.His2459Tyr) c.12652C>T (p.His4218Tyr) | |
4 | g.125481575A>C | CA358132515 | FAT4 | c.12659A>C (p.His4220Pro) c.7430A>C (p.His2477Pro) c.7376A>C (p.His2459Pro) c.12653A>C (p.His4218Pro) | |
4 | g.125481575A>G | CA358132514 | FAT4 | c.12659A>G (p.His4220Arg) c.7430A>G (p.His2477Arg) c.7376A>G (p.His2459Arg) c.12653A>G (p.His4218Arg) | |
4 | g.125481575A>T | CA358132513 | FAT4 | c.12659A>T (p.His4220Leu) c.7430A>T (p.His2477Leu) c.7376A>T (p.His2459Leu) c.12653A>T (p.His4218Leu) | |
4 | g.125481576C>A | CA358132516 | FAT4 | c.12660C>A (p.His4220Gln) c.7431C>A (p.His2477Gln) c.7377C>A (p.His2459Gln) c.12654C>A (p.His4218Gln) | |
4 | g.125481576C>G | CA358132517 | FAT4 | c.12660C>G (p.His4220Gln) c.7431C>G (p.His2477Gln) c.7377C>G (p.His2459Gln) c.12654C>G (p.His4218Gln) | |
4 | g.125481576C>T | CA441204530 | FAT4 | c.12660C>T (p.His4220=) c.7431C>T (p.His2477=) c.7377C>T (p.His2459=) c.12654C>T (p.His4218=) | |
4 | g.125481577A= | CA1491668608 | FAT4 | c.12661A= (p.Met4221=) c.7432A= (p.Met2478=) c.7378A= (p.Met2460=) c.12655A= (p.Met4219=) | |
4 | g.125481577A>C | CA358132518 | FAT4 | c.12661A>C (p.Met4221Leu) c.7432A>C (p.Met2478Leu) c.7378A>C (p.Met2460Leu) c.12655A>C (p.Met4219Leu) | gnomAD v4 |
4 | g.125481577A>G | CA358132519 | FAT4 | c.12661A>G (p.Met4221Val) c.7432A>G (p.Met2478Val) c.7378A>G (p.Met2460Val) c.12655A>G (p.Met4219Val) | dbSNP |
4 | g.125481577A>T | CA358132520 | FAT4 | c.12661A>T (p.Met4221Leu) c.7432A>T (p.Met2478Leu) c.7378A>T (p.Met2460Leu) c.12655A>T (p.Met4219Leu) | gnomAD v4 |
4 | g.125481577_125481578del | CA2672012550 | FAT4 | c.12661_12662del (p.Met4221GlufsTer4) c.7432_7433del (p.Met2478GlufsTer4) c.7378_7379del (p.Met2460GlufsTer4) c.12655_12656del (p.Met4219GlufsTer4) | gnomAD v4 |
4 | g.125481578T>A | CA358132521 | FAT4 | c.12662T>A (p.Met4221Lys) c.7433T>A (p.Met2478Lys) c.7379T>A (p.Met2460Lys) c.12656T>A (p.Met4219Lys) | |
4 | g.125481578T>C | CA358132522 | FAT4 | c.12662T>C (p.Met4221Thr) c.7433T>C (p.Met2478Thr) c.7379T>C (p.Met2460Thr) c.12656T>C (p.Met4219Thr) | dbSNP |
4 | g.125481578T>G | CA358132523 | FAT4 | c.12662T>G (p.Met4221Arg) c.7433T>G (p.Met2478Arg) c.7379T>G (p.Met2460Arg) c.12656T>G (p.Met4219Arg) | gnomAD v4 |
4 | g.125481579G>A | CA3074165 | FAT4 | c.12663G>A (p.Met4221Ile) c.7434G>A (p.Met2478Ile) c.7380G>A (p.Met2460Ile) c.12657G>A (p.Met4219Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.125481579G>C | CA358132524 | FAT4 | c.12663G>C (p.Met4221Ile) c.7434G>C (p.Met2478Ile) c.7380G>C (p.Met2460Ile) c.12657G>C (p.Met4219Ile) | dbSNP |
4 | g.125481579G= | CA1491668616 | FAT4 | c.12663G= (p.Met4221=) c.7434G= (p.Met2478=) c.7380G= (p.Met2460=) c.12657G= (p.Met4219=) | |
4 | g.125481579G>T | CA358132525 | FAT4 | c.12663G>T (p.Met4221Ile) c.7434G>T (p.Met2478Ile) c.7380G>T (p.Met2460Ile) c.12657G>T (p.Met4219Ile) | dbSNP |
4 | g.125481580A= | CA1491668619 | FAT4 | c.12664A= (p.Ser4222=) c.7435A= (p.Ser2479=) c.7381A= (p.Ser2461=) c.12658A= (p.Ser4220=) | |
4 | g.125481580A>C | CA358132526 | FAT4 | c.12664A>C (p.Ser4222Arg) c.7435A>C (p.Ser2479Arg) c.7381A>C (p.Ser2461Arg) c.12658A>C (p.Ser4220Arg) | |
4 | g.125481580A>G | CA358132527 | FAT4 | c.12664A>G (p.Ser4222Gly) c.7435A>G (p.Ser2479Gly) c.7381A>G (p.Ser2461Gly) c.12658A>G (p.Ser4220Gly) | |
4 | g.125481580A>T | CA358132528 | FAT4 | c.12664A>T (p.Ser4222Cys) c.7435A>T (p.Ser2479Cys) c.7381A>T (p.Ser2461Cys) c.12658A>T (p.Ser4220Cys) | dbSNP |
4 | g.125481581G>A | CA358132530 | FAT4 | c.12665G>A (p.Ser4222Asn) c.7436G>A (p.Ser2479Asn) c.7382G>A (p.Ser2461Asn) c.12659G>A (p.Ser4220Asn) | |
4 | g.125481581G>C | CA358132531 | FAT4 | c.12665G>C (p.Ser4222Thr) c.7436G>C (p.Ser2479Thr) c.7382G>C (p.Ser2461Thr) c.12659G>C (p.Ser4220Thr) | |
4 | g.125481581G>T | CA358132529 | FAT4 | c.12665G>T (p.Ser4222Ile) c.7436G>T (p.Ser2479Ile) c.7382G>T (p.Ser2461Ile) c.12659G>T (p.Ser4220Ile) | |
4 | g.125481582T>A | CA358132532 | FAT4 | c.12666T>A (p.Ser4222Arg) c.7437T>A (p.Ser2479Arg) c.7383T>A (p.Ser2461Arg) c.12660T>A (p.Ser4220Arg) | |
4 | g.125481582T>C | CA441204531 | FAT4 | c.12666T>C (p.Ser4222=) c.7437T>C (p.Ser2479=) c.7383T>C (p.Ser2461=) c.12660T>C (p.Ser4220=) | |
4 | g.125481582T>G | CA358132533 | FAT4 | c.12666T>G (p.Ser4222Arg) c.7437T>G (p.Ser2479Arg) c.7383T>G (p.Ser2461Arg) c.12660T>G (p.Ser4220Arg) | |
4 | g.125481583C>A | CA358132534 | FAT4 | c.12667C>A (p.Gln4223Lys) c.7438C>A (p.Gln2480Lys) c.7384C>A (p.Gln2462Lys) c.12661C>A (p.Gln4221Lys) | gnomAD v4 COSMIC COSMIC |
4 | g.125481583C>G | CA358132535 | FAT4 | c.12667C>G (p.Gln4223Glu) c.7438C>G (p.Gln2480Glu) c.7384C>G (p.Gln2462Glu) c.12661C>G (p.Gln4221Glu) | |
4 | g.125481583C>T | CA358132536 | FAT4 | c.12667C>T (p.Gln4223Ter) c.7438C>T (p.Gln2480Ter) c.7384C>T (p.Gln2462Ter) c.12661C>T (p.Gln4221Ter) | COSMIC COSMIC |
4 | g.125481584A>C | CA358132537 | FAT4 | c.12668A>C (p.Gln4223Pro) c.7439A>C (p.Gln2480Pro) c.7385A>C (p.Gln2462Pro) c.12662A>C (p.Gln4221Pro) | |
4 | g.125481584A>G | CA358132538 | FAT4 | c.12668A>G (p.Gln4223Arg) c.7439A>G (p.Gln2480Arg) c.7385A>G (p.Gln2462Arg) c.12662A>G (p.Gln4221Arg) | |
4 | g.125481584A>T | CA358132539 | FAT4 | c.12668A>T (p.Gln4223Leu) c.7439A>T (p.Gln2480Leu) c.7385A>T (p.Gln2462Leu) c.12662A>T (p.Gln4221Leu) | |
4 | g.125481585G>A | CA441204532 | FAT4 | c.12669G>A (p.Gln4223=) c.7440G>A (p.Gln2480=) c.7386G>A (p.Gln2462=) c.12663G>A (p.Gln4221=) | |
4 | g.125481585G>C | CA358132540 | FAT4 | c.12669G>C (p.Gln4223His) c.7440G>C (p.Gln2480His) c.7386G>C (p.Gln2462His) c.12663G>C (p.Gln4221His) | |
4 | g.125481585G>T | CA358132541 | FAT4 | c.12669G>T (p.Gln4223His) c.7440G>T (p.Gln2480His) c.7386G>T (p.Gln2462His) c.12663G>T (p.Gln4221His) | |
4 | g.125481586A>C | CA358132542 | FAT4 | c.12670A>C (p.Asn4224His) c.7441A>C (p.Asn2481His) c.7387A>C (p.Asn2463His) c.12664A>C (p.Asn4222His) | |
4 | g.125481586A>G | CA358132543 | FAT4 | c.12670A>G (p.Asn4224Asp) c.7441A>G (p.Asn2481Asp) c.7387A>G (p.Asn2463Asp) c.12664A>G (p.Asn4222Asp) | |
4 | g.125481586A>T | CA358132544 | FAT4 | c.12670A>T (p.Asn4224Tyr) c.7441A>T (p.Asn2481Tyr) c.7387A>T (p.Asn2463Tyr) c.12664A>T (p.Asn4222Tyr) | |
4 | g.125481587A= | CA1491668622 | FAT4 | c.12671A= (p.Asn4224=) c.7442A= (p.Asn2481=) c.7388A= (p.Asn2463=) c.12665A= (p.Asn4222=) | |
4 | g.125481587A>C | CA358132545 | FAT4 | c.12671A>C (p.Asn4224Thr) c.7442A>C (p.Asn2481Thr) c.7388A>C (p.Asn2463Thr) c.12665A>C (p.Asn4222Thr) | |
4 | g.125481587A>G | CA104870362 | FAT4 | c.12671A>G (p.Asn4224Ser) c.7442A>G (p.Asn2481Ser) c.7388A>G (p.Asn2463Ser) c.12665A>G (p.Asn4222Ser) | dbSNP gnomAD v4 |
4 | g.125481587A>T | CA358132546 | FAT4 | c.12671A>T (p.Asn4224Ile) c.7442A>T (p.Asn2481Ile) c.7388A>T (p.Asn2463Ile) c.12665A>T (p.Asn4222Ile) | |
4 | g.125481588T>A | CA358132547 | FAT4 | c.12672T>A (p.Asn4224Lys) c.7443T>A (p.Asn2481Lys) c.7389T>A (p.Asn2463Lys) c.12666T>A (p.Asn4222Lys) | gnomAD v4 |
4 | g.125481588T>C | CA441204533 | FAT4 | c.12672T>C (p.Asn4224=) c.7443T>C (p.Asn2481=) c.7389T>C (p.Asn2463=) c.12666T>C (p.Asn4222=) | |
4 | g.125481588T>G | CA358132548 | FAT4 | c.12672T>G (p.Asn4224Lys) c.7443T>G (p.Asn2481Lys) c.7389T>G (p.Asn2463Lys) c.12666T>G (p.Asn4222Lys) | |
4 | g.125481589G>A | CA358132549 | FAT4 | c.12673G>A (p.Glu4225Lys) c.7444G>A (p.Glu2482Lys) c.7390G>A (p.Glu2464Lys) c.12667G>A (p.Glu4223Lys) | |
4 | g.125481589G>C | CA358132550 | FAT4 | c.12673G>C (p.Glu4225Gln) c.7444G>C (p.Glu2482Gln) c.7390G>C (p.Glu2464Gln) c.12667G>C (p.Glu4223Gln) | gnomAD v4 |
4 | g.125481589G>T | CA358132551 | FAT4 | c.12673G>T (p.Glu4225Ter) c.7444G>T (p.Glu2482Ter) c.7390G>T (p.Glu2464Ter) c.12667G>T (p.Glu4223Ter) | |
4 | g.125481590A>C | CA358132552 | FAT4 | c.12674A>C (p.Glu4225Ala) c.7445A>C (p.Glu2482Ala) c.7391A>C (p.Glu2464Ala) c.12668A>C (p.Glu4223Ala) | |
4 | g.125481590A>G | CA358132553 | FAT4 | c.12674A>G (p.Glu4225Gly) c.7445A>G (p.Glu2482Gly) c.7391A>G (p.Glu2464Gly) c.12668A>G (p.Glu4223Gly) | |
4 | g.125481590A>T | CA358132554 | FAT4 | c.12674A>T (p.Glu4225Val) c.7445A>T (p.Glu2482Val) c.7391A>T (p.Glu2464Val) c.12668A>T (p.Glu4223Val) | |
4 | g.125481591G>A | CA441204534 | FAT4 | c.12675G>A (p.Glu4225=) c.7446G>A (p.Glu2482=) c.7392G>A (p.Glu2464=) c.12669G>A (p.Glu4223=) | gnomAD v4 |
4 | g.125481591G>C | CA358132555 | FAT4 | c.12675G>C (p.Glu4225Asp) c.7446G>C (p.Glu2482Asp) c.7392G>C (p.Glu2464Asp) c.12669G>C (p.Glu4223Asp) | gnomAD v4 |
4 | g.125481591G>T | CA358132556 | FAT4 | c.12675G>T (p.Glu4225Asp) c.7446G>T (p.Glu2482Asp) c.7392G>T (p.Glu2464Asp) c.12669G>T (p.Glu4223Asp) | |
4 | g.125481592A= | CA1491668628 | FAT4 | c.12676A= (p.Lys4226=) c.7447A= (p.Lys2483=) c.7393A= (p.Lys2465=) c.12670A= (p.Lys4224=) | |
4 | g.125481592A>C | CA3074166 | FAT4 | c.12676A>C (p.Lys4226Gln) c.7447A>C (p.Lys2483Gln) c.7393A>C (p.Lys2465Gln) c.12670A>C (p.Lys4224Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.125481592A>G | CA358132558 | FAT4 | c.12676A>G (p.Lys4226Glu) c.7447A>G (p.Lys2483Glu) c.7393A>G (p.Lys2465Glu) c.12670A>G (p.Lys4224Glu) | |
4 | g.125481592A>T | CA358132557 | FAT4 | c.12676A>T (p.Lys4226Ter) c.7447A>T (p.Lys2483Ter) c.7393A>T (p.Lys2465Ter) c.12670A>T (p.Lys4224Ter) | |
4 | g.125481593A>C | CA358132559 | FAT4 | c.12677A>C (p.Lys4226Thr) c.7448A>C (p.Lys2483Thr) c.7394A>C (p.Lys2465Thr) c.12671A>C (p.Lys4224Thr) | |
4 | g.125481593A>G | CA358132561 | FAT4 | c.12677A>G (p.Lys4226Arg) c.7448A>G (p.Lys2483Arg) c.7394A>G (p.Lys2465Arg) c.12671A>G (p.Lys4224Arg) | |
4 | g.125481593A>T | CA358132560 | FAT4 | c.12677A>T (p.Lys4226Met) c.7448A>T (p.Lys2483Met) c.7394A>T (p.Lys2465Met) c.12671A>T (p.Lys4224Met) | |
4 | g.125481594G>A | CA441204537 | FAT4 | c.12678G>A (p.Lys4226=) c.7449G>A (p.Lys2483=) c.7395G>A (p.Lys2465=) c.12672G>A (p.Lys4224=) | ClinVar dbSNP gnomAD v4 |
4 | g.125481594G>C | CA358132562 | FAT4 | c.12678G>C (p.Lys4226Asn) c.7449G>C (p.Lys2483Asn) c.7395G>C (p.Lys2465Asn) c.12672G>C (p.Lys4224Asn) | |
4 | g.125481594G>T | CA358132563 | FAT4 | c.12678G>T (p.Lys4226Asn) c.7449G>T (p.Lys2483Asn) c.7395G>T (p.Lys2465Asn) c.12672G>T (p.Lys4224Asn) | |
4 | g.125481595C>A | CA441204538 | FAT4 | c.12679C>A (p.Arg4227=) c.7450C>A (p.Arg2484=) c.7396C>A (p.Arg2466=) c.12673C>A (p.Arg4225=) | |
4 | g.125481595C= | CA1491668634 | FAT4 | c.12679C= (p.Arg4227=) c.7450C= (p.Arg2484=) c.7396C= (p.Arg2466=) c.12673C= (p.Arg4225=) | |
4 | g.125481595C>G | CA358132564 | FAT4 | c.12679C>G (p.Arg4227Gly) c.7450C>G (p.Arg2484Gly) c.7396C>G (p.Arg2466Gly) c.12673C>G (p.Arg4225Gly) | |
4 | g.125481595C>T | CA3074167 | FAT4 | c.12679C>T (p.Arg4227Trp) c.7450C>T (p.Arg2484Trp) c.7396C>T (p.Arg2466Trp) c.12673C>T (p.Arg4225Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.125481596G>A | CA3074168 | FAT4 | c.12680G>A (p.Arg4227Gln) c.7451G>A (p.Arg2484Gln) c.7397G>A (p.Arg2466Gln) c.12674G>A (p.Arg4225Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.125481596G>C | CA358132565 | FAT4 | c.12680G>C (p.Arg4227Pro) c.7451G>C (p.Arg2484Pro) c.7397G>C (p.Arg2466Pro) c.12674G>C (p.Arg4225Pro) | |
4 | g.125481596G= | CA1491668637 | FAT4 | c.12680G= (p.Arg4227=) c.7451G= (p.Arg2484=) c.7397G= (p.Arg2466=) c.12674G= (p.Arg4225=) | |
4 | g.125481596G>T | CA358132566 | FAT4 | c.12680G>T (p.Arg4227Leu) c.7451G>T (p.Arg2484Leu) c.7397G>T (p.Arg2466Leu) c.12674G>T (p.Arg4225Leu) | |
4 | g.125481597G>A | CA441204539 | FAT4 | c.12681G>A (p.Arg4227=) c.7452G>A (p.Arg2484=) c.7398G>A (p.Arg2466=) c.12675G>A (p.Arg4225=) | |
4 | g.125481597G>C | CA441204540 | FAT4 | c.12681G>C (p.Arg4227=) c.7452G>C (p.Arg2484=) c.7398G>C (p.Arg2466=) c.12675G>C (p.Arg4225=) | |
4 | g.125481597G>T | CA441204541 | FAT4 | c.12681G>T (p.Arg4227=) c.7452G>T (p.Arg2484=) c.7398G>T (p.Arg2466=) c.12675G>T (p.Arg4225=) | gnomAD v4 COSMIC COSMIC COSMIC |