Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.15192029_15192041delinsGGGTTCT | CA2695228451 | NOTCH3 | c.598_610delinsAGAACCC (p.Pro200_Ser204delinsArgThrPro) c.595_607delinsAGAACCC (p.Pro199_Ser203delinsArgThrPro) | |
19 | g.15192029_15192041delinsGGGGTTCT | CA2695228452 | NOTCH3 | c.598_610delinsAGAACCCC (p.Pro200ArgfsTer7) c.595_607delinsAGAACCCC (p.Pro199ArgfsTer7) | |
19 | g.15192031_15192035del | CA2520579772 | NOTCH3 | c.604_608del (p.Ala202LeufsTer5) c.601_605del (p.Ala201LeufsTer5) | |
19 | g.15192033T>A | CA506078674 | NOTCH3 | c.606A>T (p.Ala202=) c.603A>T (p.Ala201=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.15192033T>C | CA9263852 | NOTCH3 | c.606A>G (p.Ala202=) c.603A>G (p.Ala201=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15192033T>G | CA506078675 | NOTCH3 | c.606A>C (p.Ala202=) c.603A>C (p.Ala201=) | |
19 | g.15192033T= | CA2324749963 | NOTCH3 | c.606A= (p.Ala202=) c.603A= (p.Ala201=) | |
19 | g.15192033_15192034delinsCA | CA2739276579 | NOTCH3 | c.605_606delinsTG (p.Ala202Val) c.602_603delinsTG (p.Ala201Val) | |
19 | g.15192033_15192127delinsTGCACAGGGCACCGCGGGGTTCTCACATAGTGGCCCTGTGTAGCCAGCTGGACACTGGCAGCGGAAGGAGCCAGGTGTGTTGAGGCAGGTGCCAC | CA2324749964 | NOTCH3 | c.512_606delinsGTGGCACCTGCCTCAACACACCTGGCTCCTTCCGCTGCCAGTGTCCAGCTGGCTACACAGGGCCACTATGTGAGAACCCCGCGGTGCCCTGTGCA (p.Gly171=) c.509_603delinsGTGGCACCTGCCTCAACACACCTGGCTCCTTCCGCTGCCAGTGTCCAGCTGGCTACACAGGGCCACTATGTGAGAACCCCGCGGTGCCCTGTGCA (p.Gly170=) | |
19 | g.15192034G>A | CA9263853 | NOTCH3 | c.605C>T (p.Ala202Val) c.602C>T (p.Ala201Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
19 | g.15192034G>C | CA404533353 | NOTCH3 | c.605C>G (p.Ala202Gly) c.602C>G (p.Ala201Gly) | |
19 | g.15192034G= | CA2324749965 | NOTCH3 | c.605C= (p.Ala202=) c.602C= (p.Ala201=) | |
19 | g.15192034G>T | CA404533356 | NOTCH3 | c.605C>A (p.Ala202Glu) c.602C>A (p.Ala201Glu) | gnomAD v4 |
19 | g.15192034_15192127delinsT | CA1139666341 | NOTCH3 | c.512_605delinsA (p.Gly171_Ala202delinsGlu) c.509_602delinsA (p.Gly170_Ala201delinsGlu) | ClinVar dbSNP |
19 | g.15192035C>A | CA404533358 | NOTCH3 | c.604G>T (p.Ala202Ser) c.601G>T (p.Ala201Ser) | |
19 | g.15192035C>G | CA404533360 | NOTCH3 | c.604G>C (p.Ala202Pro) c.601G>C (p.Ala201Pro) | |
19 | g.15192035C>T | CA404533365 | NOTCH3 | c.604G>A (p.Ala202Thr) c.601G>A (p.Ala201Thr) | |
19 | g.15192036A>C | CA404533367 | NOTCH3 | c.603T>G (p.Cys201Trp) c.600T>G (p.Cys200Trp) | dbSNP |
19 | g.15192036A>G | CA506078676 | NOTCH3 | c.603T>C (p.Cys201=) c.600T>C (p.Cys200=) | |
19 | g.15192036A>T | CA404533370 | NOTCH3 | c.603T>A (p.Cys201Ter) c.600T>A (p.Cys200Ter) | |
19 | g.15192037C>A | CA404533373 | NOTCH3 | c.602G>T (p.Cys201Phe) c.599G>T (p.Cys200Phe) | ClinVar dbSNP |
19 | g.15192037C= | CA2324749966 | NOTCH3 | c.602G= (p.Cys201=) c.599G= (p.Cys200=) | |
19 | g.15192037C>G | CA404533375 | NOTCH3 | c.602G>C (p.Cys201Ser) c.599G>C (p.Cys200Ser) | ClinVar dbSNP |
19 | g.15192037C>T | CA404533376 | NOTCH3 | c.602G>A (p.Cys201Tyr) c.599G>A (p.Cys200Tyr) | ClinVar dbSNP |
19 | g.15192037_15192042del | CA2512937571 | NOTCH3 | c.597_602del (p.Pro200_Cys201del) c.594_599del (p.Pro199_Cys200del) | |
19 | g.15192038A= | CA2324749967 | NOTCH3 | c.601T= (p.Cys201=) c.598T= (p.Cys200=) | |
19 | g.15192038A>C | CA404533381 | NOTCH3 | c.601T>G (p.Cys201Gly) c.598T>G (p.Cys200Gly) | ClinVar dbSNP |
19 | g.15192038A>G | CA404533383 | NOTCH3 | c.601T>C (p.Cys201Arg) c.598T>C (p.Cys200Arg) | |
19 | g.15192038A>T | CA404533378 | NOTCH3 | c.601T>A (p.Cys201Ser) c.598T>A (p.Cys200Ser) | |
19 | g.15192039G>A | CA506078677 | NOTCH3 | c.600C>T (p.Pro200=) c.597C>T (p.Pro199=) | |
19 | g.15192039G>C | CA506078678 | NOTCH3 | c.600C>G (p.Pro200=) c.597C>G (p.Pro199=) | |
19 | g.15192039G= | CA2324749968 | NOTCH3 | c.600C= (p.Pro200=) c.597C= (p.Pro199=) | |
19 | g.15192039G>T | CA9263854 | NOTCH3 | c.600C>A (p.Pro200=) c.597C>A (p.Pro199=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.15192040G>A | CA404533386 | NOTCH3 | c.599C>T (p.Pro200Leu) c.596C>T (p.Pro199Leu) | gnomAD v4 |
19 | g.15192040G>C | CA404533388 | NOTCH3 | c.599C>G (p.Pro200Arg) c.596C>G (p.Pro199Arg) | gnomAD v4 |
19 | g.15192040G>T | CA404533390 | NOTCH3 | c.599C>A (p.Pro200His) c.596C>A (p.Pro199His) | |
19 | g.15192041G>A | CA404533392 | NOTCH3 | c.598C>T (p.Pro200Ser) c.595C>T (p.Pro199Ser) | dbSNP |
19 | g.15192041G>C | CA404533393 | NOTCH3 | c.598C>G (p.Pro200Ala) c.595C>G (p.Pro199Ala) | |
19 | g.15192041G>T | CA404533395 | NOTCH3 | c.598C>A (p.Pro200Thr) c.595C>A (p.Pro199Thr) | |
19 | g.15192042C>A | CA506078683 | NOTCH3 | c.597G>T (p.Val199=) c.594G>T (p.Val198=) | |
19 | g.15192042C= | CA2324749969 | NOTCH3 | c.597G= (p.Val199=) c.594G= (p.Val198=) | |
19 | g.15192042C>G | CA506078682 | NOTCH3 | c.597G>C (p.Val199=) c.594G>C (p.Val198=) | |
19 | g.15192042C>T | CA9263855 | NOTCH3 | c.597G>A (p.Val199=) c.594G>A (p.Val198=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.15192043A>C | CA404533400 | NOTCH3 | c.596T>G (p.Val199Gly) c.593T>G (p.Val198Gly) | |
19 | g.15192043A>G | CA404533401 | NOTCH3 | c.596T>C (p.Val199Ala) c.593T>C (p.Val198Ala) | |
19 | g.15192043A>T | CA404533403 | NOTCH3 | c.596T>A (p.Val199Glu) c.593T>A (p.Val198Glu) | dbSNP |
19 | g.15192044C>A | CA404533404 | NOTCH3 | c.595G>T (p.Val199Leu) c.592G>T (p.Val198Leu) | |
19 | g.15192044C>G | CA404533407 | NOTCH3 | c.595G>C (p.Val199Leu) c.592G>C (p.Val198Leu) | |
19 | g.15192044C>T | CA404533410 | NOTCH3 | c.595G>A (p.Val199Met) c.592G>A (p.Val198Met) | dbSNP gnomAD v4 |
19 | g.15192045C>A | CA506078684 | NOTCH3 | c.594G>T (p.Ala198=) c.591G>T (p.Ala197=) | gnomAD v4 |