Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.169552506T>C | CA1206146699 | F5 | c.1296+51A>G (n.1296+51A>G) c.885+51A>G (n.885+51A>G) | dbSNP gnomAD v4 |
1 | g.169552506T= | CA1206146698 | F5 | c.1296+51A= (n.1296+51A=) c.885+51A= (n.885+51A=) | |
1 | g.169552508A>G | CA2649035976 | F5 | c.1296+49T>C (n.1296+49T>C) c.885+49T>C (n.885+49T>C) | gnomAD v4 |
1 | g.169552509T>G | CA1234365 | F5 | c.1296+48A>C (n.1296+48A>C) c.885+48A>C (n.885+48A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.169552509T= | CA1142159956 | F5 | c.1296+48A= (n.1296+48A=) c.885+48A= (n.885+48A=) | |
1 | g.169552510A= | CA1206146704 | F5 | c.1296+47T= (n.1296+47T=) c.885+47T= (n.885+47T=) | |
1 | g.169552510A>G | CA890928437 | F5 | c.1296+47T>C (n.1296+47T>C) c.885+47T>C (n.885+47T>C) | dbSNP |
1 | g.169552514del | CA2649035977 | F5 | c.1296+46del (n.1296+46del) c.885+46del (n.885+46del) | gnomAD v4 |
1 | g.169552512T>G | CA1234366 | F5 | c.1296+45A>C (n.1296+45A>C) c.885+45A>C (n.885+45A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.169552512T= | CA1206146706 | F5 | c.1296+45A= (n.1296+45A=) c.885+45A= (n.885+45A=) | |
1 | g.169552515A>T | CA2649035978 | F5 | c.1296+42T>A (n.1296+42T>A) c.885+42T>A (n.885+42T>A) | gnomAD v4 |
1 | g.169552516C= | CA1206146708 | F5 | c.1296+41G= (n.1296+41G=) c.885+41G= (n.885+41G=) | |
1 | g.169552516C>G | CA2649035979 | F5 | c.1296+41G>C (n.1296+41G>C) c.885+41G>C (n.885+41G>C) | gnomAD v4 |
1 | g.169552516C>T | CA1234367 | F5 | c.1296+41G>A (n.1296+41G>A) c.885+41G>A (n.885+41G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.169552517T>C | CA2649035980 | F5 | c.1296+40A>G (n.1296+40A>G) c.885+40A>G (n.885+40A>G) | gnomAD v4 |
1 | g.169552518A= | CA1206146712 | F5 | c.1296+39T= (n.1296+39T=) c.885+39T= (n.885+39T=) | |
1 | g.169552518A>G | CA1234368 | F5 | c.1296+39T>C (n.1296+39T>C) c.885+39T>C (n.885+39T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.169552519T>A | CA1206146716 | F5 | c.1296+38A>T (n.1296+38A>T) c.885+38A>T (n.885+38A>T) | dbSNP |
1 | g.169552519T>C | CA1234369 | F5 | c.1296+38A>G (n.1296+38A>G) c.885+38A>G (n.885+38A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.169552519T>G | CA527131280 | F5 | c.1296+38A>C (n.1296+38A>C) c.885+38A>C (n.885+38A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.169552519T= | CA1206146715 | F5 | c.1296+38A= (n.1296+38A=) c.885+38A= (n.885+38A=) | |
1 | g.169552520G>A | CA1234370 | F5 | c.1296+37C>T (n.1296+37C>T) c.885+37C>T (n.885+37C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.169552520G= | CA1206146724 | F5 | c.1296+37C= (n.1296+37C=) c.885+37C= (n.885+37C=) | |
1 | g.169552520G>T | CA2649035983 | F5 | c.1296+37C>A (n.1296+37C>A) c.885+37C>A (n.885+37C>A) | dbSNP gnomAD v4 |
1 | g.169552521del | CA2649035984 | F5 | c.1296+36del (n.1296+36del) c.885+36del (n.885+36del) | gnomAD v4 |
1 | g.169552521T>A | CA1234371 | F5 | c.1296+36A>T (n.1296+36A>T) c.885+36A>T (n.885+36A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.169552521T>G | CA2746577912 | F5 | c.1296+36A>C (n.1296+36A>C) c.885+36A>C (n.885+36A>C) | |
1 | g.169552521T= | CA1206146725 | F5 | c.1296+36A= (n.1296+36A=) c.885+36A= (n.885+36A=) | |
1 | g.169552526T>C | CA2649035986 | F5 | c.1296+31A>G (n.1296+31A>G) c.885+31A>G (n.885+31A>G) | gnomAD v4 |
1 | g.169552527C= | CA1206146728 | F5 | c.1296+30G= (n.1296+30G=) c.885+30G= (n.885+30G=) | |
1 | g.169552527C>G | CA1234372 | F5 | c.1296+30G>C (n.1296+30G>C) c.885+30G>C (n.885+30G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.169552528T>G | CA2649035989 | F5 | c.1296+29A>C (n.1296+29A>C) c.885+29A>C (n.885+29A>C) | gnomAD v4 |
1 | g.169552529C= | CA1206146732 | F5 | c.1296+28G= (n.1296+28G=) c.885+28G= (n.885+28G=) | |
1 | g.169552529C>G | CA1234373 | F5 | c.1296+28G>C (n.1296+28G>C) c.885+28G>C (n.885+28G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.169552529C>T | CA1206146734 | F5 | c.1296+28G>A (n.1296+28G>A) c.885+28G>A (n.885+28G>A) | dbSNP |
1 | g.169552531C= | CA1148723283 | F5 | c.1296+26G= (n.1296+26G=) c.885+26G= (n.885+26G=) | |
1 | g.169552531C>T | CA1234374 | F5 | c.1296+26G>A (n.1296+26G>A) c.885+26G>A (n.885+26G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.169552532A= | CA1143443826 | F5 | c.1296+25T= (n.1296+25T=) c.885+25T= (n.885+25T=) | |
1 | g.169552532A>G | CA1234375 | F5 | c.1296+25T>C (n.1296+25T>C) c.885+25T>C (n.885+25T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.169552533T>C | CA2557356242 | F5 | c.1296+24A>G (n.1296+24A>G) c.885+24A>G (n.885+24A>G) | gnomAD v4 |
1 | g.169552533T>G | CA1234376 | F5 | c.1296+24A>C (n.1296+24A>C) c.885+24A>C (n.885+24A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.169552533T= | CA1144140125 | F5 | c.1296+24A= (n.1296+24A=) c.885+24A= (n.885+24A=) | |
1 | g.169552534G>A | CA1234377 | F5 | c.1296+23C>T (n.1296+23C>T) c.885+23C>T (n.885+23C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.169552534G= | CA1149055250 | F5 | c.1296+23C= (n.1296+23C=) c.885+23C= (n.885+23C=) | |
1 | g.169552534G>T | CA1206146741 | F5 | c.1296+23C>A (n.1296+23C>A) c.885+23C>A (n.885+23C>A) | dbSNP gnomAD v4 |
1 | g.169552535A>G | CA2649035996 | F5 | c.1296+22T>C (n.1296+22T>C) c.885+22T>C (n.885+22T>C) | gnomAD v4 |
1 | g.169552538C>T | CA2649035997 | F5 | c.1296+19G>A (n.1296+19G>A) c.885+19G>A (n.885+19G>A) | gnomAD v4 |
1 | g.169552539T>C | CA2649035999 | F5 | c.1296+18A>G (n.1296+18A>G) c.885+18A>G (n.885+18A>G) | gnomAD v4 |
1 | g.169552540G>C | CA1206146743 | F5 | c.1296+17C>G (n.1296+17C>G) c.885+17C>G (n.885+17C>G) | dbSNP |
1 | g.169552540G= | CA1206146742 | F5 | c.1296+17C= (n.1296+17C=) c.885+17C= (n.885+17C=) | |
1 | g.169552541T>C | CA1206146746 | F5 | c.1296+16A>G (n.1296+16A>G) c.885+16A>G (n.885+16A>G) | dbSNP gnomAD v4 |
1 | g.169552541T= | CA1206146745 | F5 | c.1296+16A= (n.1296+16A=) c.885+16A= (n.885+16A=) | |
1 | g.169552542A>G | CA2649036000 | F5 | c.1296+15T>C (n.1296+15T>C) c.885+15T>C (n.885+15T>C) | gnomAD v4 |
1 | g.169552542A>T | CA2649036002 | F5 | c.1296+15T>A (n.1296+15T>A) c.885+15T>A (n.885+15T>A) | gnomAD v4 |
1 | g.169552544T>C | CA527131281 | F5 | c.1296+13A>G (n.1296+13A>G) c.885+13A>G (n.885+13A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.169552544T= | CA1206146747 | F5 | c.1296+13A= (n.1296+13A=) c.885+13A= (n.885+13A=) | |
1 | g.169552545T>G | CA2739275393 | F5 | c.1296+12A>C (n.1296+12A>C) c.885+12A>C (n.885+12A>C) | ClinVar |
1 | g.169552546G= | CA1206146749 | F5 | c.1296+11C= (n.1296+11C=) c.885+11C= (n.885+11C=) | |
1 | g.169552546G>T | CA1008978407 | F5 | c.1296+11C>A (n.1296+11C>A) c.885+11C>A (n.885+11C>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.169552547T>G | CA1234378 | F5 | c.1296+10A>C (n.1296+10A>C) c.885+10A>C (n.885+10A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.169552547T= | CA1206146750 | F5 | c.1296+10A= (n.1296+10A=) c.885+10A= (n.885+10A=) | |
1 | g.169552548G>A | CA527131282 | F5 | c.1296+9C>T (n.1296+9C>T) c.885+9C>T (n.885+9C>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.169552548G= | CA1206146752 | F5 | c.1296+9C= (n.1296+9C=) c.885+9C= (n.885+9C=) | |
1 | g.169552549T>C | CA2649036003 | F5 | c.1296+8A>G (n.1296+8A>G) c.885+8A>G (n.885+8A>G) | gnomAD v4 |
1 | g.169552555_169552558del | CA2573948487 | F5 | c.1296+5_1296+8del c.885+5_885+8del | gnomAD v4 |
1 | g.169552551A>G | CA2586964395 | F5 | c.1296+6T>C (n.1296+6T>C) c.885+6T>C (n.885+6T>C) | |
1 | g.169552551A>T | CA2649036004 | F5 | c.1296+6T>A (n.1296+6T>A) c.885+6T>A (n.885+6T>A) | gnomAD v4 |
1 | g.169552553T>A | CA1234379 | F5 | c.1296+4A>T (n.1296+4A>T) c.885+4A>T (n.885+4A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.169552553T= | CA1206146754 | F5 | c.1296+4A= (n.1296+4A=) c.885+4A= (n.885+4A=) | |
1 | g.169552555A>C | CA343127544 | F5 | c.1296+2T>G (n.1296+2T>G) c.885+2T>G (n.885+2T>G) | |
1 | g.169552555A>G | CA343127546 | F5 | c.1296+2T>C (n.1296+2T>C) c.885+2T>C (n.885+2T>C) | gnomAD v4 |
1 | g.169552555A>T | CA343127532 | F5 | c.1296+2T>A (n.1296+2T>A) c.885+2T>A (n.885+2T>A) | |
1 | g.169552556C>A | CA343127554 | F5 | c.1296+1G>T (n.1296+1G>T) c.885+1G>T (n.885+1G>T) | |
1 | g.169552556C>G | CA343127558 | F5 | c.1296+1G>C (n.1296+1G>C) c.885+1G>C (n.885+1G>C) | |
1 | g.169552556C>T | CA343127561 | F5 | c.1296+1G>A (n.1296+1G>A) c.885+1G>A (n.885+1G>A) | |
1 | g.169552557T>A | CA343127564 | F5 | c.1296A>T (p.Lys432Asn) c.885A>T (p.Lys295Asn) | |
1 | g.169552557T>C | CA421732406 | F5 | c.1296A>G (p.Lys432=) c.885A>G (p.Lys295=) | gnomAD v4 |
1 | g.169552557T>G | CA343127566 | F5 | c.1296A>C (p.Lys432Asn) c.885A>C (p.Lys295Asn) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.169552557T= | CA1206146757 | F5 | c.1296A= (p.Lys432=) c.885A= (p.Lys295=) | |
1 | g.169552558T>A | CA343127570 | F5 | c.1295A>T (p.Lys432Ile) c.884A>T (p.Lys295Ile) | |
1 | g.169552558T>C | CA32388679 | F5 | c.1295A>G (p.Lys432Arg) c.884A>G (p.Lys295Arg) | dbSNP gnomAD v4 |
1 | g.169552558T>G | CA343127585 | F5 | c.1295A>C (p.Lys432Thr) c.884A>C (p.Lys295Thr) | |
1 | g.169552558T= | CA1206146763 | F5 | c.1295A= (p.Lys432=) c.884A= (p.Lys295=) | |
1 | g.169552559T>A | CA343127588 | F5 | c.1294A>T (p.Lys432Ter) c.883A>T (p.Lys295Ter) | |
1 | g.169552559T>C | CA343127592 | F5 | c.1294A>G (p.Lys432Glu) c.883A>G (p.Lys295Glu) | |
1 | g.169552559T>G | CA343127597 | F5 | c.1294A>C (p.Lys432Gln) c.883A>C (p.Lys295Gln) | |
1 | g.169552560G>A | CA421732421 | F5 | c.1293C>T (p.Leu431=) c.882C>T (p.Leu294=) | |
1 | g.169552560G>C | CA421732423 | F5 | c.1293C>G (p.Leu431=) c.882C>G (p.Leu294=) | gnomAD v4 |
1 | g.169552560G>T | CA421732424 | F5 | c.1293C>A (p.Leu431=) c.882C>A (p.Leu294=) | |
1 | g.169552561A= | CA1206146771 | F5 | c.1292T= (p.Leu431=) c.881T= (p.Leu294=) | |
1 | g.169552561A>C | CA343127606 | F5 | c.1292T>G (p.Leu431Arg) c.881T>G (p.Leu294Arg) | |
1 | g.169552561A>G | CA1234380 | F5 | c.1292T>C (p.Leu431Pro) c.881T>C (p.Leu294Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.169552561A>T | CA1234381 | F5 | c.1292T>A (p.Leu431His) c.881T>A (p.Leu294His) | dbSNP ExAC |
1 | g.169552562G>A | CA343127614 | F5 | c.1291C>T (p.Leu431Phe) c.880C>T (p.Leu294Phe) | |
1 | g.169552562G>C | CA343127616 | F5 | c.1291C>G (p.Leu431Val) c.880C>G (p.Leu294Val) | |
1 | g.169552562G>T | CA343127617 | F5 | c.1291C>A (p.Leu431Ile) c.880C>A (p.Leu294Ile) | gnomAD v4 |
1 | g.169552563T>A | CA421732437 | F5 | c.1290A>T (p.Thr430=) c.879A>T (p.Thr293=) | gnomAD v4 |
1 | g.169552563T>C | CA421732439 | F5 | c.1290A>G (p.Thr430=) c.879A>G (p.Thr293=) | dbSNP |
1 | g.169552563T>G | CA421732441 | F5 | c.1290A>C (p.Thr430=) c.879A>C (p.Thr293=) | |
1 | g.169552563T= | CA1206146772 | F5 | c.1290A= (p.Thr430=) c.879A= (p.Thr293=) | |
1 | g.169552564G>A | CA343127621 | F5 | c.1289C>T (p.Thr430Ile) c.878C>T (p.Thr293Ile) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.169552564G>C | CA343127625 | F5 | c.1289C>G (p.Thr430Arg) c.878C>G (p.Thr293Arg) | |
1 | g.169552564G= | CA1206146774 | F5 | c.1289C= (p.Thr430=) c.878C= (p.Thr293=) | |
1 | g.169552564G>T | CA343127626 | F5 | c.1289C>A (p.Thr430Lys) c.878C>A (p.Thr293Lys) | |
1 | g.169552565T>A | CA343127627 | F5 | c.1288A>T (p.Thr430Ser) c.877A>T (p.Thr293Ser) | |
1 | g.169552565T>C | CA343127629 | F5 | c.1288A>G (p.Thr430Ala) c.877A>G (p.Thr293Ala) | |
1 | g.169552565T>G | CA343127628 | F5 | c.1288A>C (p.Thr430Pro) c.877A>C (p.Thr293Pro) | |
1 | g.169552566G>A | CA421732451 | F5 | c.1287C>T (p.Asp429=) c.876C>T (p.Asp292=) | |
1 | g.169552566G>C | CA343127633 | F5 | c.1287C>G (p.Asp429Glu) c.876C>G (p.Asp292Glu) | ClinVar gnomAD v4 |
1 | g.169552566G>T | CA343127634 | F5 | c.1287C>A (p.Asp429Glu) c.876C>A (p.Asp292Glu) | |
1 | g.169552567T>A | CA343127636 | F5 | c.1286A>T (p.Asp429Val) c.875A>T (p.Asp292Val) | |
1 | g.169552567T>C | CA343127640 | F5 | c.1286A>G (p.Asp429Gly) c.875A>G (p.Asp292Gly) | |
1 | g.169552567T>G | CA343127644 | F5 | c.1286A>C (p.Asp429Ala) c.875A>C (p.Asp292Ala) | |
1 | g.169552568C>A | CA343127651 | F5 | c.1285G>T (p.Asp429Tyr) c.874G>T (p.Asp292Tyr) | |
1 | g.169552568C>G | CA343127653 | F5 | c.1285G>C (p.Asp429His) c.874G>C (p.Asp292His) | |
1 | g.169552568C>T | CA343127648 | F5 | c.1285G>A (p.Asp429Asn) c.874G>A (p.Asp292Asn) | |
1 | g.169552569T>A | CA343127668 | F5 | c.1284A>T (p.Arg428Ser) c.873A>T (p.Arg291Ser) | |
1 | g.169552569T>C | CA421732464 | F5 | c.1284A>G (p.Arg428=) c.873A>G (p.Arg291=) | gnomAD v4 |
1 | g.169552569T>G | CA343127658 | F5 | c.1284A>C (p.Arg428Ser) c.873A>C (p.Arg291Ser) | |
1 | g.169552570C>A | CA343127670 | F5 | c.1283G>T (p.Arg428Ile) c.872G>T (p.Arg291Ile) | |
1 | g.169552570C>G | CA343127672 | F5 | c.1283G>C (p.Arg428Thr) c.872G>C (p.Arg291Thr) | |
1 | g.169552570C>T | CA343127674 | F5 | c.1283G>A (p.Arg428Lys) c.872G>A (p.Arg291Lys) | |
1 | g.169552571T>A | CA343127683 | F5 | c.1282A>T (p.Arg428Ter) c.871A>T (p.Arg291Ter) | |
1 | g.169552571T>C | CA32388680 | F5 | c.1282A>G (p.Arg428Gly) c.871A>G (p.Arg291Gly) | dbSNP |
1 | g.169552571T>G | CA421732474 | F5 | c.1282A>C (p.Arg428=) c.871A>C (p.Arg291=) | |
1 | g.169552571T= | CA1143432440 | F5 | c.1282A= (p.Arg428=) c.871A= (p.Arg291=) | |
1 | g.169552572G>A | CA421732476 | F5 | c.1281C>T (p.Val427=) c.870C>T (p.Val290=) | |
1 | g.169552572G>C | CA421732478 | F5 | c.1281C>G (p.Val427=) c.870C>G (p.Val290=) | ClinVar dbSNP gnomAD v4 |
1 | g.169552572G= | CA1206146777 | F5 | c.1281C= (p.Val427=) c.870C= (p.Val290=) | |
1 | g.169552572G>T | CA421732479 | F5 | c.1281C>A (p.Val427=) c.870C>A (p.Val290=) | |
1 | g.169552573A>C | CA343127711 | F5 | c.1280T>G (p.Val427Gly) c.869T>G (p.Val290Gly) | |
1 | g.169552573A>G | CA343127701 | F5 | c.1280T>C (p.Val427Ala) c.869T>C (p.Val290Ala) | |
1 | g.169552573A>T | CA343127704 | F5 | c.1280T>A (p.Val427Asp) c.869T>A (p.Val290Asp) | |
1 | g.169552574C>A | CA343127717 | F5 | c.1279G>T (p.Val427Phe) c.868G>T (p.Val290Phe) | gnomAD v4 |
1 | g.169552574C= | CA1206146780 | F5 | c.1279G= (p.Val427=) c.868G= (p.Val290=) | |
1 | g.169552574C>G | CA343127744 | F5 | c.1279G>C (p.Val427Leu) c.868G>C (p.Val290Leu) | |
1 | g.169552574C>T | CA343127747 | F5 | c.1279G>A (p.Val427Ile) c.868G>A (p.Val290Ile) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.169552575C>A | CA343127749 | F5 | c.1278G>T (p.Gln426His) c.867G>T (p.Gln289His) | |
1 | g.169552575C>G | CA343127750 | F5 | c.1278G>C (p.Gln426His) c.867G>C (p.Gln289His) | COSMIC |
1 | g.169552575C>T | CA421732482 | F5 | c.1278G>A (p.Gln426=) c.867G>A (p.Gln289=) | |
1 | g.169552576T>A | CA343127751 | F5 | c.1277A>T (p.Gln426Leu) c.866A>T (p.Gln289Leu) | COSMIC |
1 | g.169552576T>C | CA343127763 | F5 | c.1277A>G (p.Gln426Arg) c.866A>G (p.Gln289Arg) | |
1 | g.169552576T>G | CA343127755 | F5 | c.1277A>C (p.Gln426Pro) c.866A>C (p.Gln289Pro) | |
1 | g.169552577G>A | CA32388681 | F5 | c.1276C>T (p.Gln426Ter) c.865C>T (p.Gln289Ter) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.169552577G>C | CA343127775 | F5 | c.1276C>G (p.Gln426Glu) c.865C>G (p.Gln289Glu) | |
1 | g.169552577G= | CA1206146785 | F5 | c.1276C= (p.Gln426=) c.865C= (p.Gln289=) | |
1 | g.169552577G>T | CA343127777 | F5 | c.1276C>A (p.Gln426Lys) c.865C>A (p.Gln289Lys) | |
1 | g.169552578G>A | CA421732487 | F5 | c.1275C>T (p.Ala425=) c.864C>T (p.Ala288=) | |
1 | g.169552578G>C | CA421732489 | F5 | c.1275C>G (p.Ala425=) c.864C>G (p.Ala288=) | |
1 | g.169552578G= | CA1206146788 | F5 | c.1275C= (p.Ala425=) c.864C= (p.Ala288=) | |
1 | g.169552578G>T | CA421732491 | F5 | c.1275C>A (p.Ala425=) c.864C>A (p.Ala288=) | dbSNP |
1 | g.169552579G>A | CA343127780 | F5 | c.1274C>T (p.Ala425Val) c.863C>T (p.Ala288Val) | gnomAD v4 |
1 | g.169552579G>C | CA343127785 | F5 | c.1274C>G (p.Ala425Gly) c.863C>G (p.Ala288Gly) | |
1 | g.169552579G>T | CA343127786 | F5 | c.1274C>A (p.Ala425Asp) c.863C>A (p.Ala288Asp) | |
1 | g.169552580C>A | CA343127789 | F5 | c.1273G>T (p.Ala425Ser) c.862G>T (p.Ala288Ser) | |
1 | g.169552580C>G | CA343127791 | F5 | c.1273G>C (p.Ala425Pro) c.862G>C (p.Ala288Pro) | |
1 | g.169552580C>T | CA343127795 | F5 | c.1273G>A (p.Ala425Thr) c.862G>A (p.Ala288Thr) | |
1 | g.169552581T>A | CA343127801 | F5 | c.1272A>T (p.Arg424Ser) c.861A>T (p.Arg287Ser) | |
1 | g.169552581T>C | CA421732502 | F5 | c.1272A>G (p.Arg424=) c.861A>G (p.Arg287=) | |
1 | g.169552581T>G | CA343127811 | F5 | c.1272A>C (p.Arg424Ser) c.861A>C (p.Arg287Ser) | |
1 | g.169552582C>A | CA343127833 | F5 | c.1271G>T (p.Arg424Ile) c.860G>T (p.Arg287Ile) | |
1 | g.169552582C>G | CA343127824 | F5 | c.1271G>C (p.Arg424Thr) c.860G>C (p.Arg287Thr) | |
1 | g.169552582C>T | CA343127815 | F5 | c.1271G>A (p.Arg424Lys) c.860G>A (p.Arg287Lys) | |
1 | g.169552583T>A | CA343127837 | F5 | c.1270A>T (p.Arg424Ter) c.859A>T (p.Arg287Ter) | |
1 | g.169552583T>C | CA343127840 | F5 | c.1270A>G (p.Arg424Gly) c.859A>G (p.Arg287Gly) | |
1 | g.169552583T>G | CA421732503 | F5 | c.1270A>C (p.Arg424=) c.859A>C (p.Arg287=) | |
1 | g.169552584G>A | CA421732504 | F5 | c.1269C>T (p.Ile423=) c.858C>T (p.Ile286=) | |
1 | g.169552584G>C | CA1234382 | F5 | c.1269C>G (p.Ile423Met) c.858C>G (p.Ile286Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.169552584G= | CA1206146793 | F5 | c.1269C= (p.Ile423=) c.858C= (p.Ile286=) | |
1 | g.169552584G>T | CA421732505 | F5 | c.1269C>A (p.Ile423=) c.858C>A (p.Ile286=) | |
1 | g.169552585A>C | CA343127843 | F5 | c.1268T>G (p.Ile423Ser) c.857T>G (p.Ile286Ser) | |
1 | g.169552585A>G | CA343127844 | F5 | c.1268T>C (p.Ile423Thr) c.857T>C (p.Ile286Thr) | |
1 | g.169552585A>T | CA343127845 | F5 | c.1268T>A (p.Ile423Asn) c.857T>A (p.Ile286Asn) | |
1 | g.169552586T>A | CA343127846 | F5 | c.1267A>T (p.Ile423Phe) c.856A>T (p.Ile286Phe) | |
1 | g.169552586T>C | CA343127851 | F5 | c.1267A>G (p.Ile423Val) c.856A>G (p.Ile286Val) | gnomAD v4 |
1 | g.169552586T>G | CA343127860 | F5 | c.1267A>C (p.Ile423Leu) c.856A>C (p.Ile286Leu) | |
1 | g.169552587A>C | CA343127862 | F5 | c.1266T>G (p.Ile422Met) c.855T>G (p.Ile285Met) | |
1 | g.169552587A>G | CA421732507 | F5 | c.1266T>C (p.Ile422=) c.855T>C (p.Ile285=) | |
1 | g.169552587A>T | CA421732506 | F5 | c.1266T>A (p.Ile422=) c.855T>A (p.Ile285=) | |
1 | g.169552588A>C | CA343127868 | F5 | c.1265T>G (p.Ile422Ser) c.854T>G (p.Ile285Ser) | |
1 | g.169552588A>G | CA343127875 | F5 | c.1265T>C (p.Ile422Thr) c.854T>C (p.Ile285Thr) | ClinVar dbSNP |
1 | g.169552588A>T | CA343127878 | F5 | c.1265T>A (p.Ile422Asn) c.854T>A (p.Ile285Asn) | |
1 | g.169552589T>A | CA343127896 | F5 | c.1264A>T (p.Ile422Phe) c.853A>T (p.Ile285Phe) | |
1 | g.169552589T>C | CA343127888 | F5 | c.1264A>G (p.Ile422Val) c.853A>G (p.Ile285Val) | dbSNP gnomAD v4 |
1 | g.169552589T>G | CA343127893 | F5 | c.1264A>C (p.Ile422Leu) c.853A>C (p.Ile285Leu) | |
1 | g.169552589T= | CA1206146797 | F5 | c.1264A= (p.Ile422=) c.853A= (p.Ile285=) | |
1 | g.169552590A= | CA1206146802 | F5 | c.1263T= (p.Pro421=) c.852T= (p.Pro284=) | |
1 | g.169552590A>C | CA421732508 | F5 | c.1263T>G (p.Pro421=) c.852T>G (p.Pro284=) | |
1 | g.169552590A>G | CA1234383 | F5 | c.1263T>C (p.Pro421=) c.852T>C (p.Pro284=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.169552590A>T | CA421732509 | F5 | c.1263T>A (p.Pro421=) c.852T>A (p.Pro284=) | |
1 | g.169552591G>A | CA343127903 | F5 | c.1262C>T (p.Pro421Leu) c.851C>T (p.Pro284Leu) | |
1 | g.169552591G>C | CA343127906 | F5 | c.1262C>G (p.Pro421Arg) c.851C>G (p.Pro284Arg) | |
1 | g.169552591G>T | CA343127910 | F5 | c.1262C>A (p.Pro421His) c.851C>A (p.Pro284His) | |
1 | g.169552592G>A | CA343127917 | F5 | c.1261C>T (p.Pro421Ser) c.850C>T (p.Pro284Ser) | |
1 | g.169552592G>C | CA343127929 | F5 | c.1261C>G (p.Pro421Ala) c.850C>G (p.Pro284Ala) | |
1 | g.169552592G= | CA1206146804 | F5 | c.1261C= (p.Pro421=) c.850C= (p.Pro284=) | |
1 | g.169552592G>T | CA343127931 | F5 | c.1261C>A (p.Pro421Thr) c.850C>A (p.Pro284Thr) | dbSNP |
1 | g.169552593A= | CA1206146806 | F5 | c.1260T= (p.Gly420=) c.849T= (p.Gly283=) | |
1 | g.169552593A>C | CA421732510 | F5 | c.1260T>G (p.Gly420=) c.849T>G (p.Gly283=) | |
1 | g.169552593A>G | CA421732511 | F5 | c.1260T>C (p.Gly420=) c.849T>C (p.Gly283=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.169552593A>T | CA421732512 | F5 | c.1260T>A (p.Gly420=) c.849T>A (p.Gly283=) | |
1 | g.169552594C>A | CA343127939 | F5 | c.1259G>T (p.Gly420Val) c.848G>T (p.Gly283Val) | |
1 | g.169552594C>G | CA343127940 | F5 | c.1259G>C (p.Gly420Ala) c.848G>C (p.Gly283Ala) | |
1 | g.169552594C>T | CA343127961 | F5 | c.1259G>A (p.Gly420Asp) c.848G>A (p.Gly283Asp) | |
1 | g.169552595C>A | CA343127965 | F5 | c.1258G>T (p.Gly420Cys) c.847G>T (p.Gly283Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.169552595C= | CA1206146809 | F5 | c.1258G= (p.Gly420=) c.847G= (p.Gly283=) | |
1 | g.169552595C>G | CA343127977 | F5 | c.1258G>C (p.Gly420Arg) c.847G>C (p.Gly283Arg) | |
1 | g.169552595C>T | CA343127978 | F5 | c.1258G>A (p.Gly420Ser) c.847G>A (p.Gly283Ser) | |
1 | g.169552596C>A | CA343127993 | F5 | c.1257G>T (p.Leu419Phe) c.846G>T (p.Leu282Phe) | |
1 | g.169552596C>G | CA343127979 | F5 | c.1257G>C (p.Leu419Phe) c.846G>C (p.Leu282Phe) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.169552596C>T | CA421732513 | F5 | c.1257G>A (p.Leu419=) c.846G>A (p.Leu282=) | |
1 | g.169552597A>C | CA343128000 | F5 | c.1256T>G (p.Leu419Trp) c.845T>G (p.Leu282Trp) | |
1 | g.169552597A>G | CA343128008 | F5 | c.1256T>C (p.Leu419Ser) c.845T>C (p.Leu282Ser) | |
1 | g.169552597A>T | CA343128007 | F5 | c.1256T>A (p.Leu419Ter) c.845T>A (p.Leu282Ter) | |
1 | g.169552600dup | CA2649036043 | F5 | c.1256dup (p.Leu419PhefsTer26) c.845dup (p.Leu282PhefsTer26) | gnomAD v4 |
1 | g.169552598A>C | CA343128009 | F5 | c.1255T>G (p.Leu419Val) c.844T>G (p.Leu282Val) | |
1 | g.169552598A>G | CA421732514 | F5 | c.1255T>C (p.Leu419=) c.844T>C (p.Leu282=) | |
1 | g.169552598A>T | CA343128010 | F5 | c.1255T>A (p.Leu419Met) c.844T>A (p.Leu282Met) | |
1 | g.169552599A>C | CA343128011 | F5 | c.1254T>G (p.Ile418Met) c.843T>G (p.Ile281Met) | |
1 | g.169552599A>G | CA421732515 | F5 | c.1254T>C (p.Ile418=) c.843T>C (p.Ile281=) | |
1 | g.169552599A>T | CA421732516 | F5 | c.1254T>A (p.Ile418=) c.843T>A (p.Ile281=) | |
1 | g.169552600A= | CA1206146812 | F5 | c.1253T= (p.Ile418=) c.842T= (p.Ile281=) | |
1 | g.169552600A>C | CA343128013 | F5 | c.1253T>G (p.Ile418Ser) c.842T>G (p.Ile281Ser) | |
1 | g.169552600A>G | CA1234384 | F5 | c.1253T>C (p.Ile418Thr) c.842T>C (p.Ile281Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.169552600A>T | CA343128016 | F5 | c.1253T>A (p.Ile418Asn) c.842T>A (p.Ile281Asn) | |
1 | g.169552601T>A | CA343128035 | F5 | c.1252A>T (p.Ile418Phe) c.841A>T (p.Ile281Phe) | |
1 | g.169552601T>C | CA343128041 | F5 | c.1252A>G (p.Ile418Val) c.841A>G (p.Ile281Val) | dbSNP |
1 | g.169552601T>G | CA343128045 | F5 | c.1252A>C (p.Ile418Leu) c.841A>C (p.Ile281Leu) | |
1 | g.169552601T= | CA1206146817 | F5 | c.1252A= (p.Ile418=) c.841A= (p.Ile281=) | |
1 | g.169552602C>A | CA421732517 | F5 | c.1251G>T (p.Gly417=) c.840G>T (p.Gly280=) | |
1 | g.169552602C>G | CA421732518 | F5 | c.1251G>C (p.Gly417=) c.840G>C (p.Gly280=) | gnomAD v4 |
1 | g.169552602C>T | CA421732519 | F5 | c.1251G>A (p.Gly417=) c.840G>A (p.Gly280=) | |
1 | g.169552603C>A | CA343128049 | F5 | c.1250G>T (p.Gly417Val) c.839G>T (p.Gly280Val) | |
1 | g.169552603C>G | CA343128052 | F5 | c.1250G>C (p.Gly417Ala) c.839G>C (p.Gly280Ala) | |
1 | g.169552603C>T | CA343128055 | F5 | c.1250G>A (p.Gly417Glu) c.839G>A (p.Gly280Glu) | |
1 | g.169552604C>A | CA343128062 | F5 | c.1249G>T (p.Gly417Trp) c.838G>T (p.Gly280Trp) | |
1 | g.169552604C>G | CA343128067 | F5 | c.1249G>C (p.Gly417Arg) c.838G>C (p.Gly280Arg) | |
1 | g.169552604C>T | CA343128069 | F5 | c.1249G>A (p.Gly417Arg) c.838G>A (p.Gly280Arg) | |
1 | g.169552605A>C | CA343128071 | F5 | c.1248T>G (p.Asp416Glu) c.837T>G (p.Asp279Glu) | |
1 | g.169552605A>G | CA421732520 | F5 | c.1248T>C (p.Asp416=) c.837T>C (p.Asp279=) | |
1 | g.169552605A>T | CA343128073 | F5 | c.1248T>A (p.Asp416Glu) c.837T>A (p.Asp279Glu) | |
1 | g.169552606T>A | CA343128075 | F5 | c.1247A>T (p.Asp416Val) c.836A>T (p.Asp279Val) | |
1 | g.169552606T>C | CA343128078 | F5 | c.1247A>G (p.Asp416Gly) c.836A>G (p.Asp279Gly) | |
1 | g.169552606T>G | CA343128090 | F5 | c.1247A>C (p.Asp416Ala) c.836A>C (p.Asp279Ala) | |
1 | g.169552610_169552612del | CA2649036050 | F5 | c.1245_1247del (p.Glu415del) c.834_836del (p.Glu278del) | gnomAD v4 |