Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
17 | g.17793571A= | CA2250666341 | RAI1 | c.623A= (p.His208=) c.616+7A= (n.616+7A=) | |
17 | g.17793571A>C | CA398545863 | RAI1 | c.623A>C (p.His208Pro) c.616+7A>C (n.616+7A>C) | |
17 | g.17793571A>G | CA398545865 | RAI1 | c.623A>G (p.His208Arg) c.616+7A>G (n.616+7A>G) | |
17 | g.17793571A>T | CA398545864 | RAI1 | c.623A>T (p.His208Leu) c.616+7A>T (n.616+7A>T) | dbSNP |
17 | g.17793572C>A | CA398545866 | RAI1 | c.624C>A (p.His208Gln) c.616+8C>A (n.616+8C>A) | |
17 | g.17793572C>G | CA398545867 | RAI1 | c.624C>G (p.His208Gln) c.616+8C>G (n.616+8C>G) | |
17 | g.17793572C>T | CA498422877 | RAI1 | c.624C>T (p.His208=) c.616+8C>T (n.616+8C>T) | |
17 | g.17793573T>A | CA398545868 | RAI1 | c.625T>A (p.Phe209Ile) c.616+9T>A (n.616+9T>A) | |
17 | g.17793573T>C | CA398545869 | RAI1 | c.625T>C (p.Phe209Leu) c.616+9T>C (n.616+9T>C) | |
17 | g.17793573T>G | CA398545870 | RAI1 | c.625T>G (p.Phe209Val) c.616+9T>G (n.616+9T>G) | |
17 | g.17793574_17793575del | CA2739290909 | RAI1 | c.626_627del (p.Phe209SerfsTer28) c.616+10_616+11del (n.616+10_616+11del) | |
17 | g.17793574T>A | CA398545871 | RAI1 | c.626T>A (p.Phe209Tyr) c.616+10T>A (n.616+10T>A) | |
17 | g.17793574T>C | CA398545872 | RAI1 | c.626T>C (p.Phe209Ser) c.616+10T>C (n.616+10T>C) | |
17 | g.17793574T>G | CA398545873 | RAI1 | c.626T>G (p.Phe209Cys) c.616+10T>G (n.616+10T>G) | |
17 | g.17793575T>A | CA398545874 | RAI1 | c.627T>A (p.Phe209Leu) c.616+11T>A (n.616+11T>A) | |
17 | g.17793575T>C | CA498422878 | RAI1 | c.627T>C (p.Phe209=) c.616+11T>C (n.616+11T>C) | ClinVar gnomAD v4 |
17 | g.17793575T>G | CA398545875 | RAI1 | c.627T>G (p.Phe209Leu) c.616+11T>G (n.616+11T>G) | |
17 | g.17793576C>A | CA398545877 | RAI1 | c.628C>A (p.Pro210Thr) c.616+12C>A (n.616+12C>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.17793576C= | CA2250666344 | RAI1 | c.628C= (p.Pro210=) c.616+12C= (n.616+12C=) | |
17 | g.17793576C>G | CA398545878 | RAI1 | c.628C>G (p.Pro210Ala) c.616+12C>G (n.616+12C>G) | gnomAD v4 |
17 | g.17793576C>T | CA398545876 | RAI1 | c.628C>T (p.Pro210Ser) c.616+12C>T (n.616+12C>T) | |
17 | g.17793577C>A | CA398545879 | RAI1 | c.629C>A (p.Pro210His) c.616+13C>A (n.616+13C>A) | |
17 | g.17793577C>G | CA398545880 | RAI1 | c.629C>G (p.Pro210Arg) c.616+13C>G (n.616+13C>G) | ClinVar |
17 | g.17793577C>T | CA398545881 | RAI1 | c.629C>T (p.Pro210Leu) c.616+13C>T (n.616+13C>T) | gnomAD v4 |
17 | g.17793578T>A | CA498422879 | RAI1 | c.630T>A (p.Pro210=) c.616+14T>A (n.616+14T>A) | |
17 | g.17793578T>C | CA498422880 | RAI1 | c.630T>C (p.Pro210=) c.616+14T>C (n.616+14T>C) | |
17 | g.17793578T>G | CA498422883 | RAI1 | c.630T>G (p.Pro210=) c.616+14T>G (n.616+14T>G) | |
17 | g.17793579C>A | CA398545882 | RAI1 | c.631C>A (p.Gln211Lys) c.616+15C>A (n.616+15C>A) | |
17 | g.17793579C>G | CA398545883 | RAI1 | c.631C>G (p.Gln211Glu) c.616+15C>G (n.616+15C>G) | |
17 | g.17793579C>T | CA398545884 | RAI1 | c.631C>T (p.Gln211Ter) c.616+15C>T (n.616+15C>T) | |
17 | g.17793580A>C | CA398545887 | RAI1 | c.632A>C (p.Gln211Pro) c.616+16A>C (n.616+16A>C) | |
17 | g.17793580A>G | CA398545885 | RAI1 | c.632A>G (p.Gln211Arg) c.616+16A>G (n.616+16A>G) | COSMIC COSMIC |
17 | g.17793580A>T | CA398545886 | RAI1 | c.632A>T (p.Gln211Leu) c.616+16A>T (n.616+16A>T) | |
17 | g.17793581G>A | CA498422886 | RAI1 | c.633G>A (p.Gln211=) c.616+17G>A (n.616+17G>A) | |
17 | g.17793581G>C | CA398545888 | RAI1 | c.633G>C (p.Gln211His) c.616+17G>C (n.616+17G>C) | |
17 | g.17793581G>T | CA398545889 | RAI1 | c.633G>T (p.Gln211His) c.616+17G>T (n.616+17G>T) | |
17 | g.17793582C>A | CA398545890 | RAI1 | c.634C>A (p.His212Asn) c.616+18C>A (n.616+18C>A) | |
17 | g.17793582C= | CA2250666347 | RAI1 | c.634C= (p.His212=) c.616+18C= (n.616+18C=) | |
17 | g.17793582C>G | CA398545891 | RAI1 | c.634C>G (p.His212Asp) c.616+18C>G (n.616+18C>G) | |
17 | g.17793582C>T | CA398545892 | RAI1 | c.634C>T (p.His212Tyr) c.616+18C>T (n.616+18C>T) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.17793583A>C | CA398545893 | RAI1 | c.635A>C (p.His212Pro) c.616+19A>C (n.616+19A>C) | |
17 | g.17793583A>G | CA398545895 | RAI1 | c.635A>G (p.His212Arg) c.616+19A>G (n.616+19A>G) | dbSNP |
17 | g.17793583A>T | CA398545894 | RAI1 | c.635A>T (p.His212Leu) c.616+19A>T (n.616+19A>T) | |
17 | g.17793584T>A | CA398545896 | RAI1 | c.636T>A (p.His212Gln) c.616+20T>A (n.616+20T>A) | |
17 | g.17793584T>C | CA498422890 | RAI1 | c.636T>C (p.His212=) c.616+20T>C (n.616+20T>C) | gnomAD v4 |
17 | g.17793584T>G | CA398545897 | RAI1 | c.636T>G (p.His212Gln) c.616+20T>G (n.616+20T>G) | |
17 | g.17793585T>A | CA398545898 | RAI1 | c.637T>A (p.Ser213Thr) c.616+21T>A (n.616+21T>A) | |
17 | g.17793585T>C | CA398545899 | RAI1 | c.637T>C (p.Ser213Pro) c.616+21T>C (n.616+21T>C) | |
17 | g.17793585T>G | CA398545900 | RAI1 | c.637T>G (p.Ser213Ala) c.616+21T>G (n.616+21T>G) | |
17 | g.17793586C>A | CA398545901 | RAI1 | c.638C>A (p.Ser213Tyr) c.616+22C>A (n.616+22C>A) | |
17 | g.17793586C= | CA2250666350 | RAI1 | c.638C= (p.Ser213=) c.616+22C= (n.616+22C=) | |
17 | g.17793586C>G | CA398545902 | RAI1 | c.638C>G (p.Ser213Cys) c.616+22C>G (n.616+22C>G) | |
17 | g.17793586C>T | CA8418161 | RAI1 | c.638C>T (p.Ser213Phe) c.616+22C>T (n.616+22C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.17793587C>A | CA498422892 | RAI1 | c.639C>A (p.Ser213=) c.616+23C>A (n.616+23C>A) | |
17 | g.17793587C>G | CA498422893 | RAI1 | c.639C>G (p.Ser213=) c.616+23C>G (n.616+23C>G) | |
17 | g.17793587C>T | CA498422894 | RAI1 | c.639C>T (p.Ser213=) c.616+23C>T (n.616+23C>T) | |
17 | g.17793588C>A | CA398545903 | RAI1 | c.640C>A (p.Gln214Lys) c.616+24C>A (n.616+24C>A) | |
17 | g.17793588C= | CA2250666353 | RAI1 | c.640C= (p.Gln214=) c.616+24C= (n.616+24C=) | |
17 | g.17793588C>G | CA398545904 | RAI1 | c.640C>G (p.Gln214Glu) c.616+24C>G (n.616+24C>G) | |
17 | g.17793588C>T | CA398545905 | RAI1 | c.640C>T (p.Gln214Ter) c.616+24C>T (n.616+24C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.17793589A>C | CA398545908 | RAI1 | c.641A>C (p.Gln214Pro) c.616+25A>C (n.616+25A>C) | |
17 | g.17793589A>G | CA398545907 | RAI1 | c.641A>G (p.Gln214Arg) c.616+25A>G (n.616+25A>G) | gnomAD v4 |
17 | g.17793589A>T | CA398545906 | RAI1 | c.641A>T (p.Gln214Leu) c.616+25A>T (n.616+25A>T) | |
17 | g.17793590G>A | CA498422898 | RAI1 | c.642G>A (p.Gln214=) c.616+26G>A (n.616+26G>A) | |
17 | g.17793590G>C | CA398545909 | RAI1 | c.642G>C (p.Gln214His) c.616+26G>C (n.616+26G>C) | |
17 | g.17793590G>T | CA398545910 | RAI1 | c.642G>T (p.Gln214His) c.616+26G>T (n.616+26G>T) | |
17 | g.17793591T>A | CA398545911 | RAI1 | c.643T>A (p.Ser215Thr) c.616+27T>A (n.616+27T>A) | |
17 | g.17793591T>C | CA398545912 | RAI1 | c.643T>C (p.Ser215Pro) c.616+27T>C (n.616+27T>C) | ClinVar dbSNP gnomAD v4 |
17 | g.17793591T>G | CA398545913 | RAI1 | c.643T>G (p.Ser215Ala) c.616+27T>G (n.616+27T>G) | |
17 | g.17793591T= | CA2250666359 | RAI1 | c.643T= (p.Ser215=) c.616+27T= (n.616+27T=) | |
17 | g.17793592C>A | CA8418162 | RAI1 | c.644C>A (p.Ser215Tyr) c.616+28C>A (n.616+28C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.17793592C= | CA2250666364 | RAI1 | c.644C= (p.Ser215=) c.616+28C= (n.616+28C=) | |
17 | g.17793592C>G | CA398545914 | RAI1 | c.644C>G (p.Ser215Cys) c.616+28C>G (n.616+28C>G) | |
17 | g.17793592C>T | CA398545915 | RAI1 | c.644C>T (p.Ser215Phe) c.616+28C>T (n.616+28C>T) | |
17 | g.17793593C>A | CA498422904 | RAI1 | c.645C>A (p.Ser215=) c.616+29C>A (n.616+29C>A) | |
17 | g.17793593C= | CA2250666376 | RAI1 | c.645C= (p.Ser215=) c.616+29C= (n.616+29C=) | |
17 | g.17793593C>G | CA498422905 | RAI1 | c.645C>G (p.Ser215=) c.616+29C>G (n.616+29C>G) | |
17 | g.17793593C>T | CA8418163 | RAI1 | c.645C>T (p.Ser215=) c.616+29C>T (n.616+29C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.17793594T>A | CA398545916 | RAI1 | c.646T>A (p.Phe216Ile) c.616+30T>A (n.616+30T>A) | |
17 | g.17793594T>C | CA398545917 | RAI1 | c.646T>C (p.Phe216Leu) c.616+30T>C (n.616+30T>C) | gnomAD v4 |
17 | g.17793594T>G | CA398545918 | RAI1 | c.646T>G (p.Phe216Val) c.616+30T>G (n.616+30T>G) | |
17 | g.17793595del | CA2697559439 | RAI1 | c.647del (p.Phe216SerfsTer?) c.616+31del (n.616+31del) | ClinVar |
17 | g.17793595T>A | CA398545919 | RAI1 | c.647T>A (p.Phe216Tyr) c.616+31T>A (n.616+31T>A) | |
17 | g.17793595T>C | CA398545920 | RAI1 | c.647T>C (p.Phe216Ser) c.616+31T>C (n.616+31T>C) | |
17 | g.17793595T>G | CA398545921 | RAI1 | c.647T>G (p.Phe216Cys) c.616+31T>G (n.616+31T>G) | gnomAD v4 |
17 | g.17793596C>A | CA398545922 | RAI1 | c.648C>A (p.Phe216Leu) c.616+32C>A (n.616+32C>A) | |
17 | g.17793596C= | CA2250666379 | RAI1 | c.648C= (p.Phe216=) c.616+32C= (n.616+32C=) | |
17 | g.17793596C>G | CA288367170 | RAI1 | c.648C>G (p.Phe216Leu) c.616+32C>G (n.616+32C>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.17793596C>T | CA498422910 | RAI1 | c.648C>T (p.Phe216=) c.616+32C>T (n.616+32C>T) | |
17 | g.17793597_17793605del | CA2636388223 | RAI1 | c.649_657del (p.Pro217_Ser219del) c.617-33_617-25del (n.617-33_617-25del) | gnomAD v4 |
17 | g.17793597C>A | CA398545923 | RAI1 | c.649C>A (p.Pro217Thr) c.617-33C>A (n.617-33C>A) | |
17 | g.17793597C>G | CA398545924 | RAI1 | c.649C>G (p.Pro217Ala) c.617-33C>G (n.617-33C>G) | |
17 | g.17793597C>T | CA398545925 | RAI1 | c.649C>T (p.Pro217Ser) c.617-33C>T (n.617-33C>T) | COSMIC COSMIC |
17 | g.17793597_17793600delinsCCCA | CA2250666381 | RAI1 | c.649_652delinsCCCA (p.Pro217=) c.617-33_617-30delinsCCCA (n.617-33_617-30delinsCCCA) | |
17 | g.17793598C>A | CA398545926 | RAI1 | c.650C>A (p.Pro217His) c.617-32C>A (n.617-32C>A) | |
17 | g.17793598C= | CA2250666387 | RAI1 | c.650C= (p.Pro217=) c.617-32C= (n.617-32C=) | |
17 | g.17793598C>G | CA398545927 | RAI1 | c.650C>G (p.Pro217Arg) c.617-32C>G (n.617-32C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.17793598C>T | CA398545928 | RAI1 | c.650C>T (p.Pro217Leu) c.617-32C>T (n.617-32C>T) | gnomAD v4 |
17 | g.17793600_17793602del | CA726622472 | RAI1 | c.652_654del (p.Thr218del) c.617-30_617-28del (n.617-30_617-28del) | dbSNP |
17 | g.17793599C>A | CA498422914 | RAI1 | c.651C>A (p.Pro217=) c.617-31C>A (n.617-31C>A) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.17793599C= | CA2250666396 | RAI1 | c.651C= (p.Pro217=) c.617-31C= (n.617-31C=) | |
17 | g.17793599C>G | CA498422915 | RAI1 | c.651C>G (p.Pro217=) c.617-31C>G (n.617-31C>G) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.17793599C>T | CA498422916 | RAI1 | c.651C>T (p.Pro217=) c.617-31C>T (n.617-31C>T) | ClinVar dbSNP |
17 | g.17793600A= | CA2250666403 | RAI1 | c.652A= (p.Thr218=) c.617-30A= (n.617-30A=) | |
17 | g.17793600A>C | CA8418164 | RAI1 | c.652A>C (p.Thr218Pro) c.617-30A>C (n.617-30A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.17793600A>G | CA398545929 | RAI1 | c.652A>G (p.Thr218Ala) c.617-30A>G (n.617-30A>G) | |
17 | g.17793600A>T | CA398545930 | RAI1 | c.652A>T (p.Thr218Ser) c.617-30A>T (n.617-30A>T) | |
17 | g.17793601C>A | CA398545931 | RAI1 | c.653C>A (p.Thr218Asn) c.617-29C>A (n.617-29C>A) | gnomAD v4 |
17 | g.17793601C= | CA2250666408 | RAI1 | c.653C= (p.Thr218=) c.617-29C= (n.617-29C=) | |
17 | g.17793601C>G | CA398545932 | RAI1 | c.653C>G (p.Thr218Ser) c.617-29C>G (n.617-29C>G) | |
17 | g.17793601C>T | CA288367175 | RAI1 | c.653C>T (p.Thr218Ile) c.617-29C>T (n.617-29C>T) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.17793602C>A | CA8418165 | RAI1 | c.654C>A (p.Thr218=) c.617-28C>A (n.617-28C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.17793602C= | CA2250666414 | RAI1 | c.654C= (p.Thr218=) c.617-28C= (n.617-28C=) | |
17 | g.17793602C>G | CA498422923 | RAI1 | c.654C>G (p.Thr218=) c.617-28C>G (n.617-28C>G) | gnomAD v4 |
17 | g.17793602C>T | CA498422924 | RAI1 | c.654C>T (p.Thr218=) c.617-28C>T (n.617-28C>T) | gnomAD v4 |
17 | g.17793603T>A | CA398545933 | RAI1 | c.655T>A (p.Ser219Thr) c.617-27T>A (n.617-27T>A) | |
17 | g.17793603T>C | CA398545935 | RAI1 | c.655T>C (p.Ser219Pro) c.617-27T>C (n.617-27T>C) | ClinVar dbSNP |
17 | g.17793603T>G | CA398545934 | RAI1 | c.655T>G (p.Ser219Ala) c.617-27T>G (n.617-27T>G) | |
17 | g.17793604C>A | CA398545936 | RAI1 | c.656C>A (p.Ser219Tyr) c.617-26C>A (n.617-26C>A) | |
17 | g.17793604C= | CA2250666418 | RAI1 | c.656C= (p.Ser219=) c.617-26C= (n.617-26C=) | |
17 | g.17793604C>G | CA398545937 | RAI1 | c.656C>G (p.Ser219Cys) c.617-26C>G (n.617-26C>G) | dbSNP gnomAD v4 |
17 | g.17793604C>T | CA398545938 | RAI1 | c.656C>T (p.Ser219Phe) c.617-26C>T (n.617-26C>T) |