Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.47574643T>C | CA2427971364 | SYN1 | c.1393+45A>G (n.1393+45A>G) c.70+45A>G (n.70+45A>G) | dbSNP gnomAD v4 |
X | g.47574643T>G | CA2693585284 | SYN1 | c.1393+45A>C (n.1393+45A>C) c.70+45A>C (n.70+45A>C) | gnomAD v4 |
X | g.47574643T= | CA2427971363 | SYN1 | c.1393+45A= (n.1393+45A=) c.70+45A= (n.70+45A=) | |
X | g.47574645G>T | CA2693585285 | SYN1 | c.1393+43C>A (n.1393+43C>A) c.70+43C>A (n.70+43C>A) | gnomAD v4 |
X | g.47574645_47574657delinsGCGGGCTGAGGGA | CA2427971365 | SYN1 | c.1393+31_1393+43delinsTCCCTCAGCCCGC (n.1393+31_1393+43delinsTCCCTCAGCCCGC) c.70+31_70+43delinsTCCCTCAGCCCGC (n.70+31_70+43delinsTCCCTCAGCCCGC) | |
X | g.47574646C>A | CA2693585286 | SYN1 | c.1393+42G>T (n.1393+42G>T) c.70+42G>T (n.70+42G>T) | gnomAD v4 |
X | g.47574646C>T | CA2579596697 | SYN1 | c.1393+42G>A (n.1393+42G>A) c.70+42G>A (n.70+42G>A) | gnomAD v4 |
X | g.47574646_47574657del | CA10398357 | SYN1 | c.1393+31_1393+42del (n.1393+31_1393+42del) c.70+31_70+42del (n.70+31_70+42del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.47574647G>A | CA2427971366 | SYN1 | c.1393+41C>T (n.1393+41C>T) c.70+41C>T (n.70+41C>T) | dbSNP gnomAD v4 |
X | g.47574647G= | CA2427971367 | SYN1 | c.1393+41C= (n.1393+41C=) c.70+41C= (n.70+41C=) | |
X | g.47574648G>C | CA2693585287 | SYN1 | c.1393+40C>G (n.1393+40C>G) c.70+40C>G (n.70+40C>G) | gnomAD v4 |
X | g.47574648G>T | CA2579596698 | SYN1 | c.1393+40C>A (n.1393+40C>A) c.70+40C>A (n.70+40C>A) | gnomAD v4 |
X | g.47574649G>A | CA1132893274 | SYN1 | c.1393+39C>T (n.1393+39C>T) c.70+39C>T (n.70+39C>T) | dbSNP gnomAD v3 gnomAD v4 |
X | g.47574649G= | CA2427971368 | SYN1 | c.1393+39C= (n.1393+39C=) c.70+39C= (n.70+39C=) | |
X | g.47574649G>T | CA2693585288 | SYN1 | c.1393+39C>A (n.1393+39C>A) c.70+39C>A (n.70+39C>A) | gnomAD v4 |
X | g.47574650C>A | CA2693585289 | SYN1 | c.1393+38G>T (n.1393+38G>T) c.70+38G>T (n.70+38G>T) | gnomAD v4 |
X | g.47574652G>T | CA2693585290 | SYN1 | c.1393+36C>A (n.1393+36C>A) c.70+36C>A (n.70+36C>A) | gnomAD v4 |
X | g.47574653A>C | CA2693585291 | SYN1 | c.1393+35T>G (n.1393+35T>G) c.70+35T>G (n.70+35T>G) | gnomAD v4 |
X | g.47574653A>G | CA2693585292 | SYN1 | c.1393+35T>C (n.1393+35T>C) c.70+35T>C (n.70+35T>C) | gnomAD v4 |
X | g.47574654G>T | CA2693585293 | SYN1 | c.1393+34C>A (n.1393+34C>A) c.70+34C>A (n.70+34C>A) | gnomAD v4 |
X | g.47574655G>A | CA2427971370 | SYN1 | c.1393+33C>T (n.1393+33C>T) c.70+33C>T (n.70+33C>T) | dbSNP gnomAD v4 |
X | g.47574655G= | CA2427971369 | SYN1 | c.1393+33C= (n.1393+33C=) c.70+33C= (n.70+33C=) | |
X | g.47574655G>T | CA2579596699 | SYN1 | c.1393+33C>A (n.1393+33C>A) c.70+33C>A (n.70+33C>A) | |
X | g.47574656G>C | CA875820247 | SYN1 | c.1393+32C>G (n.1393+32C>G) c.70+32C>G (n.70+32C>G) | dbSNP gnomAD v3 gnomAD v4 |
X | g.47574656G= | CA2427971371 | SYN1 | c.1393+32C= (n.1393+32C=) c.70+32C= (n.70+32C=) | |
X | g.47574656G>T | CA2579596700 | SYN1 | c.1393+32C>A (n.1393+32C>A) c.70+32C>A (n.70+32C>A) | |
X | g.47574657A>G | CA2693585294 | SYN1 | c.1393+31T>C (n.1393+31T>C) c.70+31T>C (n.70+31T>C) | gnomAD v4 |
X | g.47574658G>T | CA2693585295 | SYN1 | c.1393+30C>A (n.1393+30C>A) c.70+30C>A (n.70+30C>A) | gnomAD v4 |
X | g.47574659G>A | CA641900902 | SYN1 | c.1393+29C>T (n.1393+29C>T) c.70+29C>T (n.70+29C>T) | dbSNP gnomAD v2 gnomAD v4 |
X | g.47574659G= | CA2427971372 | SYN1 | c.1393+29C= (n.1393+29C=) c.70+29C= (n.70+29C=) | |
X | g.47574659G>T | CA2693585296 | SYN1 | c.1393+29C>A (n.1393+29C>A) c.70+29C>A (n.70+29C>A) | gnomAD v4 |
X | g.47574660G>A | CA2579596701 | SYN1 | c.1393+28C>T (n.1393+28C>T) c.70+28C>T (n.70+28C>T) | |
X | g.47574660G>C | CA2427971374 | SYN1 | c.1393+28C>G (n.1393+28C>G) c.70+28C>G (n.70+28C>G) | dbSNP |
X | g.47574660G= | CA2427971373 | SYN1 | c.1393+28C= (n.1393+28C=) c.70+28C= (n.70+28C=) | |
X | g.47574660G>T | CA2693585297 | SYN1 | c.1393+28C>A (n.1393+28C>A) c.70+28C>A (n.70+28C>A) | gnomAD v4 |
X | g.47574661G>T | CA2693585298 | SYN1 | c.1393+27C>A (n.1393+27C>A) c.70+27C>A (n.70+27C>A) | gnomAD v4 |
X | g.47574663C>T | CA2579596702 | SYN1 | c.1393+25G>A (n.1393+25G>A) c.70+25G>A (n.70+25G>A) | |
X | g.47574664T>A | CA2693585299 | SYN1 | c.1393+24A>T (n.1393+24A>T) c.70+24A>T (n.70+24A>T) | gnomAD v4 |
X | g.47574664T>C | CA2693585300 | SYN1 | c.1393+24A>G (n.1393+24A>G) c.70+24A>G (n.70+24A>G) | gnomAD v4 |
X | g.47574665G>A | CA2536081315 | SYN1 | c.1393+23C>T (n.1393+23C>T) c.70+23C>T (n.70+23C>T) | gnomAD v4 |
X | g.47574665G>T | CA2579596703 | SYN1 | c.1393+23C>A (n.1393+23C>A) c.70+23C>A (n.70+23C>A) | gnomAD v4 |
X | g.47574666_47574667del | CA2579596704 | SYN1 | c.1393+22_1393+23del (n.1393+22_1393+23del) c.70+22_70+23del (n.70+22_70+23del) | |
X | g.47574666C= | CA2427971375 | SYN1 | c.1393+22G= (n.1393+22G=) c.70+22G= (n.70+22G=) | |
X | g.47574666C>G | CA2693585301 | SYN1 | c.1393+22G>C (n.1393+22G>C) c.70+22G>C (n.70+22G>C) | gnomAD v4 |
X | g.47574666C>T | CA10398358 | SYN1 | c.1393+22G>A (n.1393+22G>A) c.70+22G>A (n.70+22G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.47574667G>A | CA2693585302 | SYN1 | c.1393+21C>T (n.1393+21C>T) c.70+21C>T (n.70+21C>T) | gnomAD v4 |
X | g.47574667G>T | CA2566158300 | SYN1 | c.1393+21C>A (n.1393+21C>A) c.70+21C>A (n.70+21C>A) | gnomAD v4 |
X | g.47574668A= | CA2427971376 | SYN1 | c.1393+20T= (n.1393+20T=) c.70+20T= (n.70+20T=) | |
X | g.47574668A>C | CA329057446 | SYN1 | c.1393+20T>G (n.1393+20T>G) c.70+20T>G (n.70+20T>G) | dbSNP |
X | g.47574669C>A | CA2693585303 | SYN1 | c.1393+19G>T (n.1393+19G>T) c.70+19G>T (n.70+19G>T) | gnomAD v4 |
X | g.47574670C>A | CA641900903 | SYN1 | c.1393+18G>T (n.1393+18G>T) c.70+18G>T (n.70+18G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.47574670C= | CA2427971377 | SYN1 | c.1393+18G= (n.1393+18G=) c.70+18G= (n.70+18G=) | |
X | g.47574670C>T | CA2579596705 | SYN1 | c.1393+18G>A (n.1393+18G>A) c.70+18G>A (n.70+18G>A) | gnomAD v4 |
X | g.47574671G>A | CA10398359 | SYN1 | c.1393+17C>T (n.1393+17C>T) c.70+17C>T (n.70+17C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.47574671G= | CA2427971378 | SYN1 | c.1393+17C= (n.1393+17C=) c.70+17C= (n.70+17C=) | |
X | g.47574671G>T | CA2579596706 | SYN1 | c.1393+17C>A (n.1393+17C>A) c.70+17C>A (n.70+17C>A) | gnomAD v4 |
X | g.47574672C>A | CA2693585304 | SYN1 | c.1393+16G>T (n.1393+16G>T) c.70+16G>T (n.70+16G>T) | gnomAD v4 |
X | g.47574673C>A | CA2693585305 | SYN1 | c.1393+15G>T (n.1393+15G>T) c.70+15G>T (n.70+15G>T) | gnomAD v4 |
X | g.47574673C= | CA2427971379 | SYN1 | c.1393+15G= (n.1393+15G=) c.70+15G= (n.70+15G=) | |
X | g.47574673C>T | CA641900904 | SYN1 | c.1393+15G>A (n.1393+15G>A) c.70+15G>A (n.70+15G>A) | dbSNP gnomAD v2 gnomAD v4 |
X | g.47574674A>T | CA2579596707 | SYN1 | c.1393+14T>A (n.1393+14T>A) c.70+14T>A (n.70+14T>A) | gnomAD v4 |
X | g.47574675G>C | CA2693585306 | SYN1 | c.1393+13C>G (n.1393+13C>G) c.70+13C>G (n.70+13C>G) | gnomAD v4 |
X | g.47574675G>T | CA2693585307 | SYN1 | c.1393+13C>A (n.1393+13C>A) c.70+13C>A (n.70+13C>A) | gnomAD v4 |
X | g.47574676C>A | CA2693585308 | SYN1 | c.1393+12G>T (n.1393+12G>T) c.70+12G>T (n.70+12G>T) | gnomAD v4 |
X | g.47574676C>T | CA2693585309 | SYN1 | c.1393+12G>A (n.1393+12G>A) c.70+12G>A (n.70+12G>A) | gnomAD v4 |
X | g.47574677C>T | CA2579596708 | SYN1 | c.1393+11G>A (n.1393+11G>A) c.70+11G>A (n.70+11G>A) | |
X | g.47574678T>C | CA875820263 | SYN1 | c.1393+10A>G (n.1393+10A>G) c.70+10A>G (n.70+10A>G) | dbSNP |
X | g.47574678T= | CA2427971380 | SYN1 | c.1393+10A= (n.1393+10A=) c.70+10A= (n.70+10A=) | |
X | g.47574679C>A | CA2693585310 | SYN1 | c.1393+9G>T (n.1393+9G>T) c.70+9G>T (n.70+9G>T) | gnomAD v4 |
X | g.47574680T>A | CA2693585311 | SYN1 | c.1393+8A>T (n.1393+8A>T) c.70+8A>T (n.70+8A>T) | gnomAD v4 |
X | g.47574681C>A | CA2693585312 | SYN1 | c.1393+7G>T (n.1393+7G>T) c.70+7G>T (n.70+7G>T) | gnomAD v4 |
X | g.47574681C= | CA2427971381 | SYN1 | c.1393+7G= (n.1393+7G=) c.70+7G= (n.70+7G=) | |
X | g.47574681C>G | CA641900905 | SYN1 | c.1393+7G>C (n.1393+7G>C) c.70+7G>C (n.70+7G>C) | dbSNP gnomAD v2 gnomAD v4 |
X | g.47574682G>A | CA641900906 | SYN1 | c.1393+6C>T (n.1393+6C>T) c.70+6C>T (n.70+6C>T) | dbSNP gnomAD v2 gnomAD v4 |
X | g.47574682G= | CA2427971382 | SYN1 | c.1393+6C= (n.1393+6C=) c.70+6C= (n.70+6C=) | |
X | g.47574682G>T | CA2579596709 | SYN1 | c.1393+6C>A (n.1393+6C>A) c.70+6C>A (n.70+6C>A) | gnomAD v4 |
X | g.47574683C>A | CA2693585313 | SYN1 | c.1393+5G>T (n.1393+5G>T) c.70+5G>T (n.70+5G>T) | gnomAD v4 |
X | g.47574684T>G | CA2820775729 | SYN1 | c.1393+4A>C (n.1393+4A>C) c.70+4A>C (n.70+4A>C) | |
X | g.47574686del | CA2579596710 | SYN1 | c.1393+2del (n.1393+2del) c.70+2del (n.70+2del) | |
X | g.47574686A>C | CA412824390 | SYN1 | c.1393+2T>G (n.1393+2T>G) c.70+2T>G (n.70+2T>G) | |
X | g.47574686A>G | CA412824388 | SYN1 | c.1393+2T>C (n.1393+2T>C) c.70+2T>C (n.70+2T>C) | |
X | g.47574686A>T | CA412824377 | SYN1 | c.1393+2T>A (n.1393+2T>A) c.70+2T>A (n.70+2T>A) | |
X | g.47574687C>A | CA412824399 | SYN1 | c.1393+1G>T (n.1393+1G>T) c.70+1G>T (n.70+1G>T) | |
X | g.47574687C>G | CA412824394 | SYN1 | c.1393+1G>C (n.1393+1G>C) c.70+1G>C (n.70+1G>C) | |
X | g.47574687C>T | CA412824397 | SYN1 | c.1393+1G>A (n.1393+1G>A) c.70+1G>A (n.70+1G>A) | |
X | g.47574688C>A | CA412824403 | SYN1 | c.1393G>T (p.Gly465Cys) c.70G>T (p.Glu24Ter) | gnomAD v4 |
X | g.47574688C>G | CA412824407 | SYN1 | c.1393G>C (p.Gly465Arg) c.70G>C (p.Glu24Gln) | |
X | g.47574688C>T | CA412824409 | SYN1 | c.1393G>A (p.Gly465Ser) c.70G>A (p.Glu24Lys) | gnomAD v4 |
X | g.47574689C>A | CA412824413 | SYN1 | c.1392G>T (p.Gln464His) c.69G>T (p.Gln23His) | gnomAD v4 |
X | g.47574689C>G | CA412824415 | SYN1 | c.1392G>C (p.Gln464His) c.69G>C (p.Gln23His) | |
X | g.47574689C>T | CA515991206 | SYN1 | c.1392G>A (p.Gln464=) c.69G>A (p.Gln23=) | |
X | g.47574690T>A | CA412824418 | SYN1 | c.1391A>T (p.Gln464Leu) c.68A>T (p.Gln23Leu) | |
X | g.47574690T>C | CA412824420 | SYN1 | c.1391A>G (p.Gln464Arg) c.68A>G (p.Gln23Arg) | gnomAD v4 |
X | g.47574690T>G | CA412824422 | SYN1 | c.1391A>C (p.Gln464Pro) c.68A>C (p.Gln23Pro) | gnomAD v4 |
X | g.47574691G>A | CA412824426 | SYN1 | c.1390C>T (p.Gln464Ter) c.67C>T (p.Gln23Ter) | dbSNP gnomAD v4 |
X | g.47574691G>C | CA412824427 | SYN1 | c.1390C>G (p.Gln464Glu) c.67C>G (p.Gln23Glu) | |
X | g.47574691G= | CA2427971383 | SYN1 | c.1390C= (p.Gln464=) c.67C= (p.Gln23=) | |
X | g.47574691G>T | CA412824430 | SYN1 | c.1390C>A (p.Gln464Lys) c.67C>A (p.Gln23Lys) | |
X | g.47574692T>A | CA515991209 | SYN1 | c.1389A>T (p.Pro463=) c.66A>T (p.Pro22=) | |
X | g.47574692T>C | CA515991210 | SYN1 | c.1389A>G (p.Pro463=) c.66A>G (p.Pro22=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.47574692T>G | CA515991211 | SYN1 | c.1389A>C (p.Pro463=) c.66A>C (p.Pro22=) | ClinVar dbSNP |
X | g.47574692T= | CA2427971384 | SYN1 | c.1389A= (p.Pro463=) c.66A= (p.Pro22=) | |
X | g.47574693G>A | CA412824435 | SYN1 | c.1388C>T (p.Pro463Leu) c.65C>T (p.Pro22Leu) | dbSNP gnomAD v2 gnomAD v4 |
X | g.47574693G>C | CA412824432 | SYN1 | c.1388C>G (p.Pro463Arg) c.65C>G (p.Pro22Arg) | gnomAD v4 |
X | g.47574693G= | CA2427971385 | SYN1 | c.1388C= (p.Pro463=) c.65C= (p.Pro22=) | |
X | g.47574693G>T | CA412824433 | SYN1 | c.1388C>A (p.Pro463Gln) c.65C>A (p.Pro22Gln) | gnomAD v4 |
X | g.47574694G>A | CA412824440 | SYN1 | c.1387C>T (p.Pro463Ser) c.64C>T (p.Pro22Ser) | gnomAD v4 |
X | g.47574694G>C | CA412824443 | SYN1 | c.1387C>G (p.Pro463Ala) c.64C>G (p.Pro22Ala) | |
X | g.47574694G>T | CA412824445 | SYN1 | c.1387C>A (p.Pro463Thr) c.64C>A (p.Pro22Thr) | gnomAD v4 |
X | g.47574695T>A | CA515991215 | SYN1 | c.1386A>T (p.Pro462=) c.63A>T (p.Pro21=) | |
X | g.47574695T>C | CA515991214 | SYN1 | c.1386A>G (p.Pro462=) c.63A>G (p.Pro21=) | |
X | g.47574695T>G | CA515991213 | SYN1 | c.1386A>C (p.Pro462=) c.63A>C (p.Pro21=) | |
X | g.47574696G>A | CA412824447 | SYN1 | c.1385C>T (p.Pro462Leu) c.62C>T (p.Pro21Leu) | |
X | g.47574696G>C | CA412824450 | SYN1 | c.1385C>G (p.Pro462Arg) c.62C>G (p.Pro21Arg) | |
X | g.47574696G>T | CA412824453 | SYN1 | c.1385C>A (p.Pro462Gln) c.62C>A (p.Pro21Gln) | gnomAD v4 |
X | g.47574700dup | CA2573158863 | SYN1 | c.1385dup (p.Pro463ThrfsTer?) c.62dup (p.Pro22ThrfsTer12) | ClinVar dbSNP |
X | g.47574697G>A | CA412824456 | SYN1 | c.1384C>T (p.Pro462Ser) c.61C>T (p.Pro21Ser) | dbSNP gnomAD v3 gnomAD v4 |
X | g.47574697G>C | CA412824459 | SYN1 | c.1384C>G (p.Pro462Ala) c.61C>G (p.Pro21Ala) | |
X | g.47574697G= | CA2427971386 | SYN1 | c.1384C= (p.Pro462=) c.61C= (p.Pro21=) | |
X | g.47574697G>T | CA412824463 | SYN1 | c.1384C>A (p.Pro462Thr) c.61C>A (p.Pro21Thr) | gnomAD v4 |
X | g.47574698G>A | CA515991220 | SYN1 | c.1383C>T (p.Pro461=) c.60C>T (p.Pro20=) | |
X | g.47574698G>C | CA515991221 | SYN1 | c.1383C>G (p.Pro461=) c.60C>G (p.Pro20=) | |
X | g.47574698G>T | CA515991223 | SYN1 | c.1383C>A (p.Pro461=) c.60C>A (p.Pro20=) | ClinVar gnomAD v4 |
X | g.47574699G>A | CA412824466 | SYN1 | c.1382C>T (p.Pro461Leu) c.59C>T (p.Pro20Leu) | gnomAD v4 |
X | g.47574699G>C | CA412824469 | SYN1 | c.1382C>G (p.Pro461Arg) c.59C>G (p.Pro20Arg) | |
X | g.47574699G>T | CA412824472 | SYN1 | c.1382C>A (p.Pro461His) c.59C>A (p.Pro20His) | gnomAD v4 |
X | g.47574700G>A | CA412824476 | SYN1 | c.1381C>T (p.Pro461Ser) c.58C>T (p.Pro20Ser) | gnomAD v4 |
X | g.47574700G>C | CA412824478 | SYN1 | c.1381C>G (p.Pro461Ala) c.58C>G (p.Pro20Ala) | |
X | g.47574700G>T | CA412824473 | SYN1 | c.1381C>A (p.Pro461Thr) c.58C>A (p.Pro20Thr) | gnomAD v4 |
X | g.47574701T>A | CA515991226 | SYN1 | c.1380A>T (p.Arg460=) c.57A>T (p.Arg19=) | ClinVar dbSNP |
X | g.47574701T>C | CA515991224 | SYN1 | c.1380A>G (p.Arg460=) c.57A>G (p.Arg19=) | |
X | g.47574701T>G | CA515991225 | SYN1 | c.1380A>C (p.Arg460=) c.57A>C (p.Arg19=) | |
X | g.47574702C>A | CA412824482 | SYN1 | c.1379G>T (p.Arg460Leu) c.56G>T (p.Arg19Leu) | gnomAD v4 |
X | g.47574702C= | CA2427971387 | SYN1 | c.1379G= (p.Arg460=) c.56G= (p.Arg19=) | |
X | g.47574702C>G | CA412824483 | SYN1 | c.1379G>C (p.Arg460Pro) c.56G>C (p.Arg19Pro) | |
X | g.47574702C>T | CA412824486 | SYN1 | c.1379G>A (p.Arg460Gln) c.56G>A (p.Arg19Gln) | dbSNP gnomAD v2 gnomAD v4 |
X | g.47574703G>A | CA412824487 | SYN1 | c.1378C>T (p.Arg460Ter) c.55C>T (p.Arg19Ter) | gnomAD v4 |
X | g.47574703G>C | CA412824491 | SYN1 | c.1378C>G (p.Arg460Gly) c.55C>G (p.Arg19Gly) | |
X | g.47574703G>T | CA515991228 | SYN1 | c.1378C>A (p.Arg460=) c.55C>A (p.Arg19=) | |
X | g.47574704C>A | CA412824495 | SYN1 | c.1377G>T (p.Gln459His) c.54G>T (p.Gln18His) | gnomAD v4 |
X | g.47574704C>G | CA412824498 | SYN1 | c.1377G>C (p.Gln459His) c.54G>C (p.Gln18His) | |
X | g.47574704C>T | CA515991230 | SYN1 | c.1377G>A (p.Gln459=) c.54G>A (p.Gln18=) | gnomAD v4 |
X | g.47574705T>A | CA412824504 | SYN1 | c.1376A>T (p.Gln459Leu) c.53A>T (p.Gln18Leu) | |
X | g.47574705T>C | CA412824500 | SYN1 | c.1376A>G (p.Gln459Arg) c.53A>G (p.Gln18Arg) | |
X | g.47574705T>G | CA412824503 | SYN1 | c.1376A>C (p.Gln459Pro) c.53A>C (p.Gln18Pro) | |
X | g.47574706G>A | CA412824506 | SYN1 | c.1375C>T (p.Gln459Ter) c.52C>T (p.Gln18Ter) | gnomAD v4 |
X | g.47574706G>C | CA412824508 | SYN1 | c.1375C>G (p.Gln459Glu) c.52C>G (p.Gln18Glu) | |
X | g.47574706G>T | CA412824510 | SYN1 | c.1375C>A (p.Gln459Lys) c.52C>A (p.Gln18Lys) | gnomAD v4 |
X | g.47574707C>A | CA412824516 | SYN1 | c.1374G>T (p.Gln458His) c.51G>T (p.Gln17His) | gnomAD v4 |
X | g.47574707C= | CA2427971388 | SYN1 | c.1374G= (p.Gln458=) c.51G= (p.Gln17=) | |
X | g.47574707C>G | CA412824518 | SYN1 | c.1374G>C (p.Gln458His) c.51G>C (p.Gln17His) | |
X | g.47574707C>T | CA329057467 | SYN1 | c.1374G>A (p.Gln458=) c.51G>A (p.Gln17=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.47574708T>A | CA412824519 | SYN1 | c.1373A>T (p.Gln458Leu) c.50A>T (p.Gln17Leu) | |
X | g.47574708T>C | CA412824521 | SYN1 | c.1373A>G (p.Gln458Arg) c.50A>G (p.Gln17Arg) | gnomAD v4 |
X | g.47574708T>G | CA412824520 | SYN1 | c.1373A>C (p.Gln458Pro) c.50A>C (p.Gln17Pro) | |
X | g.47574709G>A | CA412824523 | SYN1 | c.1372C>T (p.Gln458Ter) c.49C>T (p.Gln17Ter) | gnomAD v4 |
X | g.47574709G>C | CA318955 | SYN1 | c.1372C>G (p.Gln458Glu) c.49C>G (p.Gln17Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.47574709G= | CA2427971389 | SYN1 | c.1372C= (p.Gln458=) c.49C= (p.Gln17=) | |
X | g.47574709G>T | CA412824528 | SYN1 | c.1372C>A (p.Gln458Lys) c.49C>A (p.Gln17Lys) | |
X | g.47574710A>C | CA515991240 | SYN1 | c.1371T>G (p.Ala457=) c.48T>G (p.Ala16=) | |
X | g.47574710A>G | CA515991241 | SYN1 | c.1371T>C (p.Ala457=) c.48T>C (p.Ala16=) | ClinVar |
X | g.47574710A>T | CA515991242 | SYN1 | c.1371T>A (p.Ala457=) c.48T>A (p.Ala16=) | |
X | g.47574711G>A | CA412824531 | SYN1 | c.1370C>T (p.Ala457Val) c.47C>T (p.Ala16Val) | gnomAD v4 |
X | g.47574711G>C | CA412824533 | SYN1 | c.1370C>G (p.Ala457Gly) c.47C>G (p.Ala16Gly) | |
X | g.47574711G= | CA2427971390 | SYN1 | c.1370C= (p.Ala457=) c.47C= (p.Ala16=) | |
X | g.47574711G>T | CA10398360 | SYN1 | c.1370C>A (p.Ala457Asp) c.47C>A (p.Ala16Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.47574712C>A | CA412824540 | SYN1 | c.1369G>T (p.Ala457Ser) c.46G>T (p.Ala16Ser) | gnomAD v4 |
X | g.47574712C= | CA2427971391 | SYN1 | c.1369G= (p.Ala457=) c.46G= (p.Ala16=) | |
X | g.47574712C>G | CA10398361 | SYN1 | c.1369G>C (p.Ala457Pro) c.46G>C (p.Ala16Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.47574712C>T | CA412824546 | SYN1 | c.1369G>A (p.Ala457Thr) c.46G>A (p.Ala16Thr) | gnomAD v4 |
X | g.47574713C>A | CA515991247 | SYN1 | c.1368G>T (p.Pro456=) c.45G>T (p.Pro15=) | |
X | g.47574713C>G | CA515991248 | SYN1 | c.1368G>C (p.Pro456=) c.45G>C (p.Pro15=) | |
X | g.47574713C>T | CA515991249 | SYN1 | c.1368G>A (p.Pro456=) c.45G>A (p.Pro15=) | gnomAD v4 COSMIC COSMIC |
X | g.47574713_47574714delinsCG | CA2427971392 | SYN1 | c.1367_1368delinsCG (p.Pro456=) c.44_45delinsCG (p.Pro15=) | |
X | g.47574714G>A | CA10398362 | SYN1 | c.1367C>T (p.Pro456Leu) c.44C>T (p.Pro15Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.47574714G>C | CA412824550 | SYN1 | c.1367C>G (p.Pro456Arg) c.44C>G (p.Pro15Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.47574714G= | CA2427971393 | SYN1 | c.1367C= (p.Pro456=) c.44C= (p.Pro15=) | |
X | g.47574714G>T | CA412824554 | SYN1 | c.1367C>A (p.Pro456Gln) c.44C>A (p.Pro15Gln) | gnomAD v4 |
X | g.47574718dup | CA2820775730 | SYN1 | c.1367dup (p.Ala457GlyfsTer?) c.44dup (p.Ala16GlyfsTer18) | |
X | g.47574718del | CA641900907 | SYN1 | c.1367del (p.Pro456ArgfsTer?) c.44del (p.Pro15ArgfsTer23) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
X | g.47574715G>A | CA412824565 | SYN1 | c.1366C>T (p.Pro456Ser) c.43C>T (p.Pro15Ser) | |
X | g.47574715G>C | CA412824556 | SYN1 | c.1366C>G (p.Pro456Ala) c.43C>G (p.Pro15Ala) | gnomAD v4 COSMIC COSMIC |
X | g.47574715G>T | CA412824559 | SYN1 | c.1366C>A (p.Pro456Thr) c.43C>A (p.Pro15Thr) | |
X | g.47574716G>A | CA515991253 | SYN1 | c.1365C>T (p.Pro455=) c.42C>T (p.Pro14=) | gnomAD v4 |
X | g.47574716G>C | CA515991254 | SYN1 | c.1365C>G (p.Pro455=) c.42C>G (p.Pro14=) | gnomAD v4 |
X | g.47574716G>T | CA515991255 | SYN1 | c.1365C>A (p.Pro455=) c.42C>A (p.Pro14=) | gnomAD v4 |
X | g.47574717G>A | CA412824570 | SYN1 | c.1364C>T (p.Pro455Leu) c.41C>T (p.Pro14Leu) | gnomAD v4 |
X | g.47574717G>C | CA412824571 | SYN1 | c.1364C>G (p.Pro455Arg) c.41C>G (p.Pro14Arg) | |
X | g.47574717G>T | CA412824573 | SYN1 | c.1364C>A (p.Pro455His) c.41C>A (p.Pro14His) | |
X | g.47574718G>A | CA412824577 | SYN1 | c.1363C>T (p.Pro455Ser) c.40C>T (p.Pro14Ser) | ClinVar dbSNP |
X | g.47574718G>C | CA412824579 | SYN1 | c.1363C>G (p.Pro455Ala) c.40C>G (p.Pro14Ala) | |
X | g.47574718G= | CA2427971394 | SYN1 | c.1363C= (p.Pro455=) c.40C= (p.Pro14=) | |
X | g.47574718G>T | CA412824582 | SYN1 | c.1363C>A (p.Pro455Thr) c.40C>A (p.Pro14Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.47574719C>A | CA515991257 | SYN1 | c.1362G>T (p.Gly454=) c.39G>T (p.Gly13=) | gnomAD v4 |
X | g.47574719C= | CA2427971395 | SYN1 | c.1362G= (p.Gly454=) c.39G= (p.Gly13=) | |
X | g.47574719C>G | CA515991258 | SYN1 | c.1362G>C (p.Gly454=) c.39G>C (p.Gly13=) | |
X | g.47574719C>T | CA10398363 | SYN1 | c.1362G>A (p.Gly454=) c.39G>A (p.Gly13=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.47574720C>A | CA412824586 | SYN1 | c.1361G>T (p.Gly454Val) c.38G>T (p.Gly13Val) | gnomAD v4 |
X | g.47574720C>G | CA412824588 | SYN1 | c.1361G>C (p.Gly454Ala) c.38G>C (p.Gly13Ala) | |
X | g.47574720C>T | CA412824590 | SYN1 | c.1361G>A (p.Gly454Glu) c.38G>A (p.Gly13Glu) | |
X | g.47574721C>A | CA412824592 | SYN1 | c.1360G>T (p.Gly454Trp) c.37G>T (p.Gly13Trp) | gnomAD v4 |
X | g.47574721C>G | CA412824595 | SYN1 | c.1360G>C (p.Gly454Arg) c.37G>C (p.Gly13Arg) | |
X | g.47574721C>T | CA412824600 | SYN1 | c.1360G>A (p.Gly454Arg) c.37G>A (p.Gly13Arg) | gnomAD v4 |
X | g.47574722T>A | CA515991260 | SYN1 | c.1359A>T (p.Ala453=) c.36A>T (p.Ala12=) | gnomAD v4 |
X | g.47574722T>C | CA515991261 | SYN1 | c.1359A>G (p.Ala453=) c.36A>G (p.Ala12=) | gnomAD v4 |
X | g.47574722T>G | CA515991262 | SYN1 | c.1359A>C (p.Ala453=) c.36A>C (p.Ala12=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.47574722T= | CA2427971396 | SYN1 | c.1359A= (p.Ala453=) c.36A= (p.Ala12=) | |
X | g.47574723G>A | CA412824605 | SYN1 | c.1358C>T (p.Ala453Val) c.35C>T (p.Ala12Val) | |
X | g.47574723G>C | CA412824603 | SYN1 | c.1358C>G (p.Ala453Gly) c.35C>G (p.Ala12Gly) | |
X | g.47574723G>T | CA412824604 | SYN1 | c.1358C>A (p.Ala453Glu) c.35C>A (p.Ala12Glu) | gnomAD v4 |
X | g.47574724C>A | CA412824606 | SYN1 | c.1357G>T (p.Ala453Ser) c.34G>T (p.Ala12Ser) | dbSNP gnomAD v4 |
X | g.47574724C= | CA2427971397 | SYN1 | c.1357G= (p.Ala453=) c.34G= (p.Ala12=) | |
X | g.47574724C>G | CA412824607 | SYN1 | c.1357G>C (p.Ala453Pro) c.34G>C (p.Ala12Pro) | dbSNP gnomAD v2 gnomAD v4 |
X | g.47574724C>T | CA412824608 | SYN1 | c.1357G>A (p.Ala453Thr) c.34G>A (p.Ala12Thr) | dbSNP gnomAD v2 gnomAD v4 |
X | g.47574725G>A | CA10398364 | SYN1 | c.1356C>T (p.Pro452=) c.33C>T (p.Pro11=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.47574725G>C | CA515991268 | SYN1 | c.1356C>G (p.Pro452=) c.33C>G (p.Pro11=) | |
X | g.47574725G= | CA2427971398 | SYN1 | c.1356C= (p.Pro452=) c.33C= (p.Pro11=) | |
X | g.47574725G>T | CA515991269 | SYN1 | c.1356C>A (p.Pro452=) c.33C>A (p.Pro11=) | gnomAD v4 |
X | g.47574726G>A | CA412824609 | SYN1 | c.1355C>T (p.Pro452Leu) c.32C>T (p.Pro11Leu) | ClinVar dbSNP |
X | g.47574726G>C | CA412824611 | SYN1 | c.1355C>G (p.Pro452Arg) c.32C>G (p.Pro11Arg) | |
X | g.47574726G>T | CA412824614 | SYN1 | c.1355C>A (p.Pro452His) c.32C>A (p.Pro11His) | gnomAD v4 |
X | g.47574727G>A | CA412824616 | SYN1 | c.1354C>T (p.Pro452Ser) c.31C>T (p.Pro11Ser) | ClinVar dbSNP gnomAD v4 |
X | g.47574727G>C | CA412824617 | SYN1 | c.1354C>G (p.Pro452Ala) c.31C>G (p.Pro11Ala) | |
X | g.47574727G>T | CA412824620 | SYN1 | c.1354C>A (p.Pro452Thr) c.31C>A (p.Pro11Thr) | gnomAD v4 |
X | g.47574728C>A | CA412824624 | SYN1 | c.1353G>T (p.Gln451His) c.30G>T (p.Gln10His) | gnomAD v4 |
X | g.47574728C>G | CA412824626 | SYN1 | c.1353G>C (p.Gln451His) c.30G>C (p.Gln10His) | |
X | g.47574728C>T | CA515991274 | SYN1 | c.1353G>A (p.Gln451=) c.30G>A (p.Gln10=) | gnomAD v4 |
X | g.47574729T>A | CA412824630 | SYN1 | c.1352A>T (p.Gln451Leu) c.29A>T (p.Gln10Leu) | |
X | g.47574729T>C | CA412824634 | SYN1 | c.1352A>G (p.Gln451Arg) c.29A>G (p.Gln10Arg) | |
X | g.47574729T>G | CA412824632 | SYN1 | c.1352A>C (p.Gln451Pro) c.29A>C (p.Gln10Pro) | |
X | g.47574730G>A | CA412824637 | SYN1 | c.1351C>T (p.Gln451Ter) c.28C>T (p.Gln10Ter) | gnomAD v4 |
X | g.47574730G>C | CA412824644 | SYN1 | c.1351C>G (p.Gln451Glu) c.28C>G (p.Gln10Glu) | |
X | g.47574730G>T | CA412824641 | SYN1 | c.1351C>A (p.Gln451Lys) c.28C>A (p.Gln10Lys) | gnomAD v4 |
X | g.47574731C>A | CA412824647 | SYN1 | c.1350G>T (p.Gln450His) c.27G>T (p.Gln9His) | |
X | g.47574731C>G | CA412824649 | SYN1 | c.1350G>C (p.Gln450His) c.27G>C (p.Gln9His) | |
X | g.47574731C>T | CA515991278 | SYN1 | c.1350G>A (p.Gln450=) c.27G>A (p.Gln9=) | gnomAD v4 |
X | g.47574732T>A | CA412824652 | SYN1 | c.1349A>T (p.Gln450Leu) c.26A>T (p.Gln9Leu) | |
X | g.47574732T>C | CA412824655 | SYN1 | c.1349A>G (p.Gln450Arg) c.26A>G (p.Gln9Arg) | gnomAD v4 |
X | g.47574732T>G | CA412824658 | SYN1 | c.1349A>C (p.Gln450Pro) c.26A>C (p.Gln9Pro) | |
X | g.47574733G>A | CA412824662 | SYN1 | c.1348C>T (p.Gln450Ter) c.25C>T (p.Gln9Ter) | |
X | g.47574733G>C | CA412824666 | SYN1 | c.1348C>G (p.Gln450Glu) c.25C>G (p.Gln9Glu) | gnomAD v4 |
X | g.47574733G>T | CA412824668 | SYN1 | c.1348C>A (p.Gln450Lys) c.25C>A (p.Gln9Lys) | gnomAD v4 |
X | g.47574734G>A | CA515991284 | SYN1 | c.1347C>T (p.Ser449=) c.24C>T (p.Ser8=) | gnomAD v4 |
X | g.47574734G>C | CA515991285 | SYN1 | c.1347C>G (p.Ser449=) c.24C>G (p.Ser8=) | |
X | g.47574734G>T | CA515991286 | SYN1 | c.1347C>A (p.Ser449=) c.24C>A (p.Ser8=) | |
X | g.47574735G>A | CA412824670 | SYN1 | c.1346C>T (p.Ser449Phe) c.23C>T (p.Ser8Phe) | |
X | g.47574735G>C | CA412824672 | SYN1 | c.1346C>G (p.Ser449Cys) c.23C>G (p.Ser8Cys) | |
X | g.47574735G>T | CA412824675 | SYN1 | c.1346C>A (p.Ser449Tyr) c.23C>A (p.Ser8Tyr) | gnomAD v4 |
X | g.47574736A= | CA2427971399 | SYN1 | c.1345T= (p.Ser449=) c.22T= (p.Ser8=) | |
X | g.47574736A>C | CA412824688 | SYN1 | c.1345T>G (p.Ser449Ala) c.22T>G (p.Ser8Ala) | |
X | g.47574736A>G | CA412824682 | SYN1 | c.1345T>C (p.Ser449Pro) c.22T>C (p.Ser8Pro) | |
X | g.47574736A>T | CA318952 | SYN1 | c.1345T>A (p.Ser449Thr) c.22T>A (p.Ser8Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.47574737G>A | CA515991287 | SYN1 | c.1344C>T (p.Thr448=) c.21C>T (p.Thr7=) | gnomAD v4 |
X | g.47574737G>C | CA515991288 | SYN1 | c.1344C>G (p.Thr448=) c.21C>G (p.Thr7=) | |
X | g.47574737G>T | CA515991289 | SYN1 | c.1344C>A (p.Thr448=) c.21C>A (p.Thr7=) | gnomAD v4 |
X | g.47574738G>A | CA412824690 | SYN1 | c.1343C>T (p.Thr448Ile) c.20C>T (p.Thr7Ile) | gnomAD v4 |
X | g.47574738G>C | CA412824693 | SYN1 | c.1343C>G (p.Thr448Ser) c.20C>G (p.Thr7Ser) | |
X | g.47574738G>T | CA412824696 | SYN1 | c.1343C>A (p.Thr448Asn) c.20C>A (p.Thr7Asn) | gnomAD v4 |
X | g.47574739T>A | CA10398365 | SYN1 | c.1342A>T (p.Thr448Ser) c.19A>T (p.Thr7Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.47574739T>C | CA412824701 | SYN1 | c.1342A>G (p.Thr448Ala) c.19A>G (p.Thr7Ala) | gnomAD v4 |
X | g.47574739T>G | CA412824705 | SYN1 | c.1342A>C (p.Thr448Pro) c.19A>C (p.Thr7Pro) | |
X | g.47574739T= | CA2427971400 | SYN1 | c.1342A= (p.Thr448=) c.19A= (p.Thr7=) | |
X | g.47574740C>A | CA412824709 | SYN1 | c.1341G>T (p.Gln447His) c.18G>T (p.Gln6His) | gnomAD v4 |
X | g.47574740C>G | CA412824714 | SYN1 | c.1341G>C (p.Gln447His) c.18G>C (p.Gln6His) | |
X | g.47574740C>T | CA515991292 | SYN1 | c.1341G>A (p.Gln447=) c.18G>A (p.Gln6=) | gnomAD v4 |
X | g.47574741T>A | CA412824718 | SYN1 | c.1340A>T (p.Gln447Leu) c.17A>T (p.Gln6Leu) | |
X | g.47574741T>C | CA412824721 | SYN1 | c.1340A>G (p.Gln447Arg) c.17A>G (p.Gln6Arg) | gnomAD v4 |
X | g.47574741T>G | CA412824724 | SYN1 | c.1340A>C (p.Gln447Pro) c.17A>C (p.Gln6Pro) | |
X | g.47574742G>A | CA412824738 | SYN1 | c.1339C>T (p.Gln447Ter) c.16C>T (p.Gln6Ter) | |
X | g.47574742G>C | CA412824733 | SYN1 | c.1339C>G (p.Gln447Glu) c.16C>G (p.Gln6Glu) | |
X | g.47574742G>T | CA412824730 | SYN1 | c.1339C>A (p.Gln447Lys) c.16C>A (p.Gln6Lys) | gnomAD v4 |