Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.15192002T>A | CA404533198 | NOTCH3 | c.637A>T (p.Arg213Trp) c.634A>T (p.Arg212Trp) | |
19 | g.15192002T>C | CA404533200 | NOTCH3 | c.637A>G (p.Arg213Gly) c.634A>G (p.Arg212Gly) | gnomAD v4 |
19 | g.15192002T>G | CA506078643 | NOTCH3 | c.637A>C (p.Arg213=) c.634A>C (p.Arg212=) | dbSNP gnomAD v4 |
19 | g.15192002T= | CA2324749945 | NOTCH3 | c.637A= (p.Arg213=) c.634A= (p.Arg212=) | |
19 | g.15192003G>A | CA9263841 | NOTCH3 | c.636C>T (p.Cys212=) c.633C>T (p.Cys211=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.15192003G>C | CA404533208 | NOTCH3 | c.636C>G (p.Cys212Trp) c.633C>G (p.Cys211Trp) | |
19 | g.15192003G= | CA2324749946 | NOTCH3 | c.636C= (p.Cys212=) c.633C= (p.Cys211=) | |
19 | g.15192003G>T | CA404533211 | NOTCH3 | c.636C>A (p.Cys212Ter) c.633C>A (p.Cys211Ter) | |
19 | g.15192004C>A | CA404533214 | NOTCH3 | c.635G>T (p.Cys212Phe) c.632G>T (p.Cys211Phe) | |
19 | g.15192004C= | CA2324749947 | NOTCH3 | c.635G= (p.Cys212=) c.632G= (p.Cys211=) | |
19 | g.15192004C>G | CA404533217 | NOTCH3 | c.635G>C (p.Cys212Ser) c.632G>C (p.Cys211Ser) | |
19 | g.15192004C>T | CA9263842 | NOTCH3 | c.635G>A (p.Cys212Tyr) c.632G>A (p.Cys211Tyr) | dbSNP ExAC gnomAD v2 |
19 | g.15192005A= | CA2324749948 | NOTCH3 | c.634T= (p.Cys212=) c.631T= (p.Cys211=) | |
19 | g.15192005A>C | CA404533222 | NOTCH3 | c.634T>G (p.Cys212Gly) c.631T>G (p.Cys211Gly) | ClinVar |
19 | g.15192005A>G | CA404533223 | NOTCH3 | c.634T>C (p.Cys212Arg) c.631T>C (p.Cys211Arg) | ClinVar dbSNP |
19 | g.15192005A>T | CA404533226 | NOTCH3 | c.634T>A (p.Cys212Ser) c.631T>A (p.Cys211Ser) | ClinVar dbSNP gnomAD v4 |
19 | g.15192006G>A | CA9263843 | NOTCH3 | c.633C>T (p.Thr211=) c.630C>T (p.Thr210=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.15192006G>C | CA506078648 | NOTCH3 | c.633C>G (p.Thr211=) c.630C>G (p.Thr210=) | |
19 | g.15192006G= | CA2324749949 | NOTCH3 | c.633C= (p.Thr211=) c.630C= (p.Thr210=) | |
19 | g.15192006G>T | CA506078646 | NOTCH3 | c.633C>A (p.Thr211=) c.630C>A (p.Thr210=) | |
19 | g.15192007G>A | CA9263844 | NOTCH3 | c.632C>T (p.Thr211Ile) c.629C>T (p.Thr210Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15192007G>C | CA404533229 | NOTCH3 | c.632C>G (p.Thr211Ser) c.629C>G (p.Thr210Ser) | |
19 | g.15192007G= | CA2324749950 | NOTCH3 | c.632C= (p.Thr211=) c.629C= (p.Thr210=) | |
19 | g.15192007G>T | CA404533231 | NOTCH3 | c.632C>A (p.Thr211Asn) c.629C>A (p.Thr210Asn) | |
19 | g.15192008T>A | CA404533232 | NOTCH3 | c.631A>T (p.Thr211Ser) c.628A>T (p.Thr210Ser) | |
19 | g.15192008T>C | CA404533234 | NOTCH3 | c.631A>G (p.Thr211Ala) c.628A>G (p.Thr210Ala) | |
19 | g.15192008T>G | CA404533235 | NOTCH3 | c.631A>C (p.Thr211Pro) c.628A>C (p.Thr210Pro) | gnomAD v4 |
19 | g.15192009G>A | CA506078649 | NOTCH3 | c.630C>T (p.Gly210=) c.627C>T (p.Gly209=) | gnomAD v4 |
19 | g.15192009G>C | CA305777812 | NOTCH3 | c.630C>G (p.Gly210=) c.627C>G (p.Gly209=) | dbSNP |
19 | g.15192009G= | CA2324749951 | NOTCH3 | c.630C= (p.Gly210=) c.627C= (p.Gly209=) | |
19 | g.15192009G>T | CA506078650 | NOTCH3 | c.630C>A (p.Gly210=) c.627C>A (p.Gly209=) | |
19 | g.15192010C>A | CA404533238 | NOTCH3 | c.629G>T (p.Gly210Val) c.626G>T (p.Gly209Val) | |
19 | g.15192010C>G | CA404533239 | NOTCH3 | c.629G>C (p.Gly210Ala) c.626G>C (p.Gly209Ala) | gnomAD v4 COSMIC COSMIC |
19 | g.15192010C>T | CA404533240 | NOTCH3 | c.629G>A (p.Gly210Asp) c.626G>A (p.Gly209Asp) | dbSNP gnomAD v4 |
19 | g.15192014del | CA2583065621 | NOTCH3 | c.629del (p.Gly210AlafsTer26) c.626del (p.Gly209AlafsTer26) | gnomAD v4 |
19 | g.15192011C>A | CA404533243 | NOTCH3 | c.628G>T (p.Gly210Cys) c.625G>T (p.Gly209Cys) | |
19 | g.15192011C= | CA2324749952 | NOTCH3 | c.628G= (p.Gly210=) c.625G= (p.Gly209=) | |
19 | g.15192011C>G | CA404533246 | NOTCH3 | c.628G>C (p.Gly210Arg) c.625G>C (p.Gly209Arg) | |
19 | g.15192011C>T | CA404533248 | NOTCH3 | c.628G>A (p.Gly210Ser) c.625G>A (p.Gly209Ser) | dbSNP |
19 | g.15192012C>A | CA506078651 | NOTCH3 | c.627G>T (p.Gly209=) c.624G>T (p.Gly208=) | dbSNP |
19 | g.15192012C= | CA2324749953 | NOTCH3 | c.627G= (p.Gly209=) c.624G= (p.Gly208=) | |
19 | g.15192012C>G | CA506078653 | NOTCH3 | c.627G>C (p.Gly209=) c.624G>C (p.Gly208=) | |
19 | g.15192012C>T | CA506078654 | NOTCH3 | c.627G>A (p.Gly209=) c.624G>A (p.Gly208=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.15192013C>A | CA404533249 | NOTCH3 | c.626G>T (p.Gly209Val) c.623G>T (p.Gly208Val) | |
19 | g.15192013C>G | CA404533252 | NOTCH3 | c.626G>C (p.Gly209Ala) c.623G>C (p.Gly208Ala) | |
19 | g.15192013C>T | CA404533251 | NOTCH3 | c.626G>A (p.Gly209Glu) c.623G>A (p.Gly208Glu) | dbSNP COSMIC COSMIC |
19 | g.15192014C>A | CA404533253 | NOTCH3 | c.625G>T (p.Gly209Trp) c.622G>T (p.Gly208Trp) | |
19 | g.15192014C= | CA2324749954 | NOTCH3 | c.625G= (p.Gly209=) c.622G= (p.Gly208=) | |
19 | g.15192014C>G | CA404533254 | NOTCH3 | c.625G>C (p.Gly209Arg) c.622G>C (p.Gly208Arg) | |
19 | g.15192014C>T | CA9263845 | NOTCH3 | c.625G>A (p.Gly209Arg) c.622G>A (p.Gly208Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15192015G>A | CA9263846 | NOTCH3 | c.624C>T (p.Asn208=) c.621C>T (p.Asn207=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15192015G>C | CA404533258 | NOTCH3 | c.624C>G (p.Asn208Lys) c.621C>G (p.Asn207Lys) | |
19 | g.15192015G= | CA2324749955 | NOTCH3 | c.624C= (p.Asn208=) c.621C= (p.Asn207=) | |
19 | g.15192015G>T | CA404533259 | NOTCH3 | c.624C>A (p.Asn208Lys) c.621C>A (p.Asn207Lys) | |
19 | g.15192016T>A | CA404533262 | NOTCH3 | c.623A>T (p.Asn208Ile) c.620A>T (p.Asn207Ile) | |
19 | g.15192016T>C | CA404533263 | NOTCH3 | c.623A>G (p.Asn208Ser) c.620A>G (p.Asn207Ser) | |
19 | g.15192016T>G | CA404533266 | NOTCH3 | c.623A>C (p.Asn208Thr) c.620A>C (p.Asn207Thr) | |
19 | g.15192017T>A | CA404533268 | NOTCH3 | c.622A>T (p.Asn208Tyr) c.619A>T (p.Asn207Tyr) | |
19 | g.15192017T>C | CA404533270 | NOTCH3 | c.622A>G (p.Asn208Asp) c.619A>G (p.Asn207Asp) | gnomAD v4 |
19 | g.15192017T>G | CA404533272 | NOTCH3 | c.622A>C (p.Asn208His) c.619A>C (p.Asn207His) | |
19 | g.15192018A>C | CA506078658 | NOTCH3 | c.621T>G (p.Arg207=) c.618T>G (p.Arg206=) | |
19 | g.15192018A>G | CA506078659 | NOTCH3 | c.621T>C (p.Arg207=) c.618T>C (p.Arg206=) | |
19 | g.15192018A>T | CA506078660 | NOTCH3 | c.621T>A (p.Arg207=) c.618T>A (p.Arg206=) | dbSNP |
19 | g.15192019C>A | CA404533279 | NOTCH3 | c.620G>T (p.Arg207Leu) c.617G>T (p.Arg206Leu) | |
19 | g.15192019C= | CA2324749956 | NOTCH3 | c.620G= (p.Arg207=) c.617G= (p.Arg206=) | |
19 | g.15192019C>G | CA404533276 | NOTCH3 | c.620G>C (p.Arg207Pro) c.617G>C (p.Arg206Pro) | dbSNP |
19 | g.15192019C>T | CA9263847 | NOTCH3 | c.620G>A (p.Arg207His) c.617G>A (p.Arg206His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15192020G>A | CA9263848 | NOTCH3 | c.619C>T (p.Arg207Cys) c.616C>T (p.Arg206Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15192020G>C | CA404533282 | NOTCH3 | c.619C>G (p.Arg207Gly) c.616C>G (p.Arg206Gly) | gnomAD v4 |
19 | g.15192020G= | CA2324749957 | NOTCH3 | c.619C= (p.Arg207=) c.616C= (p.Arg206=) | |
19 | g.15192020G>T | CA404533284 | NOTCH3 | c.619C>A (p.Arg207Ser) c.616C>A (p.Arg206Ser) | |
19 | g.15192021G>A | CA506078662 | NOTCH3 | c.618C>T (p.Cys206=) c.615C>T (p.Cys205=) | dbSNP |
19 | g.15192021G>C | CA404533286 | NOTCH3 | c.618C>G (p.Cys206Trp) c.615C>G (p.Cys205Trp) | dbSNP |
19 | g.15192021G>T | CA404533289 | NOTCH3 | c.618C>A (p.Cys206Ter) c.615C>A (p.Cys205Ter) | |
19 | g.15192022C>A | CA404533291 | NOTCH3 | c.617G>T (p.Cys206Phe) c.614G>T (p.Cys205Phe) | |
19 | g.15192022C= | CA2324749958 | NOTCH3 | c.617G= (p.Cys206=) c.614G= (p.Cys205=) | |
19 | g.15192022C>G | CA404533294 | NOTCH3 | c.617G>C (p.Cys206Ser) c.614G>C (p.Cys205Ser) | |
19 | g.15192022C>T | CA404533296 | NOTCH3 | c.617G>A (p.Cys206Tyr) c.614G>A (p.Cys205Tyr) | ClinVar dbSNP |
19 | g.15192023A>C | CA404533299 | NOTCH3 | c.616T>G (p.Cys206Gly) c.613T>G (p.Cys205Gly) | |
19 | g.15192023A>G | CA404533301 | NOTCH3 | c.616T>C (p.Cys206Arg) c.613T>C (p.Cys205Arg) | |
19 | g.15192023A>T | CA404533303 | NOTCH3 | c.616T>A (p.Cys206Ser) c.613T>A (p.Cys205Ser) | |
19 | g.15192024T>A | CA506078663 | NOTCH3 | c.615A>T (p.Pro205=) c.612A>T (p.Pro204=) | |
19 | g.15192024T>C | CA506078665 | NOTCH3 | c.615A>G (p.Pro205=) c.612A>G (p.Pro204=) | dbSNP gnomAD v4 |
19 | g.15192024T>G | CA506078666 | NOTCH3 | c.615A>C (p.Pro205=) c.612A>C (p.Pro204=) | |
19 | g.15192024T= | CA2324749959 | NOTCH3 | c.615A= (p.Pro205=) c.612A= (p.Pro204=) | |
19 | g.15192025G>A | CA404533308 | NOTCH3 | c.614C>T (p.Pro205Leu) c.611C>T (p.Pro204Leu) | dbSNP |
19 | g.15192025G>C | CA404533309 | NOTCH3 | c.614C>G (p.Pro205Arg) c.611C>G (p.Pro204Arg) | |
19 | g.15192025G>T | CA404533306 | NOTCH3 | c.614C>A (p.Pro205Gln) c.611C>A (p.Pro204Gln) | |
19 | g.15192026G>A | CA404533316 | NOTCH3 | c.613C>T (p.Pro205Ser) c.610C>T (p.Pro204Ser) | gnomAD v4 |
19 | g.15192026G>C | CA404533312 | NOTCH3 | c.613C>G (p.Pro205Ala) c.610C>G (p.Pro204Ala) | |
19 | g.15192026G= | CA2324749960 | NOTCH3 | c.613C= (p.Pro205=) c.610C= (p.Pro204=) | |
19 | g.15192026G>T | CA9263849 | NOTCH3 | c.613C>A (p.Pro205Thr) c.610C>A (p.Pro204Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15192027T>A | CA506078669 | NOTCH3 | c.612A>T (p.Ser204=) c.609A>T (p.Ser203=) | |
19 | g.15192027T>C | CA506078670 | NOTCH3 | c.612A>G (p.Ser204=) c.609A>G (p.Ser203=) | |
19 | g.15192027T>G | CA506078671 | NOTCH3 | c.612A>C (p.Ser204=) c.609A>C (p.Ser203=) | |
19 | g.15192028G>A | CA404533318 | NOTCH3 | c.611C>T (p.Ser204Leu) c.608C>T (p.Ser203Leu) | |
19 | g.15192028G>C | CA404533321 | NOTCH3 | c.611C>G (p.Ser204Ter) c.608C>G (p.Ser203Ter) | |
19 | g.15192028G>T | CA404533330 | NOTCH3 | c.611C>A (p.Ser204Ter) c.608C>A (p.Ser203Ter) | |
19 | g.15192029A>C | CA404533333 | NOTCH3 | c.610T>G (p.Ser204Ala) c.607T>G (p.Ser203Ala) | |
19 | g.15192029A>G | CA404533336 | NOTCH3 | c.610T>C (p.Ser204Pro) c.607T>C (p.Ser203Pro) | dbSNP |
19 | g.15192029A>T | CA404533337 | NOTCH3 | c.610T>A (p.Ser204Thr) c.607T>A (p.Ser203Thr) | |
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.15192030G>A | CA9263850 | NOTCH3 | c.609C>T (p.Pro203=) c.606C>T (p.Pro202=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.15192030G>C | CA506078672 | NOTCH3 | c.609C>G (p.Pro203=) c.606C>G (p.Pro202=) | |
19 | g.15192030G= | CA2324749961 | NOTCH3 | c.609C= (p.Pro203=) c.606C= (p.Pro202=) | |
19 | g.15192030G>T | CA506078673 | NOTCH3 | c.609C>A (p.Pro203=) c.606C>A (p.Pro202=) | |
19 | g.15192031G>A | CA9263851 | NOTCH3 | c.608C>T (p.Pro203Leu) c.605C>T (p.Pro202Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.15192031G>C | CA404533341 | NOTCH3 | c.608C>G (p.Pro203Arg) c.605C>G (p.Pro202Arg) | |
19 | g.15192031G= | CA2324749962 | NOTCH3 | c.608C= (p.Pro203=) c.605C= (p.Pro202=) | |
19 | g.15192031G>T | CA404533344 | NOTCH3 | c.608C>A (p.Pro203His) c.605C>A (p.Pro202His) | |
19 | g.15192031_15192035del | CA2520579772 | NOTCH3 | c.604_608del (p.Ala202LeufsTer5) c.601_605del (p.Ala201LeufsTer5) | |
19 | g.15192032G>A | CA404533350 | NOTCH3 | c.607C>T (p.Pro203Ser) c.604C>T (p.Pro202Ser) | gnomAD v4 |
19 | g.15192032G>C | CA404533347 | NOTCH3 | c.607C>G (p.Pro203Ala) c.604C>G (p.Pro202Ala) | |
19 | g.15192032G>T | CA404533348 | NOTCH3 | c.607C>A (p.Pro203Thr) c.604C>A (p.Pro202Thr) | |
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) | ClinVar |
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 |
19 | g.15192045C= | CA2324749970 | NOTCH3 | c.594G= (p.Ala198=) c.591G= (p.Ala197=) | |
19 | g.15192045C>G | CA506078685 | NOTCH3 | c.594G>C (p.Ala198=) c.591G>C (p.Ala197=) | dbSNP gnomAD v4 |
19 | g.15192045C>T | CA9263856 | NOTCH3 | c.594G>A (p.Ala198=) c.591G>A (p.Ala197=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15192046G>A | CA9263857 | NOTCH3 | c.593C>T (p.Ala198Val) c.590C>T (p.Ala197Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15192046G>C | CA404533416 | NOTCH3 | c.593C>G (p.Ala198Gly) c.590C>G (p.Ala197Gly) | |
19 | g.15192046G= | CA2324749971 | NOTCH3 | c.593C= (p.Ala198=) c.590C= (p.Ala197=) | |
19 | g.15192046G>T | CA404533415 | NOTCH3 | c.593C>A (p.Ala198Glu) c.590C>A (p.Ala197Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15192047C>A | CA404533419 | NOTCH3 | c.592G>T (p.Ala198Ser) c.589G>T (p.Ala197Ser) | |
19 | g.15192047C= | CA2324749972 | NOTCH3 | c.592G= (p.Ala198=) c.589G= (p.Ala197=) | |
19 | g.15192047C>G | CA404533421 | NOTCH3 | c.592G>C (p.Ala198Pro) c.589G>C (p.Ala197Pro) | |
19 | g.15192047C>T | CA9263858 | NOTCH3 | c.592G>A (p.Ala198Thr) c.589G>A (p.Ala197Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15192048G>A | CA9263859 | NOTCH3 | c.591C>T (p.Pro197=) c.588C>T (p.Pro196=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15192048G>C | CA506078687 | NOTCH3 | c.591C>G (p.Pro197=) c.588C>G (p.Pro196=) | dbSNP |
19 | g.15192048G= | CA2324749973 | NOTCH3 | c.591C= (p.Pro197=) c.588C= (p.Pro196=) | |
19 | g.15192048G>T | CA506078688 | NOTCH3 | c.591C>A (p.Pro197=) c.588C>A (p.Pro196=) | |
19 | g.15192049G>A | CA404533422 | NOTCH3 | c.590C>T (p.Pro197Leu) c.587C>T (p.Pro196Leu) | dbSNP |
19 | g.15192049G>C | CA404533423 | NOTCH3 | c.590C>G (p.Pro197Arg) c.587C>G (p.Pro196Arg) | gnomAD v4 |
19 | g.15192049G= | CA2324749974 | NOTCH3 | c.590C= (p.Pro197=) c.587C= (p.Pro196=) | |
19 | g.15192049G>T | CA404533424 | NOTCH3 | c.590C>A (p.Pro197His) c.587C>A (p.Pro196His) | dbSNP gnomAD v4 |
19 | g.15192050G>A | CA9263860 | NOTCH3 | c.589C>T (p.Pro197Ser) c.586C>T (p.Pro196Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15192050G>C | CA404533426 | NOTCH3 | c.589C>G (p.Pro197Ala) c.586C>G (p.Pro196Ala) | gnomAD v4 |
19 | g.15192050G= | CA2324749975 | NOTCH3 | c.589C= (p.Pro197=) c.586C= (p.Pro196=) | |
19 | g.15192050G>T | CA404533427 | NOTCH3 | c.589C>A (p.Pro197Thr) c.586C>A (p.Pro196Thr) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.15192051G>A | CA506078692 | NOTCH3 | c.588C>T (p.Asn196=) c.585C>T (p.Asn195=) | dbSNP |
19 | g.15192051G>C | CA404533428 | NOTCH3 | c.588C>G (p.Asn196Lys) c.585C>G (p.Asn195Lys) | |
19 | g.15192051G>T | CA404533429 | NOTCH3 | c.588C>A (p.Asn196Lys) c.585C>A (p.Asn195Lys) | |
19 | g.15192052T>A | CA404533430 | NOTCH3 | c.587A>T (p.Asn196Ile) c.584A>T (p.Asn195Ile) | |
19 | g.15192052T>C | CA404533433 | NOTCH3 | c.587A>G (p.Asn196Ser) c.584A>G (p.Asn195Ser) | |
19 | g.15192052T>G | CA404533432 | NOTCH3 | c.587A>C (p.Asn196Thr) c.584A>C (p.Asn195Thr) | dbSNP |
19 | g.15192053T>A | CA404533437 | NOTCH3 | c.586A>T (p.Asn196Tyr) c.583A>T (p.Asn195Tyr) | |
19 | g.15192053T>C | CA404533441 | NOTCH3 | c.586A>G (p.Asn196Asp) c.583A>G (p.Asn195Asp) | |
19 | g.15192053T>G | CA404533438 | NOTCH3 | c.586A>C (p.Asn196His) c.583A>C (p.Asn195His) | |
19 | g.15192054C>A | CA404533442 | NOTCH3 | c.585G>T (p.Glu195Asp) c.582G>T (p.Glu194Asp) | |
19 | g.15192054C= | CA2324749976 | NOTCH3 | c.585G= (p.Glu195=) c.582G= (p.Glu194=) | |
19 | g.15192054C>G | CA404533444 | NOTCH3 | c.585G>C (p.Glu195Asp) c.582G>C (p.Glu194Asp) | |
19 | g.15192054C>T | CA506078696 | NOTCH3 | c.585G>A (p.Glu195=) c.582G>A (p.Glu194=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.15192055T>A | CA404533447 | NOTCH3 | c.584A>T (p.Glu195Val) c.581A>T (p.Glu194Val) | dbSNP |
19 | g.15192055T>C | CA404533448 | NOTCH3 | c.584A>G (p.Glu195Gly) c.581A>G (p.Glu194Gly) | dbSNP |
19 | g.15192055T>G | CA404533451 | NOTCH3 | c.584A>C (p.Glu195Ala) c.581A>C (p.Glu194Ala) | |
19 | g.15192056C>A | CA404533453 | NOTCH3 | c.583G>T (p.Glu195Ter) c.580G>T (p.Glu194Ter) | |
19 | g.15192056C= | CA2324749977 | NOTCH3 | c.583G= (p.Glu195=) c.580G= (p.Glu194=) | |
19 | g.15192056C>G | CA404533454 | NOTCH3 | c.583G>C (p.Glu195Gln) c.580G>C (p.Glu194Gln) | |
19 | g.15192056C>T | CA404533455 | NOTCH3 | c.583G>A (p.Glu195Lys) c.580G>A (p.Glu194Lys) | ClinVar dbSNP gnomAD v4 |
19 | g.15192057A>C | CA404533461 | NOTCH3 | c.582T>G (p.Cys194Trp) c.579T>G (p.Cys193Trp) | |
19 | g.15192057A>G | CA506078697 | NOTCH3 | c.582T>C (p.Cys194=) c.579T>C (p.Cys193=) | |
19 | g.15192057A>T | CA404533459 | NOTCH3 | c.582T>A (p.Cys194Ter) c.579T>A (p.Cys193Ter) | |
19 | g.15192058C>A | CA404533463 | NOTCH3 | c.581G>T (p.Cys194Phe) c.578G>T (p.Cys193Phe) | ClinVar dbSNP |
19 | g.15192058C>G | CA404533465 | NOTCH3 | c.581G>C (p.Cys194Ser) c.578G>C (p.Cys193Ser) | |
19 | g.15192058C>T | CA404533466 | NOTCH3 | c.581G>A (p.Cys194Tyr) c.578G>A (p.Cys193Tyr) | ClinVar dbSNP |
19 | g.15192059A= | CA2324749978 | NOTCH3 | c.580T= (p.Cys194=) c.577T= (p.Cys193=) | |
19 | g.15192059A>C | CA404533470 | NOTCH3 | c.580T>G (p.Cys194Gly) c.577T>G (p.Cys193Gly) | |
19 | g.15192059A>G | CA404533472 | NOTCH3 | c.580T>C (p.Cys194Arg) c.577T>C (p.Cys193Arg) | ClinVar dbSNP |
19 | g.15192059A>T | CA404533474 | NOTCH3 | c.580T>A (p.Cys194Ser) c.577T>A (p.Cys193Ser) | ClinVar dbSNP |
19 | g.15192060T>A | CA506078699 | NOTCH3 | c.579A>T (p.Leu193=) c.576A>T (p.Leu192=) | |
19 | g.15192060T>C | CA506078700 | NOTCH3 | c.579A>G (p.Leu193=) c.576A>G (p.Leu192=) | gnomAD v4 |
19 | g.15192060T>G | CA506078701 | NOTCH3 | c.579A>C (p.Leu193=) c.576A>C (p.Leu192=) | ClinVar dbSNP gnomAD v4 |
19 | g.15192061A>C | CA404533478 | NOTCH3 | c.578T>G (p.Leu193Arg) c.575T>G (p.Leu192Arg) | dbSNP |
19 | g.15192061A>G | CA404533480 | NOTCH3 | c.578T>C (p.Leu193Pro) c.575T>C (p.Leu192Pro) | gnomAD v4 |
19 | g.15192061A>T | CA404533479 | NOTCH3 | c.578T>A (p.Leu193Gln) c.575T>A (p.Leu192Gln) | |
19 | g.15192062G>A | CA506078703 | NOTCH3 | c.577C>T (p.Leu193=) c.574C>T (p.Leu192=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.15192062G>C | CA404533483 | NOTCH3 | c.577C>G (p.Leu193Val) c.574C>G (p.Leu192Val) | |
19 | g.15192062G= | CA2324749979 | NOTCH3 | c.577C= (p.Leu193=) c.574C= (p.Leu192=) | |
19 | g.15192062G>T | CA404533486 | NOTCH3 | c.577C>A (p.Leu193Ile) c.574C>A (p.Leu192Ile) | |
19 | g.15192063T>A | CA506078706 | NOTCH3 | c.576A>T (p.Pro192=) c.573A>T (p.Pro191=) | dbSNP |
19 | g.15192063T>C | CA506078705 | NOTCH3 | c.576A>G (p.Pro192=) c.573A>G (p.Pro191=) | |
19 | g.15192063T>G | CA506078704 | NOTCH3 | c.576A>C (p.Pro192=) c.573A>C (p.Pro191=) | |
19 | g.15192064G>A | CA9263861 | NOTCH3 | c.575C>T (p.Pro192Leu) c.572C>T (p.Pro191Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.15192064G>C | CA404533488 | NOTCH3 | c.575C>G (p.Pro192Arg) c.572C>G (p.Pro191Arg) | |
19 | g.15192064G= | CA2324749980 | NOTCH3 | c.575C= (p.Pro192=) c.572C= (p.Pro191=) | |
19 | g.15192064G>T | CA404533490 | NOTCH3 | c.575C>A (p.Pro192Gln) c.572C>A (p.Pro191Gln) | |
19 | g.15192065G>A | CA404533492 | NOTCH3 | c.574C>T (p.Pro192Ser) c.571C>T (p.Pro191Ser) | dbSNP |
19 | g.15192065G>C | CA404533494 | NOTCH3 | c.574C>G (p.Pro192Ala) c.571C>G (p.Pro191Ala) | |
19 | g.15192065G>T | CA404533497 | NOTCH3 | c.574C>A (p.Pro192Thr) c.571C>A (p.Pro191Thr) | |
19 | g.15192066C>A | CA506078710 | NOTCH3 | c.573G>T (p.Gly191=) c.570G>T (p.Gly190=) | dbSNP |
19 | g.15192066C= | CA2324749981 | NOTCH3 | c.573G= (p.Gly191=) c.570G= (p.Gly190=) | |
19 | g.15192066C>G | CA506078708 | NOTCH3 | c.573G>C (p.Gly191=) c.570G>C (p.Gly190=) | |
19 | g.15192066C>T | CA305777900 | NOTCH3 | c.573G>A (p.Gly191=) c.570G>A (p.Gly190=) | dbSNP COSMIC COSMIC |
19 | g.15192067C>A | CA404533499 | NOTCH3 | c.572G>T (p.Gly191Val) c.569G>T (p.Gly190Val) | dbSNP |
19 | g.15192067C= | CA2324749982 | NOTCH3 | c.572G= (p.Gly191=) c.569G= (p.Gly190=) | |
19 | g.15192067C>G | CA404533500 | NOTCH3 | c.572G>C (p.Gly191Ala) c.569G>C (p.Gly190Ala) | |
19 | g.15192067C>T | CA404533501 | NOTCH3 | c.572G>A (p.Gly191Glu) c.569G>A (p.Gly190Glu) | |
19 | g.15192068C>A | CA404533504 | NOTCH3 | c.571G>T (p.Gly191Trp) c.568G>T (p.Gly190Trp) | |
19 | g.15192068C>G | CA404533508 | NOTCH3 | c.571G>C (p.Gly191Arg) c.568G>C (p.Gly190Arg) | |
19 | g.15192068C>T | CA404533505 | NOTCH3 | c.571G>A (p.Gly191Arg) c.568G>A (p.Gly190Arg) | |
19 | g.15192069T>A | CA506078711 | NOTCH3 | c.570A>T (p.Thr190=) c.567A>T (p.Thr189=) | dbSNP |
19 | g.15192069T>C | CA506078713 | NOTCH3 | c.570A>G (p.Thr190=) c.567A>G (p.Thr189=) | dbSNP |
19 | g.15192069T>G | CA506078712 | NOTCH3 | c.570A>C (p.Thr190=) c.567A>C (p.Thr189=) | |
19 | g.15192070G>A | CA404533510 | NOTCH3 | c.569C>T (p.Thr190Ile) c.566C>T (p.Thr189Ile) | dbSNP gnomAD v4 |
19 | g.15192070G>C | CA404533513 | NOTCH3 | c.569C>G (p.Thr190Arg) c.566C>G (p.Thr189Arg) | |
19 | g.15192070G>T | CA404533515 | NOTCH3 | c.569C>A (p.Thr190Lys) c.566C>A (p.Thr189Lys) | |
19 | g.15192071T>A | CA404533519 | NOTCH3 | c.568A>T (p.Thr190Ser) c.565A>T (p.Thr189Ser) | gnomAD v4 |
19 | g.15192071T>C | CA404533522 | NOTCH3 | c.568A>G (p.Thr190Ala) c.565A>G (p.Thr189Ala) | |
19 | g.15192071T>G | CA404533523 | NOTCH3 | c.568A>C (p.Thr190Pro) c.565A>C (p.Thr189Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15192071T= | CA2324749983 | NOTCH3 | c.568A= (p.Thr190=) c.565A= (p.Thr189=) | |
19 | g.15192072G>A | CA506078716 | NOTCH3 | c.567C>T (p.Tyr189=) c.564C>T (p.Tyr188=) | gnomAD v4 |
19 | g.15192072G>C | CA404533525 | NOTCH3 | c.567C>G (p.Tyr189Ter) c.564C>G (p.Tyr188Ter) | |
19 | g.15192072G>T | CA404533528 | NOTCH3 | c.567C>A (p.Tyr189Ter) c.564C>A (p.Tyr188Ter) | |
19 | g.15192073T>A | CA404533531 | NOTCH3 | c.566A>T (p.Tyr189Phe) c.563A>T (p.Tyr188Phe) | dbSNP gnomAD v4 |
19 | g.15192073T>C | CA404533534 | NOTCH3 | c.566A>G (p.Tyr189Cys) c.563A>G (p.Tyr188Cys) | ClinVar dbSNP |
19 | g.15192073T>G | CA404533536 | NOTCH3 | c.566A>C (p.Tyr189Ser) c.563A>C (p.Tyr188Ser) | dbSNP |
19 | g.15192074A>C | CA404533541 | NOTCH3 | c.565T>G (p.Tyr189Asp) c.562T>G (p.Tyr188Asp) | ClinVar |
19 | g.15192074A>G | CA404533539 | NOTCH3 | c.565T>C (p.Tyr189His) c.562T>C (p.Tyr188His) | |
19 | g.15192074A>T | CA404533538 | NOTCH3 | c.565T>A (p.Tyr189Asn) c.562T>A (p.Tyr188Asn) | |
19 | g.15192075G>A | CA506078717 | NOTCH3 | c.564C>T (p.Gly188=) c.561C>T (p.Gly187=) | |
19 | g.15192075G>C | CA506078718 | NOTCH3 | c.564C>G (p.Gly188=) c.561C>G (p.Gly187=) | |
19 | g.15192075G>T | CA506078720 | NOTCH3 | c.564C>A (p.Gly188=) c.561C>A (p.Gly187=) | |
19 | g.15192076C>A | CA404533544 | NOTCH3 | c.563G>T (p.Gly188Val) c.560G>T (p.Gly187Val) | gnomAD v4 |
19 | g.15192076C>G | CA404533546 | NOTCH3 | c.563G>C (p.Gly188Ala) c.560G>C (p.Gly187Ala) | |
19 | g.15192076C>T | CA404533547 | NOTCH3 | c.563G>A (p.Gly188Asp) c.560G>A (p.Gly187Asp) | |
19 | g.15192077C>A | CA404533550 | NOTCH3 | c.562G>T (p.Gly188Cys) c.559G>T (p.Gly187Cys) | |
19 | g.15192077C>G | CA404533552 | NOTCH3 | c.562G>C (p.Gly188Arg) c.559G>C (p.Gly187Arg) | |
19 | g.15192077C>T | CA404533553 | NOTCH3 | c.562G>A (p.Gly188Ser) c.559G>A (p.Gly187Ser) | |
19 | g.15192078A>C | CA506078723 | NOTCH3 | c.561T>G (p.Ala187=) c.558T>G (p.Ala186=) | |
19 | g.15192078A>G | CA506078724 | NOTCH3 | c.561T>C (p.Ala187=) c.558T>C (p.Ala186=) | |
19 | g.15192078A>T | CA506078725 | NOTCH3 | c.561T>A (p.Ala187=) c.558T>A (p.Ala186=) | |
19 | g.15192079G>A | CA404533556 | NOTCH3 | c.560C>T (p.Ala187Val) c.557C>T (p.Ala186Val) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.15192079G>C | CA404533558 | NOTCH3 | c.560C>G (p.Ala187Gly) c.557C>G (p.Ala186Gly) | dbSNP |
19 | g.15192079G= | CA2324749984 | NOTCH3 | c.560C= (p.Ala187=) c.557C= (p.Ala186=) | |
19 | g.15192079G>T | CA404533560 | NOTCH3 | c.560C>A (p.Ala187Asp) c.557C>A (p.Ala186Asp) | gnomAD v4 |
19 | g.15192080C>A | CA404533563 | NOTCH3 | c.559G>T (p.Ala187Ser) c.556G>T (p.Ala186Ser) | dbSNP |
19 | g.15192080C>G | CA404533565 | NOTCH3 | c.559G>C (p.Ala187Pro) c.556G>C (p.Ala186Pro) | dbSNP |
19 | g.15192080C>T | CA404533568 | NOTCH3 | c.559G>A (p.Ala187Thr) c.556G>A (p.Ala186Thr) | dbSNP |
19 | g.15192081T>A | CA506078728 | NOTCH3 | c.558A>T (p.Pro186=) c.555A>T (p.Pro185=) | dbSNP |
19 | g.15192081T>C | CA506078729 | NOTCH3 | c.558A>G (p.Pro186=) c.555A>G (p.Pro185=) | |
19 | g.15192081T>G | CA506078730 | NOTCH3 | c.558A>C (p.Pro186=) c.555A>C (p.Pro185=) | dbSNP |
19 | g.15192082G>A | CA404533572 | NOTCH3 | c.557C>T (p.Pro186Leu) c.554C>T (p.Pro185Leu) | ClinVar dbSNP |
19 | g.15192082G>C | CA404533575 | NOTCH3 | c.557C>G (p.Pro186Arg) c.554C>G (p.Pro185Arg) | dbSNP |
19 | g.15192082G= | CA2324749985 | NOTCH3 | c.557C= (p.Pro186=) c.554C= (p.Pro185=) | |
19 | g.15192082G>T | CA404533570 | NOTCH3 | c.557C>A (p.Pro186Gln) c.554C>A (p.Pro185Gln) | |
19 | g.15192083G>A | CA404533580 | NOTCH3 | c.556C>T (p.Pro186Ser) c.553C>T (p.Pro185Ser) | gnomAD v4 |
19 | g.15192083G>C | CA404533577 | NOTCH3 | c.556C>G (p.Pro186Ala) c.553C>G (p.Pro185Ala) | dbSNP |
19 | g.15192083G>T | CA404533578 | NOTCH3 | c.556C>A (p.Pro186Thr) c.553C>A (p.Pro185Thr) | |
19 | g.15192084A= | CA2324749986 | NOTCH3 | c.555T= (p.Cys185=) c.552T= (p.Cys184=) | |
19 | g.15192084A>C | CA404533583 | NOTCH3 | c.555T>G (p.Cys185Trp) c.552T>G (p.Cys184Trp) | ClinVar dbSNP |
19 | g.15192084A>G | CA506078732 | NOTCH3 | c.555T>C (p.Cys185=) c.552T>C (p.Cys184=) | dbSNP |
19 | g.15192084A>T | CA404533585 | NOTCH3 | c.555T>A (p.Cys185Ter) c.552T>A (p.Cys184Ter) | |
19 | g.15192085C>A | CA404533588 | NOTCH3 | c.554G>T (p.Cys185Phe) c.551G>T (p.Cys184Phe) | ClinVar dbSNP |
19 | g.15192085C= | CA2324749987 | NOTCH3 | c.554G= (p.Cys185=) c.551G= (p.Cys184=) | |
19 | g.15192085C>G | CA404533589 | NOTCH3 | c.554G>C (p.Cys185Ser) c.551G>C (p.Cys184Ser) | dbSNP |
19 | g.15192085C>T | CA404533592 | NOTCH3 | c.554G>A (p.Cys185Tyr) c.551G>A (p.Cys184Tyr) | ClinVar dbSNP |
19 | g.15192086A= | CA2324749988 | NOTCH3 | c.553T= (p.Cys185=) c.550T= (p.Cys184=) | |
19 | g.15192086A>C | CA404533598 | NOTCH3 | c.553T>G (p.Cys185Gly) c.550T>G (p.Cys184Gly) | ClinVar dbSNP |
19 | g.15192086A>G | CA404533599 | NOTCH3 | c.553T>C (p.Cys185Arg) c.550T>C (p.Cys184Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.15192086A>T | CA404533601 | NOTCH3 | c.553T>A (p.Cys185Ser) c.550T>A (p.Cys184Ser) | |
19 | g.15192087C>A | CA404533602 | NOTCH3 | c.552G>T (p.Gln184His) c.549G>T (p.Gln183His) | |
19 | g.15192087C>G | CA404533603 | NOTCH3 | c.552G>C (p.Gln184His) c.549G>C (p.Gln183His) | dbSNP |
19 | g.15192087C>T | CA506078736 | NOTCH3 | c.552G>A (p.Gln184=) c.549G>A (p.Gln183=) | dbSNP |
19 | g.15192088T>A | CA404533606 | NOTCH3 | c.551A>T (p.Gln184Leu) c.548A>T (p.Gln183Leu) | |
19 | g.15192088T>C | CA404533604 | NOTCH3 | c.551A>G (p.Gln184Arg) c.548A>G (p.Gln183Arg) | |
19 | g.15192088T>G | CA404533605 | NOTCH3 | c.551A>C (p.Gln184Pro) c.548A>C (p.Gln183Pro) | |
19 | g.15192089G>A | CA305777902 | NOTCH3 | c.550C>T (p.Gln184Ter) c.547C>T (p.Gln183Ter) | ClinVar dbSNP |
19 | g.15192089G>C | CA404533608 | NOTCH3 | c.550C>G (p.Gln184Glu) c.547C>G (p.Gln183Glu) | |
19 | g.15192089G= | CA2324749989 | NOTCH3 | c.550C= (p.Gln184=) c.547C= (p.Gln183=) | |
19 | g.15192089G>T | CA404533610 | NOTCH3 | c.550C>A (p.Gln184Lys) c.547C>A (p.Gln183Lys) | dbSNP |
19 | g.15192090G>A | CA506078738 | NOTCH3 | c.549C>T (p.Cys183=) c.546C>T (p.Cys182=) | |
19 | g.15192090G>C | CA404533612 | NOTCH3 | c.549C>G (p.Cys183Trp) c.546C>G (p.Cys182Trp) | |
19 | g.15192090G>T | CA404533614 | NOTCH3 | c.549C>A (p.Cys183Ter) c.546C>A (p.Cys182Ter) | |
19 | g.15192091C>A | CA404533618 | NOTCH3 | c.548G>T (p.Cys183Phe) c.545G>T (p.Cys182Phe) | ClinVar dbSNP |
19 | g.15192091C= | CA2324749990 | NOTCH3 | c.548G= (p.Cys183=) c.545G= (p.Cys182=) | |
19 | g.15192091C>G | CA404533619 | NOTCH3 | c.548G>C (p.Cys183Ser) c.545G>C (p.Cys182Ser) | |
19 | g.15192091C>T | CA404533621 | NOTCH3 | c.548G>A (p.Cys183Tyr) c.545G>A (p.Cys182Tyr) | ClinVar dbSNP |
19 | g.15192092A>C | CA404533623 | NOTCH3 | c.547T>G (p.Cys183Gly) c.544T>G (p.Cys182Gly) | |
19 | g.15192092A>G | CA404533625 | NOTCH3 | c.547T>C (p.Cys183Arg) c.544T>C (p.Cys182Arg) | ClinVar dbSNP |
19 | g.15192092A>T | CA404533627 | NOTCH3 | c.547T>A (p.Cys183Ser) c.544T>A (p.Cys182Ser) | ClinVar |
19 | g.15192093G>A | CA506078742 | NOTCH3 | c.546C>T (p.Arg182=) c.543C>T (p.Arg181=) | |
19 | g.15192093G>C | CA506078743 | NOTCH3 | c.546C>G (p.Arg182=) c.543C>G (p.Arg181=) | dbSNP |
19 | g.15192093G>T | CA506078744 | NOTCH3 | c.546C>A (p.Arg182=) c.543C>A (p.Arg181=) | |
19 | g.15192094C>A | CA9263862 | NOTCH3 | c.545G>T (p.Arg182Leu) c.542G>T (p.Arg181Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.15192094C= | CA2324749991 | NOTCH3 | c.545G= (p.Arg182=) c.542G= (p.Arg181=) | |
19 | g.15192094C>G | CA404533632 | NOTCH3 | c.545G>C (p.Arg182Pro) c.542G>C (p.Arg181Pro) | dbSNP |
19 | g.15192094C>T | CA305777903 | NOTCH3 | c.545G>A (p.Arg182His) c.542G>A (p.Arg181His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
19 | g.15192095G>A | CA340885 | NOTCH3 | c.544C>T (p.Arg182Cys) c.541C>T (p.Arg181Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15192095G>C | CA404533636 | NOTCH3 | c.544C>G (p.Arg182Gly) c.541C>G (p.Arg181Gly) | |
19 | g.15192095G= | CA2324749992 | NOTCH3 | c.544C= (p.Arg182=) c.541C= (p.Arg181=) | |
19 | g.15192095G>T | CA404533638 | NOTCH3 | c.544C>A (p.Arg182Ser) c.541C>A (p.Arg181Ser) | |
19 | g.15192096G>A | CA506078749 | NOTCH3 | c.543C>T (p.Phe181=) c.540C>T (p.Phe180=) | |
19 | g.15192096G>C | CA404533641 | NOTCH3 | c.543C>G (p.Phe181Leu) c.540C>G (p.Phe180Leu) | |
19 | g.15192096G>T | CA404533644 | NOTCH3 | c.543C>A (p.Phe181Leu) c.540C>A (p.Phe180Leu) | |
19 | g.15192097A>C | CA404533650 | NOTCH3 | c.542T>G (p.Phe181Cys) c.539T>G (p.Phe180Cys) | |
19 | g.15192097A>G | CA404533648 | NOTCH3 | c.542T>C (p.Phe181Ser) c.539T>C (p.Phe180Ser) | dbSNP |
19 | g.15192097A>T | CA404533647 | NOTCH3 | c.542T>A (p.Phe181Tyr) c.539T>A (p.Phe180Tyr) | |
19 | g.15192098A>C | CA404533653 | NOTCH3 | c.541T>G (p.Phe181Val) c.538T>G (p.Phe180Val) | |
19 | g.15192098A>G | CA404533656 | NOTCH3 | c.541T>C (p.Phe181Leu) c.538T>C (p.Phe180Leu) | dbSNP |
19 | g.15192098A>T | CA404533658 | NOTCH3 | c.541T>A (p.Phe181Ile) c.538T>A (p.Phe180Ile) | |
19 | g.15192099G>A | CA506078753 | NOTCH3 | c.540C>T (p.Ser180=) c.537C>T (p.Ser179=) | |
19 | g.15192099G>C | CA506078754 | NOTCH3 | c.540C>G (p.Ser180=) c.537C>G (p.Ser179=) | |
19 | g.15192099G>T | CA506078755 | NOTCH3 | c.540C>A (p.Ser180=) c.537C>A (p.Ser179=) | |
19 | g.15192100G>A | CA404533661 | NOTCH3 | c.539C>T (p.Ser180Phe) c.536C>T (p.Ser179Phe) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.15192100G>C | CA404533662 | NOTCH3 | c.539C>G (p.Ser180Cys) c.536C>G (p.Ser179Cys) | |
19 | g.15192100G= | CA2324749993 | NOTCH3 | c.539C= (p.Ser180=) c.536C= (p.Ser179=) | |
19 | g.15192100G>T | CA404533663 | NOTCH3 | c.539C>A (p.Ser180Tyr) c.536C>A (p.Ser179Tyr) | |
19 | g.15192101A>C | CA404533666 | NOTCH3 | c.538T>G (p.Ser180Ala) c.535T>G (p.Ser179Ala) | |
19 | g.15192101A>G | CA404533669 | NOTCH3 | c.538T>C (p.Ser180Pro) c.535T>C (p.Ser179Pro) | |
19 | g.15192101A>T | CA404533667 | NOTCH3 | c.538T>A (p.Ser180Thr) c.535T>A (p.Ser179Thr) | gnomAD v4 |
19 | g.15192102G>A | CA506078757 | NOTCH3 | c.537C>T (p.Gly179=) c.534C>T (p.Gly178=) | |
19 | g.15192102G>C | CA506078758 | NOTCH3 | c.537C>G (p.Gly179=) c.534C>G (p.Gly178=) | |
19 | g.15192102G>T | CA506078759 | NOTCH3 | c.537C>A (p.Gly179=) c.534C>A (p.Gly178=) |