4 | g.87612632C>A | CA357603584 | DSPP | c.446C>A (p.Thr149Lys)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.87612632C= | CA1474384532 | DSPP | c.446C= (p.Thr149=)
| |
4 | g.87612632C>G | CA3000897 | DSPP | c.446C>G (p.Thr149Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.87612632C>T | CA357603585 | DSPP | c.446C>T (p.Thr149Ile)
| |
4 | g.87612633A>C | CA440294215 | DSPP | c.447A>C (p.Thr149=)
| |
4 | g.87612633A>G | CA440294216 | DSPP | c.447A>G (p.Thr149=)
| |
4 | g.87612633A>T | CA440294217 | DSPP | c.447A>T (p.Thr149=)
| |
4 | g.87612634A= | CA1474384533 | DSPP | c.448A= (p.Asn150=)
| |
4 | g.87612634A>C | CA357603586 | DSPP | c.448A>C (p.Asn150His)
| |
4 | g.87612634A>G | CA100849696 | DSPP | c.448A>G (p.Asn150Asp)
| dbSNP gnomAD v4 |
4 | g.87612634A>T | CA357603587 | DSPP | c.448A>T (p.Asn150Tyr)
| |
4 | g.87612635A= | CA1474384534 | DSPP | c.449A= (p.Asn150=)
| |
4 | g.87612635A>C | CA357603590 | DSPP | c.449A>C (p.Asn150Thr)
| |
4 | g.87612635A>G | CA357603588 | DSPP | c.449A>G (p.Asn150Ser)
| |
4 | g.87612635A>T | CA357603589 | DSPP | c.449A>T (p.Asn150Ile)
| dbSNP |
4 | g.87612636C>A | CA357603591 | DSPP | c.450C>A (p.Asn150Lys)
| |
4 | g.87612636C>G | CA357603592 | DSPP | c.450C>G (p.Asn150Lys)
| |
4 | g.87612636C>T | CA440294221 | DSPP | c.450C>T (p.Asn150=)
| |
4 | g.87612637A>C | CA440294222 | DSPP | c.451A>C (p.Arg151=)
| |
4 | g.87612637A>G | CA357603593 | DSPP | c.451A>G (p.Arg151Gly)
| |
4 | g.87612637A>T | CA357603594 | DSPP | c.451A>T (p.Arg151Ter)
| |
4 | g.87612638G>A | CA357603595 | DSPP | c.452G>A (p.Arg151Lys)
| |
4 | g.87612638G>C | CA357603596 | DSPP | c.452G>C (p.Arg151Thr)
| |
4 | g.87612638G>T | CA357603597 | DSPP | c.452G>T (p.Arg151Ile)
| |
4 | g.87612639A>C | CA357603598 | DSPP | c.453A>C (p.Arg151Ser)
| |
4 | g.87612639A>G | CA440294225 | DSPP | c.453A>G (p.Arg151=)
| gnomAD v4 |
4 | g.87612639A>T | CA357603599 | DSPP | c.453A>T (p.Arg151Ser)
| |
4 | g.87612640A= | CA1474384535 | DSPP | c.454A= (p.Ser152=)
| |
4 | g.87612640A>C | CA357603600 | DSPP | c.454A>C (p.Ser152Arg)
| |
4 | g.87612640A>G | CA357603601 | DSPP | c.454A>G (p.Ser152Gly)
| dbSNP gnomAD v2 gnomAD v4 |
4 | g.87612640A>T | CA357603603 | DSPP | c.454A>T (p.Ser152Cys)
| |
4 | g.87612641G>A | CA357603607 | DSPP | c.455G>A (p.Ser152Asn)
| |
4 | g.87612641G>C | CA357603608 | DSPP | c.455G>C (p.Ser152Thr)
| |
4 | g.87612641G>T | CA357603605 | DSPP | c.455G>T (p.Ser152Ile)
| |
4 | g.87612642del | CA2762527068 | DSPP | c.456del (p.Ser152ArgfsTer?)
| |
4 | g.87612642C>A | CA357603609 | DSPP | c.456C>A (p.Ser152Arg)
| gnomAD v4 |
4 | g.87612642C= | CA1474384536 | DSPP | c.456C= (p.Ser152=)
| |
4 | g.87612642C>G | CA100849701 | DSPP | c.456C>G (p.Ser152Arg)
| dbSNP gnomAD v4 |
4 | g.87612642C>T | CA440294227 | DSPP | c.456C>T (p.Ser152=)
| gnomAD v4 |
4 | g.87612643A= | CA1474384537 | DSPP | c.457A= (p.Asn153=)
| |
4 | g.87612643A>C | CA357603612 | DSPP | c.457A>C (p.Asn153His)
| dbSNP |
4 | g.87612643A>G | CA357603610 | DSPP | c.457A>G (p.Asn153Asp)
| |
4 | g.87612643A>T | CA357603611 | DSPP | c.457A>T (p.Asn153Tyr)
| gnomAD v4 |
4 | g.87612644del | CA2557129059 | DSPP | c.458del (p.Asn153ThrfsTer?)
| |
4 | g.87612644A>C | CA357603613 | DSPP | c.458A>C (p.Asn153Thr)
| |
4 | g.87612644A>G | CA357603614 | DSPP | c.458A>G (p.Asn153Ser)
| |
4 | g.87612644A>T | CA357603615 | DSPP | c.458A>T (p.Asn153Ile)
| |
4 | g.87612645C>A | CA357603616 | DSPP | c.459C>A (p.Asn153Lys)
| |
4 | g.87612645C= | CA1474384538 | DSPP | c.459C= (p.Asn153=)
| |
4 | g.87612645C>G | CA357603617 | DSPP | c.459C>G (p.Asn153Lys)
| |
4 | g.87612645C>T | CA100849704 | DSPP | c.459C>T (p.Asn153=)
| dbSNP gnomAD v3 gnomAD v4 |
4 | g.87612646A>C | CA357603618 | DSPP | c.460A>C (p.Thr154Pro)
| |
4 | g.87612646A>G | CA357603620 | DSPP | c.460A>G (p.Thr154Ala)
| |
4 | g.87612646A>T | CA357603619 | DSPP | c.460A>T (p.Thr154Ser)
| |
4 | g.87612647C>A | CA357603621 | DSPP | c.461C>A (p.Thr154Asn)
| |
4 | g.87612647C= | CA1474384539 | DSPP | c.461C= (p.Thr154=)
| |
4 | g.87612647C>G | CA357603622 | DSPP | c.461C>G (p.Thr154Ser)
| dbSNP gnomAD v2 COSMIC |
4 | g.87612647C>T | CA357603623 | DSPP | c.461C>T (p.Thr154Ile)
| |
4 | g.87612648T>A | CA440294231 | DSPP | c.462T>A (p.Thr154=)
| |
4 | g.87612648T>C | CA3000898 | DSPP | c.462T>C (p.Thr154=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.87612648T>G | CA440294232 | DSPP | c.462T>G (p.Thr154=)
| |
4 | g.87612648T= | CA1474384540 | DSPP | c.462T= (p.Thr154=)
| |
4 | g.87612649A= | CA1474384541 | DSPP | c.463A= (p.Asn155=)
| |
4 | g.87612649A>C | CA357603624 | DSPP | c.463A>C (p.Asn155His)
| |
4 | g.87612649A>G | CA357603626 | DSPP | c.463A>G (p.Asn155Asp)
| dbSNP |
4 | g.87612649A>T | CA357603625 | DSPP | c.463A>T (p.Asn155Tyr)
| |
4 | g.87612650A>C | CA357603627 | DSPP | c.464A>C (p.Asn155Thr)
| |
4 | g.87612650A>G | CA357603628 | DSPP | c.464A>G (p.Asn155Ser)
| |
4 | g.87612650A>T | CA357603629 | DSPP | c.464A>T (p.Asn155Ile)
| |
4 | g.87612651T>A | CA357603630 | DSPP | c.465T>A (p.Asn155Lys)
| |
4 | g.87612651T>C | CA440294237 | DSPP | c.465T>C (p.Asn155=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.87612651T>G | CA357603631 | DSPP | c.465T>G (p.Asn155Lys)
| |
4 | g.87612651T= | CA1474384542 | DSPP | c.465T= (p.Asn155=)
| |
4 | g.87612652G>A | CA357603632 | DSPP | c.466G>A (p.Gly156Arg)
| |
4 | g.87612652G>C | CA357603633 | DSPP | c.466G>C (p.Gly156Arg)
| |
4 | g.87612652G>T | CA357603634 | DSPP | c.466G>T (p.Gly156Ter)
| |
4 | g.87612653G>A | CA357603635 | DSPP | c.467G>A (p.Gly156Glu)
| gnomAD v4 COSMIC |
4 | g.87612653G>C | CA357603636 | DSPP | c.467G>C (p.Gly156Ala)
| |
4 | g.87612653G>T | CA357603637 | DSPP | c.467G>T (p.Gly156Val)
| |
4 | g.87612654A>C | CA440294242 | DSPP | c.468A>C (p.Gly156=)
| COSMIC |
4 | g.87612654A>G | CA440294243 | DSPP | c.468A>G (p.Gly156=)
| |
4 | g.87612654A>T | CA440294244 | DSPP | c.468A>T (p.Gly156=)
| |
4 | g.87612655A>C | CA357603638 | DSPP | c.469A>C (p.Asn157His)
| COSMIC |
4 | g.87612655A>G | CA357603640 | DSPP | c.469A>G (p.Asn157Asp)
| |
4 | g.87612655A>T | CA357603639 | DSPP | c.469A>T (p.Asn157Tyr)
| |
4 | g.87612656A>C | CA357603641 | DSPP | c.470A>C (p.Asn157Thr)
| |
4 | g.87612656A>G | CA357603642 | DSPP | c.470A>G (p.Asn157Ser)
| |
4 | g.87612656A>T | CA357603643 | DSPP | c.470A>T (p.Asn157Ile)
| |
4 | g.87612657T>A | CA357603644 | DSPP | c.471T>A (p.Asn157Lys)
| |
4 | g.87612657T>C | CA440294250 | DSPP | c.471T>C (p.Asn157=)
| dbSNP gnomAD v2 gnomAD v4 |
4 | g.87612657T>G | CA357603645 | DSPP | c.471T>G (p.Asn157Lys)
| |
4 | g.87612657T= | CA1474384543 | DSPP | c.471T= (p.Asn157=)
| |
4 | g.87612658A>C | CA357603646 | DSPP | c.472A>C (p.Thr158Pro)
| |
4 | g.87612658A>G | CA357603647 | DSPP | c.472A>G (p.Thr158Ala)
| |
4 | g.87612658A>T | CA357603648 | DSPP | c.472A>T (p.Thr158Ser)
| |
4 | g.87612658_87612659insAAATGAAATATATTACAT | CA2560114701 | DSPP | c.472_473insAAATGAAATATATTACAT (p.Thr158delinsLysMetLysTyrIleThrSer)
| |
4 | g.87612659C>A | CA357603649 | DSPP | c.473C>A (p.Thr158Asn)
| |
4 | g.87612659C>G | CA357603650 | DSPP | c.473C>G (p.Thr158Ser)
| |
4 | g.87612659C>T | CA357603651 | DSPP | c.473C>T (p.Thr158Ile)
| gnomAD v4 |
4 | g.87612660T>A | CA440294261 | DSPP | c.474T>A (p.Thr158=)
| |
4 | g.87612660T>C | CA440294260 | DSPP | c.474T>C (p.Thr158=)
| |
4 | g.87612660T>G | CA440294259 | DSPP | c.474T>G (p.Thr158=)
| |
4 | g.87612661G>A | CA357603654 | DSPP | c.475G>A (p.Asp159Asn)
| dbSNP gnomAD v2 gnomAD v4 COSMIC |
4 | g.87612661G>C | CA357603653 | DSPP | c.475G>C (p.Asp159His)
| |
4 | g.87612661G= | CA1474384544 | DSPP | c.475G= (p.Asp159=)
| |
4 | g.87612661G>T | CA357603652 | DSPP | c.475G>T (p.Asp159Tyr)
| COSMIC |
4 | g.87612662A= | CA1474384545 | DSPP | c.476A= (p.Asp159=)
| |
4 | g.87612662A>C | CA357603655 | DSPP | c.476A>C (p.Asp159Ala)
| |
4 | g.87612662A>G | CA357603656 | DSPP | c.476A>G (p.Asp159Gly)
| dbSNP gnomAD v2 gnomAD v4 |
4 | g.87612662A>T | CA357603657 | DSPP | c.476A>T (p.Asp159Val)
| |
4 | g.87612663T>A | CA357603658 | DSPP | c.477T>A (p.Asp159Glu)
| gnomAD v4 |
4 | g.87612663T>C | CA3000899 | DSPP | c.477T>C (p.Asp159=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.87612663T>G | CA357603659 | DSPP | c.477T>G (p.Asp159Glu)
| |
4 | g.87612663T= | CA1474384546 | DSPP | c.477T= (p.Asp159=)
| |
4 | g.87612664A>C | CA357603660 | DSPP | c.478A>C (p.Lys160Gln)
| |
4 | g.87612664A>G | CA357603661 | DSPP | c.478A>G (p.Lys160Glu)
| |
4 | g.87612664A>T | CA357603662 | DSPP | c.478A>T (p.Lys160Ter)
| |
4 | g.87612665A>C | CA357603663 | DSPP | c.479A>C (p.Lys160Thr)
| |
4 | g.87612665A>G | CA357603664 | DSPP | c.479A>G (p.Lys160Arg)
| |
4 | g.87612665A>T | CA357603665 | DSPP | c.479A>T (p.Lys160Met)
| |
4 | g.87612666G>A | CA440294382 | DSPP | c.480G>A (p.Lys160=)
| |
4 | g.87612666G>C | CA357603667 | DSPP | c.480G>C (p.Lys160Asn)
| |
4 | g.87612666G>T | CA357603666 | DSPP | c.480G>T (p.Lys160Asn)
| COSMIC |
4 | g.87612667A>C | CA357603668 | DSPP | c.481A>C (p.Asn161His)
| |
4 | g.87612667A>G | CA357603669 | DSPP | c.481A>G (p.Asn161Asp)
| gnomAD v4 |
4 | g.87612667A>T | CA357603670 | DSPP | c.481A>T (p.Asn161Tyr)
| |
4 | g.87612668A>C | CA357603671 | DSPP | c.482A>C (p.Asn161Thr)
| |
4 | g.87612668A>G | CA357603672 | DSPP | c.482A>G (p.Asn161Ser)
| gnomAD v4 |
4 | g.87612668A>T | CA357603673 | DSPP | c.482A>T (p.Asn161Ile)
| |
4 | g.87612669T>A | CA357603675 | DSPP | c.483T>A (p.Asn161Lys)
| |
4 | g.87612669T>C | CA440294390 | DSPP | c.483T>C (p.Asn161=)
| ClinVar gnomAD v4 |
4 | g.87612669T>G | CA357603674 | DSPP | c.483T>G (p.Asn161Lys)
| |
4 | g.87612670A>C | CA357603676 | DSPP | c.484A>C (p.Thr162Pro)
| |
4 | g.87612670A>G | CA357603677 | DSPP | c.484A>G (p.Thr162Ala)
| gnomAD v4 |
4 | g.87612670A>T | CA357603678 | DSPP | c.484A>T (p.Thr162Ser)
| |
4 | g.87612671C>A | CA357603679 | DSPP | c.485C>A (p.Thr162Asn)
| |
4 | g.87612671C>G | CA357603680 | DSPP | c.485C>G (p.Thr162Ser)
| |
4 | g.87612671C>T | CA357603681 | DSPP | c.485C>T (p.Thr162Ile)
| |
4 | g.87612672C>A | CA440294392 | DSPP | c.486C>A (p.Thr162=)
| dbSNP gnomAD v4 |
4 | g.87612672C= | CA1474384547 | DSPP | c.486C= (p.Thr162=)
| |
4 | g.87612672C>G | CA440294391 | DSPP | c.486C>G (p.Thr162=)
| dbSNP gnomAD v3 gnomAD v4 COSMIC |
4 | g.87612672C>T | CA100849715 | DSPP | c.486C>T (p.Thr162=)
| dbSNP gnomAD v4 |
4 | g.87612673C>A | CA357603684 | DSPP | c.487C>A (p.Gln163Lys)
| |
4 | g.87612673C= | CA1474384548 | DSPP | c.487C= (p.Gln163=)
| |
4 | g.87612673C>G | CA357603682 | DSPP | c.487C>G (p.Gln163Glu)
| |
4 | g.87612673C>T | CA357603683 | DSPP | c.487C>T (p.Gln163Ter)
| dbSNP gnomAD v3 gnomAD v4 |
4 | g.87612674A>C | CA357603685 | DSPP | c.488A>C (p.Gln163Pro)
| |
4 | g.87612674A>G | CA357603686 | DSPP | c.488A>G (p.Gln163Arg)
| |
4 | g.87612674A>T | CA357603687 | DSPP | c.488A>T (p.Gln163Leu)
| |
4 | g.87612675A= | CA1474384549 | DSPP | c.489A= (p.Gln163=)
| |
4 | g.87612675A>C | CA357603688 | DSPP | c.489A>C (p.Gln163His)
| |
4 | g.87612675A>G | CA440294395 | DSPP | c.489A>G (p.Gln163=)
| dbSNP gnomAD v4 |
4 | g.87612675A>T | CA357603689 | DSPP | c.489A>T (p.Gln163His)
| |
4 | g.87612676A>C | CA357603690 | DSPP | c.490A>C (p.Asn164His)
| |
4 | g.87612676A>G | CA357603691 | DSPP | c.490A>G (p.Asn164Asp)
| |
4 | g.87612676A>T | CA357603692 | DSPP | c.490A>T (p.Asn164Tyr)
| |
4 | g.87612677A>C | CA357603693 | DSPP | c.491A>C (p.Asn164Thr)
| |
4 | g.87612677A>G | CA357603694 | DSPP | c.491A>G (p.Asn164Ser)
| |
4 | g.87612677A>T | CA357603695 | DSPP | c.491A>T (p.Asn164Ile)
| |
4 | g.87612678T>A | CA357603696 | DSPP | c.492T>A (p.Asn164Lys)
| |
4 | g.87612678T>C | CA440294401 | DSPP | c.492T>C (p.Asn164=)
| ClinVar |
4 | g.87612678T>G | CA3000900 | DSPP | c.492T>G (p.Asn164Lys)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.87612678T= | CA1474384550 | DSPP | c.492T= (p.Asn164=)
| |
4 | g.87612679G>A | CA3000901 | DSPP | c.493G>A (p.Gly165Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.87612679G>C | CA357603698 | DSPP | c.493G>C (p.Gly165Arg)
| |
4 | g.87612679G= | CA1474384551 | DSPP | c.493G= (p.Gly165=)
| |
4 | g.87612679G>T | CA357603697 | DSPP | c.493G>T (p.Gly165Trp)
| gnomAD v4 |
4 | g.87612682dup | CA100849721 | DSPP | c.496dup (p.Asp166GlyfsTer9)
| dbSNP |
4 | g.87612680G>A | CA357603699 | DSPP | c.494G>A (p.Gly165Glu)
| dbSNP gnomAD v3 gnomAD v4 |
4 | g.87612680G>C | CA357603700 | DSPP | c.494G>C (p.Gly165Ala)
| |
4 | g.87612680G= | CA1474384552 | DSPP | c.494G= (p.Gly165=)
| |
4 | g.87612680G>T | CA357603701 | DSPP | c.494G>T (p.Gly165Val)
| COSMIC |
4 | g.87612681G>A | CA3000902 | DSPP | c.495G>A (p.Gly165=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.87612681G>C | CA440294406 | DSPP | c.495G>C (p.Gly165=)
| |
4 | g.87612681G= | CA1474384553 | DSPP | c.495G= (p.Gly165=)
| |
4 | g.87612681G>T | CA440294407 | DSPP | c.495G>T (p.Gly165=)
| |
4 | g.87612682G>A | CA3000903 | DSPP | c.496G>A (p.Asp166Asn)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.87612682G>C | CA357603702 | DSPP | c.496G>C (p.Asp166His)
| |
4 | g.87612682G= | CA1474384554 | DSPP | c.496G= (p.Asp166=)
| |
4 | g.87612682G>T | CA357603703 | DSPP | c.496G>T (p.Asp166Tyr)
| |
4 | g.87612683A= | CA1474384555 | DSPP | c.497A= (p.Asp166=)
| |
4 | g.87612683A>C | CA357603704 | DSPP | c.497A>C (p.Asp166Ala)
| |
4 | g.87612683A>G | CA357603705 | DSPP | c.497A>G (p.Asp166Gly)
| |
4 | g.87612683A>T | CA357603706 | DSPP | c.497A>T (p.Asp166Val)
| dbSNP |
4 | g.87612684T>A | CA357603708 | DSPP | c.498T>A (p.Asp166Glu)
| |
4 | g.87612684T>C | CA3000904 | DSPP | c.498T>C (p.Asp166=)
| dbSNP ExAC |
4 | g.87612684T>G | CA357603707 | DSPP | c.498T>G (p.Asp166Glu)
| |
4 | g.87612684T= | CA1474384556 | DSPP | c.498T= (p.Asp166=)
| |
4 | g.87612685G>A | CA357603709 | DSPP | c.499G>A (p.Val167Ile)
| dbSNP gnomAD v4 |
4 | g.87612685G>C | CA357603710 | DSPP | c.499G>C (p.Val167Leu)
| |
4 | g.87612685G= | CA1474384557 | DSPP | c.499G= (p.Val167=)
| |
4 | g.87612685G>T | CA357603711 | DSPP | c.499G>T (p.Val167Phe)
| COSMIC |
4 | g.87612686T>A | CA357603712 | DSPP | c.500T>A (p.Val167Asp)
| ClinVar dbSNP |
4 | g.87612686T>C | CA357603713 | DSPP | c.500T>C (p.Val167Ala)
| dbSNP |
4 | g.87612686T>G | CA357603714 | DSPP | c.500T>G (p.Val167Gly)
| gnomAD v4 |
4 | g.87612686T= | CA1474384558 | DSPP | c.500T= (p.Val167=)
| |
4 | g.87612687T>A | CA440294417 | DSPP | c.501T>A (p.Val167=)
| |
4 | g.87612687T>C | CA440294418 | DSPP | c.501T>C (p.Val167=)
| |
4 | g.87612687T>G | CA440294420 | DSPP | c.501T>G (p.Val167=)
| |
4 | g.87612688G>A | CA3000905 | DSPP | c.502G>A (p.Gly168Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.87612688G>C | CA357603715 | DSPP | c.502G>C (p.Gly168Arg)
| |
4 | g.87612688G= | CA1474384559 | DSPP | c.502G= (p.Gly168=)
| |
4 | g.87612688G>T | CA357603716 | DSPP | c.502G>T (p.Gly168Cys)
| |
4 | g.87612689G>A | CA357603717 | DSPP | c.503G>A (p.Gly168Asp)
| |
4 | g.87612689G>C | CA3000906 | DSPP | c.503G>C (p.Gly168Ala)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.87612689G= | CA1474384560 | DSPP | c.503G= (p.Gly168=)
| |
4 | g.87612689G>T | CA357603718 | DSPP | c.503G>T (p.Gly168Val)
| |
4 | g.87612690C>A | CA440294425 | DSPP | c.504C>A (p.Gly168=)
| gnomAD v4 |
4 | g.87612690C= | CA1474384561 | DSPP | c.504C= (p.Gly168=)
| |
4 | g.87612690C>G | CA440294426 | DSPP | c.504C>G (p.Gly168=)
| |
4 | g.87612690C>T | CA3000907 | DSPP | c.504C>T (p.Gly168=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.87612691G>A | CA3000908 | DSPP | c.505G>A (p.Asp169Asn)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
4 | g.87612691G>C | CA357603720 | DSPP | c.505G>C (p.Asp169His)
| |
4 | g.87612691G= | CA1474384562 | DSPP | c.505G= (p.Asp169=)
| |
4 | g.87612691G>T | CA357603719 | DSPP | c.505G>T (p.Asp169Tyr)
| |
4 | g.87612692A= | CA1474384563 | DSPP | c.506A= (p.Asp169=)
| |
4 | g.87612692A>C | CA357603722 | DSPP | c.506A>C (p.Asp169Ala)
| |
4 | g.87612692A>G | CA357603721 | DSPP | c.506A>G (p.Asp169Gly)
| gnomAD v4 |
4 | g.87612692A>T | CA357603723 | DSPP | c.506A>T (p.Asp169Val)
| |
4 | g.87612693T>A | CA357603724 | DSPP | c.507T>A (p.Asp169Glu)
| |
4 | g.87612693T>C | CA440294428 | DSPP | c.507T>C (p.Asp169=)
| |
4 | g.87612693T>G | CA357603725 | DSPP | c.507T>G (p.Asp169Glu)
| |
4 | g.87612693dup | CA917246895 | DSPP | c.507dup (p.Ala170CysfsTer5)
| dbSNP |
4 | g.87612694G>A | CA357603726 | DSPP | c.508G>A (p.Ala170Thr)
| dbSNP gnomAD v2 gnomAD v4 |
4 | g.87612694G>C | CA357603727 | DSPP | c.508G>C (p.Ala170Pro)
| |
4 | g.87612694G= | CA1474384564 | DSPP | c.508G= (p.Ala170=)
| |
4 | g.87612694G>T | CA357603728 | DSPP | c.508G>T (p.Ala170Ser)
| |
4 | g.87612695C>A | CA357603729 | DSPP | c.509C>A (p.Ala170Glu)
| |
4 | g.87612695C>G | CA357603730 | DSPP | c.509C>G (p.Ala170Gly)
| |
4 | g.87612695C>T | CA357603731 | DSPP | c.509C>T (p.Ala170Val)
| |
4 | g.87612696A>C | CA440294435 | DSPP | c.510A>C (p.Ala170=)
| |
4 | g.87612696A>G | CA440294436 | DSPP | c.510A>G (p.Ala170=)
| |
4 | g.87612696A>T | CA440294438 | DSPP | c.510A>T (p.Ala170=)
| |
4 | g.87612697G>A | CA357603732 | DSPP | c.511G>A (p.Gly171Ser)
| |
4 | g.87612697G>C | CA357603733 | DSPP | c.511G>C (p.Gly171Arg)
| |
4 | g.87612697G>T | CA357603734 | DSPP | c.511G>T (p.Gly171Cys)
| |
4 | g.87612698G>A | CA3000909 | DSPP | c.512G>A (p.Gly171Asp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.87612698G>C | CA357603735 | DSPP | c.512G>C (p.Gly171Ala)
| |
4 | g.87612698G= | CA1474384565 | DSPP | c.512G= (p.Gly171=)
| |
4 | g.87612698G>T | CA357603736 | DSPP | c.512G>T (p.Gly171Val)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.87612699T>A | CA440294439 | DSPP | c.513T>A (p.Gly171=)
| gnomAD v4 |
4 | g.87612699T>C | CA440294440 | DSPP | c.513T>C (p.Gly171=)
| gnomAD v4 |
4 | g.87612699T>G | CA440294441 | DSPP | c.513T>G (p.Gly171=)
| |
4 | g.87612700C>A | CA357603737 | DSPP | c.514C>A (p.His172Asn)
| |
4 | g.87612700C>G | CA357603738 | DSPP | c.514C>G (p.His172Asp)
| |
4 | g.87612700C>T | CA357603739 | DSPP | c.514C>T (p.His172Tyr)
| |
4 | g.87612701A>C | CA357603740 | DSPP | c.515A>C (p.His172Pro)
| |
4 | g.87612701A>G | CA357603741 | DSPP | c.515A>G (p.His172Arg)
| |
4 | g.87612701A>T | CA357603742 | DSPP | c.515A>T (p.His172Leu)
| |
4 | g.87612702C>A | CA357603743 | DSPP | c.516C>A (p.His172Gln)
| |
4 | g.87612702C>G | CA357603744 | DSPP | c.516C>G (p.His172Gln)
| |
4 | g.87612702C>T | CA440294447 | DSPP | c.516C>T (p.His172=)
| |
4 | g.87612703A>C | CA357603745 | DSPP | c.517A>C (p.Asn173His)
| |
4 | g.87612703A>G | CA357603746 | DSPP | c.517A>G (p.Asn173Asp)
| gnomAD v4 |
4 | g.87612703A>T | CA357603747 | DSPP | c.517A>T (p.Asn173Tyr)
| |
4 | g.87612704A>C | CA357603749 | DSPP | c.518A>C (p.Asn173Thr)
| |
4 | g.87612704A>G | CA357603750 | DSPP | c.518A>G (p.Asn173Ser)
| |
4 | g.87612704A>T | CA357603748 | DSPP | c.518A>T (p.Asn173Ile)
| |
4 | g.87612705T>A | CA357603751 | DSPP | c.519T>A (p.Asn173Lys)
| |
4 | g.87612705T>C | CA440294451 | DSPP | c.519T>C (p.Asn173=)
| dbSNP gnomAD v4 |
4 | g.87612705T>G | CA357603752 | DSPP | c.519T>G (p.Asn173Lys)
| gnomAD v4 |
4 | g.87612706G>A | CA357603753 | DSPP | c.520G>A (p.Glu174Lys)
| gnomAD v4 |
4 | g.87612706G>C | CA357603754 | DSPP | c.520G>C (p.Glu174Gln)
| |
4 | g.87612706G>T | CA357603755 | DSPP | c.520G>T (p.Glu174Ter)
| |
4 | g.87612707A>C | CA357603758 | DSPP | c.521A>C (p.Glu174Ala)
| |
4 | g.87612707A>G | CA357603757 | DSPP | c.521A>G (p.Glu174Gly)
| |
4 | g.87612707A>T | CA357603756 | DSPP | c.521A>T (p.Glu174Val)
| |
4 | g.87612708G>A | CA3000910 | DSPP | c.522G>A (p.Glu174=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.87612708G>C | CA357603759 | DSPP | c.522G>C (p.Glu174Asp)
| |
4 | g.87612708G= | CA1474384566 | DSPP | c.522G= (p.Glu174=)
| |
4 | g.87612708G>T | CA357603760 | DSPP | c.522G>T (p.Glu174Asp)
| |
4 | g.87612709G>A | CA357603761 | DSPP | c.523G>A (p.Asp175Asn)
| |
4 | g.87612709G>C | CA357603762 | DSPP | c.523G>C (p.Asp175His)
| |
4 | g.87612709G= | CA1474384567 | DSPP | c.523G= (p.Asp175=)
| |
4 | g.87612709G>T | CA3000911 | DSPP | c.523G>T (p.Asp175Tyr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.87612710A= | CA1474384568 | DSPP | c.524A= (p.Asp175=)
| |
4 | g.87612710A>C | CA357603763 | DSPP | c.524A>C (p.Asp175Ala)
| |
4 | g.87612710A>G | CA357603765 | DSPP | c.524A>G (p.Asp175Gly)
| |
4 | g.87612710A>T | CA357603764 | DSPP | c.524A>T (p.Asp175Val)
| dbSNP gnomAD v4 |
4 | g.87612711T>A | CA357603766 | DSPP | c.525T>A (p.Asp175Glu)
| |
4 | g.87612711T>C | CA440294465 | DSPP | c.525T>C (p.Asp175=)
| |
4 | g.87612711T>G | CA357603767 | DSPP | c.525T>G (p.Asp175Glu)
| |
4 | g.87612712G>A | CA357603768 | DSPP | c.526G>A (p.Val176Ile)
| gnomAD v4 |
4 | g.87612712G>C | CA357603769 | DSPP | c.526G>C (p.Val176Leu)
| |
4 | g.87612712G>T | CA357603770 | DSPP | c.526G>T (p.Val176Phe)
| gnomAD v4 |
4 | g.87612713T>A | CA3000912 | DSPP | c.527T>A (p.Val176Asp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.87612713T>C | CA357603771 | DSPP | c.527T>C (p.Val176Ala)
| |
4 | g.87612713T>G | CA357603772 | DSPP | c.527T>G (p.Val176Gly)
| |
4 | g.87612713T= | CA1474384569 | DSPP | c.527T= (p.Val176=)
| |
4 | g.87612714C>A | CA440294470 | DSPP | c.528C>A (p.Val176=)
| dbSNP |
4 | g.87612714C= | CA1474384570 | DSPP | c.528C= (p.Val176=)
| |
4 | g.87612714C>G | CA440294471 | DSPP | c.528C>G (p.Val176=)
| gnomAD v4 |
4 | g.87612714C>T | CA3000913 | DSPP | c.528C>T (p.Val176=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
4 | g.87612715G>A | CA3000914 | DSPP | c.529G>A (p.Ala177Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.87612715G>C | CA357603773 | DSPP | c.529G>C (p.Ala177Pro)
| |
4 | g.87612715G= | CA1474384571 | DSPP | c.529G= (p.Ala177=)
| |
4 | g.87612715G>T | CA357603774 | DSPP | c.529G>T (p.Ala177Ser)
| |
4 | g.87612716C>A | CA357603776 | DSPP | c.530C>A (p.Ala177Asp)
| |
4 | g.87612716C>G | CA357603777 | DSPP | c.530C>G (p.Ala177Gly)
| |
4 | g.87612716C>T | CA357603775 | DSPP | c.530C>T (p.Ala177Val)
| gnomAD v4 |
4 | g.87612717T>A | CA440294473 | DSPP | c.531T>A (p.Ala177=)
| |
4 | g.87612717T>C | CA440294474 | DSPP | c.531T>C (p.Ala177=)
| |
4 | g.87612717T>G | CA440294475 | DSPP | c.531T>G (p.Ala177=)
| |
4 | g.87612718G>A | CA357603780 | DSPP | c.532G>A (p.Val178Ile)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.87612718G>C | CA357603778 | DSPP | c.532G>C (p.Val178Leu)
| |
4 | g.87612718G= | CA1474384572 | DSPP | c.532G= (p.Val178=)
| |
4 | g.87612718G>T | CA357603779 | DSPP | c.532G>T (p.Val178Phe)
| |
4 | g.87612719T>A | CA357603781 | DSPP | c.533T>A (p.Val178Asp)
| |
4 | g.87612719T>C | CA357603782 | DSPP | c.533T>C (p.Val178Ala)
| |
4 | g.87612719T>G | CA357603783 | DSPP | c.533T>G (p.Val178Gly)
| |
4 | g.87612720T>A | CA440294478 | DSPP | c.534T>A (p.Val178=)
| |
4 | g.87612720T>C | CA440294480 | DSPP | c.534T>C (p.Val178=)
| |
4 | g.87612720T>G | CA440294482 | DSPP | c.534T>G (p.Val178=)
| |
4 | g.87612721G>A | CA357603784 | DSPP | c.535G>A (p.Val179Ile)
| gnomAD v4 |
4 | g.87612721G>C | CA357603785 | DSPP | c.535G>C (p.Val179Leu)
| gnomAD v4 |
4 | g.87612721G>T | CA357603786 | DSPP | c.535G>T (p.Val179Phe)
| gnomAD v4 |
4 | g.87612722T>A | CA357603787 | DSPP | c.536T>A (p.Val179Asp)
| |
4 | g.87612722T>C | CA357603788 | DSPP | c.536T>C (p.Val179Ala)
| |
4 | g.87612722T>G | CA357603789 | DSPP | c.536T>G (p.Val179Gly)
| |
4 | g.87612723C>A | CA440294490 | DSPP | c.537C>A (p.Val179=)
| |
4 | g.87612723C>G | CA440294486 | DSPP | c.537C>G (p.Val179=)
| |
4 | g.87612723C>T | CA440294488 | DSPP | c.537C>T (p.Val179=)
| gnomAD v4 |
4 | g.87612724C>A | CA357603792 | DSPP | c.538C>A (p.Gln180Lys)
| |
4 | g.87612724C= | CA1474384573 | DSPP | c.538C= (p.Gln180=)
| |
4 | g.87612724C>G | CA357603791 | DSPP | c.538C>G (p.Gln180Glu)
| dbSNP |
4 | g.87612724C>T | CA357603790 | DSPP | c.538C>T (p.Gln180Ter)
| |
4 | g.87612725A>C | CA357603793 | DSPP | c.539A>C (p.Gln180Pro)
| |
4 | g.87612725A>G | CA357603794 | DSPP | c.539A>G (p.Gln180Arg)
| gnomAD v4 |
4 | g.87612725A>T | CA357603795 | DSPP | c.539A>T (p.Gln180Leu)
| |
4 | g.87612726A>C | CA357603796 | DSPP | c.540A>C (p.Gln180His)
| |
4 | g.87612726A>G | CA440294494 | DSPP | c.540A>G (p.Gln180=)
| |
4 | g.87612726A>T | CA357603797 | DSPP | c.540A>T (p.Gln180His)
| |
4 | g.87612727G>A | CA357603798 | DSPP | c.541G>A (p.Glu181Lys)
| |
4 | g.87612727G>C | CA357603799 | DSPP | c.541G>C (p.Glu181Gln)
| |
4 | g.87612727G>T | CA357603800 | DSPP | c.541G>T (p.Glu181Ter)
| |
4 | g.87612728A>C | CA357603801 | DSPP | c.542A>C (p.Glu181Ala)
| |
4 | g.87612728A>G | CA357603802 | DSPP | c.542A>G (p.Glu181Gly)
| |
4 | g.87612728A>T | CA357603803 | DSPP | c.542A>T (p.Glu181Val)
| |
4 | g.87612729A>C | CA357603804 | DSPP | c.543A>C (p.Glu181Asp)
| |
4 | g.87612729A>G | CA440294497 | DSPP | c.543A>G (p.Glu181=)
| |
4 | g.87612729A>T | CA357603805 | DSPP | c.543A>T (p.Glu181Asp)
| |
4 | g.87612730G>A | CA357603807 | DSPP | c.544G>A (p.Asp182Asn)
| |
4 | g.87612730G>C | CA357603808 | DSPP | c.544G>C (p.Asp182His)
| |
4 | g.87612730G>T | CA357603806 | DSPP | c.544G>T (p.Asp182Tyr)
| |
4 | g.87612731A>C | CA357603809 | DSPP | c.545A>C (p.Asp182Ala)
| |
4 | g.87612731A>G | CA357603810 | DSPP | c.545A>G (p.Asp182Gly)
| gnomAD v4 |
4 | g.87612731A>T | CA357603811 | DSPP | c.545A>T (p.Asp182Val)
| |
4 | g.87612732T>A | CA357603812 | DSPP | c.546T>A (p.Asp182Glu)
| |
4 | g.87612732T>C | CA440294499 | DSPP | c.546T>C (p.Asp182=)
| |
4 | g.87612732T>G | CA357603813 | DSPP | c.546T>G (p.Asp182Glu)
| |