Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.17793476_17793493del | CA2636388222 | RAI1 | c.528_545del (p.Pro177_Pro182del) | gnomAD v4 |
17 | g.17793470G>A | CA498422722 | RAI1 | c.522G>A (p.Gln174=) | |
17 | g.17793470G>C | CA398545641 | RAI1 | c.522G>C (p.Gln174His) | |
17 | g.17793470G>T | CA398545642 | RAI1 | c.522G>T (p.Gln174His) | |
17 | g.17793471C>A | CA398545643 | RAI1 | c.523C>A (p.Gln175Lys) | |
17 | g.17793471C>G | CA398545644 | RAI1 | c.523C>G (p.Gln175Glu) | |
17 | g.17793471C>T | CA398545645 | RAI1 | c.523C>T (p.Gln175Ter) | gnomAD v4 |
17 | g.17793472A>C | CA398545646 | RAI1 | c.524A>C (p.Gln175Pro) | |
17 | g.17793472A>G | CA398545647 | RAI1 | c.524A>G (p.Gln175Arg) | gnomAD v4 |
17 | g.17793472A>T | CA398545648 | RAI1 | c.524A>T (p.Gln175Leu) | |
17 | g.17793473G>A | CA498422726 | RAI1 | c.525G>A (p.Gln175=) | |
17 | g.17793473G>C | CA398545649 | RAI1 | c.525G>C (p.Gln175His) | dbSNP gnomAD v2 |
17 | g.17793473G= | CA2250666078 | RAI1 | c.525G= (p.Gln175=) | |
17 | g.17793473G>T | CA398545650 | RAI1 | c.525G>T (p.Gln175His) | |
17 | g.17793474C>A | CA398545651 | RAI1 | c.526C>A (p.Pro176Thr) | |
17 | g.17793474C>G | CA398545652 | RAI1 | c.526C>G (p.Pro176Ala) | |
17 | g.17793474C>T | CA398545653 | RAI1 | c.526C>T (p.Pro176Ser) | |
17 | g.17793475C>A | CA398545654 | RAI1 | c.527C>A (p.Pro176Gln) | |
17 | g.17793475C>G | CA398545656 | RAI1 | c.527C>G (p.Pro176Arg) | |
17 | g.17793475C>T | CA398545655 | RAI1 | c.527C>T (p.Pro176Leu) | |
17 | g.17793476A>C | CA498422731 | RAI1 | c.528A>C (p.Pro176=) | gnomAD v3 gnomAD v4 |
17 | g.17793476A>G | CA498422729 | RAI1 | c.528A>G (p.Pro176=) | |
17 | g.17793476A>T | CA498422728 | RAI1 | c.528A>T (p.Pro176=) | |
17 | g.17793477C>A | CA398545657 | RAI1 | c.529C>A (p.Pro177Thr) | |
17 | g.17793477C>G | CA398545658 | RAI1 | c.529C>G (p.Pro177Ala) | |
17 | g.17793477C>T | CA398545659 | RAI1 | c.529C>T (p.Pro177Ser) | ClinVar |
17 | g.17793478C>A | CA398545660 | RAI1 | c.530C>A (p.Pro177Gln) | |
17 | g.17793478C= | CA2250666081 | RAI1 | c.530C= (p.Pro177=) | |
17 | g.17793478C>G | CA398545661 | RAI1 | c.530C>G (p.Pro177Arg) | |
17 | g.17793478C>T | CA8418143 | RAI1 | c.530C>T (p.Pro177Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.17793479G>A | CA8418144 | RAI1 | c.531G>A (p.Pro177=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.17793479G>C | CA498422735 | RAI1 | c.531G>C (p.Pro177=) | |
17 | g.17793479G= | CA2250666088 | RAI1 | c.531G= (p.Pro177=) | |
17 | g.17793479G>T | CA498422733 | RAI1 | c.531G>T (p.Pro177=) | gnomAD v4 |
17 | g.17793480C>A | CA398545662 | RAI1 | c.532C>A (p.Pro178Thr) | |
17 | g.17793480C>G | CA398545663 | RAI1 | c.532C>G (p.Pro178Ala) | |
17 | g.17793480C>T | CA398545664 | RAI1 | c.532C>T (p.Pro178Ser) | |
17 | g.17793481C>A | CA398545666 | RAI1 | c.533C>A (p.Pro178Gln) | |
17 | g.17793481C= | CA2250666092 | RAI1 | c.533C= (p.Pro178=) | |
17 | g.17793481C>G | CA398545665 | RAI1 | c.533C>G (p.Pro178Arg) | |
17 | g.17793481C>T | CA8418145 | RAI1 | c.533C>T (p.Pro178Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.17793482G>A | CA8418146 | RAI1 | c.534G>A (p.Pro178=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.17793482G>C | CA8418147 | RAI1 | c.534G>C (p.Pro178=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.17793482G= | CA2250666098 | RAI1 | c.534G= (p.Pro178=) | |
17 | g.17793482G>T | CA498422738 | RAI1 | c.534G>T (p.Pro178=) | |
17 | g.17793483C>A | CA398545669 | RAI1 | c.535C>A (p.Pro179Thr) | |
17 | g.17793483C>G | CA398545667 | RAI1 | c.535C>G (p.Pro179Ala) | |
17 | g.17793483C>T | CA398545668 | RAI1 | c.535C>T (p.Pro179Ser) | |
17 | g.17793484C>A | CA398545670 | RAI1 | c.536C>A (p.Pro179His) | |
17 | g.17793484C= | CA2250666104 | RAI1 | c.536C= (p.Pro179=) | |
17 | g.17793484C>G | CA398545671 | RAI1 | c.536C>G (p.Pro179Arg) | |
17 | g.17793484C>T | CA398545672 | RAI1 | c.536C>T (p.Pro179Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.17793485C>A | CA498422739 | RAI1 | c.537C>A (p.Pro179=) | |
17 | g.17793485C= | CA2250666110 | RAI1 | c.537C= (p.Pro179=) | |
17 | g.17793485C>G | CA498422740 | RAI1 | c.537C>G (p.Pro179=) | |
17 | g.17793485C>T | CA8418148 | RAI1 | c.537C>T (p.Pro179=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.17793486C>A | CA398545675 | RAI1 | c.538C>A (p.Gln180Lys) | |
17 | g.17793486C>G | CA398545673 | RAI1 | c.538C>G (p.Gln180Glu) | |
17 | g.17793486C>T | CA398545674 | RAI1 | c.538C>T (p.Gln180Ter) | |
17 | g.17793487A= | CA2250666114 | RAI1 | c.539A= (p.Gln180=) | |
17 | g.17793487A>C | CA398545676 | RAI1 | c.539A>C (p.Gln180Pro) | |
17 | g.17793487A>G | CA398545677 | RAI1 | c.539A>G (p.Gln180Arg) | dbSNP |
17 | g.17793487A>T | CA8418149 | RAI1 | c.539A>T (p.Gln180Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.17793488G>A | CA498422741 | RAI1 | c.540G>A (p.Gln180=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.17793488G>C | CA398545678 | RAI1 | c.540G>C (p.Gln180His) | |
17 | g.17793488G= | CA2250666121 | RAI1 | c.540G= (p.Gln180=) | |
17 | g.17793488G>T | CA398545679 | RAI1 | c.540G>T (p.Gln180His) | |
17 | g.17793489C>A | CA398545680 | RAI1 | c.541C>A (p.Gln181Lys) | |
17 | g.17793489C>G | CA398545682 | RAI1 | c.541C>G (p.Gln181Glu) | |
17 | g.17793489C>T | CA398545681 | RAI1 | c.541C>T (p.Gln181Ter) | |
17 | g.17793490A>C | CA398545683 | RAI1 | c.542A>C (p.Gln181Pro) | |
17 | g.17793490A>G | CA398545684 | RAI1 | c.542A>G (p.Gln181Arg) | |
17 | g.17793490A>T | CA398545685 | RAI1 | c.542A>T (p.Gln181Leu) | |
17 | g.17793491G>A | CA498422742 | RAI1 | c.543G>A (p.Gln181=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.17793491G>C | CA398545686 | RAI1 | c.543G>C (p.Gln181His) | |
17 | g.17793491G= | CA2250666126 | RAI1 | c.543G= (p.Gln181=) | |
17 | g.17793491G>T | CA398545687 | RAI1 | c.543G>T (p.Gln181His) | ClinVar |
17 | g.17793492C>A | CA398545688 | RAI1 | c.544C>A (p.Pro182Thr) | |
17 | g.17793492C= | CA2250666130 | RAI1 | c.544C= (p.Pro182=) | |
17 | g.17793492C>G | CA398545689 | RAI1 | c.544C>G (p.Pro182Ala) | |
17 | g.17793492C>T | CA288367124 | RAI1 | c.544C>T (p.Pro182Ser) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.17793493C>A | CA398545690 | RAI1 | c.545C>A (p.Pro182His) | |
17 | g.17793493C= | CA2250666139 | RAI1 | c.545C= (p.Pro182=) | |
17 | g.17793493C>G | CA398545691 | RAI1 | c.545C>G (p.Pro182Arg) | dbSNP gnomAD v4 |
17 | g.17793493C>T | CA398545692 | RAI1 | c.545C>T (p.Pro182Leu) | ClinVar dbSNP |
17 | g.17793493_17793494insGATGCCGCGGCTGTACAGCAGGTAGTTGGGGTTGAGCTGATACAGGTTGGGCGCCTTGTAGGCCCGGGCCACGCCGGCTTTCAGGGTGATTTCGCGCGTGAGGTTGTGCGACAGGTTCAGCGAGGGGCT | CA2513467606 | RAI1 | c.545_546insGATGCCGCGGCTGTACAGCAGGTAGTTGGGGTTGAGCTGATACAGGTTGGGCGCCTTGTAGGCCCGGGCCACGCCGGCTTTCAGGGTGATTTCGCGCGTGAGGTTGTGCGACAGGTTCAGCGAGGGGCT (p.Pro183MetfsTer8) | |
17 | g.17793494C>A | CA498422743 | RAI1 | c.546C>A (p.Pro182=) | gnomAD v4 |
17 | g.17793494C= | CA2250666149 | RAI1 | c.546C= (p.Pro182=) | |
17 | g.17793494C>G | CA498422744 | RAI1 | c.546C>G (p.Pro182=) | |
17 | g.17793494C>T | CA288367127 | RAI1 | c.546C>T (p.Pro182=) | dbSNP |
17 | g.17793495C>A | CA398545693 | RAI1 | c.547C>A (p.Leu183Met) | |
17 | g.17793495C>G | CA398545694 | RAI1 | c.547C>G (p.Leu183Val) | |
17 | g.17793495C>T | CA498422745 | RAI1 | c.547C>T (p.Leu183=) | |
17 | g.17793496del | CA2695224466 | RAI1 | c.548del (p.Leu183ArgfsTer?) | |
17 | g.17793496T>A | CA398545695 | RAI1 | c.548T>A (p.Leu183Gln) | |
17 | g.17793496T>C | CA398545696 | RAI1 | c.548T>C (p.Leu183Pro) | |
17 | g.17793496T>G | CA398545697 | RAI1 | c.548T>G (p.Leu183Arg) | dbSNP gnomAD v4 |
17 | g.17793497G>A | CA8418150 | RAI1 | c.549G>A (p.Leu183=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.17793497G>C | CA498422750 | RAI1 | c.549G>C (p.Leu183=) | |
17 | g.17793497G= | CA2250666153 | RAI1 | c.549G= (p.Leu183=) | |
17 | g.17793497G>T | CA498422749 | RAI1 | c.549G>T (p.Leu183=) | |
17 | g.17793498G>A | CA398545698 | RAI1 | c.550G>A (p.Ala184Thr) | |
17 | g.17793498G>C | CA398545699 | RAI1 | c.550G>C (p.Ala184Pro) | |
17 | g.17793498G>T | CA398545700 | RAI1 | c.550G>T (p.Ala184Ser) | |
17 | g.17793499C>A | CA398545701 | RAI1 | c.551C>A (p.Ala184Glu) | dbSNP |
17 | g.17793499C= | CA2250666161 | RAI1 | c.551C= (p.Ala184=) | |
17 | g.17793499C>G | CA398545703 | RAI1 | c.551C>G (p.Ala184Gly) | |
17 | g.17793499C>T | CA398545705 | RAI1 | c.551C>T (p.Ala184Val) | |
17 | g.17793500A= | CA2250666162 | RAI1 | c.552A= (p.Ala184=) | |
17 | g.17793500A>C | CA498422756 | RAI1 | c.552A>C (p.Ala184=) | |
17 | g.17793500A>G | CA498422754 | RAI1 | c.552A>G (p.Ala184=) | dbSNP gnomAD v4 |
17 | g.17793500A>T | CA498422755 | RAI1 | c.552A>T (p.Ala184=) | |
17 | g.17793501T>A | CA398545706 | RAI1 | c.553T>A (p.Tyr185Asn) | |
17 | g.17793501T>C | CA398545707 | RAI1 | c.553T>C (p.Tyr185His) | |
17 | g.17793501T>G | CA398545708 | RAI1 | c.553T>G (p.Tyr185Asp) | |
17 | g.17793502A>C | CA398545711 | RAI1 | c.554A>C (p.Tyr185Ser) | |
17 | g.17793502A>G | CA398545709 | RAI1 | c.554A>G (p.Tyr185Cys) | ClinVar |
17 | g.17793502A>T | CA398545710 | RAI1 | c.554A>T (p.Tyr185Phe) | |
17 | g.17793503C>A | CA398545713 | RAI1 | c.555C>A (p.Tyr185Ter) | |
17 | g.17793503C= | CA2250666164 | RAI1 | c.555C= (p.Tyr185=) | |
17 | g.17793503C>G | CA398545714 | RAI1 | c.555C>G (p.Tyr185Ter) | |
17 | g.17793503C>T | CA8418151 | RAI1 | c.555C>T (p.Tyr185=) | dbSNP ExAC gnomAD v2 |
17 | g.17793504C>A | CA398545715 | RAI1 | c.556C>A (p.Pro186Thr) | |
17 | g.17793504C>G | CA398545716 | RAI1 | c.556C>G (p.Pro186Ala) | |
17 | g.17793504C>T | CA398545717 | RAI1 | c.556C>T (p.Pro186Ser) | gnomAD v4 |
17 | g.17793505C>A | CA398545718 | RAI1 | c.557C>A (p.Pro186His) | |
17 | g.17793505C= | CA2250666170 | RAI1 | c.557C= (p.Pro186=) | |
17 | g.17793505C>G | CA398545719 | RAI1 | c.557C>G (p.Pro186Arg) | |
17 | g.17793505C>T | CA8418152 | RAI1 | c.557C>T (p.Pro186Leu) | dbSNP ExAC gnomAD v2 |
17 | g.17793506C>A | CA498422760 | RAI1 | c.558C>A (p.Pro186=) | |
17 | g.17793506C>G | CA498422761 | RAI1 | c.558C>G (p.Pro186=) | |
17 | g.17793506C>T | CA498422762 | RAI1 | c.558C>T (p.Pro186=) | ClinVar gnomAD v4 |
17 | g.17793507A>C | CA398545720 | RAI1 | c.559A>C (p.Lys187Gln) | |
17 | g.17793507A>G | CA398545721 | RAI1 | c.559A>G (p.Lys187Glu) | ClinVar dbSNP |
17 | g.17793507A>T | CA398545722 | RAI1 | c.559A>T (p.Lys187Ter) | |
17 | g.17793508A= | CA2250666174 | RAI1 | c.560A= (p.Lys187=) | |
17 | g.17793508A>C | CA398545724 | RAI1 | c.560A>C (p.Lys187Thr) | |
17 | g.17793508A>G | CA8418153 | RAI1 | c.560A>G (p.Lys187Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.17793508A>T | CA398545723 | RAI1 | c.560A>T (p.Lys187Met) | |
17 | g.17793509G>A | CA498422765 | RAI1 | c.561G>A (p.Lys187=) | gnomAD v4 |
17 | g.17793509G>C | CA398545725 | RAI1 | c.561G>C (p.Lys187Asn) | |
17 | g.17793509G>T | CA398545726 | RAI1 | c.561G>T (p.Lys187Asn) | gnomAD v4 |
17 | g.17793510C>A | CA398545727 | RAI1 | c.562C>A (p.Leu188Ile) | |
17 | g.17793510C= | CA2250666177 | RAI1 | c.562C= (p.Leu188=) | |
17 | g.17793510C>G | CA398545729 | RAI1 | c.562C>G (p.Leu188Val) | dbSNP |
17 | g.17793510C>T | CA398545728 | RAI1 | c.562C>T (p.Leu188Phe) | dbSNP |
17 | g.17793511T>A | CA398545730 | RAI1 | c.563T>A (p.Leu188His) | |
17 | g.17793511T>C | CA398545732 | RAI1 | c.563T>C (p.Leu188Pro) | |
17 | g.17793511T>G | CA398545731 | RAI1 | c.563T>G (p.Leu188Arg) | |
17 | g.17793512C>A | CA498422770 | RAI1 | c.564C>A (p.Leu188=) | |
17 | g.17793512C>G | CA498422772 | RAI1 | c.564C>G (p.Leu188=) | |
17 | g.17793512C>T | CA498422773 | RAI1 | c.564C>T (p.Leu188=) | |
17 | g.17793513C>A | CA398545734 | RAI1 | c.565C>A (p.Gln189Lys) | |
17 | g.17793513C>G | CA398545736 | RAI1 | c.565C>G (p.Gln189Glu) | |
17 | g.17793513C>T | CA398545737 | RAI1 | c.565C>T (p.Gln189Ter) | |
17 | g.17793514A>C | CA398545738 | RAI1 | c.566A>C (p.Gln189Pro) | |
17 | g.17793514A>G | CA398545739 | RAI1 | c.566A>G (p.Gln189Arg) | |
17 | g.17793514A>T | CA398545740 | RAI1 | c.566A>T (p.Gln189Leu) | |
17 | g.17793515A= | CA2250666180 | RAI1 | c.567A= (p.Gln189=) | |
17 | g.17793515A>C | CA8418154 | RAI1 | c.567A>C (p.Gln189His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.17793515A>G | CA498422777 | RAI1 | c.567A>G (p.Gln189=) | |
17 | g.17793515A>T | CA398545741 | RAI1 | c.567A>T (p.Gln189His) | |
17 | g.17793516A>C | CA498422780 | RAI1 | c.568A>C (p.Arg190=) | gnomAD v4 |
17 | g.17793516A>G | CA398545742 | RAI1 | c.568A>G (p.Arg190Gly) | |
17 | g.17793516A>T | CA398545743 | RAI1 | c.568A>T (p.Arg190Trp) | |
17 | g.17793517G>A | CA398545746 | RAI1 | c.569G>A (p.Arg190Lys) | gnomAD v4 |
17 | g.17793517G>C | CA398545744 | RAI1 | c.569G>C (p.Arg190Thr) | |
17 | g.17793517G>T | CA398545745 | RAI1 | c.569G>T (p.Arg190Met) | |
17 | g.17793518G>A | CA498422782 | RAI1 | c.570G>A (p.Arg190=) | |
17 | g.17793518G>C | CA398545747 | RAI1 | c.570G>C (p.Arg190Ser) | |
17 | g.17793518G= | CA2250666183 | RAI1 | c.570G= (p.Arg190=) | |
17 | g.17793518G>T | CA398545748 | RAI1 | c.570G>T (p.Arg190Ser) | dbSNP gnomAD v4 |
17 | g.17793519C>A | CA398545749 | RAI1 | c.571C>A (p.Gln191Lys) | |
17 | g.17793519C>G | CA398545750 | RAI1 | c.571C>G (p.Gln191Glu) | |
17 | g.17793519C>T | CA398545751 | RAI1 | c.571C>T (p.Gln191Ter) | |
17 | g.17793520A>C | CA398545752 | RAI1 | c.572A>C (p.Gln191Pro) | |
17 | g.17793520A>G | CA398545753 | RAI1 | c.572A>G (p.Gln191Arg) | |
17 | g.17793520A>T | CA398545754 | RAI1 | c.572A>T (p.Gln191Leu) | |
17 | g.17793520_17793521delinsAG | CA2250666188 | RAI1 | c.572_573delinsAG (p.Gln191=) | |
17 | g.17793521G>A | CA498422785 | RAI1 | c.573G>A (p.Gln191=) | gnomAD v4 |
17 | g.17793521G>C | CA398545755 | RAI1 | c.573G>C (p.Gln191His) | |
17 | g.17793521G>T | CA398545756 | RAI1 | c.573G>T (p.Gln191His) | |
17 | g.17793521delinsTACCCC | CA1139665263 | RAI1 | c.573delinsTACCCC (p.Gln191HisfsTer?) | ClinVar dbSNP |
17 | g.17793522A>C | CA398545758 | RAI1 | c.574A>C (p.Lys192Gln) | |
17 | g.17793522A>G | CA398545759 | RAI1 | c.574A>G (p.Lys192Glu) | |
17 | g.17793522A>T | CA398545757 | RAI1 | c.574A>T (p.Lys192Ter) | |
17 | g.17793523A>C | CA398545760 | RAI1 | c.575A>C (p.Lys192Thr) | |
17 | g.17793523A>G | CA398545761 | RAI1 | c.575A>G (p.Lys192Arg) | |
17 | g.17793523A>T | CA398545762 | RAI1 | c.575A>T (p.Lys192Met) | |
17 | g.17793524G>A | CA498422790 | RAI1 | c.576G>A (p.Lys192=) | |
17 | g.17793524G>C | CA398545763 | RAI1 | c.576G>C (p.Lys192Asn) | |
17 | g.17793524G>T | CA398545764 | RAI1 | c.576G>T (p.Lys192Asn) | |
17 | g.17793525C>A | CA398545766 | RAI1 | c.577C>A (p.Leu193Met) | |
17 | g.17793525C>G | CA398545765 | RAI1 | c.577C>G (p.Leu193Val) | |
17 | g.17793525C>T | CA498422792 | RAI1 | c.577C>T (p.Leu193=) | |
17 | g.17793526T>A | CA398545767 | RAI1 | c.578T>A (p.Leu193Gln) | |
17 | g.17793526T>C | CA8418155 | RAI1 | c.578T>C (p.Leu193Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.17793526T>G | CA398545768 | RAI1 | c.578T>G (p.Leu193Arg) | |
17 | g.17793526T= | CA2250666207 | RAI1 | c.578T= (p.Leu193=) | |
17 | g.17793527G>A | CA498422794 | RAI1 | c.579G>A (p.Leu193=) | ClinVar gnomAD v4 |
17 | g.17793527G>C | CA498422795 | RAI1 | c.579G>C (p.Leu193=) | |
17 | g.17793527G>T | CA498422796 | RAI1 | c.579G>T (p.Leu193=) | |
17 | g.17793528C>A | CA398545769 | RAI1 | c.580C>A (p.Gln194Lys) | |
17 | g.17793528C>G | CA398545770 | RAI1 | c.580C>G (p.Gln194Glu) | |
17 | g.17793528C>T | CA398545771 | RAI1 | c.580C>T (p.Gln194Ter) | |
17 | g.17793529A>C | CA398545772 | RAI1 | c.581A>C (p.Gln194Pro) | |
17 | g.17793529A>G | CA398545774 | RAI1 | c.581A>G (p.Gln194Arg) | |
17 | g.17793529A>T | CA398545773 | RAI1 | c.581A>T (p.Gln194Leu) | |
17 | g.17793530G>A | CA498422804 | RAI1 | c.582G>A (p.Gln194=) | |
17 | g.17793530G>C | CA398545775 | RAI1 | c.582G>C (p.Gln194His) | |
17 | g.17793530G>T | CA398545776 | RAI1 | c.582G>T (p.Gln194His) | |
17 | g.17793531A>C | CA398545777 | RAI1 | c.583A>C (p.Asn195His) | |
17 | g.17793531A>G | CA398545778 | RAI1 | c.583A>G (p.Asn195Asp) | |
17 | g.17793531A>T | CA398545779 | RAI1 | c.583A>T (p.Asn195Tyr) | |
17 | g.17793532A>C | CA398545780 | RAI1 | c.584A>C (p.Asn195Thr) | |
17 | g.17793532A>G | CA398545781 | RAI1 | c.584A>G (p.Asn195Ser) | |
17 | g.17793532A>T | CA398545782 | RAI1 | c.584A>T (p.Asn195Ile) | |
17 | g.17793533C>A | CA398545783 | RAI1 | c.585C>A (p.Asn195Lys) | |
17 | g.17793533C= | CA2250666210 | RAI1 | c.585C= (p.Asn195=) | |
17 | g.17793533C>G | CA398545784 | RAI1 | c.585C>G (p.Asn195Lys) | |
17 | g.17793533C>T | CA8418156 | RAI1 | c.585C>T (p.Asn195=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.17793534G>A | CA8418157 | RAI1 | c.586G>A (p.Asp196Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.17793534G>C | CA398545787 | RAI1 | c.586G>C (p.Asp196His) | gnomAD v4 |
17 | g.17793534G= | CA2250666219 | RAI1 | c.586G= (p.Asp196=) | |
17 | g.17793534G>T | CA398545786 | RAI1 | c.586G>T (p.Asp196Tyr) | dbSNP |
17 | g.17793535A>C | CA398545790 | RAI1 | c.587A>C (p.Asp196Ala) | |
17 | g.17793535A>G | CA398545788 | RAI1 | c.587A>G (p.Asp196Gly) | |
17 | g.17793535A>T | CA398545789 | RAI1 | c.587A>T (p.Asp196Val) | |
17 | g.17793536C>A | CA398545791 | RAI1 | c.588C>A (p.Asp196Glu) | |
17 | g.17793536C= | CA2250666225 | RAI1 | c.588C= (p.Asp196=) | |
17 | g.17793536C>G | CA398545792 | RAI1 | c.588C>G (p.Asp196Glu) | |
17 | g.17793536C>T | CA498422814 | RAI1 | c.588C>T (p.Asp196=) | dbSNP gnomAD v4 |
17 | g.17793537A>C | CA398545794 | RAI1 | c.589A>C (p.Ile197Leu) | |
17 | g.17793537A>G | CA398545796 | RAI1 | c.589A>G (p.Ile197Val) | |
17 | g.17793537A>T | CA398545797 | RAI1 | c.589A>T (p.Ile197Phe) | |
17 | g.17793538T>A | CA398545798 | RAI1 | c.590T>A (p.Ile197Asn) | |
17 | g.17793538T>C | CA398545800 | RAI1 | c.590T>C (p.Ile197Thr) | gnomAD v4 |
17 | g.17793538T>G | CA398545799 | RAI1 | c.590T>G (p.Ile197Ser) | |
17 | g.17793539T>A | CA498422818 | RAI1 | c.591T>A (p.Ile197=) | |
17 | g.17793539T>C | CA498422819 | RAI1 | c.591T>C (p.Ile197=) | COSMIC COSMIC |
17 | g.17793539T>G | CA398545801 | RAI1 | c.591T>G (p.Ile197Met) | |
17 | g.17793540G>A | CA398545802 | RAI1 | c.592G>A (p.Ala198Thr) | |
17 | g.17793540G>C | CA398545803 | RAI1 | c.592G>C (p.Ala198Pro) | |
17 | g.17793540G>T | CA398545804 | RAI1 | c.592G>T (p.Ala198Ser) | |
17 | g.17793541C>A | CA398545805 | RAI1 | c.593C>A (p.Ala198Asp) | |
17 | g.17793541C>G | CA398545807 | RAI1 | c.593C>G (p.Ala198Gly) | |
17 | g.17793541C>T | CA398545806 | RAI1 | c.593C>T (p.Ala198Val) | |
17 | g.17793542C>A | CA498422822 | RAI1 | c.594C>A (p.Ala198=) | |
17 | g.17793542C>G | CA498422824 | RAI1 | c.594C>G (p.Ala198=) | |
17 | g.17793542C>T | CA498422823 | RAI1 | c.594C>T (p.Ala198=) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
17 | g.17793543T>A | CA398545808 | RAI1 | c.595T>A (p.Ser199Thr) | |
17 | g.17793543T>C | CA398545809 | RAI1 | c.595T>C (p.Ser199Pro) | |
17 | g.17793543T>G | CA398545810 | RAI1 | c.595T>G (p.Ser199Ala) | |
17 | g.17793544C>A | CA398545811 | RAI1 | c.596C>A (p.Ser199Tyr) | |
17 | g.17793544C>G | CA398545812 | RAI1 | c.596C>G (p.Ser199Cys) | gnomAD v4 |
17 | g.17793544C>T | CA398545813 | RAI1 | c.596C>T (p.Ser199Phe) | COSMIC |
17 | g.17793545C>A | CA498422826 | RAI1 | c.597C>A (p.Ser199=) | |
17 | g.17793545C>G | CA498422827 | RAI1 | c.597C>G (p.Ser199=) | |
17 | g.17793545C>T | CA498422829 | RAI1 | c.597C>T (p.Ser199=) | gnomAD v4 COSMIC COSMIC |
17 | g.17793546C>A | CA398545814 | RAI1 | c.598C>A (p.Pro200Thr) | |
17 | g.17793546C= | CA2250666238 | RAI1 | c.598C= (p.Pro200=) | |
17 | g.17793546C>G | CA398545815 | RAI1 | c.598C>G (p.Pro200Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.17793546C>T | CA288367145 | RAI1 | c.598C>T (p.Pro200Ser) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.17793547C>A | CA398545816 | RAI1 | c.599C>A (p.Pro200His) | |
17 | g.17793547C= | CA2250666253 | RAI1 | c.599C= (p.Pro200=) | |
17 | g.17793547C>G | CA398545817 | RAI1 | c.599C>G (p.Pro200Arg) | |
17 | g.17793547C>T | CA398545818 | RAI1 | c.599C>T (p.Pro200Leu) | dbSNP gnomAD v4 COSMIC COSMIC |
17 | g.17793548del | CA2695201647 | RAI1 | c.600del (p.Leu201CysfsTer?) c.600del (p.Leu201CysfsTer29) | ClinVar |
17 | g.17793548T>A | CA498422831 | RAI1 | c.600T>A (p.Pro200=) | |
17 | g.17793548T>C | CA498422832 | RAI1 | c.600T>C (p.Pro200=) | |
17 | g.17793548T>G | CA498422833 | RAI1 | c.600T>G (p.Pro200=) | |
17 | g.17793549C>A | CA398545819 | RAI1 | c.601C>A (p.Leu201Met) | |
17 | g.17793549C>G | CA398545820 | RAI1 | c.601C>G (p.Leu201Val) | COSMIC COSMIC |
17 | g.17793549C>T | CA498422834 | RAI1 | c.601C>T (p.Leu201=) | |
17 | g.17793550T>A | CA398545821 | RAI1 | c.602T>A (p.Leu201Gln) | |
17 | g.17793550T>C | CA398545822 | RAI1 | c.602T>C (p.Leu201Pro) | |
17 | g.17793550T>G | CA398545823 | RAI1 | c.602T>G (p.Leu201Arg) | |
17 | g.17793551G>A | CA498422840 | RAI1 | c.603G>A (p.Leu201=) | dbSNP |
17 | g.17793551G>C | CA498422839 | RAI1 | c.603G>C (p.Leu201=) | |
17 | g.17793551G= | CA2250666256 | RAI1 | c.603G= (p.Leu201=) | |
17 | g.17793551G>T | CA498422838 | RAI1 | c.603G>T (p.Leu201=) | |
17 | g.17793552C>A | CA398545824 | RAI1 | c.604C>A (p.Pro202Thr) | |
17 | g.17793552C= | CA2250666261 | RAI1 | c.604C= (p.Pro202=) | |
17 | g.17793552C>G | CA398545825 | RAI1 | c.604C>G (p.Pro202Ala) | |
17 | g.17793552C>T | CA398545826 | RAI1 | c.604C>T (p.Pro202Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.17793553C>A | CA398545827 | RAI1 | c.605C>A (p.Pro202His) | |
17 | g.17793553C>G | CA398545828 | RAI1 | c.605C>G (p.Pro202Arg) | |
17 | g.17793553C>T | CA398545829 | RAI1 | c.605C>T (p.Pro202Leu) | gnomAD v4 |
17 | g.17793554C>A | CA498422844 | RAI1 | c.606C>A (p.Pro202=) | |
17 | g.17793554C= | CA2250666268 | RAI1 | c.606C= (p.Pro202=) | |
17 | g.17793554C>G | CA498422845 | RAI1 | c.606C>G (p.Pro202=) | dbSNP gnomAD v4 |
17 | g.17793554C>T | CA288367148 | RAI1 | c.606C>T (p.Pro202=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.17793555T>A | CA398545830 | RAI1 | c.607T>A (p.Phe203Ile) | gnomAD v4 |
17 | g.17793555T>C | CA398545831 | RAI1 | c.607T>C (p.Phe203Leu) | gnomAD v4 |
17 | g.17793555T>G | CA398545832 | RAI1 | c.607T>G (p.Phe203Val) | |
17 | g.17793556T>A | CA398545835 | RAI1 | c.608T>A (p.Phe203Tyr) | gnomAD v4 |
17 | g.17793556T>C | CA398545833 | RAI1 | c.608T>C (p.Phe203Ser) | |
17 | g.17793556T>G | CA398545834 | RAI1 | c.608T>G (p.Phe203Cys) | |
17 | g.17793556_17793557delinsTC | CA2250666275 | RAI1 | c.608_609delinsTC (p.Phe203=) | |
17 | g.17793557C>A | CA398545836 | RAI1 | c.609C>A (p.Phe203Leu) | |
17 | g.17793557C= | CA2250666286 | RAI1 | c.609C= (p.Phe203=) | |
17 | g.17793557C>G | CA8418158 | RAI1 | c.609C>G (p.Phe203Leu) | ClinVar dbSNP ExAC gnomAD v2 |
17 | g.17793557C>T | CA8418159 | RAI1 | c.609C>T (p.Phe203=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
17 | g.17793561del | CA1139665264 | RAI1 | c.613del (p.Gln205ArgfsTer?) c.613del (p.Gln205ArgfsTer25) | ClinVar dbSNP |
17 | g.17793558C>A | CA398545837 | RAI1 | c.610C>A (p.Pro204Thr) | |
17 | g.17793558C= | CA2250666299 | RAI1 | c.610C= (p.Pro204=) | |
17 | g.17793558C>G | CA398545838 | RAI1 | c.610C>G (p.Pro204Ala) | |
17 | g.17793558C>T | CA154868 | RAI1 | c.610C>T (p.Pro204Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.17793559C>A | CA398545839 | RAI1 | c.611C>A (p.Pro204His) | |
17 | g.17793559C>G | CA398545840 | RAI1 | c.611C>G (p.Pro204Arg) | |
17 | g.17793559C>T | CA398545841 | RAI1 | c.611C>T (p.Pro204Leu) | |
17 | g.17793560C>A | CA498422856 | RAI1 | c.612C>A (p.Pro204=) | |
17 | g.17793560C>G | CA498422858 | RAI1 | c.612C>G (p.Pro204=) | |
17 | g.17793560C>T | CA498422861 | RAI1 | c.612C>T (p.Pro204=) | gnomAD v4 |
17 | g.17793561C>A | CA398545842 | RAI1 | c.613C>A (p.Gln205Lys) | ClinVar dbSNP gnomAD v4 |
17 | g.17793561C>G | CA398545843 | RAI1 | c.613C>G (p.Gln205Glu) | |
17 | g.17793561C>T | CA398545844 | RAI1 | c.613C>T (p.Gln205Ter) | |
17 | g.17793562A>C | CA398545847 | RAI1 | c.614A>C (p.Gln205Pro) | |
17 | g.17793562A>G | CA398545846 | RAI1 | c.614A>G (p.Gln205Arg) | |
17 | g.17793562A>T | CA398545845 | RAI1 | c.614A>T (p.Gln205Leu) | |
17 | g.17793563G>A | CA498422863 | RAI1 | c.615G>A (p.Gln205=) | |
17 | g.17793563G>C | CA398545848 | RAI1 | c.615G>C (p.Gln205His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.17793563G= | CA2250666309 | RAI1 | c.615G= (p.Gln205=) | |
17 | g.17793563G>T | CA398545849 | RAI1 | c.615G>T (p.Gln205His) | |
17 | g.17793564G>A | CA8418160 | RAI1 | c.616G>A (p.Gly206Ser) c.616G>A (p.Gly206Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.17793564G>C | CA398545851 | RAI1 | c.616G>C (p.Gly206Arg) | |
17 | g.17793564G= | CA2250666313 | RAI1 | c.616G= (p.Gly206=) | |
17 | g.17793564G>T | CA398545850 | RAI1 | c.616G>T (p.Gly206Cys) c.616G>T (p.Gly206Trp) | |
17 | g.17793565G>A | CA398545852 | RAI1 | c.617G>A (p.Gly206Asp) c.616+1G>A (n.616+1G>A) | dbSNP |
17 | g.17793565G>C | CA398545853 | RAI1 | c.617G>C (p.Gly206Ala) c.616+1G>C (n.616+1G>C) | |
17 | g.17793565G= | CA2250666318 | RAI1 | c.617G= (p.Gly206=) c.616+1G= (n.616+1G=) | |
17 | g.17793565G>T | CA288367165 | RAI1 | c.617G>T (p.Gly206Val) c.616+1G>T (n.616+1G>T) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.17793566T>A | CA498422865 | RAI1 | c.618T>A (p.Gly206=) c.616+2T>A (n.616+2T>A) | |
17 | g.17793566T>C | CA498422867 | RAI1 | c.618T>C (p.Gly206=) c.616+2T>C (n.616+2T>C) | gnomAD v4 |
17 | g.17793566T>G | CA498422868 | RAI1 | c.618T>G (p.Gly206=) c.616+2T>G (n.616+2T>G) | |
17 | g.17793567A= | CA2250666330 | RAI1 | c.619A= (p.Thr207=) c.616+3A= (n.616+3A=) | |
17 | g.17793567A>C | CA398545854 | RAI1 | c.619A>C (p.Thr207Pro) c.616+3A>C (n.616+3A>C) | |
17 | g.17793567A>G | CA398545855 | RAI1 | c.619A>G (p.Thr207Ala) c.616+3A>G (n.616+3A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.17793567A>T | CA398545856 | RAI1 | c.619A>T (p.Thr207Ser) c.616+3A>T (n.616+3A>T) | ClinVar dbSNP |
17 | g.17793568C>A | CA398545857 | RAI1 | c.620C>A (p.Thr207Asn) c.616+4C>A (n.616+4C>A) | |
17 | g.17793568C= | CA2250666334 | RAI1 | c.620C= (p.Thr207=) c.616+4C= (n.616+4C=) | |
17 | g.17793568C>G | CA398545858 | RAI1 | c.620C>G (p.Thr207Ser) c.616+4C>G (n.616+4C>G) | dbSNP gnomAD v4 |
17 | g.17793568C>T | CA398545859 | RAI1 | c.620C>T (p.Thr207Ile) c.616+4C>T (n.616+4C>T) | gnomAD v4 |
17 | g.17793569C>A | CA498422870 | RAI1 | c.621C>A (p.Thr207=) c.616+5C>A (n.616+5C>A) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.17793569C= | CA2250666339 | RAI1 | c.621C= (p.Thr207=) c.616+5C= (n.616+5C=) | |
17 | g.17793569C>G | CA498422871 | RAI1 | c.621C>G (p.Thr207=) c.616+5C>G (n.616+5C>G) | |
17 | g.17793569C>T | CA498422872 | RAI1 | c.621C>T (p.Thr207=) c.616+5C>T (n.616+5C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.17793570C>A | CA398545860 | RAI1 | c.622C>A (p.His208Asn) c.616+6C>A (n.616+6C>A) | |
17 | g.17793570C= | CA2250666340 | RAI1 | c.622C= (p.His208=) c.616+6C= (n.616+6C=) | |
17 | g.17793570C>G | CA398545861 | RAI1 | c.622C>G (p.His208Asp) c.616+6C>G (n.616+6C>G) | |
17 | g.17793570C>T | CA398545862 | RAI1 | c.622C>T (p.His208Tyr) c.616+6C>T (n.616+6C>T) | dbSNP gnomAD v2 gnomAD v4 |