Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
17 | g.17793605C>A | CA498422934 | RAI1 | c.657C>A (p.Ser219=) c.617-25C>A (n.617-25C>A) | |
17 | g.17793605C>G | CA498422933 | RAI1 | c.657C>G (p.Ser219=) c.617-25C>G (n.617-25C>G) | |
17 | g.17793605C>T | CA498422932 | RAI1 | c.657C>T (p.Ser219=) c.617-25C>T (n.617-25C>T) | gnomAD v4 |
17 | g.17793609_17793617del | CA2573153183 | RAI1 | c.661_669del (p.Thr221_Ser223del) c.617-21_617-13del (n.617-21_617-13del) | ClinVar dbSNP |
17 | g.17793606T>A | CA398545939 | RAI1 | c.658T>A (p.Ser220Thr) c.617-24T>A (n.617-24T>A) | gnomAD v4 |
17 | g.17793606T>C | CA398545940 | RAI1 | c.658T>C (p.Ser220Pro) c.617-24T>C (n.617-24T>C) | |
17 | g.17793606T>G | CA398545941 | RAI1 | c.658T>G (p.Ser220Ala) c.617-24T>G (n.617-24T>G) | |
17 | g.17793607C>A | CA398545942 | RAI1 | c.659C>A (p.Ser220Tyr) c.617-23C>A (n.617-23C>A) | |
17 | g.17793607C>G | CA398545943 | RAI1 | c.659C>G (p.Ser220Cys) c.617-23C>G (n.617-23C>G) | ClinVar |
17 | g.17793607C>T | CA398545944 | RAI1 | c.659C>T (p.Ser220Phe) c.617-23C>T (n.617-23C>T) | ClinVar |
17 | g.17793608C>A | CA498422939 | RAI1 | c.660C>A (p.Ser220=) c.617-22C>A (n.617-22C>A) | |
17 | g.17793608C= | CA2250666428 | RAI1 | c.660C= (p.Ser220=) c.617-22C= (n.617-22C=) | |
17 | g.17793608C>G | CA498422940 | RAI1 | c.660C>G (p.Ser220=) c.617-22C>G (n.617-22C>G) | |
17 | g.17793608C>T | CA243536 | RAI1 | c.660C>T (p.Ser220=) c.617-22C>T (n.617-22C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.17793609A= | CA2250666434 | RAI1 | c.661A= (p.Thr221=) c.617-21A= (n.617-21A=) | |
17 | g.17793609A>C | CA398545945 | RAI1 | c.661A>C (p.Thr221Pro) c.617-21A>C (n.617-21A>C) | |
17 | g.17793609A>G | CA398545946 | RAI1 | c.661A>G (p.Thr221Ala) c.617-21A>G (n.617-21A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.17793609A>T | CA398545947 | RAI1 | c.661A>T (p.Thr221Ser) c.617-21A>T (n.617-21A>T) | |
17 | g.17793609_17793623dup | CA2250666432 | RAI1 | c.661_675dup (p.Ser225_Val226insThrTyrSerSerSer) c.617-21_617-7dup (n.617-21_617-7dup) | dbSNP |
17 | g.17793610C>A | CA398545948 | RAI1 | c.662C>A (p.Thr221Asn) c.617-20C>A (n.617-20C>A) | |
17 | g.17793610C>G | CA398545950 | RAI1 | c.662C>G (p.Thr221Ser) c.617-20C>G (n.617-20C>G) | |
17 | g.17793610C>T | CA398545949 | RAI1 | c.662C>T (p.Thr221Ile) c.617-20C>T (n.617-20C>T) | |
17 | g.17793611C>A | CA288367180 | RAI1 | c.663C>A (p.Thr221=) c.617-19C>A (n.617-19C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.17793611C= | CA2250666437 | RAI1 | c.663C= (p.Thr221=) c.617-19C= (n.617-19C=) | |
17 | g.17793611C>G | CA498422945 | RAI1 | c.663C>G (p.Thr221=) c.617-19C>G (n.617-19C>G) | |
17 | g.17793611C>T | CA498422948 | RAI1 | c.663C>T (p.Thr221=) c.617-19C>T (n.617-19C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.17793613_17793615dup | CA2576187124 | RAI1 | c.665_667dup (p.Tyr222_Ser223insTyr) c.617-17_617-15dup (n.617-17_617-15dup) | |
17 | g.17793612T>A | CA398545951 | RAI1 | c.664T>A (p.Tyr222Asn) c.617-18T>A (n.617-18T>A) | |
17 | g.17793612T>C | CA398545952 | RAI1 | c.664T>C (p.Tyr222His) c.617-18T>C (n.617-18T>C) | |
17 | g.17793612T>G | CA398545953 | RAI1 | c.664T>G (p.Tyr222Asp) c.617-18T>G (n.617-18T>G) | |
17 | g.17793613A= | CA2250666442 | RAI1 | c.665A= (p.Tyr222=) c.617-17A= (n.617-17A=) | |
17 | g.17793613A>C | CA398545954 | RAI1 | c.665A>C (p.Tyr222Ser) c.617-17A>C (n.617-17A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.17793613A>G | CA398545955 | RAI1 | c.665A>G (p.Tyr222Cys) c.617-17A>G (n.617-17A>G) | |
17 | g.17793613A>T | CA398545956 | RAI1 | c.665A>T (p.Tyr222Phe) c.617-17A>T (n.617-17A>T) | |
17 | g.17793613_17793616delinsACTC | CA2250666443 | RAI1 | c.665_668delinsACTC (p.Tyr222=) c.617-17_617-14delinsACTC (n.617-17_617-14delinsACTC) | |
17 | g.17793614C>A | CA398545957 | RAI1 | c.666C>A (p.Tyr222Ter) c.617-16C>A (n.617-16C>A) | |
17 | g.17793614C= | CA2250666453 | RAI1 | c.666C= (p.Tyr222=) c.617-16C= (n.617-16C=) | |
17 | g.17793614C>G | CA398545958 | RAI1 | c.666C>G (p.Tyr222Ter) c.617-16C>G (n.617-16C>G) | |
17 | g.17793614C>T | CA8418167 | RAI1 | c.666C>T (p.Tyr222=) c.617-16C>T (n.617-16C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.17793620_17793622dup | CA915949614 | RAI1 | c.672_674dup (p.Ser225_Val226insSer) c.617-10_617-8dup (n.617-10_617-8dup) | ClinVar dbSNP |
17 | g.17793620_17793622del | CA8418166 | RAI1 | c.672_674del (p.Ser225del) c.617-10_617-8del (n.617-10_617-8del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.17793615T>A | CA398545961 | RAI1 | c.667T>A (p.Ser223Thr) c.617-15T>A (n.617-15T>A) | ClinVar dbSNP |
17 | g.17793615T>C | CA398545960 | RAI1 | c.667T>C (p.Ser223Pro) c.617-15T>C (n.617-15T>C) | |
17 | g.17793615T>G | CA398545959 | RAI1 | c.667T>G (p.Ser223Ala) c.617-15T>G (n.617-15T>G) | |
17 | g.17793615T= | CA2250666461 | RAI1 | c.667T= (p.Ser223=) c.617-15T= (n.617-15T=) | |
17 | g.17793616C>A | CA398545962 | RAI1 | c.668C>A (p.Ser223Tyr) c.617-14C>A (n.617-14C>A) | ClinVar |
17 | g.17793616C= | CA2250666465 | RAI1 | c.668C= (p.Ser223=) c.617-14C= (n.617-14C=) | |
17 | g.17793616C>G | CA8418168 | RAI1 | c.668C>G (p.Ser223Cys) c.617-14C>G (n.617-14C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.17793616C>T | CA398545963 | RAI1 | c.668C>T (p.Ser223Phe) c.617-14C>T (n.617-14C>T) | |
17 | g.17793617C>A | CA498422963 | RAI1 | c.669C>A (p.Ser223=) c.617-13C>A (n.617-13C>A) | |
17 | g.17793617C= | CA2250666473 | RAI1 | c.669C= (p.Ser223=) c.617-13C= (n.617-13C=) | |
17 | g.17793617C>G | CA498422964 | RAI1 | c.669C>G (p.Ser223=) c.617-13C>G (n.617-13C>G) | gnomAD v4 |
17 | g.17793617C>T | CA498422965 | RAI1 | c.669C>T (p.Ser223=) c.617-13C>T (n.617-13C>T) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.17793618T>A | CA398545964 | RAI1 | c.670T>A (p.Ser224Thr) c.617-12T>A (n.617-12T>A) | gnomAD v4 |
17 | g.17793618T>C | CA398545966 | RAI1 | c.670T>C (p.Ser224Pro) c.617-12T>C (n.617-12T>C) | |
17 | g.17793618T>G | CA398545965 | RAI1 | c.670T>G (p.Ser224Ala) c.617-12T>G (n.617-12T>G) | |
17 | g.17793619C>A | CA398545967 | RAI1 | c.671C>A (p.Ser224Tyr) c.617-11C>A (n.617-11C>A) | |
17 | g.17793619C= | CA2250666483 | RAI1 | c.671C= (p.Ser224=) c.617-11C= (n.617-11C=) | |
17 | g.17793619C>G | CA398545969 | RAI1 | c.671C>G (p.Ser224Cys) c.617-11C>G (n.617-11C>G) | |
17 | g.17793619C>T | CA398545968 | RAI1 | c.671C>T (p.Ser224Phe) c.617-11C>T (n.617-11C>T) | dbSNP COSMIC COSMIC |
17 | g.17793620C>A | CA498422974 | RAI1 | c.672C>A (p.Ser224=) c.617-10C>A (n.617-10C>A) | |
17 | g.17793620C= | CA2250666488 | RAI1 | c.672C= (p.Ser224=) c.617-10C= (n.617-10C=) | |
17 | g.17793620C>G | CA498422972 | RAI1 | c.672C>G (p.Ser224=) c.617-10C>G (n.617-10C>G) | |
17 | g.17793620C>T | CA498422970 | RAI1 | c.672C>T (p.Ser224=) c.617-10C>T (n.617-10C>T) | dbSNP gnomAD v2 |
17 | g.17793621T>A | CA288367190 | RAI1 | c.673T>A (p.Ser225Thr) c.617-9T>A (n.617-9T>A) | dbSNP |
17 | g.17793621T>C | CA398545971 | RAI1 | c.673T>C (p.Ser225Pro) c.617-9T>C (n.617-9T>C) | |
17 | g.17793621T>G | CA398545970 | RAI1 | c.673T>G (p.Ser225Ala) c.617-9T>G (n.617-9T>G) | |
17 | g.17793621T= | CA2250666510 | RAI1 | c.673T= (p.Ser225=) c.617-9T= (n.617-9T=) | |
17 | g.17793622C>A | CA398545972 | RAI1 | c.674C>A (p.Ser225Tyr) c.617-8C>A (n.617-8C>A) | |
17 | g.17793622C= | CA2250666513 | RAI1 | c.674C= (p.Ser225=) c.617-8C= (n.617-8C=) | |
17 | g.17793622C>G | CA398545973 | RAI1 | c.674C>G (p.Ser225Cys) c.617-8C>G (n.617-8C>G) | |
17 | g.17793622C>T | CA398545974 | RAI1 | c.674C>T (p.Ser225Phe) c.617-8C>T (n.617-8C>T) | dbSNP |
17 | g.17793623T>A | CA498422976 | RAI1 | c.675T>A (p.Ser225=) c.617-7T>A (n.617-7T>A) | |
17 | g.17793623T>C | CA498422977 | RAI1 | c.675T>C (p.Ser225=) c.617-7T>C (n.617-7T>C) | dbSNP |
17 | g.17793623T>G | CA498422978 | RAI1 | c.675T>G (p.Ser225=) c.617-7T>G (n.617-7T>G) | |
17 | g.17793623T= | CA2250666515 | RAI1 | c.675T= (p.Ser225=) c.617-7T= (n.617-7T=) | |
17 | g.17793624G>A | CA398545975 | RAI1 | c.676G>A (p.Val226Ile) c.617-6G>A (n.617-6G>A) | |
17 | g.17793624G>C | CA398545976 | RAI1 | c.676G>C (p.Val226Leu) c.617-6G>C (n.617-6G>C) | |
17 | g.17793624G>T | CA398545977 | RAI1 | c.676G>T (p.Val226Phe) c.617-6G>T (n.617-6G>T) | |
17 | g.17793625T>A | CA398545978 | RAI1 | c.677T>A (p.Val226Asp) c.617-5T>A (n.617-5T>A) | |
17 | g.17793625T>C | CA398545979 | RAI1 | c.677T>C (p.Val226Ala) c.617-5T>C (n.617-5T>C) | |
17 | g.17793625T>G | CA398545980 | RAI1 | c.677T>G (p.Val226Gly) c.617-5T>G (n.617-5T>G) | |
17 | g.17793626C>A | CA498422982 | RAI1 | c.678C>A (p.Val226=) c.617-4C>A (n.617-4C>A) | |
17 | g.17793626C= | CA2250666517 | RAI1 | c.678C= (p.Val226=) c.617-4C= (n.617-4C=) | |
17 | g.17793626C>G | CA498422984 | RAI1 | c.678C>G (p.Val226=) c.617-4C>G (n.617-4C>G) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.17793626C>T | CA498422983 | RAI1 | c.678C>T (p.Val226=) c.617-4C>T (n.617-4C>T) | |
17 | g.17793627C>A | CA398545981 | RAI1 | c.679C>A (p.Gln227Lys) c.617-3C>A (n.617-3C>A) | |
17 | g.17793627C>G | CA398545982 | RAI1 | c.679C>G (p.Gln227Glu) c.617-3C>G (n.617-3C>G) | |
17 | g.17793627C>T | CA398545983 | RAI1 | c.679C>T (p.Gln227Ter) c.617-3C>T (n.617-3C>T) | |
17 | g.17793628A= | CA2250666520 | RAI1 | c.680A= (p.Gln227=) c.617-2A= (n.617-2A=) | |
17 | g.17793628A>C | CA398545984 | RAI1 | c.680A>C (p.Gln227Pro) c.617-2A>C (n.617-2A>C) | |
17 | g.17793628A>G | CA288367193 | RAI1 | c.680A>G (p.Gln227Arg) c.617-2A>G (n.617-2A>G) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.17793628A>T | CA398545985 | RAI1 | c.680A>T (p.Gln227Leu) c.617-2A>T (n.617-2A>T) | gnomAD v4 |
17 | g.17793629G>A | CA498422603 | RAI1 | c.681G>A (p.Gln227=) c.617-1G>A (n.617-1G>A) | |
17 | g.17793629G>C | CA398545986 | RAI1 | c.681G>C (p.Gln227His) c.617-1G>C (n.617-1G>C) | |
17 | g.17793629G>T | CA398545987 | RAI1 | c.681G>T (p.Gln227His) c.617-1G>T (n.617-1G>T) | |
17 | g.17793630G>A | CA398545988 | RAI1 | c.682G>A (p.Gly228Ser) c.617G>A (p.Gly206Glu) | ClinVar |
17 | g.17793630G>C | CA398545989 | RAI1 | c.682G>C (p.Gly228Arg) c.617G>C (p.Gly206Ala) | |
17 | g.17793630G>T | CA398545990 | RAI1 | c.682G>T (p.Gly228Cys) c.617G>T (p.Gly206Val) | |
17 | g.17793631G>A | CA398545991 | RAI1 | c.683G>A (p.Gly228Asp) c.618G>A (p.Gly206=) | |
17 | g.17793631G>C | CA398545992 | RAI1 | c.683G>C (p.Gly228Ala) c.618G>C (p.Gly206=) | |
17 | g.17793631G>T | CA398545993 | RAI1 | c.683G>T (p.Gly228Val) c.618G>T (p.Gly206=) | gnomAD v4 |
17 | g.17793632T>A | CA498422605 | RAI1 | c.684T>A (p.Gly228=) c.619T>A (p.Trp207Arg) | |
17 | g.17793632T>C | CA498422608 | RAI1 | c.684T>C (p.Gly228=) c.619T>C (p.Trp207Arg) | |
17 | g.17793632T>G | CA498422606 | RAI1 | c.684T>G (p.Gly228=) c.619T>G (p.Trp207Gly) | |
17 | g.17793633G>A | CA398545996 | RAI1 | c.685G>A (p.Gly229Ser) c.620G>A (p.Trp207Ter) | gnomAD v4 |
17 | g.17793633G>C | CA398545995 | RAI1 | c.685G>C (p.Gly229Arg) c.620G>C (p.Trp207Ser) | |
17 | g.17793633G= | CA2250666524 | RAI1 | c.685G= (p.Gly229=) c.620G= (p.Trp207=) | |
17 | g.17793633G>T | CA398545994 | RAI1 | c.685G>T (p.Gly229Cys) c.620G>T (p.Trp207Leu) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.17793634G>A | CA398545997 | RAI1 | c.686G>A (p.Gly229Asp) c.621G>A (p.Trp207Ter) | gnomAD v4 |
17 | g.17793634G>C | CA398545998 | RAI1 | c.686G>C (p.Gly229Ala) c.621G>C (p.Trp207Cys) | |
17 | g.17793634G= | CA2250666531 | RAI1 | c.686G= (p.Gly229=) c.621G= (p.Trp207=) | |
17 | g.17793634G>T | CA8418169 | RAI1 | c.686G>T (p.Gly229Val) c.621G>T (p.Trp207Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.17793635T>A | CA498422610 | RAI1 | c.687T>A (p.Gly229=) c.622T>A (p.Trp208Arg) | |
17 | g.17793635T>C | CA498422611 | RAI1 | c.687T>C (p.Gly229=) c.622T>C (p.Trp208Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.17793635T>G | CA498422612 | RAI1 | c.687T>G (p.Gly229=) c.622T>G (p.Trp208Gly) | |
17 | g.17793635T= | CA2250666534 | RAI1 | c.687T= (p.Gly229=) c.622T= (p.Trp208=) | |
17 | g.17793636G>A | CA8418170 | RAI1 | c.688G>A (p.Gly230Arg) c.623G>A (p.Trp208Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.17793636G>C | CA398545999 | RAI1 | c.688G>C (p.Gly230Arg) c.623G>C (p.Trp208Ser) | |
17 | g.17793636G= | CA2250666536 | RAI1 | c.688G= (p.Gly230=) c.623G= (p.Trp208=) | |
17 | g.17793636G>T | CA398546000 | RAI1 | c.688G>T (p.Gly230Trp) c.623G>T (p.Trp208Leu) | |
17 | g.17793637G>A | CA398546001 | RAI1 | c.689G>A (p.Gly230Glu) c.624G>A (p.Trp208Ter) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.17793637G>C | CA398546002 | RAI1 | c.689G>C (p.Gly230Ala) c.624G>C (p.Trp208Cys) | |
17 | g.17793637G= | CA2250666539 | RAI1 | c.689G= (p.Gly230=) c.624G= (p.Trp208=) | |
17 | g.17793637G>T | CA398546003 | RAI1 | c.689G>T (p.Gly230Val) c.624G>T (p.Trp208Cys) | |
17 | g.17793638G>A | CA498422616 | RAI1 | c.690G>A (p.Gly230=) c.625G>A (p.Ala209Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.17793638G>C | CA498422617 | RAI1 | c.690G>C (p.Gly230=) c.625G>C (p.Ala209Pro) | |
17 | g.17793638G= | CA2250666543 | RAI1 | c.690G= (p.Gly230=) c.625G= (p.Ala209=) | |
17 | g.17793638G>T | CA498422618 | RAI1 | c.690G>T (p.Gly230=) c.625G>T (p.Ala209Ser) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.17793639C>A | CA398546004 | RAI1 | c.691C>A (p.Gln231Lys) c.626C>A (p.Ala209Glu) | |
17 | g.17793639C>G | CA398546005 | RAI1 | c.691C>G (p.Gln231Glu) c.626C>G (p.Ala209Gly) | |
17 | g.17793639C>T | CA398546006 | RAI1 | c.691C>T (p.Gln231Ter) c.626C>T (p.Ala209Val) | |
17 | g.17793640A>C | CA398546009 | RAI1 | c.692A>C (p.Gln231Pro) c.627A>C (p.Ala209=) | |
17 | g.17793640A>G | CA398546007 | RAI1 | c.692A>G (p.Gln231Arg) c.627A>G (p.Ala209=) | gnomAD v4 |
17 | g.17793640A>T | CA398546008 | RAI1 | c.692A>T (p.Gln231Leu) c.627A>T (p.Ala209=) | |
17 | g.17793641G>A | CA498422623 | RAI1 | c.693G>A (p.Gln231=) c.628G>A (p.Gly210Arg) | |
17 | g.17793641G>C | CA398546010 | RAI1 | c.693G>C (p.Gln231His) c.628G>C (p.Gly210Arg) | |
17 | g.17793641G>T | CA398546011 | RAI1 | c.693G>T (p.Gln231His) c.628G>T (p.Gly210Trp) | gnomAD v4 |
17 | g.17793642G>A | CA398546012 | RAI1 | c.694G>A (p.Gly232Arg) c.629G>A (p.Gly210Glu) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.17793642G>C | CA398546013 | RAI1 | c.694G>C (p.Gly232Arg) c.629G>C (p.Gly210Ala) | |
17 | g.17793642G= | CA2250666547 | RAI1 | c.694G= (p.Gly232=) c.629G= (p.Gly210=) | |
17 | g.17793642G>T | CA398546014 | RAI1 | c.694G>T (p.Gly232Trp) c.629G>T (p.Gly210Val) | |
17 | g.17793643G>A | CA398546015 | RAI1 | c.695G>A (p.Gly232Glu) c.630G>A (p.Gly210=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.17793643G>C | CA398546016 | RAI1 | c.695G>C (p.Gly232Ala) c.630G>C (p.Gly210=) | |
17 | g.17793643G= | CA2250666552 | RAI1 | c.695G= (p.Gly232=) c.630G= (p.Gly210=) | |
17 | g.17793643G>T | CA398546017 | RAI1 | c.695G>T (p.Gly232Val) c.630G>T (p.Gly210=) | |
17 | g.17793644G>A | CA498422626 | RAI1 | c.696G>A (p.Gly232=) c.631G>A (p.Gly211Ser) | |
17 | g.17793644G>C | CA498422628 | RAI1 | c.696G>C (p.Gly232=) c.631G>C (p.Gly211Arg) | |
17 | g.17793644G>T | CA498422630 | RAI1 | c.696G>T (p.Gly232=) c.631G>T (p.Gly211Cys) | |
17 | g.17793645G>A | CA8418171 | RAI1 | c.697G>A (p.Ala233Thr) c.632G>A (p.Gly211Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.17793645G>C | CA398546018 | RAI1 | c.697G>C (p.Ala233Pro) c.632G>C (p.Gly211Ala) | gnomAD v4 |
17 | g.17793645G= | CA2250666560 | RAI1 | c.697G= (p.Ala233=) c.632G= (p.Gly211=) | |
17 | g.17793645G>T | CA398546019 | RAI1 | c.697G>T (p.Ala233Ser) c.632G>T (p.Gly211Val) | |
17 | g.17793645_17793646delinsGC | CA2250666558 | RAI1 | c.697_698delinsGC (p.Ala233=) c.632_633delinsGC (p.Gly211=) | |
17 | g.17793646C>A | CA398546021 | RAI1 | c.698C>A (p.Ala233Asp) c.633C>A (p.Gly211=) | |
17 | g.17793646C>G | CA398546022 | RAI1 | c.698C>G (p.Ala233Gly) c.633C>G (p.Gly211=) | |
17 | g.17793646C>T | CA398546020 | RAI1 | c.698C>T (p.Ala233Val) c.633C>T (p.Gly211=) | gnomAD v4 |
17 | g.17793648del | CA288367202 | RAI1 | c.700del (p.His234ThrfsTer18) c.634del | dbSNP |
17 | g.17793647C>A | CA498422632 | RAI1 | c.699C>A (p.Ala233=) c.634-1C>A (n.634-1C>A) | |
17 | g.17793647C>G | CA498422634 | RAI1 | c.699C>G (p.Ala233=) c.634-1C>G (n.634-1C>G) | |
17 | g.17793647C>T | CA498422635 | RAI1 | c.699C>T (p.Ala233=) c.634-1C>T (n.634-1C>T) | |
17 | g.17793648C>A | CA398546025 | RAI1 | c.700C>A (p.His234Asn) c.634C>A (p.His212Asn) | |
17 | g.17793648C>G | CA398546023 | RAI1 | c.700C>G (p.His234Asp) c.634C>G (p.His212Asp) | gnomAD v4 |
17 | g.17793648C>T | CA398546024 | RAI1 | c.700C>T (p.His234Tyr) c.634C>T (p.His212Tyr) |