Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.17270928C>A | CA338244458 | PADI3 | c.881C>A (p.Ala294Glu) c.767C>A (p.Ala256Glu) c.344C>A (p.Ala115Glu) | |
1 | g.17270928C= | CA1141968665 | PADI3 | c.881C= (p.Ala294=) c.767C= (p.Ala256=) c.344C= (p.Ala115=) | |
1 | g.17270928C>G | CA338244465 | PADI3 | c.881C>G (p.Ala294Gly) c.767C>G (p.Ala256Gly) c.344C>G (p.Ala115Gly) | |
1 | g.17270928C>T | CA639859 | PADI3 | c.881C>T (p.Ala294Val) c.767C>T (p.Ala256Val) c.344C>T (p.Ala115Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.17270929_17270931del | CA2574237734 | PADI3 | c.882_884del (p.Pro295del) c.768_770del (p.Pro257del) c.345_347del (p.Pro116del) | |
1 | g.17270929A= | CA1156179230 | PADI3 | c.882A= (p.Ala294=) c.768A= (p.Ala256=) c.345A= (p.Ala115=) | |
1 | g.17270929A>C | CA416656015 | PADI3 | c.882A>C (p.Ala294=) c.768A>C (p.Ala256=) c.345A>C (p.Ala115=) | |
1 | g.17270929A>G | CA18650767 | PADI3 | c.882A>G (p.Ala294=) c.768A>G (p.Ala256=) c.345A>G (p.Ala115=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.17270929A>T | CA416656018 | PADI3 | c.882A>T (p.Ala294=) c.768A>T (p.Ala256=) c.345A>T (p.Ala115=) | |
1 | g.17270930C>A | CA338244483 | PADI3 | c.883C>A (p.Pro295Thr) c.769C>A (p.Pro257Thr) c.346C>A (p.Pro116Thr) | dbSNP |
1 | g.17270930C= | CA1156179234 | PADI3 | c.883C= (p.Pro295=) c.769C= (p.Pro257=) c.346C= (p.Pro116=) | |
1 | g.17270930C>G | CA338244482 | PADI3 | c.883C>G (p.Pro295Ala) c.769C>G (p.Pro257Ala) c.346C>G (p.Pro116Ala) | |
1 | g.17270930C>T | CA338244478 | PADI3 | c.883C>T (p.Pro295Ser) c.769C>T (p.Pro257Ser) c.346C>T (p.Pro116Ser) | gnomAD v4 |
1 | g.17270931C>A | CA338244487 | PADI3 | c.884C>A (p.Pro295His) c.770C>A (p.Pro257His) c.347C>A (p.Pro116His) | |
1 | g.17270931C>G | CA338244489 | PADI3 | c.884C>G (p.Pro295Arg) c.770C>G (p.Pro257Arg) c.347C>G (p.Pro116Arg) | |
1 | g.17270931C>T | CA338244493 | PADI3 | c.884C>T (p.Pro295Leu) c.770C>T (p.Pro257Leu) c.347C>T (p.Pro116Leu) | |
1 | g.17270932C>A | CA416656027 | PADI3 | c.885C>A (p.Pro295=) c.771C>A (p.Pro257=) c.348C>A (p.Pro116=) | |
1 | g.17270932C>G | CA416656030 | PADI3 | c.885C>G (p.Pro295=) c.771C>G (p.Pro257=) c.348C>G (p.Pro116=) | |
1 | g.17270932C>T | CA416656031 | PADI3 | c.885C>T (p.Pro295=) c.771C>T (p.Pro257=) c.348C>T (p.Pro116=) | |
1 | g.17270933T>A | CA338244494 | PADI3 | c.886T>A (p.Trp296Arg) c.772T>A (p.Trp258Arg) c.349T>A (p.Trp117Arg) | |
1 | g.17270933T>C | CA338244496 | PADI3 | c.886T>C (p.Trp296Arg) c.772T>C (p.Trp258Arg) c.349T>C (p.Trp117Arg) | gnomAD v4 |
1 | g.17270933T>G | CA338244500 | PADI3 | c.886T>G (p.Trp296Gly) c.772T>G (p.Trp258Gly) c.349T>G (p.Trp117Gly) | |
1 | g.17270934G>A | CA338244521 | PADI3 | c.887G>A (p.Trp296Ter) c.773G>A (p.Trp258Ter) c.350G>A (p.Trp117Ter) | |
1 | g.17270934G>C | CA338244527 | PADI3 | c.887G>C (p.Trp296Ser) c.773G>C (p.Trp258Ser) c.350G>C (p.Trp117Ser) | |
1 | g.17270934G>T | CA338244529 | PADI3 | c.887G>T (p.Trp296Leu) c.773G>T (p.Trp258Leu) c.350G>T (p.Trp117Leu) | |
1 | g.17270935G>A | CA338244531 | PADI3 | c.888G>A (p.Trp296Ter) c.774G>A (p.Trp258Ter) c.351G>A (p.Trp117Ter) | COSMIC |
1 | g.17270935G>C | CA338244532 | PADI3 | c.888G>C (p.Trp296Cys) c.774G>C (p.Trp258Cys) c.351G>C (p.Trp117Cys) | |
1 | g.17270935G>T | CA338244534 | PADI3 | c.888G>T (p.Trp296Cys) c.774G>T (p.Trp258Cys) c.351G>T (p.Trp117Cys) | |
1 | g.17270936A= | CA1156179235 | PADI3 | c.889A= (p.Ile297=) c.775A= (p.Ile259=) c.352A= (p.Ile118=) | |
1 | g.17270936A>C | CA338244548 | PADI3 | c.889A>C (p.Ile297Leu) c.775A>C (p.Ile259Leu) c.352A>C (p.Ile118Leu) | |
1 | g.17270936A>G | CA338244550 | PADI3 | c.889A>G (p.Ile297Val) c.775A>G (p.Ile259Val) c.352A>G (p.Ile118Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.17270936A>T | CA338244544 | PADI3 | c.889A>T (p.Ile297Phe) c.775A>T (p.Ile259Phe) c.352A>T (p.Ile118Phe) | |
1 | g.17270937T>A | CA338244553 | PADI3 | c.890T>A (p.Ile297Asn) c.776T>A (p.Ile259Asn) c.353T>A (p.Ile118Asn) | |
1 | g.17270937T>C | CA338244554 | PADI3 | c.890T>C (p.Ile297Thr) c.776T>C (p.Ile259Thr) c.353T>C (p.Ile118Thr) | |
1 | g.17270937T>G | CA338244557 | PADI3 | c.890T>G (p.Ile297Ser) c.776T>G (p.Ile259Ser) c.353T>G (p.Ile118Ser) | |
1 | g.17270938C>A | CA416656051 | PADI3 | c.891C>A (p.Ile297=) c.777C>A (p.Ile259=) c.354C>A (p.Ile118=) | |
1 | g.17270938C>G | CA338244561 | PADI3 | c.891C>G (p.Ile297Met) c.777C>G (p.Ile259Met) c.354C>G (p.Ile118Met) | |
1 | g.17270938C>T | CA416656053 | PADI3 | c.891C>T (p.Ile297=) c.777C>T (p.Ile259=) c.354C>T (p.Ile118=) | |
1 | g.17270939A= | CA1141752310 | PADI3 | c.892A= (p.Met298=) c.778A= (p.Met260=) c.355A= (p.Met119=) | |
1 | g.17270939A>C | CA338244566 | PADI3 | c.892A>C (p.Met298Leu) c.778A>C (p.Met260Leu) c.355A>C (p.Met119Leu) | |
1 | g.17270939A>G | CA639860 | PADI3 | c.892A>G (p.Met298Val) c.778A>G (p.Met260Val) c.355A>G (p.Met119Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.17270939A>T | CA338244580 | PADI3 | c.892A>T (p.Met298Leu) c.778A>T (p.Met260Leu) c.355A>T (p.Met119Leu) | |
1 | g.17270940T>A | CA338244582 | PADI3 | c.893T>A (p.Met298Lys) c.779T>A (p.Met260Lys) c.356T>A (p.Met119Lys) | gnomAD v4 |
1 | g.17270940T>C | CA338244583 | PADI3 | c.893T>C (p.Met298Thr) c.779T>C (p.Met260Thr) c.356T>C (p.Met119Thr) | |
1 | g.17270940T>G | CA338244584 | PADI3 | c.893T>G (p.Met298Arg) c.779T>G (p.Met260Arg) c.356T>G (p.Met119Arg) | |
1 | g.17270941G>A | CA338244588 | PADI3 | c.894G>A (p.Met298Ile) c.780G>A (p.Met260Ile) c.357G>A (p.Met119Ile) | |
1 | g.17270941G>C | CA338244590 | PADI3 | c.894G>C (p.Met298Ile) c.780G>C (p.Met260Ile) c.357G>C (p.Met119Ile) | |
1 | g.17270941G>T | CA338244592 | PADI3 | c.894G>T (p.Met298Ile) c.780G>T (p.Met260Ile) c.357G>T (p.Met119Ile) | |
1 | g.17270942A= | CA1156179240 | PADI3 | c.895A= (p.Thr299=) c.781A= (p.Thr261=) c.358A= (p.Thr120=) | |
1 | g.17270942A>C | CA338244617 | PADI3 | c.895A>C (p.Thr299Pro) c.781A>C (p.Thr261Pro) c.358A>C (p.Thr120Pro) | |
1 | g.17270942A>G | CA338244613 | PADI3 | c.895A>G (p.Thr299Ala) c.781A>G (p.Thr261Ala) c.358A>G (p.Thr120Ala) | dbSNP |
1 | g.17270942A>T | CA338244600 | PADI3 | c.895A>T (p.Thr299Ser) c.781A>T (p.Thr261Ser) c.358A>T (p.Thr120Ser) | |
1 | g.17270943C>A | CA338244621 | PADI3 | c.896C>A (p.Thr299Lys) c.782C>A (p.Thr261Lys) c.359C>A (p.Thr120Lys) | gnomAD v4 COSMIC |
1 | g.17270943C= | CA1146062046 | PADI3 | c.896C= (p.Thr299=) c.782C= (p.Thr261=) c.359C= (p.Thr120=) | |
1 | g.17270943C>G | CA338244624 | PADI3 | c.896C>G (p.Thr299Arg) c.782C>G (p.Thr261Arg) c.359C>G (p.Thr120Arg) | |
1 | g.17270943C>T | CA639861 | PADI3 | c.896C>T (p.Thr299Met) c.782C>T (p.Thr261Met) c.359C>T (p.Thr120Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.17270944G>A | CA639862 | PADI3 | c.897G>A (p.Thr299=) c.783G>A (p.Thr261=) c.360G>A (p.Thr120=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.17270944G>C | CA416656073 | PADI3 | c.897G>C (p.Thr299=) c.783G>C (p.Thr261=) c.360G>C (p.Thr120=) | |
1 | g.17270944G= | CA1148260947 | PADI3 | c.897G= (p.Thr299=) c.783G= (p.Thr261=) c.360G= (p.Thr120=) | |
1 | g.17270944G>T | CA416656075 | PADI3 | c.897G>T (p.Thr299=) c.783G>T (p.Thr261=) c.360G>T (p.Thr120=) | |
1 | g.17270945C>A | CA338244637 | PADI3 | c.898C>A (p.Pro300Thr) c.784C>A (p.Pro262Thr) c.361C>A (p.Pro121Thr) | |
1 | g.17270945C>G | CA338244639 | PADI3 | c.898C>G (p.Pro300Ala) c.784C>G (p.Pro262Ala) c.361C>G (p.Pro121Ala) | |
1 | g.17270945C>T | CA338244642 | PADI3 | c.898C>T (p.Pro300Ser) c.784C>T (p.Pro262Ser) c.361C>T (p.Pro121Ser) | |
1 | g.17270946C>A | CA338244645 | PADI3 | c.899C>A (p.Pro300His) c.785C>A (p.Pro262His) c.362C>A (p.Pro121His) | |
1 | g.17270946C>G | CA338244660 | PADI3 | c.899C>G (p.Pro300Arg) c.785C>G (p.Pro262Arg) c.362C>G (p.Pro121Arg) | gnomAD v4 |
1 | g.17270946C>T | CA338244661 | PADI3 | c.899C>T (p.Pro300Leu) c.785C>T (p.Pro262Leu) c.362C>T (p.Pro121Leu) | |
1 | g.17270947C>A | CA416656084 | PADI3 | c.900C>A (p.Pro300=) c.786C>A (p.Pro262=) c.363C>A (p.Pro121=) | gnomAD v4 |
1 | g.17270947C= | CA1156179248 | PADI3 | c.900C= (p.Pro300=) c.786C= (p.Pro262=) c.363C= (p.Pro121=) | |
1 | g.17270947C>G | CA416656086 | PADI3 | c.900C>G (p.Pro300=) c.786C>G (p.Pro262=) c.363C>G (p.Pro121=) | |
1 | g.17270947C>T | CA639863 | PADI3 | c.900C>T (p.Pro300=) c.786C>T (p.Pro262=) c.363C>T (p.Pro121=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.17270948A= | CA1156179251 | PADI3 | c.901A= (p.Ser301=) c.787A= (p.Ser263=) c.364A= (p.Ser122=) | |
1 | g.17270948A>C | CA338244662 | PADI3 | c.901A>C (p.Ser301Arg) c.787A>C (p.Ser263Arg) c.364A>C (p.Ser122Arg) | |
1 | g.17270948A>G | CA338244663 | PADI3 | c.901A>G (p.Ser301Gly) c.787A>G (p.Ser263Gly) c.364A>G (p.Ser122Gly) | dbSNP |
1 | g.17270948A>T | CA338244664 | PADI3 | c.901A>T (p.Ser301Cys) c.787A>T (p.Ser263Cys) c.364A>T (p.Ser122Cys) | |
1 | g.17270949G>A | CA338244671 | PADI3 | c.902G>A (p.Ser301Asn) c.788G>A (p.Ser263Asn) c.365G>A (p.Ser122Asn) | |
1 | g.17270949G>C | CA338244672 | PADI3 | c.902G>C (p.Ser301Thr) c.788G>C (p.Ser263Thr) c.365G>C (p.Ser122Thr) | |
1 | g.17270949G>T | CA338244667 | PADI3 | c.902G>T (p.Ser301Ile) c.788G>T (p.Ser263Ile) c.365G>T (p.Ser122Ile) | |
1 | g.17270950C>A | CA338244676 | PADI3 | c.903C>A (p.Ser301Arg) c.789C>A (p.Ser263Arg) c.366C>A (p.Ser122Arg) | |
1 | g.17270950C= | CA1156179255 | PADI3 | c.903C= (p.Ser301=) c.789C= (p.Ser263=) c.366C= (p.Ser122=) | |
1 | g.17270950C>G | CA338244675 | PADI3 | c.903C>G (p.Ser301Arg) c.789C>G (p.Ser263Arg) c.366C>G (p.Ser122Arg) | |
1 | g.17270950C>T | CA639864 | PADI3 | c.903C>T (p.Ser301=) c.789C>T (p.Ser263=) c.366C>T (p.Ser122=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.17270951A>C | CA338244683 | PADI3 | c.904A>C (p.Thr302Pro) c.790A>C (p.Thr264Pro) c.367A>C (p.Thr123Pro) | |
1 | g.17270951A>G | CA338244691 | PADI3 | c.904A>G (p.Thr302Ala) c.790A>G (p.Thr264Ala) c.367A>G (p.Thr123Ala) | gnomAD v4 |
1 | g.17270951A>T | CA338244700 | PADI3 | c.904A>T (p.Thr302Ser) c.790A>T (p.Thr264Ser) c.367A>T (p.Thr123Ser) | |
1 | g.17270952C>A | CA338244704 | PADI3 | c.905C>A (p.Thr302Asn) c.791C>A (p.Thr264Asn) c.368C>A (p.Thr123Asn) | |
1 | g.17270952C= | CA1156179257 | PADI3 | c.905C= (p.Thr302=) c.791C= (p.Thr264=) c.368C= (p.Thr123=) | |
1 | g.17270952C>G | CA338244707 | PADI3 | c.905C>G (p.Thr302Ser) c.791C>G (p.Thr264Ser) c.368C>G (p.Thr123Ser) | |
1 | g.17270952C>T | CA338244725 | PADI3 | c.905C>T (p.Thr302Ile) c.791C>T (p.Thr264Ile) c.368C>T (p.Thr123Ile) | dbSNP gnomAD v4 |
1 | g.17270953T>A | CA416656109 | PADI3 | c.906T>A (p.Thr302=) c.792T>A (p.Thr264=) c.369T>A (p.Thr123=) | |
1 | g.17270953T>C | CA416656110 | PADI3 | c.906T>C (p.Thr302=) c.792T>C (p.Thr264=) c.369T>C (p.Thr123=) | gnomAD v4 |
1 | g.17270953T>G | CA416656113 | PADI3 | c.906T>G (p.Thr302=) c.792T>G (p.Thr264=) c.369T>G (p.Thr123=) | |
1 | g.17270954C>A | CA338244730 | PADI3 | c.907C>A (p.Leu303Met) c.793C>A (p.Leu265Met) c.370C>A (p.Leu124Met) | |
1 | g.17270954C>G | CA338244729 | PADI3 | c.907C>G (p.Leu303Val) c.793C>G (p.Leu265Val) c.370C>G (p.Leu124Val) | COSMIC |
1 | g.17270954C>T | CA416656118 | PADI3 | c.907C>T (p.Leu303=) c.793C>T (p.Leu265=) c.370C>T (p.Leu124=) | |
1 | g.17270955T>A | CA338244737 | PADI3 | c.908T>A (p.Leu303Gln) c.794T>A (p.Leu265Gln) c.371T>A (p.Leu124Gln) | |
1 | g.17270955T>C | CA338244738 | PADI3 | c.908T>C (p.Leu303Pro) c.794T>C (p.Leu265Pro) c.371T>C (p.Leu124Pro) | |
1 | g.17270955T>G | CA338244744 | PADI3 | c.908T>G (p.Leu303Arg) c.794T>G (p.Leu265Arg) c.371T>G (p.Leu124Arg) | |
1 | g.17270956G>A | CA416656128 | PADI3 | c.909G>A (p.Leu303=) c.795G>A (p.Leu265=) c.372G>A (p.Leu124=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.17270956G>C | CA416656126 | PADI3 | c.909G>C (p.Leu303=) c.795G>C (p.Leu265=) c.372G>C (p.Leu124=) | |
1 | g.17270956G= | CA1156179259 | PADI3 | c.909G= (p.Leu303=) c.795G= (p.Leu265=) c.372G= (p.Leu124=) | |
1 | g.17270956G>T | CA416656124 | PADI3 | c.909G>T (p.Leu303=) c.795G>T (p.Leu265=) c.372G>T (p.Leu124=) | |
1 | g.17270957C>A | CA18650785 | PADI3 | c.910C>A (p.Pro304Thr) c.796C>A (p.Pro266Thr) c.373C>A (p.Pro125Thr) | dbSNP |
1 | g.17270957C= | CA1156179262 | PADI3 | c.910C= (p.Pro304=) c.796C= (p.Pro266=) c.373C= (p.Pro125=) | |
1 | g.17270957C>G | CA338244750 | PADI3 | c.910C>G (p.Pro304Ala) c.796C>G (p.Pro266Ala) c.373C>G (p.Pro125Ala) | |
1 | g.17270957C>T | CA338244751 | PADI3 | c.910C>T (p.Pro304Ser) c.796C>T (p.Pro266Ser) c.373C>T (p.Pro125Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.17270958C>A | CA338244754 | PADI3 | c.911C>A (p.Pro304Gln) c.797C>A (p.Pro266Gln) c.374C>A (p.Pro125Gln) | |
1 | g.17270958C>G | CA338244752 | PADI3 | c.911C>G (p.Pro304Arg) c.797C>G (p.Pro266Arg) c.374C>G (p.Pro125Arg) | gnomAD v4 |
1 | g.17270958C>T | CA338244753 | PADI3 | c.911C>T (p.Pro304Leu) c.797C>T (p.Pro266Leu) c.374C>T (p.Pro125Leu) | |
1 | g.17270959A>C | CA416656142 | PADI3 | c.912A>C (p.Pro304=) c.798A>C (p.Pro266=) c.375A>C (p.Pro125=) | |
1 | g.17270959A>G | CA416656141 | PADI3 | c.912A>G (p.Pro304=) c.798A>G (p.Pro266=) c.375A>G (p.Pro125=) | dbSNP |
1 | g.17270959A>T | CA416656139 | PADI3 | c.912A>T (p.Pro304=) c.798A>T (p.Pro266=) c.375A>T (p.Pro125=) | |
1 | g.17270960C>A | CA338244755 | PADI3 | c.913C>A (p.Pro305Thr) c.799C>A (p.Pro267Thr) c.376C>A (p.Pro126Thr) | gnomAD v4 |
1 | g.17270960C>G | CA338244757 | PADI3 | c.913C>G (p.Pro305Ala) c.799C>G (p.Pro267Ala) c.376C>G (p.Pro126Ala) | |
1 | g.17270960C>T | CA338244759 | PADI3 | c.913C>T (p.Pro305Ser) c.799C>T (p.Pro267Ser) c.376C>T (p.Pro126Ser) | |
1 | g.17270961C>A | CA338244764 | PADI3 | c.914C>A (p.Pro305His) c.800C>A (p.Pro267His) c.377C>A (p.Pro126His) | |
1 | g.17270961C= | CA1156179264 | PADI3 | c.914C= (p.Pro305=) c.800C= (p.Pro267=) c.377C= (p.Pro126=) | |
1 | g.17270961C>G | CA338244765 | PADI3 | c.914C>G (p.Pro305Arg) c.800C>G (p.Pro267Arg) c.377C>G (p.Pro126Arg) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.17270961C>T | CA338244769 | PADI3 | c.914C>T (p.Pro305Leu) c.800C>T (p.Pro267Leu) c.377C>T (p.Pro126Leu) | |
1 | g.17270962C>A | CA416656152 | PADI3 | c.915C>A (p.Pro305=) c.801C>A (p.Pro267=) c.378C>A (p.Pro126=) | |
1 | g.17270962C= | CA1156179267 | PADI3 | c.915C= (p.Pro305=) c.801C= (p.Pro267=) c.378C= (p.Pro126=) | |
1 | g.17270962C>G | CA416656156 | PADI3 | c.915C>G (p.Pro305=) c.801C>G (p.Pro267=) c.378C>G (p.Pro126=) | gnomAD v4 |
1 | g.17270962C>T | CA639865 | PADI3 | c.915C>T (p.Pro305=) c.801C>T (p.Pro267=) c.378C>T (p.Pro126=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.17270963C>A | CA338244773 | PADI3 | c.916C>A (p.Leu306Ile) c.802C>A (p.Leu268Ile) c.379C>A (p.Leu127Ile) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.17270963C= | CA1156179269 | PADI3 | c.916C= (p.Leu306=) c.802C= (p.Leu268=) c.379C= (p.Leu127=) | |
1 | g.17270963C>G | CA338244788 | PADI3 | c.916C>G (p.Leu306Val) c.802C>G (p.Leu268Val) c.379C>G (p.Leu127Val) | gnomAD v4 |
1 | g.17270963C>T | CA416656158 | PADI3 | c.916C>T (p.Leu306=) c.802C>T (p.Leu268=) c.379C>T (p.Leu127=) | |
1 | g.17270964T>A | CA338244793 | PADI3 | c.917T>A (p.Leu306Gln) c.803T>A (p.Leu268Gln) c.380T>A (p.Leu127Gln) | |
1 | g.17270964T>C | CA338244798 | PADI3 | c.917T>C (p.Leu306Pro) c.803T>C (p.Leu268Pro) c.380T>C (p.Leu127Pro) | |
1 | g.17270964T>G | CA338244799 | PADI3 | c.917T>G (p.Leu306Arg) c.803T>G (p.Leu268Arg) c.380T>G (p.Leu127Arg) | |
1 | g.17270965A>C | CA416656164 | PADI3 | c.918A>C (p.Leu306=) c.804A>C (p.Leu268=) c.381A>C (p.Leu127=) | |
1 | g.17270965A>G | CA416656165 | PADI3 | c.918A>G (p.Leu306=) c.804A>G (p.Leu268=) c.381A>G (p.Leu127=) | |
1 | g.17270965A>T | CA416656167 | PADI3 | c.918A>T (p.Leu306=) c.804A>T (p.Leu268=) c.381A>T (p.Leu127=) | |
1 | g.17270966G>A | CA18650788 | PADI3 | c.919G>A (p.Glu307Lys) c.805G>A (p.Glu269Lys) c.382G>A (p.Glu128Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.17270966G>C | CA338244808 | PADI3 | c.919G>C (p.Glu307Gln) c.805G>C (p.Glu269Gln) c.382G>C (p.Glu128Gln) | gnomAD v4 |
1 | g.17270966G= | CA1142407617 | PADI3 | c.919G= (p.Glu307=) c.805G= (p.Glu269=) c.382G= (p.Glu128=) | |
1 | g.17270966G>T | CA338244805 | PADI3 | c.919G>T (p.Glu307Ter) c.805G>T (p.Glu269Ter) c.382G>T (p.Glu128Ter) | |
1 | g.17270967A= | CA1156179272 | PADI3 | c.920A= (p.Glu307=) c.806A= (p.Glu269=) c.383A= (p.Glu128=) | |
1 | g.17270967A>C | CA338244814 | PADI3 | c.920A>C (p.Glu307Ala) c.806A>C (p.Glu269Ala) c.383A>C (p.Glu128Ala) | |
1 | g.17270967A>G | CA338244834 | PADI3 | c.920A>G (p.Glu307Gly) c.806A>G (p.Glu269Gly) c.383A>G (p.Glu128Gly) | |
1 | g.17270967A>T | CA18650797 | PADI3 | c.920A>T (p.Glu307Val) c.806A>T (p.Glu269Val) c.383A>T (p.Glu128Val) | dbSNP |
1 | g.17270968G>A | CA416656178 | PADI3 | c.921G>A (p.Glu307=) c.807G>A (p.Glu269=) c.384G>A (p.Glu128=) | |
1 | g.17270968G>C | CA338244849 | PADI3 | c.921G>C (p.Glu307Asp) c.807G>C (p.Glu269Asp) c.384G>C (p.Glu128Asp) | |
1 | g.17270968G>T | CA338244853 | PADI3 | c.921G>T (p.Glu307Asp) c.807G>T (p.Glu269Asp) c.384G>T (p.Glu128Asp) | |
1 | g.17270969G>A | CA338244856 | PADI3 | c.922G>A (p.Val308Met) c.808G>A (p.Val270Met) c.385G>A (p.Val129Met) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.17270969G>C | CA639866 | PADI3 | c.922G>C (p.Val308Leu) c.808G>C (p.Val270Leu) c.385G>C (p.Val129Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.17270969G= | CA1143822283 | PADI3 | c.922G= (p.Val308=) c.808G= (p.Val270=) c.385G= (p.Val129=) | |
1 | g.17270969G>T | CA338244861 | PADI3 | c.922G>T (p.Val308Leu) c.808G>T (p.Val270Leu) c.385G>T (p.Val129Leu) | dbSNP |
1 | g.17270970T>A | CA338244873 | PADI3 | c.923T>A (p.Val308Glu) c.809T>A (p.Val270Glu) c.386T>A (p.Val129Glu) | |
1 | g.17270970T>C | CA338244876 | PADI3 | c.923T>C (p.Val308Ala) c.809T>C (p.Val270Ala) c.386T>C (p.Val129Ala) | |
1 | g.17270970T>G | CA338244878 | PADI3 | c.923T>G (p.Val308Gly) c.809T>G (p.Val270Gly) c.386T>G (p.Val129Gly) | |
1 | g.17270971G>A | CA18650804 | PADI3 | c.924G>A (p.Val308=) c.810G>A (p.Val270=) c.387G>A (p.Val129=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.17270971G>C | CA416656188 | PADI3 | c.924G>C (p.Val308=) c.810G>C (p.Val270=) c.387G>C (p.Val129=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.17270971G= | CA1156179278 | PADI3 | c.924G= (p.Val308=) c.810G= (p.Val270=) c.387G= (p.Val129=) | |
1 | g.17270971G>T | CA416656190 | PADI3 | c.924G>T (p.Val308=) c.810G>T (p.Val270=) c.387G>T (p.Val129=) | |
1 | g.17270972T>A | CA338244893 | PADI3 | c.925T>A (p.Tyr309Asn) c.811T>A (p.Tyr271Asn) c.388T>A (p.Tyr130Asn) | |
1 | g.17270972T>C | CA338244885 | PADI3 | c.925T>C (p.Tyr309His) c.811T>C (p.Tyr271His) c.388T>C (p.Tyr130His) | |
1 | g.17270972T>G | CA338244881 | PADI3 | c.925T>G (p.Tyr309Asp) c.811T>G (p.Tyr271Asp) c.388T>G (p.Tyr130Asp) | |
1 | g.17270973A>C | CA338244895 | PADI3 | c.926A>C (p.Tyr309Ser) c.812A>C (p.Tyr271Ser) c.389A>C (p.Tyr130Ser) | |
1 | g.17270973A>G | CA338244896 | PADI3 | c.926A>G (p.Tyr309Cys) c.812A>G (p.Tyr271Cys) c.389A>G (p.Tyr130Cys) | |
1 | g.17270973A>T | CA338244906 | PADI3 | c.926A>T (p.Tyr309Phe) c.812A>T (p.Tyr271Phe) c.389A>T (p.Tyr130Phe) | |
1 | g.17270974T>A | CA338244910 | PADI3 | c.927T>A (p.Tyr309Ter) c.813T>A (p.Tyr271Ter) c.390T>A (p.Tyr130Ter) | |
1 | g.17270974T>C | CA639867 | PADI3 | c.927T>C (p.Tyr309=) c.813T>C (p.Tyr271=) c.390T>C (p.Tyr130=) | dbSNP ExAC gnomAD v3 gnomAD v4 |
1 | g.17270974T>G | CA338244914 | PADI3 | c.927T>G (p.Tyr309Ter) c.813T>G (p.Tyr271Ter) c.390T>G (p.Tyr130Ter) | |
1 | g.17270974T= | CA1142330162 | PADI3 | c.927T= (p.Tyr309=) c.813T= (p.Tyr271=) c.390T= (p.Tyr130=) | |
1 | g.17270974_17270975delinsTG | CA1156179281 | PADI3 | c.927_928delinsTG (p.Tyr309=) c.813_814delinsTG (p.Tyr271=) c.390_391delinsTG (p.Tyr130=) | |
1 | g.17270975del | CA1156179286 | PADI3 | c.928del (p.Val310CysfsTer4) c.814del (p.Val272CysfsTer4) c.391del (p.Val131CysfsTer4) | dbSNP |
1 | g.17270975G>A | CA338244918 | PADI3 | c.928G>A (p.Val310Met) c.814G>A (p.Val272Met) c.391G>A (p.Val131Met) | gnomAD v4 |
1 | g.17270975G>C | CA338244924 | PADI3 | c.928G>C (p.Val310Leu) c.814G>C (p.Val272Leu) c.391G>C (p.Val131Leu) | |
1 | g.17270975G>T | CA338244927 | PADI3 | c.928G>T (p.Val310Leu) c.814G>T (p.Val272Leu) c.391G>T (p.Val131Leu) | |
1 | g.17270976T>A | CA338244951 | PADI3 | c.929T>A (p.Val310Glu) c.815T>A (p.Val272Glu) c.392T>A (p.Val131Glu) | |
1 | g.17270976T>C | CA338244954 | PADI3 | c.929T>C (p.Val310Ala) c.815T>C (p.Val272Ala) c.392T>C (p.Val131Ala) | |
1 | g.17270976T>G | CA338244958 | PADI3 | c.929T>G (p.Val310Gly) c.815T>G (p.Val272Gly) c.392T>G (p.Val131Gly) | |
1 | g.17270977G>A | CA18650825 | PADI3 | c.930G>A (p.Val310=) c.816G>A (p.Val272=) c.393G>A (p.Val131=) | dbSNP |
1 | g.17270977G>C | CA416656214 | PADI3 | c.930G>C (p.Val310=) c.816G>C (p.Val272=) c.393G>C (p.Val131=) | |
1 | g.17270977G= | CA1156179290 | PADI3 | c.930G= (p.Val310=) c.816G= (p.Val272=) c.393G= (p.Val131=) | |
1 | g.17270977G>T | CA416656212 | PADI3 | c.930G>T (p.Val310=) c.816G>T (p.Val272=) c.393G>T (p.Val131=) | COSMIC |
1 | g.17270978T>A | CA338244973 | PADI3 | c.931T>A (p.Cys311Ser) c.817T>A (p.Cys273Ser) c.394T>A (p.Cys132Ser) | |
1 | g.17270978T>C | CA338244970 | PADI3 | c.931T>C (p.Cys311Arg) c.817T>C (p.Cys273Arg) c.394T>C (p.Cys132Arg) | |
1 | g.17270978T>G | CA338244968 | PADI3 | c.931T>G (p.Cys311Gly) c.817T>G (p.Cys273Gly) c.394T>G (p.Cys132Gly) | |
1 | g.17270979G>A | CA338244977 | PADI3 | c.932G>A (p.Cys311Tyr) c.818G>A (p.Cys273Tyr) c.395G>A (p.Cys132Tyr) | dbSNP gnomAD v4 |
1 | g.17270979G>C | CA338244988 | PADI3 | c.932G>C (p.Cys311Ser) c.818G>C (p.Cys273Ser) c.395G>C (p.Cys132Ser) | |
1 | g.17270979G= | CA1156179293 | PADI3 | c.932G= (p.Cys311=) c.818G= (p.Cys273=) c.395G= (p.Cys132=) | |
1 | g.17270979G>T | CA338244983 | PADI3 | c.932G>T (p.Cys311Phe) c.818G>T (p.Cys273Phe) c.395G>T (p.Cys132Phe) | |
1 | g.17270980C>A | CA338245001 | PADI3 | c.933C>A (p.Cys311Ter) c.819C>A (p.Cys273Ter) c.396C>A (p.Cys132Ter) | gnomAD v4 |
1 | g.17270980C= | CA1156179295 | PADI3 | c.933C= (p.Cys311=) c.819C= (p.Cys273=) c.396C= (p.Cys132=) | |
1 | g.17270980C>G | CA338245003 | PADI3 | c.933C>G (p.Cys311Trp) c.819C>G (p.Cys273Trp) c.396C>G (p.Cys132Trp) | |
1 | g.17270980C>T | CA416656227 | PADI3 | c.933C>T (p.Cys311=) c.819C>T (p.Cys273=) c.396C>T (p.Cys132=) | dbSNP |
1 | g.17270981C>A | CA338245011 | PADI3 | c.934C>A (p.Arg312Ser) c.820C>A (p.Arg274Ser) c.397C>A (p.Arg133Ser) | gnomAD v4 |
1 | g.17270981C= | CA1156179299 | PADI3 | c.934C= (p.Arg312=) c.820C= (p.Arg274=) c.397C= (p.Arg133=) | |
1 | g.17270981C>G | CA338245016 | PADI3 | c.934C>G (p.Arg312Gly) c.820C>G (p.Arg274Gly) c.397C>G (p.Arg133Gly) | |
1 | g.17270981C>T | CA639868 | PADI3 | c.934C>T (p.Arg312Cys) c.820C>T (p.Arg274Cys) c.397C>T (p.Arg133Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.17270982G>A | CA639869 | PADI3 | c.935G>A (p.Arg312His) c.821G>A (p.Arg274His) c.398G>A (p.Arg133His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.17270982G>C | CA338245042 | PADI3 | c.935G>C (p.Arg312Pro) c.821G>C (p.Arg274Pro) c.398G>C (p.Arg133Pro) | |
1 | g.17270982G= | CA1156179302 | PADI3 | c.935G= (p.Arg312=) c.821G= (p.Arg274=) c.398G= (p.Arg133=) | |
1 | g.17270982G>T | CA338245063 | PADI3 | c.935G>T (p.Arg312Leu) c.821G>T (p.Arg274Leu) c.398G>T (p.Arg133Leu) | gnomAD v4 |
1 | g.17270983G>A | CA338245067 | PADI3 | c.935+1G>A (n.935+1G>A) c.821+1G>A (n.821+1G>A) c.398+1G>A (n.398+1G>A) | |
1 | g.17270983G>C | CA338245068 | PADI3 | c.935+1G>C (n.935+1G>C) c.821+1G>C (n.821+1G>C) c.398+1G>C (n.398+1G>C) | |
1 | g.17270983G>T | CA338245071 | PADI3 | c.935+1G>T (n.935+1G>T) c.821+1G>T (n.821+1G>T) c.398+1G>T (n.398+1G>T) | |
1 | g.17270984T>A | CA338245077 | PADI3 | c.935+2T>A (n.935+2T>A) c.821+2T>A (n.821+2T>A) c.398+2T>A (n.398+2T>A) | |
1 | g.17270984T>C | CA338245076 | PADI3 | c.935+2T>C (n.935+2T>C) c.821+2T>C (n.821+2T>C) c.398+2T>C (n.398+2T>C) | |
1 | g.17270984T>G | CA338245074 | PADI3 | c.935+2T>G (n.935+2T>G) c.821+2T>G (n.821+2T>G) c.398+2T>G (n.398+2T>G) | |
1 | g.17270985G>A | CA1156179304 | PADI3 | c.935+3G>A (n.935+3G>A) c.821+3G>A (n.821+3G>A) c.398+3G>A (n.398+3G>A) | dbSNP |
1 | g.17270985G= | CA1156179303 | PADI3 | c.935+3G= (n.935+3G=) c.821+3G= (n.821+3G=) c.398+3G= (n.398+3G=) | |
1 | g.17270987G>A | CA521450124 | PADI3 | c.935+5G>A (n.935+5G>A) c.821+5G>A (n.821+5G>A) c.398+5G>A (n.398+5G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.17270987G>C | CA1156179307 | PADI3 | c.935+5G>C (n.935+5G>C) c.821+5G>C (n.821+5G>C) c.398+5G>C (n.398+5G>C) | dbSNP |
1 | g.17270987G= | CA1156179305 | PADI3 | c.935+5G= (n.935+5G=) c.821+5G= (n.821+5G=) c.398+5G= (n.398+5G=) | |
1 | g.17270988T>C | CA2643691532 | PADI3 | c.935+6T>C (n.935+6T>C) c.821+6T>C (n.821+6T>C) c.398+6T>C (n.398+6T>C) | gnomAD v4 |
1 | g.17270989C>A | CA2643691533 | PADI3 | c.935+7C>A (n.935+7C>A) c.821+7C>A (n.821+7C>A) c.398+7C>A (n.398+7C>A) | gnomAD v4 |
1 | g.17270989C= | CA1156179309 | PADI3 | c.935+7C= (n.935+7C=) c.821+7C= (n.821+7C=) c.398+7C= (n.398+7C=) | |
1 | g.17270989C>G | CA521450125 | PADI3 | c.935+7C>G (n.935+7C>G) c.821+7C>G (n.821+7C>G) c.398+7C>G (n.398+7C>G) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.17270990T>C | CA639870 | PADI3 | c.935+8T>C (n.935+8T>C) c.821+8T>C (n.821+8T>C) c.398+8T>C (n.398+8T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.17270990T= | CA1156179310 | PADI3 | c.935+8T= (n.935+8T=) c.821+8T= (n.821+8T=) c.398+8T= (n.398+8T=) | |
1 | g.17270992G>A | CA2643691534 | PADI3 | c.935+10G>A (n.935+10G>A) c.821+10G>A (n.821+10G>A) c.398+10G>A (n.398+10G>A) | gnomAD v4 |
1 | g.17270995del | CA2574237760 | PADI3 | c.935+13del (n.935+13del) c.821+13del (n.821+13del) c.398+13del (n.398+13del) | |
1 | g.17270993G>A | CA639871 | PADI3 | c.935+11G>A (n.935+11G>A) c.821+11G>A (n.821+11G>A) c.398+11G>A (n.398+11G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.17270993G= | CA1144069333 | PADI3 | c.935+11G= (n.935+11G=) c.821+11G= (n.821+11G=) c.398+11G= (n.398+11G=) | |
1 | g.17270995G>A | CA521450126 | PADI3 | c.935+13G>A (n.935+13G>A) c.821+13G>A (n.821+13G>A) c.398+13G>A (n.398+13G>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.17270995G= | CA1156179314 | PADI3 | c.935+13G= (n.935+13G=) c.821+13G= (n.821+13G=) c.398+13G= (n.398+13G=) | |
1 | g.17270996C>A | CA639872 | PADI3 | c.935+14C>A (n.935+14C>A) c.821+14C>A (n.821+14C>A) c.398+14C>A (n.398+14C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.17270996C= | CA1156179316 | PADI3 | c.935+14C= (n.935+14C=) c.821+14C= (n.821+14C=) c.398+14C= (n.398+14C=) | |
1 | g.17270996C>T | CA2643691535 | PADI3 | c.935+14C>T (n.935+14C>T) c.821+14C>T (n.821+14C>T) c.398+14C>T (n.398+14C>T) | gnomAD v4 |
1 | g.17270999T>C | CA2574237762 | PADI3 | c.935+17T>C (n.935+17T>C) c.821+17T>C (n.821+17T>C) c.398+17T>C (n.398+17T>C) | |
1 | g.17270999T>G | CA2643691536 | PADI3 | c.935+17T>G (n.935+17T>G) c.821+17T>G (n.821+17T>G) c.398+17T>G (n.398+17T>G) | gnomAD v4 |
1 | g.17271000G>A | CA1156179319 | PADI3 | c.935+18G>A (n.935+18G>A) c.821+18G>A (n.821+18G>A) c.398+18G>A (n.398+18G>A) | dbSNP |
1 | g.17271000G>C | CA891201766 | PADI3 | c.935+18G>C (n.935+18G>C) c.821+18G>C (n.821+18G>C) c.398+18G>C (n.398+18G>C) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.17271000G= | CA1156179317 | PADI3 | c.935+18G= (n.935+18G=) c.821+18G= (n.821+18G=) c.398+18G= (n.398+18G=) | |
1 | g.17271000G>T | CA2574237764 | PADI3 | c.935+18G>T (n.935+18G>T) c.821+18G>T (n.821+18G>T) c.398+18G>T (n.398+18G>T) | |
1 | g.17271001G>A | CA2643691537 | PADI3 | c.935+19G>A (n.935+19G>A) c.821+19G>A (n.821+19G>A) c.398+19G>A (n.398+19G>A) | gnomAD v4 |
1 | g.17271001G>C | CA2643691538 | PADI3 | c.935+19G>C (n.935+19G>C) c.821+19G>C (n.821+19G>C) c.398+19G>C (n.398+19G>C) | gnomAD v4 |
1 | g.17271001G>T | CA2742646693 | PADI3 | c.935+19G>T (n.935+19G>T) c.821+19G>T (n.821+19G>T) c.398+19G>T (n.398+19G>T) | |
1 | g.17271002G>A | CA2643691539 | PADI3 | c.935+20G>A (n.935+20G>A) c.821+20G>A (n.821+20G>A) c.398+20G>A (n.398+20G>A) | gnomAD v4 |
1 | g.17271004G>A | CA521450128 | PADI3 | c.935+22G>A (n.935+22G>A) c.821+22G>A (n.821+22G>A) c.398+22G>A (n.398+22G>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.17271004G= | CA1156179322 | PADI3 | c.935+22G= (n.935+22G=) c.821+22G= (n.821+22G=) c.398+22G= (n.398+22G=) | |
1 | g.17271004G>T | CA521450127 | PADI3 | c.935+22G>T (n.935+22G>T) c.821+22G>T (n.821+22G>T) c.398+22G>T (n.398+22G>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.17271005G>C | CA639873 | PADI3 | c.935+23G>C (n.935+23G>C) c.821+23G>C (n.821+23G>C) c.398+23G>C (n.398+23G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.17271005G= | CA1143984333 | PADI3 | c.935+23G= (n.935+23G=) c.821+23G= (n.821+23G=) c.398+23G= (n.398+23G=) | |
1 | g.17271006T>G | CA1156179329 | PADI3 | c.935+24T>G (n.935+24T>G) c.821+24T>G (n.821+24T>G) c.398+24T>G (n.398+24T>G) | dbSNP |
1 | g.17271006T= | CA1156179328 | PADI3 | c.935+24T= (n.935+24T=) c.821+24T= (n.821+24T=) c.398+24T= (n.398+24T=) | |
1 | g.17271007C= | CA1156179330 | PADI3 | c.935+25C= (n.935+25C=) c.821+25C= (n.821+25C=) c.398+25C= (n.398+25C=) | |
1 | g.17271007C>T | CA521450129 | PADI3 | c.935+25C>T (n.935+25C>T) c.821+25C>T (n.821+25C>T) c.398+25C>T (n.398+25C>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.17271009C>T | CA2643691540 | PADI3 | c.935+27C>T (n.935+27C>T) c.821+27C>T (n.821+27C>T) c.398+27C>T (n.398+27C>T) | gnomAD v4 |
1 | g.17271010T>A | CA2643691541 | PADI3 | c.935+28T>A (n.935+28T>A) c.821+28T>A (n.821+28T>A) c.398+28T>A (n.398+28T>A) | gnomAD v4 |
1 | g.17271011C= | CA1156179332 | PADI3 | c.935+29C= (n.935+29C=) c.821+29C= (n.821+29C=) c.398+29C= (n.398+29C=) | |
1 | g.17271011C>G | CA639874 | PADI3 | c.935+29C>G (n.935+29C>G) c.821+29C>G (n.821+29C>G) c.398+29C>G (n.398+29C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.17271012T>C | CA639875 | PADI3 | c.935+30T>C (n.935+30T>C) c.821+30T>C (n.821+30T>C) c.398+30T>C (n.398+30T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.17271012T= | CA1143660260 | PADI3 | c.935+30T= (n.935+30T=) c.821+30T= (n.821+30T=) c.398+30T= (n.398+30T=) | |
1 | g.17271014G>A | CA891201774 | PADI3 | c.935+32G>A (n.935+32G>A) c.821+32G>A (n.821+32G>A) c.398+32G>A (n.398+32G>A) | dbSNP |
1 | g.17271014G>C | CA2643691543 | PADI3 | c.935+32G>C (n.935+32G>C) c.821+32G>C (n.821+32G>C) c.398+32G>C (n.398+32G>C) | gnomAD v4 |
1 | g.17271014G= | CA1156179337 | PADI3 | c.935+32G= (n.935+32G=) c.821+32G= (n.821+32G=) c.398+32G= (n.398+32G=) | |
1 | g.17271015C= | CA1143895440 | PADI3 | c.935+33C= (n.935+33C=) c.821+33C= (n.821+33C=) c.398+33C= (n.398+33C=) | |
1 | g.17271015C>T | CA639876 | PADI3 | c.935+33C>T (n.935+33C>T) c.821+33C>T (n.821+33C>T) c.398+33C>T (n.398+33C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.17271019dup | CA2742646698 | PADI3 | c.935+37dup (n.935+37dup) c.821+37dup (n.821+37dup) c.398+37dup (n.398+37dup) | |
1 | g.17271019del | CA2574237770 | PADI3 | c.935+37del (n.935+37del) c.821+37del (n.821+37del) c.398+37del (n.398+37del) | gnomAD v4 |
1 | g.17271015_17271022delinsCCCCCAGG | CA1156179341 | PADI3 | c.935+33_935+40delinsCCCCCAGG (n.935+33_935+40delinsCCCCCAGG) c.821+33_821+40delinsCCCCCAGG (n.821+33_821+40delinsCCCCCAGG) c.398+33_398+40delinsCCCCCAGG (n.398+33_398+40delinsCCCCCAGG) | |
1 | g.17271016C= | CA1156179344 | PADI3 | c.935+34C= (n.935+34C=) c.821+34C= (n.821+34C=) c.398+34C= (n.398+34C=) | |
1 | g.17271016C>G | CA2643691545 | PADI3 | c.935+34C>G (n.935+34C>G) c.821+34C>G (n.821+34C>G) c.398+34C>G (n.398+34C>G) | gnomAD v4 |
1 | g.17271016C>T | CA891201781 | PADI3 | c.935+34C>T (n.935+34C>T) c.821+34C>T (n.821+34C>T) c.398+34C>T (n.398+34C>T) | dbSNP |
1 | g.17271020_17271026del | CA639877 | PADI3 | c.935+38_936-41del (n.935+38_936-41del) c.821+38_822-41del (n.821+38_822-41del) c.398+38_399-41del (n.398+38_399-41del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.17271017C>G | CA2643691546 | PADI3 | c.935+35C>G (n.935+35C>G) c.821+35C>G (n.821+35C>G) c.398+35C>G (n.398+35C>G) | gnomAD v4 |
1 | g.17271017C>T | CA2643691547 | PADI3 | c.935+35C>T (n.935+35C>T) c.821+35C>T (n.821+35C>T) c.398+35C>T (n.398+35C>T) | gnomAD v4 |
1 | g.17271019C>T | CA2643691548 | PADI3 | c.935+37C>T (n.935+37C>T) c.821+37C>T (n.821+37C>T) c.398+37C>T (n.398+37C>T) | gnomAD v4 |
1 | g.17271020A= | CA1156179347 | PADI3 | c.935+38A= (n.935+38A=) c.821+38A= (n.821+38A=) c.398+38A= (n.398+38A=) | |
1 | g.17271020A>C | CA999110713 | PADI3 | c.935+38A>C (n.935+38A>C) c.821+38A>C (n.821+38A>C) c.398+38A>C (n.398+38A>C) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.17271020A>G | CA2643691549 | PADI3 | c.935+38A>G (n.935+38A>G) c.821+38A>G (n.821+38A>G) c.398+38A>G (n.398+38A>G) | gnomAD v4 |
1 | g.17271021G>T | CA2574237772 | PADI3 | c.935+39G>T (n.935+39G>T) c.821+39G>T (n.821+39G>T) c.398+39G>T (n.398+39G>T) | |
1 | g.17271022G>A | CA2574237775 | PADI3 | c.935+40G>A (n.935+40G>A) c.821+40G>A (n.821+40G>A) c.398+40G>A (n.398+40G>A) | gnomAD v4 |
1 | g.17271022G>C | CA999110717 | PADI3 | c.935+40G>C (n.935+40G>C) c.821+40G>C (n.821+40G>C) c.398+40G>C (n.398+40G>C) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.17271022G= | CA1156179349 | PADI3 | c.935+40G= (n.935+40G=) c.821+40G= (n.821+40G=) c.398+40G= (n.398+40G=) | |
1 | g.17271023C= | CA1149051514 | PADI3 | c.935+41C= (n.935+41C=) c.821+41C= (n.821+41C=) c.398+41C= (n.398+41C=) | |
1 | g.17271023C>G | CA2643691551 | PADI3 | c.935+41C>G (n.935+41C>G) c.821+41C>G (n.821+41C>G) c.398+41C>G (n.398+41C>G) | gnomAD v4 |
1 | g.17271023C>T | CA639878 | PADI3 | c.935+41C>T (n.935+41C>T) c.821+41C>T (n.821+41C>T) c.398+41C>T (n.398+41C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.17271026del | CA2643691550 | PADI3 | c.936-41del (n.936-41del) c.822-41del (n.822-41del) c.399-41del (n.399-41del) | gnomAD v4 |
1 | g.17271024C= | CA1156179352 | PADI3 | c.936-43C= (n.936-43C=) c.822-43C= (n.822-43C=) c.399-43C= (n.399-43C=) | |
1 | g.17271024C>T | CA1156179353 | PADI3 | c.936-43C>T (n.936-43C>T) c.822-43C>T (n.822-43C>T) c.399-43C>T (n.399-43C>T) | dbSNP |
1 | g.17271026C>A | CA2643691552 | PADI3 | c.936-41C>A (n.936-41C>A) c.822-41C>A (n.822-41C>A) c.399-41C>A (n.399-41C>A) | gnomAD v4 |
1 | g.17271026C= | CA1144162148 | PADI3 | c.936-41C= (n.936-41C=) c.822-41C= (n.822-41C=) c.399-41C= (n.399-41C=) | |
1 | g.17271026C>G | CA639879 | PADI3 | c.936-41C>G (n.936-41C>G) c.822-41C>G (n.822-41C>G) c.399-41C>G (n.399-41C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.17271026C>T | CA639880 | PADI3 | c.936-41C>T (n.936-41C>T) c.822-41C>T (n.822-41C>T) c.399-41C>T (n.399-41C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.17271027G>A | CA639881 | PADI3 | c.936-40G>A (n.936-40G>A) c.822-40G>A (n.822-40G>A) c.399-40G>A (n.399-40G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.17271027G= | CA1143632601 | PADI3 | c.936-40G= (n.936-40G=) c.822-40G= (n.822-40G=) c.399-40G= (n.399-40G=) | |
1 | g.17271027G>T | CA521450130 | PADI3 | c.936-40G>T (n.936-40G>T) c.822-40G>T (n.822-40G>T) c.399-40G>T (n.399-40G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |