| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.47574443_47574472del | CA2820775726 | SYN1 | c.1520_1549del (p.Arg507_Gln516del) c.70+224_70+253del (n.70+224_70+253del) | |
| X | g.47574445T>A | CA516354030 | SYN1 | c.1539A>T (p.Ser513=) c.70+243A>T (n.70+243A>T) | |
| X | g.47574445T>C | CA516354031 | SYN1 | c.1539A>G (p.Ser513=) c.70+243A>G (n.70+243A>G) | gnomAD v4 |
| X | g.47574445T>G | CA516354032 | SYN1 | c.1539A>C (p.Ser513=) c.70+243A>C (n.70+243A>C) | |
| X | g.47574446G>A | CA412823430 | SYN1 | c.1538C>T (p.Ser513Leu) c.70+242C>T (n.70+242C>T) | ClinVar gnomAD v4 |
| X | g.47574446G>C | CA412823432 | SYN1 | c.1538C>G (p.Ser513Ter) c.70+242C>G (n.70+242C>G) | |
| X | g.47574446G>T | CA412823433 | SYN1 | c.1538C>A (p.Ser513Ter) c.70+242C>A (n.70+242C>A) | |
| X | g.47574447A>C | CA412823435 | SYN1 | c.1537T>G (p.Ser513Ala) c.70+241T>G (n.70+241T>G) | |
| X | g.47574447A>G | CA412823438 | SYN1 | c.1537T>C (p.Ser513Pro) c.70+241T>C (n.70+241T>C) | |
| X | g.47574447A>T | CA412823439 | SYN1 | c.1537T>A (p.Ser513Thr) c.70+241T>A (n.70+241T>A) | gnomAD v4 |
| X | g.47574448G>A | CA516354036 | SYN1 | c.1536C>T (p.Thr512=) c.70+240C>T (n.70+240C>T) | |
| X | g.47574448G>C | CA516354037 | SYN1 | c.1536C>G (p.Thr512=) c.70+240C>G (n.70+240C>G) | |
| X | g.47574448G>T | CA516354038 | SYN1 | c.1536C>A (p.Thr512=) c.70+240C>A (n.70+240C>A) | gnomAD v4 |
| X | g.47574449G>A | CA412823441 | SYN1 | c.1535C>T (p.Thr512Ile) c.70+239C>T (n.70+239C>T) | gnomAD v4 |
| X | g.47574449G>C | CA412823444 | SYN1 | c.1535C>G (p.Thr512Ser) c.70+239C>G (n.70+239C>G) | |
| X | g.47574449G>T | CA412823442 | SYN1 | c.1535C>A (p.Thr512Asn) c.70+239C>A (n.70+239C>A) | gnomAD v4 |
| X | g.47574450T>A | CA412823447 | SYN1 | c.1534A>T (p.Thr512Ser) c.70+238A>T (n.70+238A>T) | |
| X | g.47574450T>C | CA412823448 | SYN1 | c.1534A>G (p.Thr512Ala) c.70+238A>G (n.70+238A>G) | gnomAD v4 |
| X | g.47574450T>G | CA412823451 | SYN1 | c.1534A>C (p.Thr512Pro) c.70+238A>C (n.70+238A>C) | |
| X | g.47574451G>A | CA516354041 | SYN1 | c.1533C>T (p.Pro511=) c.70+237C>T (n.70+237C>T) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.47574451G>C | CA516354042 | SYN1 | c.1533C>G (p.Pro511=) c.70+237C>G (n.70+237C>G) | |
| X | g.47574451G= | CA2427971303 | SYN1 | c.1533C= (p.Pro511=) c.70+237C= (n.70+237C=) | |
| X | g.47574451G>T | CA516354043 | SYN1 | c.1533C>A (p.Pro511=) c.70+237C>A (n.70+237C>A) | gnomAD v4 |
| X | g.47574453del | CA2693585222 | SYN1 | c.1533del (p.Thr512ProfsTer?) c.70+237del (n.70+237del) | gnomAD v4 |
| X | g.47574452G>A | CA412823456 | SYN1 | c.1532C>T (p.Pro511Leu) c.70+236C>T (n.70+236C>T) | gnomAD v4 |
| X | g.47574452G>C | CA412823458 | SYN1 | c.1532C>G (p.Pro511Arg) c.70+236C>G (n.70+236C>G) | |
| X | g.47574452G>T | CA412823461 | SYN1 | c.1532C>A (p.Pro511His) c.70+236C>A (n.70+236C>A) | gnomAD v4 |
| X | g.47574453G>A | CA329057340 | SYN1 | c.1531C>T (p.Pro511Ser) c.70+235C>T (n.70+235C>T) | dbSNP gnomAD v4 |
| X | g.47574453G>C | CA412823465 | SYN1 | c.1531C>G (p.Pro511Ala) c.70+235C>G (n.70+235C>G) | |
| X | g.47574453G= | CA2427971304 | SYN1 | c.1531C= (p.Pro511=) c.70+235C= (n.70+235C=) | |
| X | g.47574453G>T | CA412823470 | SYN1 | c.1531C>A (p.Pro511Thr) c.70+235C>A (n.70+235C>A) | gnomAD v4 |
| X | g.47574454A>C | CA412823472 | SYN1 | c.1530T>G (p.Ser510Arg) c.70+234T>G (n.70+234T>G) | |
| X | g.47574454A>G | CA516354045 | SYN1 | c.1530T>C (p.Ser510=) c.70+234T>C (n.70+234T>C) | |
| X | g.47574454A>T | CA412823475 | SYN1 | c.1530T>A (p.Ser510Arg) c.70+234T>A (n.70+234T>A) | |
| X | g.47574455C>A | CA412823477 | SYN1 | c.1529G>T (p.Ser510Ile) c.70+233G>T (n.70+233G>T) | gnomAD v4 |
| X | g.47574455C>G | CA412823483 | SYN1 | c.1529G>C (p.Ser510Thr) c.70+233G>C (n.70+233G>C) | |
| X | g.47574455C>T | CA412823478 | SYN1 | c.1529G>A (p.Ser510Asn) c.70+233G>A (n.70+233G>A) | |
| X | g.47574456T>A | CA412823485 | SYN1 | c.1528A>T (p.Ser510Cys) c.70+232A>T (n.70+232A>T) | |
| X | g.47574456T>C | CA412823486 | SYN1 | c.1528A>G (p.Ser510Gly) c.70+232A>G (n.70+232A>G) | gnomAD v4 |
| X | g.47574456T>G | CA412823489 | SYN1 | c.1528A>C (p.Ser510Arg) c.70+232A>C (n.70+232A>C) | |
| X | g.47574457T>A | CA516354050 | SYN1 | c.1527A>T (p.Pro509=) c.70+231A>T (n.70+231A>T) | |
| X | g.47574457T>C | CA516354049 | SYN1 | c.1527A>G (p.Pro509=) c.70+231A>G (n.70+231A>G) | gnomAD v4 |
| X | g.47574457T>G | CA516354048 | SYN1 | c.1527A>C (p.Pro509=) c.70+231A>C (n.70+231A>C) | |
| X | g.47574458G>A | CA412823492 | SYN1 | c.1526C>T (p.Pro509Leu) c.70+230C>T (n.70+230C>T) | gnomAD v4 |
| X | g.47574458G>C | CA412823499 | SYN1 | c.1526C>G (p.Pro509Arg) c.70+230C>G (n.70+230C>G) | COSMIC COSMIC |
| X | g.47574458G>T | CA412823502 | SYN1 | c.1526C>A (p.Pro509Gln) c.70+230C>A (n.70+230C>A) | gnomAD v4 |
| X | g.47574459del | CA2693585223 | SYN1 | c.1526del (p.Pro509GlnfsTer?) c.70+230del (n.70+230del) | gnomAD v4 |
| X | g.47574459G>A | CA412823504 | SYN1 | c.1525C>T (p.Pro509Ser) c.70+229C>T (n.70+229C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.47574459G>C | CA412823507 | SYN1 | c.1525C>G (p.Pro509Ala) c.70+229C>G (n.70+229C>G) | gnomAD v4 |
| X | g.47574459G= | CA2427971305 | SYN1 | c.1525C= (p.Pro509=) c.70+229C= (n.70+229C=) | |
| X | g.47574459G>T | CA412823508 | SYN1 | c.1525C>A (p.Pro509Thr) c.70+229C>A (n.70+229C>A) | gnomAD v4 |
| X | g.47574460A>C | CA516354056 | SYN1 | c.1524T>G (p.Leu508=) c.70+228T>G (n.70+228T>G) | |
| X | g.47574460A>G | CA516354055 | SYN1 | c.1524T>C (p.Leu508=) c.70+228T>C (n.70+228T>C) | dbSNP gnomAD v4 |
| X | g.47574460A>T | CA516354054 | SYN1 | c.1524T>A (p.Leu508=) c.70+228T>A (n.70+228T>A) | gnomAD v4 |
| X | g.47574461del | CA2693585224 | SYN1 | c.1524del (p.Pro509GlnfsTer?) c.70+228del (n.70+228del) | gnomAD v4 |
| X | g.47574461A>C | CA412823511 | SYN1 | c.1523T>G (p.Leu508Arg) c.70+227T>G (n.70+227T>G) | |
| X | g.47574461A>G | CA412823512 | SYN1 | c.1523T>C (p.Leu508Pro) c.70+227T>C (n.70+227T>C) | gnomAD v4 |
| X | g.47574461A>T | CA412823514 | SYN1 | c.1523T>A (p.Leu508His) c.70+227T>A (n.70+227T>A) | gnomAD v4 |
| X | g.47574462G>A | CA412823520 | SYN1 | c.1522C>T (p.Leu508Phe) c.70+226C>T (n.70+226C>T) | |
| X | g.47574462G>C | CA412823517 | SYN1 | c.1522C>G (p.Leu508Val) c.70+226C>G (n.70+226C>G) | |
| X | g.47574462G>T | CA412823519 | SYN1 | c.1522C>A (p.Leu508Ile) c.70+226C>A (n.70+226C>A) | gnomAD v4 |
| X | g.47574472_47574564del | CA2693585225 | SYN1 | c.1430_1522del (p.Gln477_Arg507del) c.70+134_70+226del (n.70+134_70+226del) | gnomAD v4 |
| X | g.47574463G>A | CA516354058 | SYN1 | c.1521C>T (p.Arg507=) c.70+225C>T (n.70+225C>T) | gnomAD v4 |
| X | g.47574463G>C | CA516354062 | SYN1 | c.1521C>G (p.Arg507=) c.70+225C>G (n.70+225C>G) | gnomAD v4 |
| X | g.47574463G>T | CA516354059 | SYN1 | c.1521C>A (p.Arg507=) c.70+225C>A (n.70+225C>A) | gnomAD v4 |
| X | g.47574464C>A | CA412823524 | SYN1 | c.1520G>T (p.Arg507Leu) c.70+224G>T (n.70+224G>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.47574464C= | CA2427971306 | SYN1 | c.1520G= (p.Arg507=) c.70+224G= (n.70+224G=) | |
| X | g.47574464C>G | CA412823525 | SYN1 | c.1520G>C (p.Arg507Pro) c.70+224G>C (n.70+224G>C) | |
| X | g.47574464C>T | CA412823528 | SYN1 | c.1520G>A (p.Arg507His) c.70+224G>A (n.70+224G>A) | gnomAD v4 |
| X | g.47574465G>A | CA412823530 | SYN1 | c.1519C>T (p.Arg507Cys) c.70+223C>T (n.70+223C>T) | gnomAD v4 |
| X | g.47574465G>C | CA412823531 | SYN1 | c.1519C>G (p.Arg507Gly) c.70+223C>G (n.70+223C>G) | |
| X | g.47574465G= | CA2427971307 | SYN1 | c.1519C= (p.Arg507=) c.70+223C= (n.70+223C=) | |
| X | g.47574465G>T | CA412823532 | SYN1 | c.1519C>A (p.Arg507Ser) c.70+223C>A (n.70+223C>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.47574466C>A | CA412823534 | SYN1 | c.1518G>T (p.Gln506His) c.70+222G>T (n.70+222G>T) | gnomAD v4 |
| X | g.47574466C>G | CA412823536 | SYN1 | c.1518G>C (p.Gln506His) c.70+222G>C (n.70+222G>C) | |
| X | g.47574466C>T | CA516354067 | SYN1 | c.1518G>A (p.Gln506=) c.70+222G>A (n.70+222G>A) | |
| X | g.47574467T>A | CA412823538 | SYN1 | c.1517A>T (p.Gln506Leu) c.70+221A>T (n.70+221A>T) | |
| X | g.47574467T>C | CA412823540 | SYN1 | c.1517A>G (p.Gln506Arg) c.70+221A>G (n.70+221A>G) | |
| X | g.47574467T>G | CA412823543 | SYN1 | c.1517A>C (p.Gln506Pro) c.70+221A>C (n.70+221A>C) | |
| X | g.47574468G>A | CA412823548 | SYN1 | c.1516C>T (p.Gln506Ter) c.70+220C>T (n.70+220C>T) | ClinVar dbSNP |
| X | g.47574468G>C | CA412823546 | SYN1 | c.1516C>G (p.Gln506Glu) c.70+220C>G (n.70+220C>G) | |
| X | g.47574468G= | CA2427971308 | SYN1 | c.1516C= (p.Gln506=) c.70+220C= (n.70+220C=) | |
| X | g.47574468G>T | CA412823544 | SYN1 | c.1516C>A (p.Gln506Lys) c.70+220C>A (n.70+220C>A) | gnomAD v4 |
| X | g.47574471del | CA2820775727 | SYN1 | c.1516del (p.Gln506SerfsTer?) c.70+220del (n.70+220del) | |
| X | g.47574470_47574471del | CA2579596681 | SYN1 | c.1515_1516del (p.Gln506AlafsTer?) c.70+219_70+220del (n.70+219_70+220del) | |
| X | g.47574469G>A | CA516354070 | SYN1 | c.1515C>T (p.Pro505=) c.70+219C>T (n.70+219C>T) | |
| X | g.47574469G>C | CA516354071 | SYN1 | c.1515C>G (p.Pro505=) c.70+219C>G (n.70+219C>G) | |
| X | g.47574469G>T | CA516354072 | SYN1 | c.1515C>A (p.Pro505=) c.70+219C>A (n.70+219C>A) | gnomAD v4 |
| X | g.47574470G>A | CA412823555 | SYN1 | c.1514C>T (p.Pro505Leu) c.70+218C>T (n.70+218C>T) | gnomAD v4 |
| X | g.47574470G>C | CA412823551 | SYN1 | c.1514C>G (p.Pro505Arg) c.70+218C>G (n.70+218C>G) | |
| X | g.47574470G>T | CA412823552 | SYN1 | c.1514C>A (p.Pro505His) c.70+218C>A (n.70+218C>A) | gnomAD v4 COSMIC COSMIC |
| X | g.47574471G>A | CA412823559 | SYN1 | c.1513C>T (p.Pro505Ser) c.70+217C>T (n.70+217C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.47574471G>C | CA412823560 | SYN1 | c.1513C>G (p.Pro505Ala) c.70+217C>G (n.70+217C>G) | |
| X | g.47574471G= | CA2427971309 | SYN1 | c.1513C= (p.Pro505=) c.70+217C= (n.70+217C=) | |
| X | g.47574471G>T | CA412823561 | SYN1 | c.1513C>A (p.Pro505Thr) c.70+217C>A (n.70+217C>A) | |
| X | g.47574472C>A | CA516354074 | SYN1 | c.1512G>T (p.Leu504=) c.70+216G>T (n.70+216G>T) | gnomAD v4 |
| X | g.47574472C>G | CA516354075 | SYN1 | c.1512G>C (p.Leu504=) c.70+216G>C (n.70+216G>C) | |
| X | g.47574472C>T | CA516354076 | SYN1 | c.1512G>A (p.Leu504=) c.70+216G>A (n.70+216G>A) | gnomAD v4 |
| X | g.47574473A>C | CA412823562 | SYN1 | c.1511T>G (p.Leu504Arg) c.70+215T>G (n.70+215T>G) | |
| X | g.47574473A>G | CA412823563 | SYN1 | c.1511T>C (p.Leu504Pro) c.70+215T>C (n.70+215T>C) | gnomAD v4 |
| X | g.47574473A>T | CA412823564 | SYN1 | c.1511T>A (p.Leu504Gln) c.70+215T>A (n.70+215T>A) | |
| X | g.47574473_47574474delinsAG | CA2427971310 | SYN1 | c.1510_1511delinsCT (p.Leu504=) c.70+214_70+215delinsCT (n.70+214_70+215delinsCT) | |
| X | g.47574474G>A | CA516354079 | SYN1 | c.1510C>T (p.Leu504=) c.70+214C>T (n.70+214C>T) | gnomAD v4 COSMIC COSMIC |
| X | g.47574474G>C | CA412823565 | SYN1 | c.1510C>G (p.Leu504Val) c.70+214C>G (n.70+214C>G) | |
| X | g.47574474G>T | CA412823566 | SYN1 | c.1510C>A (p.Leu504Met) c.70+214C>A (n.70+214C>A) | gnomAD v4 |
| X | g.47574478del | CA641900908 | SYN1 | c.1510del (p.Leu504CysfsTer?) c.70+214del (n.70+214del) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.47574475G>A | CA516354081 | SYN1 | c.1509C>T (p.Pro503=) c.70+213C>T (n.70+213C>T) | gnomAD v4 |
| X | g.47574475G>C | CA516354082 | SYN1 | c.1509C>G (p.Pro503=) c.70+213C>G (n.70+213C>G) | |
| X | g.47574475G>T | CA516354083 | SYN1 | c.1509C>A (p.Pro503=) c.70+213C>A (n.70+213C>A) | gnomAD v4 |
| X | g.47574476G>A | CA412823567 | SYN1 | c.1508C>T (p.Pro503Leu) c.70+212C>T (n.70+212C>T) | |
| X | g.47574476G>C | CA412823570 | SYN1 | c.1508C>G (p.Pro503Arg) c.70+212C>G (n.70+212C>G) | |
| X | g.47574476G>T | CA412823571 | SYN1 | c.1508C>A (p.Pro503His) c.70+212C>A (n.70+212C>A) | gnomAD v4 |
| X | g.47574477G>A | CA412823581 | SYN1 | c.1507C>T (p.Pro503Ser) c.70+211C>T (n.70+211C>T) | gnomAD v4 |
| X | g.47574477G>C | CA412823576 | SYN1 | c.1507C>G (p.Pro503Ala) c.70+211C>G (n.70+211C>G) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.47574477G>T | CA412823574 | SYN1 | c.1507C>A (p.Pro503Thr) c.70+211C>A (n.70+211C>A) | gnomAD v4 |
| X | g.47574478G>A | CA516354085 | SYN1 | c.1506C>T (p.Ser502=) c.70+210C>T (n.70+210C>T) | gnomAD v4 |
| X | g.47574478G>C | CA412823583 | SYN1 | c.1506C>G (p.Ser502Arg) c.70+210C>G (n.70+210C>G) | |
| X | g.47574478G>T | CA412823584 | SYN1 | c.1506C>A (p.Ser502Arg) c.70+210C>A (n.70+210C>A) | gnomAD v4 |
| X | g.47574479C>A | CA412823586 | SYN1 | c.1505G>T (p.Ser502Ile) c.70+209G>T (n.70+209G>T) | |
| X | g.47574479C>G | CA412823587 | SYN1 | c.1505G>C (p.Ser502Thr) c.70+209G>C (n.70+209G>C) | gnomAD v4 |
| X | g.47574479C>T | CA412823590 | SYN1 | c.1505G>A (p.Ser502Asn) c.70+209G>A (n.70+209G>A) | gnomAD v4 |
| X | g.47574480T>A | CA412823591 | SYN1 | c.1504A>T (p.Ser502Cys) c.70+208A>T (n.70+208A>T) | ClinVar gnomAD v4 |
| X | g.47574480T>C | CA412823594 | SYN1 | c.1504A>G (p.Ser502Gly) c.70+208A>G (n.70+208A>G) | |
| X | g.47574480T>G | CA412823595 | SYN1 | c.1504A>C (p.Ser502Arg) c.70+208A>C (n.70+208A>C) | |
| X | g.47574481G>A | CA515991032 | SYN1 | c.1503C>T (p.Gly501=) c.70+207C>T (n.70+207C>T) | gnomAD v4 |
| X | g.47574481G>C | CA515991035 | SYN1 | c.1503C>G (p.Gly501=) c.70+207C>G (n.70+207C>G) | |
| X | g.47574481G>T | CA515991034 | SYN1 | c.1503C>A (p.Gly501=) c.70+207C>A (n.70+207C>A) | gnomAD v4 |
| X | g.47574482C>A | CA412823597 | SYN1 | c.1502G>T (p.Gly501Val) c.70+206G>T (n.70+206G>T) | gnomAD v4 |
| X | g.47574482C>G | CA412823598 | SYN1 | c.1502G>C (p.Gly501Ala) c.70+206G>C (n.70+206G>C) | |
| X | g.47574482C>T | CA412823599 | SYN1 | c.1502G>A (p.Gly501Asp) c.70+206G>A (n.70+206G>A) | gnomAD v4 |
| X | g.47574483C>A | CA412823601 | SYN1 | c.1501G>T (p.Gly501Cys) c.70+205G>T (n.70+205G>T) | |
| X | g.47574483C>G | CA412823602 | SYN1 | c.1501G>C (p.Gly501Arg) c.70+205G>C (n.70+205G>C) | |
| X | g.47574483C>T | CA412823605 | SYN1 | c.1501G>A (p.Gly501Ser) c.70+205G>A (n.70+205G>A) | gnomAD v4 |
| X | g.47574484A>C | CA515991036 | SYN1 | c.1500T>G (p.Ala500=) c.70+204T>G (n.70+204T>G) | |
| X | g.47574484A>G | CA515991037 | SYN1 | c.1500T>C (p.Ala500=) c.70+204T>C (n.70+204T>C) | gnomAD v4 |
| X | g.47574484A>T | CA515991038 | SYN1 | c.1500T>A (p.Ala500=) c.70+204T>A (n.70+204T>A) | |
| X | g.47574485G>A | CA412823610 | SYN1 | c.1499C>T (p.Ala500Val) c.70+203C>T (n.70+203C>T) | dbSNP gnomAD v4 |
| X | g.47574485G>C | CA412823612 | SYN1 | c.1499C>G (p.Ala500Gly) c.70+203C>G (n.70+203C>G) | |
| X | g.47574485G= | CA2427971311 | SYN1 | c.1499C= (p.Ala500=) c.70+203C= (n.70+203C=) | |
| X | g.47574485G>T | CA412823608 | SYN1 | c.1499C>A (p.Ala500Asp) c.70+203C>A (n.70+203C>A) | gnomAD v4 |
| X | g.47574486C>A | CA412823613 | SYN1 | c.1498G>T (p.Ala500Ser) c.70+202G>T (n.70+202G>T) | gnomAD v4 |
| X | g.47574486C>G | CA412823615 | SYN1 | c.1498G>C (p.Ala500Pro) c.70+202G>C (n.70+202G>C) | gnomAD v4 |
| X | g.47574486C>T | CA412823617 | SYN1 | c.1498G>A (p.Ala500Thr) c.70+202G>A (n.70+202G>A) | |
| X | g.47574487T>A | CA515991040 | SYN1 | c.1497A>T (p.Pro499=) c.70+201A>T (n.70+201A>T) | gnomAD v4 |
| X | g.47574487T>C | CA515991041 | SYN1 | c.1497A>G (p.Pro499=) c.70+201A>G (n.70+201A>G) | gnomAD v4 |
| X | g.47574487T>G | CA515991042 | SYN1 | c.1497A>C (p.Pro499=) c.70+201A>C (n.70+201A>C) | |
| X | g.47574488G>A | CA412823619 | SYN1 | c.1496C>T (p.Pro499Leu) c.70+200C>T (n.70+200C>T) | |
| X | g.47574488G>C | CA412823622 | SYN1 | c.1496C>G (p.Pro499Arg) c.70+200C>G (n.70+200C>G) | |
| X | g.47574488G>T | CA412823625 | SYN1 | c.1496C>A (p.Pro499Gln) c.70+200C>A (n.70+200C>A) | gnomAD v4 |
| X | g.47574489G>A | CA412823628 | SYN1 | c.1495C>T (p.Pro499Ser) c.70+199C>T (n.70+199C>T) | |
| X | g.47574489G>C | CA412823630 | SYN1 | c.1495C>G (p.Pro499Ala) c.70+199C>G (n.70+199C>G) | |
| X | g.47574489G>T | CA412823632 | SYN1 | c.1495C>A (p.Pro499Thr) c.70+199C>A (n.70+199C>A) | gnomAD v4 |
| X | g.47574490G>A | CA515991044 | SYN1 | c.1494C>T (p.Pro498=) c.70+198C>T (n.70+198C>T) | gnomAD v4 |
| X | g.47574490G>C | CA329057349 | SYN1 | c.1494C>G (p.Pro498=) c.70+198C>G (n.70+198C>G) | dbSNP |
| X | g.47574490G= | CA2427971312 | SYN1 | c.1494C= (p.Pro498=) c.70+198C= (n.70+198C=) | |
| X | g.47574490G>T | CA515991043 | SYN1 | c.1494C>A (p.Pro498=) c.70+198C>A (n.70+198C>A) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.47574491G>A | CA412823634 | SYN1 | c.1493C>T (p.Pro498Leu) c.70+197C>T (n.70+197C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.47574491G>C | CA412823636 | SYN1 | c.1493C>G (p.Pro498Arg) c.70+197C>G (n.70+197C>G) | |
| X | g.47574491G= | CA2427971313 | SYN1 | c.1493C= (p.Pro498=) c.70+197C= (n.70+197C=) | |
| X | g.47574491G>T | CA412823638 | SYN1 | c.1493C>A (p.Pro498His) c.70+197C>A (n.70+197C>A) | gnomAD v4 |
| X | g.47574492G>A | CA412823646 | SYN1 | c.1492C>T (p.Pro498Ser) c.70+196C>T (n.70+196C>T) | gnomAD v4 |
| X | g.47574492G>C | CA412823641 | SYN1 | c.1492C>G (p.Pro498Ala) c.70+196C>G (n.70+196C>G) | |
| X | g.47574492G= | CA2427971314 | SYN1 | c.1492C= (p.Pro498=) c.70+196C= (n.70+196C=) | |
| X | g.47574492G>T | CA412823643 | SYN1 | c.1492C>A (p.Pro498Thr) c.70+196C>A (n.70+196C>A) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.47574493T>A | CA515991045 | SYN1 | c.1491A>T (p.Gly497=) c.70+195A>T (n.70+195A>T) | |
| X | g.47574493T>C | CA515991046 | SYN1 | c.1491A>G (p.Gly497=) c.70+195A>G (n.70+195A>G) | gnomAD v4 |
| X | g.47574493T>G | CA515991047 | SYN1 | c.1491A>C (p.Gly497=) c.70+195A>C (n.70+195A>C) | |
| X | g.47574494C>A | CA412823651 | SYN1 | c.1490G>T (p.Gly497Val) c.70+194G>T (n.70+194G>T) | gnomAD v4 |
| X | g.47574494C>G | CA412823653 | SYN1 | c.1490G>C (p.Gly497Ala) c.70+194G>C (n.70+194G>C) | |
| X | g.47574494C>T | CA412823658 | SYN1 | c.1490G>A (p.Gly497Glu) c.70+194G>A (n.70+194G>A) | ClinVar dbSNP gnomAD v4 |
| X | g.47574495del | CA2693585226 | SYN1 | c.1490del (p.Gly497AspfsTer?) c.70+194del (n.70+194del) | gnomAD v4 |
| X | g.47574495C>A | CA412823662 | SYN1 | c.1489G>T (p.Gly497Ter) c.70+193G>T (n.70+193G>T) | gnomAD v4 |
| X | g.47574495C>G | CA412823664 | SYN1 | c.1489G>C (p.Gly497Arg) c.70+193G>C (n.70+193G>C) | |
| X | g.47574495C>T | CA412823667 | SYN1 | c.1489G>A (p.Gly497Arg) c.70+193G>A (n.70+193G>A) | |
| X | g.47574496A>C | CA515991048 | SYN1 | c.1488T>G (p.Leu496=) c.70+192T>G (n.70+192T>G) | |
| X | g.47574496A>G | CA515991049 | SYN1 | c.1488T>C (p.Leu496=) c.70+192T>C (n.70+192T>C) | gnomAD v4 |
| X | g.47574496A>T | CA515991050 | SYN1 | c.1488T>A (p.Leu496=) c.70+192T>A (n.70+192T>A) | |
| X | g.47574497A>C | CA412823670 | SYN1 | c.1487T>G (p.Leu496Arg) c.70+191T>G (n.70+191T>G) | |
| X | g.47574497A>G | CA412823674 | SYN1 | c.1487T>C (p.Leu496Pro) c.70+191T>C (n.70+191T>C) | gnomAD v4 |
| X | g.47574497A>T | CA412823676 | SYN1 | c.1487T>A (p.Leu496His) c.70+191T>A (n.70+191T>A) | |
| X | g.47574498G>A | CA412823681 | SYN1 | c.1486C>T (p.Leu496Phe) c.70+190C>T (n.70+190C>T) | |
| X | g.47574498G>C | CA412823684 | SYN1 | c.1486C>G (p.Leu496Val) c.70+190C>G (n.70+190C>G) | |
| X | g.47574498G>T | CA412823686 | SYN1 | c.1486C>A (p.Leu496Ile) c.70+190C>A (n.70+190C>A) | gnomAD v4 |
| X | g.47574499G>A | CA515991052 | SYN1 | c.1485C>T (p.Gly495=) c.70+189C>T (n.70+189C>T) | |
| X | g.47574499G>C | CA515991053 | SYN1 | c.1485C>G (p.Gly495=) c.70+189C>G (n.70+189C>G) | |
| X | g.47574499G>T | CA515991054 | SYN1 | c.1485C>A (p.Gly495=) c.70+189C>A (n.70+189C>A) | gnomAD v4 |
| X | g.47574500C>A | CA412823693 | SYN1 | c.1484G>T (p.Gly495Val) c.70+188G>T (n.70+188G>T) | gnomAD v4 |
| X | g.47574500C>G | CA412823698 | SYN1 | c.1484G>C (p.Gly495Ala) c.70+188G>C (n.70+188G>C) | gnomAD v4 |
| X | g.47574500C>T | CA412823691 | SYN1 | c.1484G>A (p.Gly495Asp) c.70+188G>A (n.70+188G>A) | |
| X | g.47574501C>A | CA412823701 | SYN1 | c.1483G>T (p.Gly495Cys) c.70+187G>T (n.70+187G>T) | gnomAD v4 |
| X | g.47574501C>G | CA412823706 | SYN1 | c.1483G>C (p.Gly495Arg) c.70+187G>C (n.70+187G>C) | |
| X | g.47574501C>T | CA412823702 | SYN1 | c.1483G>A (p.Gly495Ser) c.70+187G>A (n.70+187G>A) | ClinVar gnomAD v4 |
| X | g.47574502T>A | CA515991055 | SYN1 | c.1482A>T (p.Ser494=) c.70+186A>T (n.70+186A>T) | gnomAD v4 |
| X | g.47574502T>C | CA515991056 | SYN1 | c.1482A>G (p.Ser494=) c.70+186A>G (n.70+186A>G) | gnomAD v4 |
| X | g.47574502T>G | CA515991058 | SYN1 | c.1482A>C (p.Ser494=) c.70+186A>C (n.70+186A>C) | |
| X | g.47574503G>A | CA329057383 | SYN1 | c.1481C>T (p.Ser494Leu) c.70+185C>T (n.70+185C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.47574503G>C | CA412823716 | SYN1 | c.1481C>G (p.Ser494Ter) c.70+185C>G (n.70+185C>G) | |
| X | g.47574503G= | CA2427971315 | SYN1 | c.1481C= (p.Ser494=) c.70+185C= (n.70+185C=) | |
| X | g.47574503G>T | CA412823712 | SYN1 | c.1481C>A (p.Ser494Ter) c.70+185C>A (n.70+185C>A) | dbSNP gnomAD v2 |
| X | g.47574504A>C | CA412823720 | SYN1 | c.1480T>G (p.Ser494Ala) c.70+184T>G (n.70+184T>G) | |
| X | g.47574504A>G | CA412823721 | SYN1 | c.1480T>C (p.Ser494Pro) c.70+184T>C (n.70+184T>C) | |
| X | g.47574504A>T | CA412823725 | SYN1 | c.1480T>A (p.Ser494Thr) c.70+184T>A (n.70+184T>A) | |
| X | g.47574506del | CA2693585227 | SYN1 | c.1480del (p.Ser494GlnfsTer?) c.70+184del (n.70+184del) | gnomAD v4 |
| X | g.47574505A>C | CA515991064 | SYN1 | c.1479T>G (p.Leu493=) c.70+183T>G (n.70+183T>G) | |
| X | g.47574505A>G | CA515991065 | SYN1 | c.1479T>C (p.Leu493=) c.70+183T>C (n.70+183T>C) | |
| X | g.47574505A>T | CA515991066 | SYN1 | c.1479T>A (p.Leu493=) c.70+183T>A (n.70+183T>A) | |
| X | g.47574506A>C | CA412823729 | SYN1 | c.1478T>G (p.Leu493Arg) c.70+182T>G (n.70+182T>G) | |
| X | g.47574506A>G | CA412823730 | SYN1 | c.1478T>C (p.Leu493Pro) c.70+182T>C (n.70+182T>C) | gnomAD v4 |
| X | g.47574506A>T | CA412823732 | SYN1 | c.1478T>A (p.Leu493His) c.70+182T>A (n.70+182T>A) | gnomAD v4 |
| X | g.47574507G>A | CA412823734 | SYN1 | c.1477C>T (p.Leu493Phe) c.70+181C>T (n.70+181C>T) | |
| X | g.47574507G>C | CA412823736 | SYN1 | c.1477C>G (p.Leu493Val) c.70+181C>G (n.70+181C>G) | |
| X | g.47574507G>T | CA412823738 | SYN1 | c.1477C>A (p.Leu493Ile) c.70+181C>A (n.70+181C>A) | |
| X | g.47574508G>A | CA515991071 | SYN1 | c.1476C>T (p.His492=) c.70+180C>T (n.70+180C>T) | gnomAD v4 |
| X | g.47574508G>C | CA412823742 | SYN1 | c.1476C>G (p.His492Gln) c.70+180C>G (n.70+180C>G) | |
| X | g.47574508G>T | CA412823744 | SYN1 | c.1476C>A (p.His492Gln) c.70+180C>A (n.70+180C>A) | |
| X | g.47574508_47574511delinsGTGC | CA2427971316 | SYN1 | c.1473_1476delinsGCAC (p.Gln491=) c.70+177_70+180delinsGCAC (n.70+177_70+180delinsGCAC) | |
| X | g.47574509T>A | CA412823767 | SYN1 | c.1475A>T (p.His492Leu) c.70+179A>T (n.70+179A>T) | |
| X | g.47574509T>C | CA412823764 | SYN1 | c.1475A>G (p.His492Arg) c.70+179A>G (n.70+179A>G) | |
| X | g.47574509T>G | CA412823748 | SYN1 | c.1475A>C (p.His492Pro) c.70+179A>C (n.70+179A>C) | dbSNP |
| X | g.47574509T= | CA2427971317 | SYN1 | c.1475A= (p.His492=) c.70+179A= (n.70+179A=) | |
| X | g.47574514_47574516del | CA318976 | SYN1 | c.1473_1475del (p.Gln491del) c.70+177_70+179del (n.70+177_70+179del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.47574510del | CA2579596682 | SYN1 | c.1474del (p.His492ThrfsTer?) c.70+178del (n.70+178del) | |
| X | g.47574510G>A | CA412823778 | SYN1 | c.1474C>T (p.His492Tyr) c.70+178C>T (n.70+178C>T) | gnomAD v4 |
| X | g.47574510G>C | CA412823782 | SYN1 | c.1474C>G (p.His492Asp) c.70+178C>G (n.70+178C>G) | gnomAD v4 |
| X | g.47574510G>T | CA412823786 | SYN1 | c.1474C>A (p.His492Asn) c.70+178C>A (n.70+178C>A) | gnomAD v4 |
| X | g.47574511C>A | CA412823789 | SYN1 | c.1473G>T (p.Gln491His) c.70+177G>T (n.70+177G>T) | gnomAD v4 |
| X | g.47574511C= | CA2427971318 | SYN1 | c.1473G= (p.Gln491=) c.70+177G= (n.70+177G=) | |
| X | g.47574511C>G | CA412823793 | SYN1 | c.1473G>C (p.Gln491His) c.70+177G>C (n.70+177G>C) | gnomAD v4 |
| X | g.47574511C>T | CA515991077 | SYN1 | c.1473G>A (p.Gln491=) c.70+177G>A (n.70+177G>A) | dbSNP gnomAD v4 |
| X | g.47574511_47574512insA | CA2695233456 | SYN1 | c.1472_1473insT (p.Gln491HisfsTer?) c.70+176_70+177insT (n.70+176_70+177insT) | |
| X | g.47574512T>A | CA412823796 | SYN1 | c.1472A>T (p.Gln491Leu) c.70+176A>T (n.70+176A>T) | |
| X | g.47574512T>C | CA412823798 | SYN1 | c.1472A>G (p.Gln491Arg) c.70+176A>G (n.70+176A>G) | gnomAD v4 |
| X | g.47574512T>G | CA412823801 | SYN1 | c.1472A>C (p.Gln491Pro) c.70+176A>C (n.70+176A>C) | |
| X | g.47574513del | CA2499226738 | SYN1 | c.1471del (p.Gln491SerfsTer?) c.70+175del (n.70+175del) | ClinVar dbSNP |
| X | g.47574513G>A | CA412823805 | SYN1 | c.1471C>T (p.Gln491Ter) c.70+175C>T (n.70+175C>T) | gnomAD v4 |
| X | g.47574513G>C | CA412823809 | SYN1 | c.1471C>G (p.Gln491Glu) c.70+175C>G (n.70+175C>G) | gnomAD v4 |
| X | g.47574513G>T | CA412823810 | SYN1 | c.1471C>A (p.Gln491Lys) c.70+175C>A (n.70+175C>A) | gnomAD v4 |
| X | g.47574514C>A | CA412823815 | SYN1 | c.1470G>T (p.Gln490His) c.70+174G>T (n.70+174G>T) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.47574514C= | CA2427971319 | SYN1 | c.1470G= (p.Gln490=) c.70+174G= (n.70+174G=) | |
| X | g.47574514C>G | CA412823817 | SYN1 | c.1470G>C (p.Gln490His) c.70+174G>C (n.70+174G>C) | |
| X | g.47574514C>T | CA515991080 | SYN1 | c.1470G>A (p.Gln490=) c.70+174G>A (n.70+174G>A) | gnomAD v4 |
| X | g.47574515T>A | CA412823819 | SYN1 | c.1469A>T (p.Gln490Leu) c.70+173A>T (n.70+173A>T) | |
| X | g.47574515T>C | CA412823823 | SYN1 | c.1469A>G (p.Gln490Arg) c.70+173A>G (n.70+173A>G) | gnomAD v4 |
| X | g.47574515T>G | CA412823824 | SYN1 | c.1469A>C (p.Gln490Pro) c.70+173A>C (n.70+173A>C) | |
| X | g.47574516G>A | CA412823827 | SYN1 | c.1468C>T (p.Gln490Ter) c.70+172C>T (n.70+172C>T) | gnomAD v4 |
| X | g.47574516G>C | CA412823830 | SYN1 | c.1468C>G (p.Gln490Glu) c.70+172C>G (n.70+172C>G) | |
| X | g.47574516G>T | CA412823833 | SYN1 | c.1468C>A (p.Gln490Lys) c.70+172C>A (n.70+172C>A) | gnomAD v4 |
| X | g.47574517G>A | CA515991081 | SYN1 | c.1467C>T (p.Gly489=) c.70+171C>T (n.70+171C>T) | |
| X | g.47574517G>C | CA515991082 | SYN1 | c.1467C>G (p.Gly489=) c.70+171C>G (n.70+171C>G) | |
| X | g.47574517G>T | CA515991083 | SYN1 | c.1467C>A (p.Gly489=) c.70+171C>A (n.70+171C>A) | gnomAD v4 |
| X | g.47574518C>A | CA412823835 | SYN1 | c.1466G>T (p.Gly489Val) c.70+170G>T (n.70+170G>T) | gnomAD v4 |
| X | g.47574518C= | CA2427971320 | SYN1 | c.1466G= (p.Gly489=) c.70+170G= (n.70+170G=) | |
| X | g.47574518C>G | CA329057392 | SYN1 | c.1466G>C (p.Gly489Ala) c.70+170G>C (n.70+170G>C) | dbSNP gnomAD v4 |
| X | g.47574518C>T | CA412823837 | SYN1 | c.1466G>A (p.Gly489Asp) c.70+170G>A (n.70+170G>A) | |
| X | g.47574520del | CA2693585228 | SYN1 | c.1466del (p.Gly489AlafsTer?) c.70+170del (n.70+170del) | gnomAD v4 |
| X | g.47574519C>A | CA412823839 | SYN1 | c.1465G>T (p.Gly489Cys) c.70+169G>T (n.70+169G>T) | |
| X | g.47574519C>G | CA412823841 | SYN1 | c.1465G>C (p.Gly489Arg) c.70+169G>C (n.70+169G>C) | |
| X | g.47574519C>T | CA412823844 | SYN1 | c.1465G>A (p.Gly489Ser) c.70+169G>A (n.70+169G>A) | |
| X | g.47574520C>A | CA412823849 | SYN1 | c.1464G>T (p.Gln488His) c.70+168G>T (n.70+168G>T) | |
| X | g.47574520C= | CA2427971321 | SYN1 | c.1464G= (p.Gln488=) c.70+168G= (n.70+168G=) | |
| X | g.47574520C>G | CA412823847 | SYN1 | c.1464G>C (p.Gln488His) c.70+168G>C (n.70+168G>C) | |
| X | g.47574520C>T | CA515991088 | SYN1 | c.1464G>A (p.Gln488=) c.70+168G>A (n.70+168G>A) | dbSNP |
| X | g.47574521T>A | CA412823853 | SYN1 | c.1463A>T (p.Gln488Leu) c.70+167A>T (n.70+167A>T) | |
| X | g.47574521T>C | CA412823857 | SYN1 | c.1463A>G (p.Gln488Arg) c.70+167A>G (n.70+167A>G) | gnomAD v4 |
| X | g.47574521T>G | CA412823860 | SYN1 | c.1463A>C (p.Gln488Pro) c.70+167A>C (n.70+167A>C) | gnomAD v4 |
| X | g.47574522G>A | CA412823864 | SYN1 | c.1462C>T (p.Gln488Ter) c.70+166C>T (n.70+166C>T) | gnomAD v4 |
| X | g.47574522G>C | CA412823869 | SYN1 | c.1462C>G (p.Gln488Glu) c.70+166C>G (n.70+166C>G) | |
| X | g.47574522G>T | CA412823871 | SYN1 | c.1462C>A (p.Gln488Lys) c.70+166C>A (n.70+166C>A) | gnomAD v4 |
| X | g.47574527_47574532del | CA2693585229 | SYN1 | c.1457_1462del (p.Pro486_Pro487del) c.70+161_70+166del (n.70+161_70+166del) | gnomAD v4 |
| X | g.47574523C>A | CA515991092 | SYN1 | c.1461G>T (p.Pro487=) c.70+165G>T (n.70+165G>T) | gnomAD v4 |
| X | g.47574523C>G | CA515991093 | SYN1 | c.1461G>C (p.Pro487=) c.70+165G>C (n.70+165G>C) | |
| X | g.47574523C>T | CA515991094 | SYN1 | c.1461G>A (p.Pro487=) c.70+165G>A (n.70+165G>A) | gnomAD v4 |
| X | g.47574524G>A | CA412823874 | SYN1 | c.1460C>T (p.Pro487Leu) c.70+164C>T (n.70+164C>T) | ClinVar dbSNP gnomAD v4 |
| X | g.47574524G>C | CA412823877 | SYN1 | c.1460C>G (p.Pro487Arg) c.70+164C>G (n.70+164C>G) | |
| X | g.47574524G>T | CA412823881 | SYN1 | c.1460C>A (p.Pro487Gln) c.70+164C>A (n.70+164C>A) | |
| X | g.47574528dup | CA2693585231 | SYN1 | c.1460dup (p.Gln488AlafsTer?) c.70+164dup (n.70+164dup) | gnomAD v4 |
| X | g.47574528del | CA2693585230 | SYN1 | c.1460del (p.Pro487ArgfsTer?) c.70+164del (n.70+164del) | gnomAD v4 |
| X | g.47574525G>A | CA412823886 | SYN1 | c.1459C>T (p.Pro487Ser) c.70+163C>T (n.70+163C>T) | gnomAD v4 |
| X | g.47574525G>C | CA412823888 | SYN1 | c.1459C>G (p.Pro487Ala) c.70+163C>G (n.70+163C>G) | gnomAD v4 |
| X | g.47574525G>T | CA412823892 | SYN1 | c.1459C>A (p.Pro487Thr) c.70+163C>A (n.70+163C>A) | gnomAD v4 |
| X | g.47574526G>A | CA515991097 | SYN1 | c.1458C>T (p.Pro486=) c.70+162C>T (n.70+162C>T) | |
| X | g.47574526G>C | CA515991098 | SYN1 | c.1458C>G (p.Pro486=) c.70+162C>G (n.70+162C>G) | |
| X | g.47574526G>T | CA515991099 | SYN1 | c.1458C>A (p.Pro486=) c.70+162C>A (n.70+162C>A) | gnomAD v4 |
| X | g.47574527G>A | CA412823900 | SYN1 | c.1457C>T (p.Pro486Leu) c.70+161C>T (n.70+161C>T) | |
| X | g.47574527G>C | CA412823898 | SYN1 | c.1457C>G (p.Pro486Arg) c.70+161C>G (n.70+161C>G) | |
| X | g.47574527G>T | CA412823895 | SYN1 | c.1457C>A (p.Pro486His) c.70+161C>A (n.70+161C>A) | gnomAD v4 |
| X | g.47574528G>A | CA412823905 | SYN1 | c.1456C>T (p.Pro486Ser) c.70+160C>T (n.70+160C>T) | gnomAD v4 |
| X | g.47574528G>C | CA412823908 | SYN1 | c.1456C>G (p.Pro486Ala) c.70+160C>G (n.70+160C>G) | |
| X | g.47574528G>T | CA412823906 | SYN1 | c.1456C>A (p.Pro486Thr) c.70+160C>A (n.70+160C>A) | gnomAD v4 |
| X | g.47574529C>A | CA515991104 | SYN1 | c.1455G>T (p.Pro485=) c.70+159G>T (n.70+159G>T) | gnomAD v4 |
| X | g.47574529C= | CA2427971322 | SYN1 | c.1455G= (p.Pro485=) c.70+159G= (n.70+159G=) | |
| X | g.47574529C>G | CA515991105 | SYN1 | c.1455G>C (p.Pro485=) c.70+159G>C (n.70+159G>C) | |
| X | g.47574529C>T | CA515991106 | SYN1 | c.1455G>A (p.Pro485=) c.70+159G>A (n.70+159G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.47574530G>A | CA412823910 | SYN1 | c.1454C>T (p.Pro485Leu) c.70+158C>T (n.70+158C>T) | gnomAD v4 |
| X | g.47574530G>C | CA412823913 | SYN1 | c.1454C>G (p.Pro485Arg) c.70+158C>G (n.70+158C>G) | |
| X | g.47574530G>T | CA412823915 | SYN1 | c.1454C>A (p.Pro485Gln) c.70+158C>A (n.70+158C>A) | gnomAD v4 |
| X | g.47574532del | CA2579596683 | SYN1 | c.1454del (p.Pro485ArgfsTer?) c.70+158del (n.70+158del) | |
| X | g.47574531G>A | CA412823918 | SYN1 | c.1453C>T (p.Pro485Ser) c.70+157C>T (n.70+157C>T) | |
| X | g.47574531G>C | CA412823923 | SYN1 | c.1453C>G (p.Pro485Ala) c.70+157C>G (n.70+157C>G) | |
| X | g.47574531G>T | CA412823925 | SYN1 | c.1453C>A (p.Pro485Thr) c.70+157C>A (n.70+157C>A) | gnomAD v4 |
| X | g.47574538_47574561dup | CA2693585232 | SYN1 | c.1430_1453dup (p.Arg484_Pro485insGlnGlyProProLeuGlnGlnArg) c.70+134_70+157dup (n.70+134_70+157dup) | gnomAD v4 |
| X | g.47574538_47574561del | CA2693585233 | SYN1 | c.1430_1453del (p.Gln477_Arg484del) c.70+134_70+157del (n.70+134_70+157del) | gnomAD v4 |
| X | g.47574532G>A | CA515991107 | SYN1 | c.1452C>T (p.Arg484=) c.70+156C>T (n.70+156C>T) | gnomAD v4 |
| X | g.47574532G>C | CA515991109 | SYN1 | c.1452C>G (p.Arg484=) c.70+156C>G (n.70+156C>G) | dbSNP |
| X | g.47574532G= | CA2427971323 | SYN1 | c.1452C= (p.Arg484=) c.70+156C= (n.70+156C=) | |
| X | g.47574532G>T | CA515991110 | SYN1 | c.1452C>A (p.Arg484=) c.70+156C>A (n.70+156C>A) | dbSNP gnomAD v4 |
| X | g.47574533C>A | CA412823927 | SYN1 | c.1451G>T (p.Arg484Leu) c.70+155G>T (n.70+155G>T) | |
| X | g.47574533C>G | CA412823928 | SYN1 | c.1451G>C (p.Arg484Pro) c.70+155G>C (n.70+155G>C) | |
| X | g.47574533C>T | CA412823930 | SYN1 | c.1451G>A (p.Arg484His) c.70+155G>A (n.70+155G>A) | gnomAD v4 |
| X | g.47574534G>A | CA412823932 | SYN1 | c.1450C>T (p.Arg484Cys) c.70+154C>T (n.70+154C>T) | gnomAD v4 COSMIC COSMIC |
| X | g.47574534G>C | CA412823933 | SYN1 | c.1450C>G (p.Arg484Gly) c.70+154C>G (n.70+154C>G) | |
| X | g.47574534G>T | CA412823934 | SYN1 | c.1450C>A (p.Arg484Ser) c.70+154C>A (n.70+154C>A) | gnomAD v4 |
| X | g.47574535C>A | CA412823941 | SYN1 | c.1449G>T (p.Gln483His) c.70+153G>T (n.70+153G>T) | gnomAD v4 |
| X | g.47574535C= | CA2427971324 | SYN1 | c.1449G= (p.Gln483=) c.70+153G= (n.70+153G=) | |
| X | g.47574535C>G | CA412823935 | SYN1 | c.1449G>C (p.Gln483His) c.70+153G>C (n.70+153G>C) | |
| X | g.47574535C>T | CA515991112 | SYN1 | c.1449G>A (p.Gln483=) c.70+153G>A (n.70+153G>A) | dbSNP gnomAD v4 |
| X | g.47574535_47574536del | CA2579596684 | SYN1 | c.1448_1449del (p.Gln483ProfsTer?) c.70+152_70+153del (n.70+152_70+153del) | |
| X | g.47574536T>A | CA412823944 | SYN1 | c.1448A>T (p.Gln483Leu) c.70+152A>T (n.70+152A>T) | |
| X | g.47574536T>C | CA412823949 | SYN1 | c.1448A>G (p.Gln483Arg) c.70+152A>G (n.70+152A>G) | |
| X | g.47574536T>G | CA318958 | SYN1 | c.1448A>C (p.Gln483Pro) c.70+152A>C (n.70+152A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.47574536T= | CA2427971325 | SYN1 | c.1448A= (p.Gln483=) c.70+152A= (n.70+152A=) | |
| X | g.47574537G>A | CA412823953 | SYN1 | c.1447C>T (p.Gln483Ter) c.70+151C>T (n.70+151C>T) | ClinVar dbSNP gnomAD v4 |
| X | g.47574537G>C | CA412823956 | SYN1 | c.1447C>G (p.Gln483Glu) c.70+151C>G (n.70+151C>G) | |
| X | g.47574537G= | CA2427971326 | SYN1 | c.1447C= (p.Gln483=) c.70+151C= (n.70+151C=) | |
| X | g.47574537G>T | CA412823958 | SYN1 | c.1447C>A (p.Gln483Lys) c.70+151C>A (n.70+151C>A) | gnomAD v4 |
| X | g.47574538C>A | CA412823959 | SYN1 | c.1446G>T (p.Gln482His) c.70+150G>T (n.70+150G>T) | gnomAD v4 |
| X | g.47574538C>G | CA412823962 | SYN1 | c.1446G>C (p.Gln482His) c.70+150G>C (n.70+150G>C) | |
| X | g.47574538C>T | CA515991114 | SYN1 | c.1446G>A (p.Gln482=) c.70+150G>A (n.70+150G>A) | gnomAD v4 |
| X | g.47574539T>A | CA412823965 | SYN1 | c.1445A>T (p.Gln482Leu) c.70+149A>T (n.70+149A>T) | |
| X | g.47574539T>C | CA412823968 | SYN1 | c.1445A>G (p.Gln482Arg) c.70+149A>G (n.70+149A>G) | |
| X | g.47574539T>G | CA412823969 | SYN1 | c.1445A>C (p.Gln482Pro) c.70+149A>C (n.70+149A>C) | |
| X | g.47574540G>A | CA412823981 | SYN1 | c.1444C>T (p.Gln482Ter) c.70+148C>T (n.70+148C>T) | ClinVar gnomAD v4 |
| X | g.47574540G>C | CA412823977 | SYN1 | c.1444C>G (p.Gln482Glu) c.70+148C>G (n.70+148C>G) | |
| X | g.47574540G>T | CA412823974 | SYN1 | c.1444C>A (p.Gln482Lys) c.70+148C>A (n.70+148C>A) | gnomAD v4 |
| X | g.47574541del | CA2579596685 | SYN1 | c.1443del (p.Leu481PhefsTer?) c.70+147del (n.70+147del) | |
| X | g.47574541C>A | CA412823987 | SYN1 | c.1443G>T (p.Leu481Phe) c.70+147G>T (n.70+147G>T) | gnomAD v4 |
| X | g.47574541C= | CA2427971327 | SYN1 | c.1443G= (p.Leu481=) c.70+147G= (n.70+147G=) | |
| X | g.47574541C>G | CA412823989 | SYN1 | c.1443G>C (p.Leu481Phe) c.70+147G>C (n.70+147G>C) | |
| X | g.47574541C>T | CA515991120 | SYN1 | c.1443G>A (p.Leu481=) c.70+147G>A (n.70+147G>A) | dbSNP gnomAD v4 |
| X | g.47574542A>C | CA412823993 | SYN1 | c.1442T>G (p.Leu481Trp) c.70+146T>G (n.70+146T>G) | |
| X | g.47574542A>G | CA412823995 | SYN1 | c.1442T>C (p.Leu481Ser) c.70+146T>C (n.70+146T>C) | |
| X | g.47574542A>T | CA412823998 | SYN1 | c.1442T>A (p.Leu481Ter) c.70+146T>A (n.70+146T>A) | |
| X | g.47574543A= | CA2427971328 | SYN1 | c.1441T= (p.Leu481=) c.70+145T= (n.70+145T=) | |
| X | g.47574543A>C | CA412824001 | SYN1 | c.1441T>G (p.Leu481Val) c.70+145T>G (n.70+145T>G) | |
| X | g.47574543A>G | CA515991121 | SYN1 | c.1441T>C (p.Leu481=) c.70+145T>C (n.70+145T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.47574543A>T | CA412824005 | SYN1 | c.1441T>A (p.Leu481Met) c.70+145T>A (n.70+145T>A) | |
| X | g.47574544T>A | CA515991126 | SYN1 | c.1440A>T (p.Pro480=) c.70+144A>T (n.70+144A>T) | gnomAD v4 |
| X | g.47574544T>C | CA515991122 | SYN1 | c.1440A>G (p.Pro480=) c.70+144A>G (n.70+144A>G) | |
| X | g.47574544T>G | CA515991124 | SYN1 | c.1440A>C (p.Pro480=) c.70+144A>C (n.70+144A>C) | |
| X | g.47574544T= | CA2427971329 | SYN1 | c.1440A= (p.Pro480=) c.70+144A= (n.70+144A=) | |
| X | g.47574550_47574565del | CA2693585234 | SYN1 | c.1425_1440del (p.Gln475HisfsTer?) c.70+129_70+144del (n.70+129_70+144del) | gnomAD v4 |
| X | g.47574545G>A | CA412824009 | SYN1 | c.1439C>T (p.Pro480Leu) c.70+143C>T (n.70+143C>T) | ClinVar |
| X | g.47574545G>C | CA412824013 | SYN1 | c.1439C>G (p.Pro480Arg) c.70+143C>G (n.70+143C>G) | |
| X | g.47574545G>T | CA412824016 | SYN1 | c.1439C>A (p.Pro480Gln) c.70+143C>A (n.70+143C>A) | gnomAD v4 |
| X | g.47574549dup | CA658684300 | SYN1 | c.1439dup (p.Leu481IlefsTer?) c.70+143dup (n.70+143dup) | ClinVar dbSNP gnomAD v4 |
| X | g.47574549del | CA2579596686 | SYN1 | c.1439del (p.Pro480HisfsTer?) c.70+143del (n.70+143del) |