Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.142515447_142515450delinsCCCA | CA1407011980 | ATR | c.4448_4451delinsTGGG (p.Leu1483=) n.4477_4480delinsTGGG c.3238_3241delinsTGGG c.4256_4259delinsTGGG (p.Leu1419=) c.4454_4457delinsTGGG (p.Leu1485=) c.4262_4265delinsTGGG (p.Leu1421=) n.4543_4546delinsTGGG n.4537_4540delinsTGGG | |
3 | g.142515448C>A | CA354798163 | ATR | c.4450G>T (p.Gly1484Cys) n.4479G>T c.3240G>T c.4258G>T (p.Gly1420Cys) c.4456G>T (p.Gly1486Cys) c.4264G>T (p.Gly1422Cys) n.4545G>T n.4539G>T | ClinVar |
3 | g.142515448C= | CA1407011981 | ATR | c.4450G= (p.Gly1484=) n.4479G= c.3240G= c.4258G= (p.Gly1420=) c.4456G= (p.Gly1486=) c.4264G= (p.Gly1422=) n.4545G= n.4539G= | |
3 | g.142515448C>G | CA354798165 | ATR | c.4450G>C (p.Gly1484Arg) n.4479G>C c.3240G>C c.4258G>C (p.Gly1420Arg) c.4456G>C (p.Gly1486Arg) c.4264G>C (p.Gly1422Arg) n.4545G>C n.4539G>C | |
3 | g.142515448C>T | CA2649848 | ATR | c.4450G>A (p.Gly1484Ser) n.4479G>A c.3240G>A c.4258G>A (p.Gly1420Ser) c.4456G>A (p.Gly1486Ser) c.4264G>A (p.Gly1422Ser) n.4545G>A n.4539G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.142515448_142515450del | CA2649847 | ATR | c.4448_4450del (p.Leu1483_Gly1484delinsCys) n.4477_4479del c.3238_3240del c.4256_4258del (p.Leu1419_Gly1420delinsCys) c.4454_4456del (p.Leu1485_Gly1486delinsCys) c.4262_4264del (p.Leu1421_Gly1422delinsCys) n.4543_4545del n.4537_4539del | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.142515449C>A | CA354798166 | ATR | c.4449G>T (p.Leu1483Phe) n.4478G>T c.3239G>T c.4257G>T (p.Leu1419Phe) c.4455G>T (p.Leu1485Phe) c.4263G>T (p.Leu1421Phe) n.4544G>T n.4538G>T | dbSNP |
3 | g.142515449C>G | CA354798168 | ATR | c.4449G>C (p.Leu1483Phe) n.4478G>C c.3239G>C c.4257G>C (p.Leu1419Phe) c.4455G>C (p.Leu1485Phe) c.4263G>C (p.Leu1421Phe) n.4544G>C n.4538G>C | |
3 | g.142515449C>T | CA436108102 | ATR | c.4449G>A (p.Leu1483=) n.4478G>A c.3239G>A c.4257G>A (p.Leu1419=) c.4455G>A (p.Leu1485=) c.4263G>A (p.Leu1421=) n.4544G>A n.4538G>A | |
3 | g.142515450A>C | CA354798177 | ATR | c.4448T>G (p.Leu1483Trp) n.4477T>G c.3238T>G c.4256T>G (p.Leu1419Trp) c.4454T>G (p.Leu1485Trp) c.4262T>G (p.Leu1421Trp) n.4543T>G n.4537T>G | |
3 | g.142515450A>G | CA354798175 | ATR | c.4448T>C (p.Leu1483Ser) n.4477T>C c.3238T>C c.4256T>C (p.Leu1419Ser) c.4454T>C (p.Leu1485Ser) c.4262T>C (p.Leu1421Ser) n.4543T>C n.4537T>C | |
3 | g.142515450A>T | CA354798173 | ATR | c.4448T>A (p.Leu1483Ter) n.4477T>A c.3238T>A c.4256T>A (p.Leu1419Ter) c.4454T>A (p.Leu1485Ter) c.4262T>A (p.Leu1421Ter) n.4543T>A n.4537T>A | |
3 | g.142515451A= | CA1407011982 | ATR | c.4447T= (p.Leu1483=) n.4476T= c.3237T= c.4255T= (p.Leu1419=) c.4453T= (p.Leu1485=) c.4261T= (p.Leu1421=) n.4542T= n.4536T= | |
3 | g.142515451A>C | CA354798178 | ATR | c.4447T>G (p.Leu1483Val) n.4476T>G c.3237T>G c.4255T>G (p.Leu1419Val) c.4453T>G (p.Leu1485Val) c.4261T>G (p.Leu1421Val) n.4542T>G n.4536T>G | |
3 | g.142515451A>G | CA2649849 | ATR | c.4447T>C (p.Leu1483=) n.4476T>C c.3237T>C c.4255T>C (p.Leu1419=) c.4453T>C (p.Leu1485=) c.4261T>C (p.Leu1421=) n.4542T>C n.4536T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.142515451A>T | CA354798182 | ATR | c.4447T>A (p.Leu1483Met) n.4476T>A c.3237T>A c.4255T>A (p.Leu1419Met) c.4453T>A (p.Leu1485Met) c.4261T>A (p.Leu1421Met) n.4542T>A n.4536T>A | |
3 | g.142515452T>A | CA354798188 | ATR | c.4446A>T (p.Lys1482Asn) n.4475A>T c.3236A>T c.4254A>T (p.Lys1418Asn) c.4452A>T (p.Lys1484Asn) c.4260A>T (p.Lys1420Asn) n.4541A>T n.4535A>T | |
3 | g.142515452T>C | CA436108117 | ATR | c.4446A>G (p.Lys1482=) n.4475A>G c.3236A>G c.4254A>G (p.Lys1418=) c.4452A>G (p.Lys1484=) c.4260A>G (p.Lys1420=) n.4541A>G n.4535A>G | |
3 | g.142515452T>G | CA354798196 | ATR | c.4446A>C (p.Lys1482Asn) n.4475A>C c.3236A>C c.4254A>C (p.Lys1418Asn) c.4452A>C (p.Lys1484Asn) c.4260A>C (p.Lys1420Asn) n.4541A>C n.4535A>C | |
3 | g.142515453T>A | CA354798200 | ATR | c.4445A>T (p.Lys1482Ile) n.4474A>T c.3235A>T c.4253A>T (p.Lys1418Ile) c.4451A>T (p.Lys1484Ile) c.4259A>T (p.Lys1420Ile) n.4540A>T n.4534A>T | dbSNP |
3 | g.142515453T>C | CA2649850 | ATR | c.4445A>G (p.Lys1482Arg) n.4474A>G c.3235A>G c.4253A>G (p.Lys1418Arg) c.4451A>G (p.Lys1484Arg) c.4259A>G (p.Lys1420Arg) n.4540A>G n.4534A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.142515453T>G | CA354798209 | ATR | c.4445A>C (p.Lys1482Thr) n.4474A>C c.3235A>C c.4253A>C (p.Lys1418Thr) c.4451A>C (p.Lys1484Thr) c.4259A>C (p.Lys1420Thr) n.4540A>C n.4534A>C | |
3 | g.142515453T= | CA1407011983 | ATR | c.4445A= (p.Lys1482=) n.4474A= c.3235A= c.4253A= (p.Lys1418=) c.4451A= (p.Lys1484=) c.4259A= (p.Lys1420=) n.4540A= n.4534A= | |
3 | g.142515454T>A | CA354798213 | ATR | c.4444A>T (p.Lys1482Ter) n.4473A>T c.3234A>T c.4252A>T (p.Lys1418Ter) c.4450A>T (p.Lys1484Ter) c.4258A>T (p.Lys1420Ter) n.4539A>T n.4533A>T | |
3 | g.142515454T>C | CA354798215 | ATR | c.4444A>G (p.Lys1482Glu) n.4473A>G c.3234A>G c.4252A>G (p.Lys1418Glu) c.4450A>G (p.Lys1484Glu) c.4258A>G (p.Lys1420Glu) n.4539A>G n.4533A>G | |
3 | g.142515454T>G | CA354798220 | ATR | c.4444A>C (p.Lys1482Gln) n.4473A>C c.3234A>C c.4252A>C (p.Lys1418Gln) c.4450A>C (p.Lys1484Gln) c.4258A>C (p.Lys1420Gln) n.4539A>C n.4533A>C | |
3 | g.142515455A>C | CA354798225 | ATR | c.4443T>G (p.Ser1481Arg) n.4472T>G c.3233T>G c.4251T>G (p.Ser1417Arg) c.4449T>G (p.Ser1483Arg) c.4257T>G (p.Ser1419Arg) n.4538T>G n.4532T>G | |
3 | g.142515455A>G | CA436108128 | ATR | c.4443T>C (p.Ser1481=) n.4472T>C c.3233T>C c.4251T>C (p.Ser1417=) c.4449T>C (p.Ser1483=) c.4257T>C (p.Ser1419=) n.4538T>C n.4532T>C | |
3 | g.142515455A>T | CA354798234 | ATR | c.4443T>A (p.Ser1481Arg) n.4472T>A c.3233T>A c.4251T>A (p.Ser1417Arg) c.4449T>A (p.Ser1483Arg) c.4257T>A (p.Ser1419Arg) n.4538T>A n.4532T>A | |
3 | g.142515456C>A | CA354798243 | ATR | c.4442G>T (p.Ser1481Ile) n.4471G>T c.3232G>T c.4250G>T (p.Ser1417Ile) c.4448G>T (p.Ser1483Ile) c.4256G>T (p.Ser1419Ile) n.4537G>T n.4531G>T | |
3 | g.142515456C= | CA1407011984 | ATR | c.4442G= (p.Ser1481=) n.4471G= c.3232G= c.4250G= (p.Ser1417=) c.4448G= (p.Ser1483=) c.4256G= (p.Ser1419=) n.4537G= n.4531G= | |
3 | g.142515456C>G | CA354798256 | ATR | c.4442G>C (p.Ser1481Thr) n.4471G>C c.3232G>C c.4250G>C (p.Ser1417Thr) c.4448G>C (p.Ser1483Thr) c.4256G>C (p.Ser1419Thr) n.4537G>C n.4531G>C | |
3 | g.142515456C>T | CA354798240 | ATR | c.4442G>A (p.Ser1481Asn) n.4471G>A c.3232G>A c.4250G>A (p.Ser1417Asn) c.4448G>A (p.Ser1483Asn) c.4256G>A (p.Ser1419Asn) n.4537G>A n.4531G>A | ClinVar dbSNP gnomAD v4 |
3 | g.142515457T>A | CA354798263 | ATR | c.4441A>T (p.Ser1481Cys) n.4470A>T c.3231A>T c.4249A>T (p.Ser1417Cys) c.4447A>T (p.Ser1483Cys) c.4255A>T (p.Ser1419Cys) n.4536A>T n.4530A>T | ClinVar gnomAD v4 |
3 | g.142515457T>C | CA354798258 | ATR | c.4441A>G (p.Ser1481Gly) n.4470A>G c.3231A>G c.4249A>G (p.Ser1417Gly) c.4447A>G (p.Ser1483Gly) c.4255A>G (p.Ser1419Gly) n.4536A>G n.4530A>G | |
3 | g.142515457T>G | CA354798266 | ATR | c.4441A>C (p.Ser1481Arg) n.4470A>C c.3231A>C c.4249A>C (p.Ser1417Arg) c.4447A>C (p.Ser1483Arg) c.4255A>C (p.Ser1419Arg) n.4536A>C n.4530A>C | |
3 | g.142515458T>A | CA354798271 | ATR | c.4440A>T (p.Leu1480Phe) n.4469A>T c.3230A>T c.4248A>T (p.Leu1416Phe) c.4446A>T (p.Leu1482Phe) c.4254A>T (p.Leu1418Phe) n.4535A>T n.4529A>T | |
3 | g.142515458T>C | CA2649851 | ATR | c.4440A>G (p.Leu1480=) n.4469A>G c.3230A>G c.4248A>G (p.Leu1416=) c.4446A>G (p.Leu1482=) c.4254A>G (p.Leu1418=) n.4535A>G n.4529A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.142515458T>G | CA354798275 | ATR | c.4440A>C (p.Leu1480Phe) n.4469A>C c.3230A>C c.4248A>C (p.Leu1416Phe) c.4446A>C (p.Leu1482Phe) c.4254A>C (p.Leu1418Phe) n.4535A>C n.4529A>C | |
3 | g.142515458T= | CA1407011985 | ATR | c.4440A= (p.Leu1480=) n.4469A= c.3230A= c.4248A= (p.Leu1416=) c.4446A= (p.Leu1482=) c.4254A= (p.Leu1418=) n.4535A= n.4529A= | |
3 | g.142515458_142515463delinsTAAGTA | CA1407011986 | ATR | c.4435_4440delinsTACTTA (p.Tyr1479=) n.4464_4469delinsTACTTA c.3225_3230delinsTACTTA c.4243_4248delinsTACTTA (p.Tyr1415=) c.4441_4446delinsTACTTA (p.Tyr1481=) c.4249_4254delinsTACTTA (p.Tyr1417=) n.4530_4535delinsTACTTA n.4524_4529delinsTACTTA | |
3 | g.142515459A>C | CA354798278 | ATR | c.4439T>G (p.Leu1480Ter) n.4468T>G c.3229T>G c.4247T>G (p.Leu1416Ter) c.4445T>G (p.Leu1482Ter) c.4253T>G (p.Leu1418Ter) n.4534T>G n.4528T>G | |
3 | g.142515459A>G | CA354798279 | ATR | c.4439T>C (p.Leu1480Ser) n.4468T>C c.3229T>C c.4247T>C (p.Leu1416Ser) c.4445T>C (p.Leu1482Ser) c.4253T>C (p.Leu1418Ser) n.4534T>C n.4528T>C | |
3 | g.142515459A>T | CA354798280 | ATR | c.4439T>A (p.Leu1480Ter) n.4468T>A c.3229T>A c.4247T>A (p.Leu1416Ter) c.4445T>A (p.Leu1482Ter) c.4253T>A (p.Leu1418Ter) n.4534T>A n.4528T>A | |
3 | g.142515461_142515465del | CA546573555 | ATR | c.4435_4439del (p.Tyr1479LysfsTer2) n.4464_4468del c.3225_3229del c.4243_4247del (p.Tyr1415LysfsTer2) c.4441_4445del (p.Tyr1481LysfsTer2) c.4249_4253del (p.Tyr1417LysfsTer2) n.4530_4534del n.4524_4528del | dbSNP gnomAD v2 gnomAD v4 |
3 | g.142515460A>C | CA354798282 | ATR | c.4438T>G (p.Leu1480Val) n.4467T>G c.3228T>G c.4246T>G (p.Leu1416Val) c.4444T>G (p.Leu1482Val) c.4252T>G (p.Leu1418Val) n.4533T>G n.4527T>G | |
3 | g.142515460A>G | CA436108156 | ATR | c.4438T>C (p.Leu1480=) n.4467T>C c.3228T>C c.4246T>C (p.Leu1416=) c.4444T>C (p.Leu1482=) c.4252T>C (p.Leu1418=) n.4533T>C n.4527T>C | |
3 | g.142515460A>T | CA354798287 | ATR | c.4438T>A (p.Leu1480Ile) n.4467T>A c.3228T>A c.4246T>A (p.Leu1416Ile) c.4444T>A (p.Leu1482Ile) c.4252T>A (p.Leu1418Ile) n.4533T>A n.4527T>A | |
3 | g.142515461G>A | CA436108158 | ATR | c.4437C>T (p.Tyr1479=) n.4466C>T c.3227C>T c.4245C>T (p.Tyr1415=) c.4443C>T (p.Tyr1481=) c.4251C>T (p.Tyr1417=) n.4532C>T n.4526C>T | ClinVar |
3 | g.142515461G>C | CA354798307 | ATR | c.4437C>G (p.Tyr1479Ter) n.4466C>G c.3227C>G c.4245C>G (p.Tyr1415Ter) c.4443C>G (p.Tyr1481Ter) c.4251C>G (p.Tyr1417Ter) n.4532C>G n.4526C>G | |
3 | g.142515461G>T | CA354798308 | ATR | c.4437C>A (p.Tyr1479Ter) n.4466C>A c.3227C>A c.4245C>A (p.Tyr1415Ter) c.4443C>A (p.Tyr1481Ter) c.4251C>A (p.Tyr1417Ter) n.4532C>A n.4526C>A | |
3 | g.142515462T>A | CA354798309 | ATR | c.4436A>T (p.Tyr1479Phe) n.4465A>T c.3226A>T c.4244A>T (p.Tyr1415Phe) c.4442A>T (p.Tyr1481Phe) c.4250A>T (p.Tyr1417Phe) n.4531A>T n.4525A>T | |
3 | g.142515462T>C | CA354798310 | ATR | c.4436A>G (p.Tyr1479Cys) n.4465A>G c.3226A>G c.4244A>G (p.Tyr1415Cys) c.4442A>G (p.Tyr1481Cys) c.4250A>G (p.Tyr1417Cys) n.4531A>G n.4525A>G | gnomAD v4 |
3 | g.142515462T>G | CA354798313 | ATR | c.4436A>C (p.Tyr1479Ser) n.4465A>C c.3226A>C c.4244A>C (p.Tyr1415Ser) c.4442A>C (p.Tyr1481Ser) c.4250A>C (p.Tyr1417Ser) n.4531A>C n.4525A>C | |
3 | g.142515463A>C | CA354798317 | ATR | c.4435T>G (p.Tyr1479Asp) n.4464T>G c.3225T>G c.4243T>G (p.Tyr1415Asp) c.4441T>G (p.Tyr1481Asp) c.4249T>G (p.Tyr1417Asp) n.4530T>G n.4524T>G | |
3 | g.142515463A>G | CA354798322 | ATR | c.4435T>C (p.Tyr1479His) n.4464T>C c.3225T>C c.4243T>C (p.Tyr1415His) c.4441T>C (p.Tyr1481His) c.4249T>C (p.Tyr1417His) n.4530T>C n.4524T>C | gnomAD v4 |
3 | g.142515463A>T | CA354798326 | ATR | c.4435T>A (p.Tyr1479Asn) n.4464T>A c.3225T>A c.4243T>A (p.Tyr1415Asn) c.4441T>A (p.Tyr1481Asn) c.4249T>A (p.Tyr1417Asn) n.4530T>A n.4524T>A | |
3 | g.142515464A>C | CA354798328 | ATR | c.4434T>G (p.Ile1478Met) n.4463T>G c.3224T>G c.4242T>G (p.Ile1414Met) c.4440T>G (p.Ile1480Met) c.4248T>G (p.Ile1416Met) n.4529T>G n.4523T>G | |
3 | g.142515464A>G | CA436108175 | ATR | c.4434T>C (p.Ile1478=) n.4463T>C c.3224T>C c.4242T>C (p.Ile1414=) c.4440T>C (p.Ile1480=) c.4248T>C (p.Ile1416=) n.4529T>C n.4523T>C | |
3 | g.142515464A>T | CA436108177 | ATR | c.4434T>A (p.Ile1478=) n.4463T>A c.3224T>A c.4242T>A (p.Ile1414=) c.4440T>A (p.Ile1480=) c.4248T>A (p.Ile1416=) n.4529T>A n.4523T>A | |
3 | g.142515465A>C | CA354798338 | ATR | c.4433T>G (p.Ile1478Ser) n.4462T>G c.3223T>G c.4241T>G (p.Ile1414Ser) c.4439T>G (p.Ile1480Ser) c.4247T>G (p.Ile1416Ser) n.4528T>G n.4522T>G | |
3 | g.142515465A>G | CA354798342 | ATR | c.4433T>C (p.Ile1478Thr) n.4462T>C c.3223T>C c.4241T>C (p.Ile1414Thr) c.4439T>C (p.Ile1480Thr) c.4247T>C (p.Ile1416Thr) n.4528T>C n.4522T>C | |
3 | g.142515465A>T | CA354798349 | ATR | c.4433T>A (p.Ile1478Asn) n.4462T>A c.3223T>A c.4241T>A (p.Ile1414Asn) c.4439T>A (p.Ile1480Asn) c.4247T>A (p.Ile1416Asn) n.4528T>A n.4522T>A | |
3 | g.142515466T>A | CA354798361 | ATR | c.4432A>T (p.Ile1478Phe) n.4461A>T c.3222A>T c.4240A>T (p.Ile1414Phe) c.4438A>T (p.Ile1480Phe) c.4246A>T (p.Ile1416Phe) n.4527A>T n.4521A>T | |
3 | g.142515466T>C | CA354798363 | ATR | c.4432A>G (p.Ile1478Val) n.4461A>G c.3222A>G c.4240A>G (p.Ile1414Val) c.4438A>G (p.Ile1480Val) c.4246A>G (p.Ile1416Val) n.4527A>G n.4521A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.142515466T>G | CA354798368 | ATR | c.4432A>C (p.Ile1478Leu) n.4461A>C c.3222A>C c.4240A>C (p.Ile1414Leu) c.4438A>C (p.Ile1480Leu) c.4246A>C (p.Ile1416Leu) n.4527A>C n.4521A>C | |
3 | g.142515466T= | CA1407011987 | ATR | c.4432A= (p.Ile1478=) n.4461A= c.3222A= c.4240A= (p.Ile1414=) c.4438A= (p.Ile1480=) c.4246A= (p.Ile1416=) n.4527A= n.4521A= | |
3 | g.142515467T>A | CA436108192 | ATR | c.4431A>T (p.Pro1477=) n.4460A>T c.3221A>T c.4239A>T (p.Pro1413=) c.4437A>T (p.Pro1479=) c.4245A>T (p.Pro1415=) n.4526A>T n.4520A>T | ClinVar gnomAD v4 |
3 | g.142515467T>C | CA436108194 | ATR | c.4431A>G (p.Pro1477=) n.4460A>G c.3221A>G c.4239A>G (p.Pro1413=) c.4437A>G (p.Pro1479=) c.4245A>G (p.Pro1415=) n.4526A>G n.4520A>G | gnomAD v4 |
3 | g.142515467T>G | CA436108196 | ATR | c.4431A>C (p.Pro1477=) n.4460A>C c.3221A>C c.4239A>C (p.Pro1413=) c.4437A>C (p.Pro1479=) c.4245A>C (p.Pro1415=) n.4526A>C n.4520A>C | |
3 | g.142515468G>A | CA354798369 | ATR | c.4430C>T (p.Pro1477Leu) n.4459C>T c.3220C>T c.4238C>T (p.Pro1413Leu) c.4436C>T (p.Pro1479Leu) c.4244C>T (p.Pro1415Leu) n.4525C>T n.4519C>T | |
3 | g.142515468G>C | CA354798370 | ATR | c.4430C>G (p.Pro1477Arg) n.4459C>G c.3220C>G c.4238C>G (p.Pro1413Arg) c.4436C>G (p.Pro1479Arg) c.4244C>G (p.Pro1415Arg) n.4525C>G n.4519C>G | |
3 | g.142515468G>T | CA354798373 | ATR | c.4430C>A (p.Pro1477Gln) n.4459C>A c.3220C>A c.4238C>A (p.Pro1413Gln) c.4436C>A (p.Pro1479Gln) c.4244C>A (p.Pro1415Gln) n.4525C>A n.4519C>A | |
3 | g.142515469G>A | CA354798388 | ATR | c.4429C>T (p.Pro1477Ser) n.4458C>T c.3219C>T c.4237C>T (p.Pro1413Ser) c.4435C>T (p.Pro1479Ser) c.4243C>T (p.Pro1415Ser) n.4524C>T n.4518C>T | |
3 | g.142515469G>C | CA354798389 | ATR | c.4429C>G (p.Pro1477Ala) n.4458C>G c.3219C>G c.4237C>G (p.Pro1413Ala) c.4435C>G (p.Pro1479Ala) c.4243C>G (p.Pro1415Ala) n.4524C>G n.4518C>G | |
3 | g.142515469G>T | CA354798390 | ATR | c.4429C>A (p.Pro1477Thr) n.4458C>A c.3219C>A c.4237C>A (p.Pro1413Thr) c.4435C>A (p.Pro1479Thr) c.4243C>A (p.Pro1415Thr) n.4524C>A n.4518C>A | gnomAD v4 |
3 | g.142515470C>A | CA354798391 | ATR | c.4428G>T (p.Lys1476Asn) n.4457G>T c.3218G>T c.4236G>T (p.Lys1412Asn) c.4434G>T (p.Lys1478Asn) c.4242G>T (p.Lys1414Asn) n.4523G>T n.4517G>T | dbSNP |
3 | g.142515470C>G | CA354798396 | ATR | c.4428G>C (p.Lys1476Asn) n.4457G>C c.3218G>C c.4236G>C (p.Lys1412Asn) c.4434G>C (p.Lys1478Asn) c.4242G>C (p.Lys1414Asn) n.4523G>C n.4517G>C | ClinVar |
3 | g.142515470C>T | CA436108216 | ATR | c.4428G>A (p.Lys1476=) n.4457G>A c.3218G>A c.4236G>A (p.Lys1412=) c.4434G>A (p.Lys1478=) c.4242G>A (p.Lys1414=) n.4523G>A n.4517G>A | |
3 | g.142515471T>A | CA354798399 | ATR | c.4427A>T (p.Lys1476Met) n.4456A>T c.3217A>T c.4235A>T (p.Lys1412Met) c.4433A>T (p.Lys1478Met) c.4241A>T (p.Lys1414Met) n.4522A>T n.4516A>T | dbSNP gnomAD v3 gnomAD v4 |
3 | g.142515471T>C | CA354798401 | ATR | c.4427A>G (p.Lys1476Arg) n.4456A>G c.3217A>G c.4235A>G (p.Lys1412Arg) c.4433A>G (p.Lys1478Arg) c.4241A>G (p.Lys1414Arg) n.4522A>G n.4516A>G | |
3 | g.142515471T>G | CA354798414 | ATR | c.4427A>C (p.Lys1476Thr) n.4456A>C c.3217A>C c.4235A>C (p.Lys1412Thr) c.4433A>C (p.Lys1478Thr) c.4241A>C (p.Lys1414Thr) n.4522A>C n.4516A>C | |
3 | g.142515471T= | CA1407011988 | ATR | c.4427A= (p.Lys1476=) n.4456A= c.3217A= c.4235A= (p.Lys1412=) c.4433A= (p.Lys1478=) c.4241A= (p.Lys1414=) n.4522A= n.4516A= | |
3 | g.142515472T>A | CA354798419 | ATR | c.4426A>T (p.Lys1476Ter) n.4455A>T c.3216A>T c.4234A>T (p.Lys1412Ter) c.4432A>T (p.Lys1478Ter) c.4240A>T (p.Lys1414Ter) n.4521A>T n.4515A>T | |
3 | g.142515472T>C | CA354798431 | ATR | c.4426A>G (p.Lys1476Glu) n.4455A>G c.3216A>G c.4234A>G (p.Lys1412Glu) c.4432A>G (p.Lys1478Glu) c.4240A>G (p.Lys1414Glu) n.4521A>G n.4515A>G | |
3 | g.142515472T>G | CA354798435 | ATR | c.4426A>C (p.Lys1476Gln) n.4455A>C c.3216A>C c.4234A>C (p.Lys1412Gln) c.4432A>C (p.Lys1478Gln) c.4240A>C (p.Lys1414Gln) n.4521A>C n.4515A>C | ClinVar |
3 | g.142515473C>A | CA354798452 | ATR | c.4425G>T (p.Lys1475Asn) n.4454G>T c.3215G>T c.4233G>T (p.Lys1411Asn) c.4431G>T (p.Lys1477Asn) c.4239G>T (p.Lys1413Asn) n.4520G>T n.4514G>T | gnomAD v4 |
3 | g.142515473C>G | CA354798448 | ATR | c.4425G>C (p.Lys1475Asn) n.4454G>C c.3215G>C c.4233G>C (p.Lys1411Asn) c.4431G>C (p.Lys1477Asn) c.4239G>C (p.Lys1413Asn) n.4520G>C n.4514G>C | |
3 | g.142515473C>T | CA436108235 | ATR | c.4425G>A (p.Lys1475=) n.4454G>A c.3215G>A c.4233G>A (p.Lys1411=) c.4431G>A (p.Lys1477=) c.4239G>A (p.Lys1413=) n.4520G>A n.4514G>A | |
3 | g.142515474T>A | CA354798474 | ATR | c.4424A>T (p.Lys1475Met) n.4453A>T c.3214A>T c.4232A>T (p.Lys1411Met) c.4430A>T (p.Lys1477Met) c.4238A>T (p.Lys1413Met) n.4519A>T n.4513A>T | |
3 | g.142515474T>C | CA354798488 | ATR | c.4424A>G (p.Lys1475Arg) n.4453A>G c.3214A>G c.4232A>G (p.Lys1411Arg) c.4430A>G (p.Lys1477Arg) c.4238A>G (p.Lys1413Arg) n.4519A>G n.4513A>G | gnomAD v4 |
3 | g.142515474T>G | CA354798497 | ATR | c.4424A>C (p.Lys1475Thr) n.4453A>C c.3214A>C c.4232A>C (p.Lys1411Thr) c.4430A>C (p.Lys1477Thr) c.4238A>C (p.Lys1413Thr) n.4519A>C n.4513A>C | |
3 | g.142515475T>A | CA354798500 | ATR | c.4423A>T (p.Lys1475Ter) n.4452A>T c.3213A>T c.4231A>T (p.Lys1411Ter) c.4429A>T (p.Lys1477Ter) c.4237A>T (p.Lys1413Ter) n.4518A>T n.4512A>T | |
3 | g.142515475T>C | CA354798502 | ATR | c.4423A>G (p.Lys1475Glu) n.4452A>G c.3213A>G c.4231A>G (p.Lys1411Glu) c.4429A>G (p.Lys1477Glu) c.4237A>G (p.Lys1413Glu) n.4518A>G n.4512A>G | |
3 | g.142515475T>G | CA354798503 | ATR | c.4423A>C (p.Lys1475Gln) n.4452A>C c.3213A>C c.4231A>C (p.Lys1411Gln) c.4429A>C (p.Lys1477Gln) c.4237A>C (p.Lys1413Gln) n.4518A>C n.4512A>C | |
3 | g.142515476T>A | CA436108253 | ATR | c.4422A>T (p.Val1474=) n.4451A>T c.3212A>T c.4230A>T (p.Val1410=) c.4428A>T (p.Val1476=) c.4236A>T (p.Val1412=) n.4517A>T n.4511A>T | |
3 | g.142515476T>C | CA436108255 | ATR | c.4422A>G (p.Val1474=) n.4451A>G c.3212A>G c.4230A>G (p.Val1410=) c.4428A>G (p.Val1476=) c.4236A>G (p.Val1412=) n.4517A>G n.4511A>G | |
3 | g.142515476T>G | CA436108251 | ATR | c.4422A>C (p.Val1474=) n.4451A>C c.3212A>C c.4230A>C (p.Val1410=) c.4428A>C (p.Val1476=) c.4236A>C (p.Val1412=) n.4517A>C n.4511A>C | |
3 | g.142515477A>C | CA354798504 | ATR | c.4421T>G (p.Val1474Gly) n.4450T>G c.3211T>G c.4229T>G (p.Val1410Gly) c.4427T>G (p.Val1476Gly) c.4235T>G (p.Val1412Gly) n.4516T>G n.4510T>G | |
3 | g.142515477A>G | CA354798515 | ATR | c.4421T>C (p.Val1474Ala) n.4450T>C c.3211T>C c.4229T>C (p.Val1410Ala) c.4427T>C (p.Val1476Ala) c.4235T>C (p.Val1412Ala) n.4516T>C n.4510T>C | |
3 | g.142515477A>T | CA354798510 | ATR | c.4421T>A (p.Val1474Glu) n.4450T>A c.3211T>A c.4229T>A (p.Val1410Glu) c.4427T>A (p.Val1476Glu) c.4235T>A (p.Val1412Glu) n.4516T>A n.4510T>A | |
3 | g.142515477_142515480delinsACTC | CA1407011989 | ATR | c.4418_4421delinsGAGT (p.Gly1473=) n.4447_4450delinsGAGT c.3208_3211delinsGAGT c.4226_4229delinsGAGT (p.Gly1409=) c.4424_4427delinsGAGT (p.Gly1475=) c.4232_4235delinsGAGT (p.Gly1411=) n.4513_4516delinsGAGT n.4507_4510delinsGAGT | |
3 | g.142515478C>A | CA354798517 | ATR | c.4420G>T (p.Val1474Leu) n.4449G>T c.3210G>T c.4228G>T (p.Val1410Leu) c.4426G>T (p.Val1476Leu) c.4234G>T (p.Val1412Leu) n.4515G>T n.4509G>T | |
3 | g.142515478C>G | CA354798540 | ATR | c.4420G>C (p.Val1474Leu) n.4449G>C c.3210G>C c.4228G>C (p.Val1410Leu) c.4426G>C (p.Val1476Leu) c.4234G>C (p.Val1412Leu) n.4515G>C n.4509G>C | |
3 | g.142515478C>T | CA354798544 | ATR | c.4420G>A (p.Val1474Ile) n.4449G>A c.3210G>A c.4228G>A (p.Val1410Ile) c.4426G>A (p.Val1476Ile) c.4234G>A (p.Val1412Ile) n.4515G>A n.4509G>A | dbSNP |
3 | g.142515479_142515481del | CA2649852 | ATR | c.4418_4420del (p.Gly1473del) n.4447_4449del c.3208_3210del c.4226_4228del (p.Gly1409del) c.4424_4426del (p.Gly1475del) c.4232_4234del (p.Gly1411del) n.4513_4515del n.4507_4509del | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.142515479T>A | CA436108277 | ATR | c.4419A>T (p.Gly1473=) n.4448A>T c.3209A>T c.4227A>T (p.Gly1409=) c.4425A>T (p.Gly1475=) c.4233A>T (p.Gly1411=) n.4514A>T n.4508A>T | |
3 | g.142515479T>C | CA2649853 | ATR | c.4419A>G (p.Gly1473=) n.4448A>G c.3209A>G c.4227A>G (p.Gly1409=) c.4425A>G (p.Gly1475=) c.4233A>G (p.Gly1411=) n.4514A>G n.4508A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.142515479T>G | CA436108282 | ATR | c.4419A>C (p.Gly1473=) n.4448A>C c.3209A>C c.4227A>C (p.Gly1409=) c.4425A>C (p.Gly1475=) c.4233A>C (p.Gly1411=) n.4514A>C n.4508A>C | |
3 | g.142515479T= | CA1407011990 | ATR | c.4419A= (p.Gly1473=) n.4448A= c.3209A= c.4227A= (p.Gly1409=) c.4425A= (p.Gly1475=) c.4233A= (p.Gly1411=) n.4514A= n.4508A= | |
3 | g.142515480C>A | CA354798562 | ATR | c.4418G>T (p.Gly1473Val) n.4447G>T c.3208G>T c.4226G>T (p.Gly1409Val) c.4424G>T (p.Gly1475Val) c.4232G>T (p.Gly1411Val) n.4513G>T n.4507G>T | |
3 | g.142515480C= | CA1407011991 | ATR | c.4418G= (p.Gly1473=) n.4447G= c.3208G= c.4226G= (p.Gly1409=) c.4424G= (p.Gly1475=) c.4232G= (p.Gly1411=) n.4513G= n.4507G= | |
3 | g.142515480C>G | CA354798564 | ATR | c.4418G>C (p.Gly1473Ala) n.4447G>C c.3208G>C c.4226G>C (p.Gly1409Ala) c.4424G>C (p.Gly1475Ala) c.4232G>C (p.Gly1411Ala) n.4513G>C n.4507G>C | dbSNP |
3 | g.142515480C>T | CA354798567 | ATR | c.4418G>A (p.Gly1473Glu) n.4447G>A c.3208G>A c.4226G>A (p.Gly1409Glu) c.4424G>A (p.Gly1475Glu) c.4232G>A (p.Gly1411Glu) n.4513G>A n.4507G>A | |
3 | g.142515481C>A | CA354798569 | ATR | c.4417G>T (p.Gly1473Ter) n.4446G>T c.3207G>T c.4225G>T (p.Gly1409Ter) c.4423G>T (p.Gly1475Ter) c.4231G>T (p.Gly1411Ter) n.4512G>T n.4506G>T | |
3 | g.142515481C>G | CA354798571 | ATR | c.4417G>C (p.Gly1473Arg) n.4446G>C c.3207G>C c.4225G>C (p.Gly1409Arg) c.4423G>C (p.Gly1475Arg) c.4231G>C (p.Gly1411Arg) n.4512G>C n.4506G>C | |
3 | g.142515481C>T | CA354798576 | ATR | c.4417G>A (p.Gly1473Arg) n.4446G>A c.3207G>A c.4225G>A (p.Gly1409Arg) c.4423G>A (p.Gly1475Arg) c.4231G>A (p.Gly1411Arg) n.4512G>A n.4506G>A | |
3 | g.142515482A>C | CA436108298 | ATR | c.4416T>G (p.Ser1472=) n.4445T>G c.3206T>G c.4224T>G (p.Ser1408=) c.4422T>G (p.Ser1474=) c.4230T>G (p.Ser1410=) n.4511T>G n.4505T>G | |
3 | g.142515482A>G | CA436108302 | ATR | c.4416T>C (p.Ser1472=) n.4445T>C c.3206T>C c.4224T>C (p.Ser1408=) c.4422T>C (p.Ser1474=) c.4230T>C (p.Ser1410=) n.4511T>C n.4505T>C | ClinVar gnomAD v4 |
3 | g.142515482A>T | CA436108300 | ATR | c.4416T>A (p.Ser1472=) n.4445T>A c.3206T>A c.4224T>A (p.Ser1408=) c.4422T>A (p.Ser1474=) c.4230T>A (p.Ser1410=) n.4511T>A n.4505T>A | |
3 | g.142515483G>A | CA354798589 | ATR | c.4415C>T (p.Ser1472Phe) n.4444C>T c.3205C>T c.4223C>T (p.Ser1408Phe) c.4421C>T (p.Ser1474Phe) c.4229C>T (p.Ser1410Phe) n.4510C>T n.4504C>T | ClinVar dbSNP gnomAD v4 |
3 | g.142515483G>C | CA354798586 | ATR | c.4415C>G (p.Ser1472Cys) n.4444C>G c.3205C>G c.4223C>G (p.Ser1408Cys) c.4421C>G (p.Ser1474Cys) c.4229C>G (p.Ser1410Cys) n.4510C>G n.4504C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.142515483G= | CA1407011992 | ATR | c.4415C= (p.Ser1472=) n.4444C= c.3205C= c.4223C= (p.Ser1408=) c.4421C= (p.Ser1474=) c.4229C= (p.Ser1410=) n.4510C= n.4504C= | |
3 | g.142515483G>T | CA354798583 | ATR | c.4415C>A (p.Ser1472Tyr) n.4444C>A c.3205C>A c.4223C>A (p.Ser1408Tyr) c.4421C>A (p.Ser1474Tyr) c.4229C>A (p.Ser1410Tyr) n.4510C>A n.4504C>A | gnomAD v4 |
3 | g.142515484A>C | CA354798607 | ATR | c.4414T>G (p.Ser1472Ala) n.4443T>G c.3204T>G c.4222T>G (p.Ser1408Ala) c.4420T>G (p.Ser1474Ala) c.4228T>G (p.Ser1410Ala) n.4509T>G n.4503T>G | |
3 | g.142515484A>G | CA354798595 | ATR | c.4414T>C (p.Ser1472Pro) n.4443T>C c.3204T>C c.4222T>C (p.Ser1408Pro) c.4420T>C (p.Ser1474Pro) c.4228T>C (p.Ser1410Pro) n.4509T>C n.4503T>C | |
3 | g.142515484A>T | CA354798600 | ATR | c.4414T>A (p.Ser1472Thr) n.4443T>A c.3204T>A c.4222T>A (p.Ser1408Thr) c.4420T>A (p.Ser1474Thr) c.4228T>A (p.Ser1410Thr) n.4509T>A n.4503T>A | |
3 | g.142515485C>A | CA354798613 | ATR | c.4413G>T (p.Trp1471Cys) n.4442G>T c.3203G>T c.4221G>T (p.Trp1407Cys) c.4419G>T (p.Trp1473Cys) c.4227G>T (p.Trp1409Cys) n.4508G>T n.4502G>T | ClinVar |
3 | g.142515485C= | CA1407011993 | ATR | c.4413G= (p.Trp1471=) n.4442G= c.3203G= c.4221G= (p.Trp1407=) c.4419G= (p.Trp1473=) c.4227G= (p.Trp1409=) n.4508G= n.4502G= | |
3 | g.142515485C>G | CA354798632 | ATR | c.4413G>C (p.Trp1471Cys) n.4442G>C c.3203G>C c.4221G>C (p.Trp1407Cys) c.4419G>C (p.Trp1473Cys) c.4227G>C (p.Trp1409Cys) n.4508G>C n.4502G>C | dbSNP gnomAD v2 gnomAD v4 |
3 | g.142515485C>T | CA354798635 | ATR | c.4413G>A (p.Trp1471Ter) n.4442G>A c.3203G>A c.4221G>A (p.Trp1407Ter) c.4419G>A (p.Trp1473Ter) c.4227G>A (p.Trp1409Ter) n.4508G>A n.4502G>A | |
3 | g.142515486C>A | CA354798636 | ATR | c.4412G>T (p.Trp1471Leu) n.4441G>T c.3202G>T c.4220G>T (p.Trp1407Leu) c.4418G>T (p.Trp1473Leu) c.4226G>T (p.Trp1409Leu) n.4507G>T n.4501G>T | |
3 | g.142515486C>G | CA354798637 | ATR | c.4412G>C (p.Trp1471Ser) n.4441G>C c.3202G>C c.4220G>C (p.Trp1407Ser) c.4418G>C (p.Trp1473Ser) c.4226G>C (p.Trp1409Ser) n.4507G>C n.4501G>C | |
3 | g.142515486C>T | CA354798638 | ATR | c.4412G>A (p.Trp1471Ter) n.4441G>A c.3202G>A c.4220G>A (p.Trp1407Ter) c.4418G>A (p.Trp1473Ter) c.4226G>A (p.Trp1409Ter) n.4507G>A n.4501G>A | |
3 | g.142515487A= | CA1407011994 | ATR | c.4411T= (p.Trp1471=) n.4440T= c.3201T= c.4219T= (p.Trp1407=) c.4417T= (p.Trp1473=) c.4225T= (p.Trp1409=) n.4506T= n.4500T= | |
3 | g.142515487A>C | CA84720702 | ATR | c.4411T>G (p.Trp1471Gly) n.4440T>G c.3201T>G c.4219T>G (p.Trp1407Gly) c.4417T>G (p.Trp1473Gly) c.4225T>G (p.Trp1409Gly) n.4506T>G n.4500T>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.142515487A>G | CA354798644 | ATR | c.4411T>C (p.Trp1471Arg) n.4440T>C c.3201T>C c.4219T>C (p.Trp1407Arg) c.4417T>C (p.Trp1473Arg) c.4225T>C (p.Trp1409Arg) n.4506T>C n.4500T>C | COSMIC |
3 | g.142515487A>T | CA354798658 | ATR | c.4411T>A (p.Trp1471Arg) n.4440T>A c.3201T>A c.4219T>A (p.Trp1407Arg) c.4417T>A (p.Trp1473Arg) c.4225T>A (p.Trp1409Arg) n.4506T>A n.4500T>A | |
3 | g.142515488A>C | CA354798674 | ATR | c.4410T>G (p.Asp1470Glu) n.4439T>G c.3200T>G c.4218T>G (p.Asp1406Glu) c.4416T>G (p.Asp1472Glu) c.4224T>G (p.Asp1408Glu) n.4505T>G n.4499T>G | |
3 | g.142515488A>G | CA436108359 | ATR | c.4410T>C (p.Asp1470=) n.4439T>C c.3200T>C c.4218T>C (p.Asp1406=) c.4416T>C (p.Asp1472=) c.4224T>C (p.Asp1408=) n.4505T>C n.4499T>C | ClinVar gnomAD v4 |
3 | g.142515488A>T | CA354798681 | ATR | c.4410T>A (p.Asp1470Glu) n.4439T>A c.3200T>A c.4218T>A (p.Asp1406Glu) c.4416T>A (p.Asp1472Glu) c.4224T>A (p.Asp1408Glu) n.4505T>A n.4499T>A | |
3 | g.142515489T>A | CA354798686 | ATR | c.4409A>T (p.Asp1470Val) n.4438A>T c.3199A>T c.4217A>T (p.Asp1406Val) c.4415A>T (p.Asp1472Val) c.4223A>T (p.Asp1408Val) n.4504A>T n.4498A>T | |
3 | g.142515489T>C | CA354798685 | ATR | c.4409A>G (p.Asp1470Gly) n.4438A>G c.3199A>G c.4217A>G (p.Asp1406Gly) c.4415A>G (p.Asp1472Gly) c.4223A>G (p.Asp1408Gly) n.4504A>G n.4498A>G | |
3 | g.142515489T>G | CA354798684 | ATR | c.4409A>C (p.Asp1470Ala) n.4438A>C c.3199A>C c.4217A>C (p.Asp1406Ala) c.4415A>C (p.Asp1472Ala) c.4223A>C (p.Asp1408Ala) n.4504A>C n.4498A>C | |
3 | g.142515490C>A | CA354798687 | ATR | c.4408G>T (p.Asp1470Tyr) n.4437G>T c.3198G>T c.4216G>T (p.Asp1406Tyr) c.4414G>T (p.Asp1472Tyr) c.4222G>T (p.Asp1408Tyr) n.4503G>T n.4497G>T | dbSNP gnomAD v4 |
3 | g.142515490C= | CA1407011995 | ATR | c.4408G= (p.Asp1470=) n.4437G= c.3198G= c.4216G= (p.Asp1406=) c.4414G= (p.Asp1472=) c.4222G= (p.Asp1408=) n.4503G= n.4497G= | |
3 | g.142515490C>G | CA354798689 | ATR | c.4408G>C (p.Asp1470His) n.4437G>C c.3198G>C c.4216G>C (p.Asp1406His) c.4414G>C (p.Asp1472His) c.4222G>C (p.Asp1408His) n.4503G>C n.4497G>C | |
3 | g.142515490C>T | CA354798694 | ATR | c.4408G>A (p.Asp1470Asn) n.4437G>A c.3198G>A c.4216G>A (p.Asp1406Asn) c.4414G>A (p.Asp1472Asn) c.4222G>A (p.Asp1408Asn) n.4503G>A n.4497G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.142515491G>A | CA2649854 | ATR | c.4407C>T (p.Thr1469=) n.4436C>T c.3197C>T c.4215C>T (p.Thr1405=) c.4413C>T (p.Thr1471=) c.4221C>T (p.Thr1407=) n.4502C>T n.4496C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.142515491G>C | CA2649855 | ATR | c.4407C>G (p.Thr1469=) n.4436C>G c.3197C>G c.4215C>G (p.Thr1405=) c.4413C>G (p.Thr1471=) c.4221C>G (p.Thr1407=) n.4502C>G n.4496C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.142515491G= | CA1407011996 | ATR | c.4407C= (p.Thr1469=) n.4436C= c.3197C= c.4215C= (p.Thr1405=) c.4413C= (p.Thr1471=) c.4221C= (p.Thr1407=) n.4502C= n.4496C= | |
3 | g.142515491G>T | CA436108392 | ATR | c.4407C>A (p.Thr1469=) n.4436C>A c.3197C>A c.4215C>A (p.Thr1405=) c.4413C>A (p.Thr1471=) c.4221C>A (p.Thr1407=) n.4502C>A n.4496C>A | ClinVar |
3 | g.142515492G>A | CA2649856 | ATR | c.4406C>T (p.Thr1469Ile) n.4435C>T c.3196C>T c.4214C>T (p.Thr1405Ile) c.4412C>T (p.Thr1471Ile) c.4220C>T (p.Thr1407Ile) n.4501C>T n.4495C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.142515492G>C | CA354798698 | ATR | c.4406C>G (p.Thr1469Ser) n.4435C>G c.3196C>G c.4214C>G (p.Thr1405Ser) c.4412C>G (p.Thr1471Ser) c.4220C>G (p.Thr1407Ser) n.4501C>G n.4495C>G | |
3 | g.142515492G= | CA1407011997 | ATR | c.4406C= (p.Thr1469=) n.4435C= c.3196C= c.4214C= (p.Thr1405=) c.4412C= (p.Thr1471=) c.4220C= (p.Thr1407=) n.4501C= n.4495C= | |
3 | g.142515492G>T | CA354798700 | ATR | c.4406C>A (p.Thr1469Asn) n.4435C>A c.3196C>A c.4214C>A (p.Thr1405Asn) c.4412C>A (p.Thr1471Asn) c.4220C>A (p.Thr1407Asn) n.4501C>A n.4495C>A | |
3 | g.142515493T>A | CA354798706 | ATR | c.4405A>T (p.Thr1469Ser) n.4434A>T c.3195A>T c.4213A>T (p.Thr1405Ser) c.4411A>T (p.Thr1471Ser) c.4219A>T (p.Thr1407Ser) n.4500A>T n.4494A>T | dbSNP |
3 | g.142515493T>C | CA2649857 | ATR | c.4405A>G (p.Thr1469Ala) n.4434A>G c.3195A>G c.4213A>G (p.Thr1405Ala) c.4411A>G (p.Thr1471Ala) c.4219A>G (p.Thr1407Ala) n.4500A>G n.4494A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.142515493T>G | CA354798716 | ATR | c.4405A>C (p.Thr1469Pro) n.4434A>C c.3195A>C c.4213A>C (p.Thr1405Pro) c.4411A>C (p.Thr1471Pro) c.4219A>C (p.Thr1407Pro) n.4500A>C n.4494A>C | dbSNP |
3 | g.142515493T= | CA1407011998 | ATR | c.4405A= (p.Thr1469=) n.4434A= c.3195A= c.4213A= (p.Thr1405=) c.4411A= (p.Thr1471=) c.4219A= (p.Thr1407=) n.4500A= n.4494A= | |
3 | g.142515494T>A | CA436108412 | ATR | c.4404A>T (p.Ser1468=) n.4433A>T c.3194A>T c.4212A>T (p.Ser1404=) c.4410A>T (p.Ser1470=) c.4218A>T (p.Ser1406=) n.4499A>T n.4493A>T | |
3 | g.142515494T>C | CA436108416 | ATR | c.4404A>G (p.Ser1468=) n.4433A>G c.3194A>G c.4212A>G (p.Ser1404=) c.4410A>G (p.Ser1470=) c.4218A>G (p.Ser1406=) n.4499A>G n.4493A>G | |
3 | g.142515494T>G | CA436108419 | ATR | c.4404A>C (p.Ser1468=) n.4433A>C c.3194A>C c.4212A>C (p.Ser1404=) c.4410A>C (p.Ser1470=) c.4218A>C (p.Ser1406=) n.4499A>C n.4493A>C | |
3 | g.142515495G>A | CA354798718 | ATR | c.4403C>T (p.Ser1468Leu) n.4432C>T c.3193C>T c.4211C>T (p.Ser1404Leu) c.4409C>T (p.Ser1470Leu) c.4217C>T (p.Ser1406Leu) n.4498C>T n.4492C>T | |
3 | g.142515495G>C | CA354798720 | ATR | c.4403C>G (p.Ser1468Ter) n.4432C>G c.3193C>G c.4211C>G (p.Ser1404Ter) c.4409C>G (p.Ser1470Ter) c.4217C>G (p.Ser1406Ter) n.4498C>G n.4492C>G | |
3 | g.142515495G>T | CA354798723 | ATR | c.4403C>A (p.Ser1468Ter) n.4432C>A c.3193C>A c.4211C>A (p.Ser1404Ter) c.4409C>A (p.Ser1470Ter) c.4217C>A (p.Ser1406Ter) n.4498C>A n.4492C>A | |
3 | g.142515496A>C | CA354798737 | ATR | c.4402T>G (p.Ser1468Ala) n.4431T>G c.3192T>G c.4210T>G (p.Ser1404Ala) c.4408T>G (p.Ser1470Ala) c.4216T>G (p.Ser1406Ala) n.4497T>G n.4491T>G | |
3 | g.142515496A>G | CA354798740 | ATR | c.4402T>C (p.Ser1468Pro) n.4431T>C c.3192T>C c.4210T>C (p.Ser1404Pro) c.4408T>C (p.Ser1470Pro) c.4216T>C (p.Ser1406Pro) n.4497T>C n.4491T>C | |
3 | g.142515496A>T | CA354798731 | ATR | c.4402T>A (p.Ser1468Thr) n.4431T>A c.3192T>A c.4210T>A (p.Ser1404Thr) c.4408T>A (p.Ser1470Thr) c.4216T>A (p.Ser1406Thr) n.4497T>A n.4491T>A | |
3 | g.142515497C>A | CA354798741 | ATR | c.4401G>T (p.Lys1467Asn) n.4430G>T c.3191G>T c.4209G>T (p.Lys1403Asn) c.4407G>T (p.Lys1469Asn) c.4215G>T (p.Lys1405Asn) n.4496G>T n.4490G>T | |
3 | g.142515497C>G | CA354798742 | ATR | c.4401G>C (p.Lys1467Asn) n.4430G>C c.3191G>C c.4209G>C (p.Lys1403Asn) c.4407G>C (p.Lys1469Asn) c.4215G>C (p.Lys1405Asn) n.4496G>C n.4490G>C | gnomAD v4 |
3 | g.142515497C>T | CA436108443 | ATR | c.4401G>A (p.Lys1467=) n.4430G>A c.3191G>A c.4209G>A (p.Lys1403=) c.4407G>A (p.Lys1469=) c.4215G>A (p.Lys1405=) n.4496G>A n.4490G>A | |
3 | g.142515498T>A | CA354798744 | ATR | c.4400A>T (p.Lys1467Met) n.4429A>T c.3190A>T c.4208A>T (p.Lys1403Met) c.4406A>T (p.Lys1469Met) c.4214A>T (p.Lys1405Met) n.4495A>T n.4489A>T | |
3 | g.142515498T>C | CA354798749 | ATR | c.4400A>G (p.Lys1467Arg) n.4429A>G c.3190A>G c.4208A>G (p.Lys1403Arg) c.4406A>G (p.Lys1469Arg) c.4214A>G (p.Lys1405Arg) n.4495A>G n.4489A>G | |
3 | g.142515498T>G | CA354798753 | ATR | c.4400A>C (p.Lys1467Thr) n.4429A>C c.3190A>C c.4208A>C (p.Lys1403Thr) c.4406A>C (p.Lys1469Thr) c.4214A>C (p.Lys1405Thr) n.4495A>C n.4489A>C | |
3 | g.142515499T>A | CA354798786 | ATR | c.4399A>T (p.Lys1467Ter) n.4428A>T c.3189A>T c.4207A>T (p.Lys1403Ter) c.4405A>T (p.Lys1469Ter) c.4213A>T (p.Lys1405Ter) n.4494A>T n.4488A>T | |
3 | g.142515499T>C | CA354798780 | ATR | c.4399A>G (p.Lys1467Glu) n.4428A>G c.3189A>G c.4207A>G (p.Lys1403Glu) c.4405A>G (p.Lys1469Glu) c.4213A>G (p.Lys1405Glu) n.4494A>G n.4488A>G | |
3 | g.142515499T>G | CA354798755 | ATR | c.4399A>C (p.Lys1467Gln) n.4428A>C c.3189A>C c.4207A>C (p.Lys1403Gln) c.4405A>C (p.Lys1469Gln) c.4213A>C (p.Lys1405Gln) n.4494A>C n.4488A>C | |
3 | g.142515500C>A | CA354798796 | ATR | c.4398G>T (p.Gln1466His) n.4427G>T c.3188G>T c.4206G>T (p.Gln1402His) c.4404G>T (p.Gln1468His) c.4212G>T (p.Gln1404His) n.4493G>T n.4487G>T | |
3 | g.142515500C= | CA1407011999 | ATR | c.4398G= (p.Gln1466=) n.4427G= c.3188G= c.4206G= (p.Gln1402=) c.4404G= (p.Gln1468=) c.4212G= (p.Gln1404=) n.4493G= n.4487G= | |
3 | g.142515500C>G | CA354798802 | ATR | c.4398G>C (p.Gln1466His) n.4427G>C c.3188G>C c.4206G>C (p.Gln1402His) c.4404G>C (p.Gln1468His) c.4212G>C (p.Gln1404His) n.4493G>C n.4487G>C | dbSNP |
3 | g.142515500C>T | CA2649858 | ATR | c.4398G>A (p.Gln1466=) n.4427G>A c.3188G>A c.4206G>A (p.Gln1402=) c.4404G>A (p.Gln1468=) c.4212G>A (p.Gln1404=) n.4493G>A n.4487G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.142515501T>A | CA354798807 | ATR | c.4397A>T (p.Gln1466Leu) n.4426A>T c.3187A>T c.4205A>T (p.Gln1402Leu) c.4403A>T (p.Gln1468Leu) c.4211A>T (p.Gln1404Leu) n.4492A>T n.4486A>T | |
3 | g.142515501T>C | CA354798808 | ATR | c.4397A>G (p.Gln1466Arg) n.4426A>G c.3187A>G c.4205A>G (p.Gln1402Arg) c.4403A>G (p.Gln1468Arg) c.4211A>G (p.Gln1404Arg) n.4492A>G n.4486A>G | |
3 | g.142515501T>G | CA354798809 | ATR | c.4397A>C (p.Gln1466Pro) n.4426A>C c.3187A>C c.4205A>C (p.Gln1402Pro) c.4403A>C (p.Gln1468Pro) c.4211A>C (p.Gln1404Pro) n.4492A>C n.4486A>C | |
3 | g.142515502G>A | CA354798810 | ATR | c.4396C>T (p.Gln1466Ter) n.4425C>T c.3186C>T c.4204C>T (p.Gln1402Ter) c.4402C>T (p.Gln1468Ter) c.4210C>T (p.Gln1404Ter) n.4491C>T n.4485C>T | dbSNP gnomAD v2 |
3 | g.142515502G>C | CA354798812 | ATR | c.4396C>G (p.Gln1466Glu) n.4425C>G c.3186C>G c.4204C>G (p.Gln1402Glu) c.4402C>G (p.Gln1468Glu) c.4210C>G (p.Gln1404Glu) n.4491C>G n.4485C>G | |
3 | g.142515502G= | CA1407012000 | ATR | c.4396C= (p.Gln1466=) n.4425C= c.3186C= c.4204C= (p.Gln1402=) c.4402C= (p.Gln1468=) c.4210C= (p.Gln1404=) n.4491C= n.4485C= | |
3 | g.142515502G>T | CA354798811 | ATR | c.4396C>A (p.Gln1466Lys) n.4425C>A c.3186C>A c.4204C>A (p.Gln1402Lys) c.4402C>A (p.Gln1468Lys) c.4210C>A (p.Gln1404Lys) n.4491C>A n.4485C>A | |
3 | g.142515503A>C | CA436108494 | ATR | c.4395T>G (p.Ser1465=) n.4424T>G c.3185T>G c.4203T>G (p.Ser1401=) c.4401T>G (p.Ser1467=) c.4209T>G (p.Ser1403=) n.4490T>G n.4484T>G | |
3 | g.142515503A>G | CA436108499 | ATR | c.4395T>C (p.Ser1465=) n.4424T>C c.3185T>C c.4203T>C (p.Ser1401=) c.4401T>C (p.Ser1467=) c.4209T>C (p.Ser1403=) n.4490T>C n.4484T>C | |
3 | g.142515503A>T | CA436108504 | ATR | c.4395T>A (p.Ser1465=) n.4424T>A c.3185T>A c.4203T>A (p.Ser1401=) c.4401T>A (p.Ser1467=) c.4209T>A (p.Ser1403=) n.4490T>A n.4484T>A | |
3 | g.142515504G>A | CA2649859 | ATR | c.4394C>T (p.Ser1465Phe) n.4423C>T c.3184C>T c.4202C>T (p.Ser1401Phe) c.4400C>T (p.Ser1467Phe) c.4208C>T (p.Ser1403Phe) n.4489C>T n.4483C>T | dbSNP ExAC gnomAD v3 gnomAD v4 |
3 | g.142515504G>C | CA354798814 | ATR | c.4394C>G (p.Ser1465Cys) n.4423C>G c.3184C>G c.4202C>G (p.Ser1401Cys) c.4400C>G (p.Ser1467Cys) c.4208C>G (p.Ser1403Cys) n.4489C>G n.4483C>G | |
3 | g.142515504G= | CA1407012001 | ATR | c.4394C= (p.Ser1465=) n.4423C= c.3184C= c.4202C= (p.Ser1401=) c.4400C= (p.Ser1467=) c.4208C= (p.Ser1403=) n.4489C= n.4483C= | |
3 | g.142515504G>T | CA354798815 | ATR | c.4394C>A (p.Ser1465Tyr) n.4423C>A c.3184C>A c.4202C>A (p.Ser1401Tyr) c.4400C>A (p.Ser1467Tyr) c.4208C>A (p.Ser1403Tyr) n.4489C>A n.4483C>A | |
3 | g.142515505A>C | CA354798818 | ATR | c.4393T>G (p.Ser1465Ala) n.4422T>G c.3183T>G c.4201T>G (p.Ser1401Ala) c.4399T>G (p.Ser1467Ala) c.4207T>G (p.Ser1403Ala) n.4488T>G n.4482T>G | |
3 | g.142515505A>G | CA354798823 | ATR | c.4393T>C (p.Ser1465Pro) n.4422T>C c.3183T>C c.4201T>C (p.Ser1401Pro) c.4399T>C (p.Ser1467Pro) c.4207T>C (p.Ser1403Pro) n.4488T>C n.4482T>C | |
3 | g.142515505A>T | CA354798827 | ATR | c.4393T>A (p.Ser1465Thr) n.4422T>A c.3183T>A c.4201T>A (p.Ser1401Thr) c.4399T>A (p.Ser1467Thr) c.4207T>A (p.Ser1403Thr) n.4488T>A n.4482T>A | |
3 | g.142515506A>C | CA354798837 | ATR | c.4392T>G (p.Ser1464Arg) n.4421T>G c.3182T>G c.4200T>G (p.Ser1400Arg) c.4398T>G (p.Ser1466Arg) c.4206T>G (p.Ser1402Arg) n.4487T>G n.4481T>G | |
3 | g.142515506A>G | CA436108523 | ATR | c.4392T>C (p.Ser1464=) n.4421T>C c.3182T>C c.4200T>C (p.Ser1400=) c.4398T>C (p.Ser1466=) c.4206T>C (p.Ser1402=) n.4487T>C n.4481T>C | |
3 | g.142515506A>T | CA354798839 | ATR | c.4392T>A (p.Ser1464Arg) n.4421T>A c.3182T>A c.4200T>A (p.Ser1400Arg) c.4398T>A (p.Ser1466Arg) c.4206T>A (p.Ser1402Arg) n.4487T>A n.4481T>A | |
3 | g.142515507C>A | CA354798840 | ATR | c.4391G>T (p.Ser1464Ile) n.4420G>T c.3181G>T c.4199G>T (p.Ser1400Ile) c.4397G>T (p.Ser1466Ile) c.4205G>T (p.Ser1402Ile) n.4486G>T n.4480G>T | |
3 | g.142515507C>G | CA354798841 | ATR | c.4391G>C (p.Ser1464Thr) n.4420G>C c.3181G>C c.4199G>C (p.Ser1400Thr) c.4397G>C (p.Ser1466Thr) c.4205G>C (p.Ser1402Thr) n.4486G>C n.4480G>C | |
3 | g.142515507C>T | CA354798843 | ATR | c.4391G>A (p.Ser1464Asn) n.4420G>A c.3181G>A c.4199G>A (p.Ser1400Asn) c.4397G>A (p.Ser1466Asn) c.4205G>A (p.Ser1402Asn) n.4486G>A n.4480G>A | |
3 | g.142515508T>A | CA354798848 | ATR | c.4390A>T (p.Ser1464Cys) n.4419A>T c.3180A>T c.4198A>T (p.Ser1400Cys) c.4396A>T (p.Ser1466Cys) c.4204A>T (p.Ser1402Cys) n.4485A>T n.4479A>T | dbSNP |
3 | g.142515508T>C | CA354798849 | ATR | c.4390A>G (p.Ser1464Gly) n.4419A>G c.3180A>G c.4198A>G (p.Ser1400Gly) c.4396A>G (p.Ser1466Gly) c.4204A>G (p.Ser1402Gly) n.4485A>G n.4479A>G | |
3 | g.142515508T>G | CA354798847 | ATR | c.4390A>C (p.Ser1464Arg) n.4419A>C c.3180A>C c.4198A>C (p.Ser1400Arg) c.4396A>C (p.Ser1466Arg) c.4204A>C (p.Ser1402Arg) n.4485A>C n.4479A>C | |
3 | g.142515508T= | CA1407012002 | ATR | c.4390A= (p.Ser1464=) n.4419A= c.3180A= c.4198A= (p.Ser1400=) c.4396A= (p.Ser1466=) c.4204A= (p.Ser1402=) n.4485A= n.4479A= | |
3 | g.142515509C>A | CA354798850 | ATR | c.4389G>T (p.Lys1463Asn) n.4418G>T c.3179G>T c.4197G>T (p.Lys1399Asn) c.4395G>T (p.Lys1465Asn) c.4203G>T (p.Lys1401Asn) n.4484G>T n.4478G>T | |
3 | g.142515509C>G | CA354798856 | ATR | c.4389G>C (p.Lys1463Asn) n.4418G>C c.3179G>C c.4197G>C (p.Lys1399Asn) c.4395G>C (p.Lys1465Asn) c.4203G>C (p.Lys1401Asn) n.4484G>C n.4478G>C | |
3 | g.142515509C>T | CA436108548 | ATR | c.4389G>A (p.Lys1463=) n.4418G>A c.3179G>A c.4197G>A (p.Lys1399=) c.4395G>A (p.Lys1465=) c.4203G>A (p.Lys1401=) n.4484G>A n.4478G>A | ClinVar gnomAD v4 |
3 | g.142515510T>A | CA354798858 | ATR | c.4388A>T (p.Lys1463Met) n.4417A>T c.3178A>T c.4196A>T (p.Lys1399Met) c.4394A>T (p.Lys1465Met) c.4202A>T (p.Lys1401Met) n.4483A>T n.4477A>T | |
3 | g.142515510T>C | CA2649860 | ATR | c.4388A>G (p.Lys1463Arg) n.4417A>G c.3178A>G c.4196A>G (p.Lys1399Arg) c.4394A>G (p.Lys1465Arg) c.4202A>G (p.Lys1401Arg) n.4483A>G n.4477A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.142515510T>G | CA354798862 | ATR | c.4388A>C (p.Lys1463Thr) n.4417A>C c.3178A>C c.4196A>C (p.Lys1399Thr) c.4394A>C (p.Lys1465Thr) c.4202A>C (p.Lys1401Thr) n.4483A>C n.4477A>C | |
3 | g.142515510T= | CA1407012003 | ATR | c.4388A= (p.Lys1463=) n.4417A= c.3178A= c.4196A= (p.Lys1399=) c.4394A= (p.Lys1465=) c.4202A= (p.Lys1401=) n.4483A= n.4477A= | |
3 | g.142515511T>A | CA354798868 | ATR | c.4387A>T (p.Lys1463Ter) n.4416A>T c.3177A>T c.4195A>T (p.Lys1399Ter) c.4393A>T (p.Lys1465Ter) c.4201A>T (p.Lys1401Ter) n.4482A>T n.4476A>T | |
3 | g.142515511T>C | CA354798876 | ATR | c.4387A>G (p.Lys1463Glu) n.4416A>G c.3177A>G c.4195A>G (p.Lys1399Glu) c.4393A>G (p.Lys1465Glu) c.4201A>G (p.Lys1401Glu) n.4482A>G n.4476A>G | |
3 | g.142515511T>G | CA354798878 | ATR | c.4387A>C (p.Lys1463Gln) n.4416A>C c.3177A>C c.4195A>C (p.Lys1399Gln) c.4393A>C (p.Lys1465Gln) c.4201A>C (p.Lys1401Gln) n.4482A>C n.4476A>C | |
3 | g.142515511T= | CA1407012004 | ATR | c.4387A= (p.Lys1463=) n.4416A= c.3177A= c.4195A= (p.Lys1399=) c.4393A= (p.Lys1465=) c.4201A= (p.Lys1401=) n.4482A= n.4476A= | |
3 | g.142515511_142515512insA | CA546573558 | ATR | c.4386_4387insT (p.Lys1463Ter) n.4415_4416insT c.3176_3177insT c.4194_4195insT (p.Lys1399Ter) c.4392_4393insT (p.Lys1465Ter) c.4200_4201insT (p.Lys1401Ter) n.4481_4482insT n.4475_4476insT | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.142515512G>A | CA436108568 | ATR | c.4386C>T (p.Tyr1462=) n.4415C>T c.3176C>T c.4194C>T (p.Tyr1398=) c.4392C>T (p.Tyr1464=) c.4200C>T (p.Tyr1400=) n.4481C>T n.4475C>T | gnomAD v4 |
3 | g.142515512G>C | CA354798889 | ATR | c.4386C>G (p.Tyr1462Ter) n.4415C>G c.3176C>G c.4194C>G (p.Tyr1398Ter) c.4392C>G (p.Tyr1464Ter) c.4200C>G (p.Tyr1400Ter) n.4481C>G n.4475C>G | dbSNP gnomAD v3 gnomAD v4 |
3 | g.142515512G= | CA1407012005 | ATR | c.4386C= (p.Tyr1462=) n.4415C= c.3176C= c.4194C= (p.Tyr1398=) c.4392C= (p.Tyr1464=) c.4200C= (p.Tyr1400=) n.4481C= n.4475C= | |
3 | g.142515512G>T | CA354798892 | ATR | c.4386C>A (p.Tyr1462Ter) n.4415C>A c.3176C>A c.4194C>A (p.Tyr1398Ter) c.4392C>A (p.Tyr1464Ter) c.4200C>A (p.Tyr1400Ter) n.4481C>A n.4475C>A | |
3 | g.142515513T>A | CA354798896 | ATR | c.4385A>T (p.Tyr1462Phe) n.4414A>T c.3175A>T c.4193A>T (p.Tyr1398Phe) c.4391A>T (p.Tyr1464Phe) c.4199A>T (p.Tyr1400Phe) n.4480A>T n.4474A>T | |
3 | g.142515513T>C | CA354798900 | ATR | c.4385A>G (p.Tyr1462Cys) n.4414A>G c.3175A>G c.4193A>G (p.Tyr1398Cys) c.4391A>G (p.Tyr1464Cys) c.4199A>G (p.Tyr1400Cys) n.4480A>G n.4474A>G | |
3 | g.142515513T>G | CA354798901 | ATR | c.4385A>C (p.Tyr1462Ser) n.4414A>C c.3175A>C c.4193A>C (p.Tyr1398Ser) c.4391A>C (p.Tyr1464Ser) c.4199A>C (p.Tyr1400Ser) n.4480A>C n.4474A>C | |
3 | g.142515514A>C | CA354798910 | ATR | c.4384T>G (p.Tyr1462Asp) n.4413T>G c.3174T>G c.4192T>G (p.Tyr1398Asp) c.4390T>G (p.Tyr1464Asp) c.4198T>G (p.Tyr1400Asp) n.4479T>G n.4473T>G | |
3 | g.142515514A>G | CA354798919 | ATR | c.4384T>C (p.Tyr1462His) n.4413T>C c.3174T>C c.4192T>C (p.Tyr1398His) c.4390T>C (p.Tyr1464His) c.4198T>C (p.Tyr1400His) n.4479T>C n.4473T>C | |
3 | g.142515514A>T | CA354798925 | ATR | c.4384T>A (p.Tyr1462Asn) n.4413T>A c.3174T>A c.4192T>A (p.Tyr1398Asn) c.4390T>A (p.Tyr1464Asn) c.4198T>A (p.Tyr1400Asn) n.4479T>A n.4473T>A | |
3 | g.142515515T>A | CA354798942 | ATR | c.4383A>T (p.Arg1461Ser) n.4412A>T c.3173A>T c.4191A>T (p.Arg1397Ser) c.4389A>T (p.Arg1463Ser) c.4197A>T (p.Arg1399Ser) n.4478A>T n.4472A>T | |
3 | g.142515515T>C | CA436108592 | ATR | c.4383A>G (p.Arg1461=) n.4412A>G c.3173A>G c.4191A>G (p.Arg1397=) c.4389A>G (p.Arg1463=) c.4197A>G (p.Arg1399=) n.4478A>G n.4472A>G | |
3 | g.142515515T>G | CA354798952 | ATR | c.4383A>C (p.Arg1461Ser) n.4412A>C c.3173A>C c.4191A>C (p.Arg1397Ser) c.4389A>C (p.Arg1463Ser) c.4197A>C (p.Arg1399Ser) n.4478A>C n.4472A>C | |
3 | g.142515516C>A | CA354798956 | ATR | c.4383-1G>T (n.4383-1G>T) n.4412-1G>T c.3173-1G>T c.4191-1G>T (n.4191-1G>T) c.4389-1G>T (n.4389-1G>T) c.4197-1G>T (n.4197-1G>T) n.4478-1G>T n.4472-1G>T | |
3 | g.142515516C= | CA1407012006 | ATR | c.4383-1G= (n.4383-1G=) n.4412-1G= c.3173-1G= c.4191-1G= (n.4191-1G=) c.4389-1G= (n.4389-1G=) c.4197-1G= (n.4197-1G=) n.4478-1G= n.4472-1G= | |
3 | g.142515516C>G | CA2649861 | ATR | c.4383-1G>C (n.4383-1G>C) n.4412-1G>C c.3173-1G>C c.4191-1G>C (n.4191-1G>C) c.4389-1G>C (n.4389-1G>C) c.4197-1G>C (n.4197-1G>C) n.4478-1G>C n.4472-1G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.142515516C>T | CA354798959 | ATR | c.4383-1G>A (n.4383-1G>A) n.4412-1G>A c.3173-1G>A c.4191-1G>A (n.4191-1G>A) c.4389-1G>A (n.4389-1G>A) c.4197-1G>A (n.4197-1G>A) n.4478-1G>A n.4472-1G>A | |
3 | g.142515517del | CA2577942554 | ATR | c.4383-2del (n.4383-2del) n.4412-2del c.3173-2del c.4191-2del (n.4191-2del) c.4389-2del (n.4389-2del) c.4197-2del (n.4197-2del) n.4478-2del n.4472-2del | gnomAD v4 |
3 | g.142515517T>A | CA354798961 | ATR | c.4383-2A>T (n.4383-2A>T) n.4412-2A>T c.3173-2A>T c.4191-2A>T (n.4191-2A>T) c.4389-2A>T (n.4389-2A>T) c.4197-2A>T (n.4197-2A>T) n.4478-2A>T n.4472-2A>T | |
3 | g.142515517T>C | CA354798965 | ATR | c.4383-2A>G (n.4383-2A>G) n.4412-2A>G c.3173-2A>G c.4191-2A>G (n.4191-2A>G) c.4389-2A>G (n.4389-2A>G) c.4197-2A>G (n.4197-2A>G) n.4478-2A>G n.4472-2A>G | COSMIC |
3 | g.142515517T>G | CA354798975 | ATR | c.4383-2A>C (n.4383-2A>C) n.4412-2A>C c.3173-2A>C c.4191-2A>C (n.4191-2A>C) c.4389-2A>C (n.4389-2A>C) c.4197-2A>C (n.4197-2A>C) n.4478-2A>C n.4472-2A>C | |
3 | g.142515518G>A | CA546573559 | ATR | c.4383-3C>T (n.4383-3C>T) n.4412-3C>T c.3173-3C>T c.4191-3C>T (n.4191-3C>T) c.4389-3C>T (n.4389-3C>T) c.4197-3C>T (n.4197-3C>T) n.4478-3C>T n.4472-3C>T | dbSNP gnomAD v2 gnomAD v4 |
3 | g.142515518G= | CA1407012007 | ATR | c.4383-3C= (n.4383-3C=) n.4412-3C= c.3173-3C= c.4191-3C= (n.4191-3C=) c.4389-3C= (n.4389-3C=) c.4197-3C= (n.4197-3C=) n.4478-3C= n.4472-3C= | |
3 | g.142515519dup | CA2668041877 | ATR | c.4383-4dup (n.4383-4dup) n.4412-4dup c.3173-4dup c.4191-4dup (n.4191-4dup) c.4389-4dup (n.4389-4dup) c.4197-4dup (n.4197-4dup) n.4478-4dup n.4472-4dup | gnomAD v4 |
3 | g.142515523T>A | CA2758701893 | ATR | c.4383-8A>T (n.4383-8A>T) n.4412-8A>T c.3173-8A>T c.4191-8A>T (n.4191-8A>T) c.4389-8A>T (n.4389-8A>T) c.4197-8A>T (n.4197-8A>T) n.4478-8A>T n.4472-8A>T | |
3 | g.142515525T>G | CA84720731 | ATR | c.4383-10A>C (n.4383-10A>C) n.4412-10A>C c.3173-10A>C c.4191-10A>C (n.4191-10A>C) c.4389-10A>C (n.4389-10A>C) c.4197-10A>C (n.4197-10A>C) n.4478-10A>C n.4472-10A>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.142515525T= | CA1407012008 | ATR | c.4383-10A= (n.4383-10A=) n.4412-10A= c.3173-10A= c.4191-10A= (n.4191-10A=) c.4389-10A= (n.4389-10A=) c.4197-10A= (n.4197-10A=) n.4478-10A= n.4472-10A= | |
3 | g.142515526G>A | CA2577942555 | ATR | c.4383-11C>T (n.4383-11C>T) n.4412-11C>T c.3173-11C>T c.4191-11C>T (n.4191-11C>T) c.4389-11C>T (n.4389-11C>T) c.4197-11C>T (n.4197-11C>T) n.4478-11C>T n.4472-11C>T | gnomAD v4 |
3 | g.142515527A>C | CA2704276646 | ATR | c.4383-12T>G (n.4383-12T>G) n.4412-12T>G c.3173-12T>G c.4191-12T>G (n.4191-12T>G) c.4389-12T>G (n.4389-12T>G) c.4197-12T>G (n.4197-12T>G) n.4478-12T>G n.4472-12T>G | dbSNP |
3 | g.142515529A>C | CA2758701894 | ATR | c.4383-14T>G (n.4383-14T>G) n.4412-14T>G c.3173-14T>G c.4191-14T>G (n.4191-14T>G) c.4389-14T>G (n.4389-14T>G) c.4197-14T>G (n.4197-14T>G) n.4478-14T>G n.4472-14T>G | |
3 | g.142515529A>G | CA2704276685 | ATR | c.4383-14T>C (n.4383-14T>C) n.4412-14T>C c.3173-14T>C c.4191-14T>C (n.4191-14T>C) c.4389-14T>C (n.4389-14T>C) c.4197-14T>C (n.4197-14T>C) n.4478-14T>C n.4472-14T>C | dbSNP |
3 | g.142515530A>C | CA2668041878 | ATR | c.4383-15T>G (n.4383-15T>G) n.4412-15T>G c.3173-15T>G c.4191-15T>G (n.4191-15T>G) c.4389-15T>G (n.4389-15T>G) c.4197-15T>G (n.4197-15T>G) n.4478-15T>G n.4472-15T>G | gnomAD v4 |
3 | g.142515530A>G | CA2668041879 | ATR | c.4383-15T>C (n.4383-15T>C) n.4412-15T>C c.3173-15T>C c.4191-15T>C (n.4191-15T>C) c.4389-15T>C (n.4389-15T>C) c.4197-15T>C (n.4197-15T>C) n.4478-15T>C n.4472-15T>C | gnomAD v4 |
3 | g.142515530A>T | CA2758701895 | ATR | c.4383-15T>A (n.4383-15T>A) n.4412-15T>A c.3173-15T>A c.4191-15T>A (n.4191-15T>A) c.4389-15T>A (n.4389-15T>A) c.4197-15T>A (n.4197-15T>A) n.4478-15T>A n.4472-15T>A | |
3 | g.142515530_142515534delinsATTTG | CA1407012009 | ATR | c.4383-19_4383-15delinsCAAAT (n.4383-19_4383-15delinsCAAAT) n.4412-19_4412-15delinsCAAAT c.3173-19_3173-15delinsCAAAT c.4191-19_4191-15delinsCAAAT (n.4191-19_4191-15delinsCAAAT) c.4389-19_4389-15delinsCAAAT (n.4389-19_4389-15delinsCAAAT) c.4197-19_4197-15delinsCAAAT (n.4197-19_4197-15delinsCAAAT) n.4478-19_4478-15delinsCAAAT n.4472-19_4472-15delinsCAAAT | |
3 | g.142515531T>A | CA2704276698 | ATR | c.4383-16A>T (n.4383-16A>T) n.4412-16A>T c.3173-16A>T c.4191-16A>T (n.4191-16A>T) c.4389-16A>T (n.4389-16A>T) c.4197-16A>T (n.4197-16A>T) n.4478-16A>T n.4472-16A>T | dbSNP |
3 | g.142515531T>C | CA2577942556 | ATR | c.4383-16A>G (n.4383-16A>G) n.4412-16A>G c.3173-16A>G c.4191-16A>G (n.4191-16A>G) c.4389-16A>G (n.4389-16A>G) c.4197-16A>G (n.4197-16A>G) n.4478-16A>G n.4472-16A>G | |
3 | g.142515531T>G | CA2668041880 | ATR | c.4383-16A>C (n.4383-16A>C) n.4412-16A>C c.3173-16A>C c.4191-16A>C (n.4191-16A>C) c.4389-16A>C (n.4389-16A>C) c.4197-16A>C (n.4197-16A>C) n.4478-16A>C n.4472-16A>C | gnomAD v4 |
3 | g.142515534_142515537del | CA2649862 | ATR | c.4383-19_4383-16del (n.4383-19_4383-16del) n.4412-19_4412-16del c.3173-19_3173-16del c.4191-19_4191-16del (n.4191-19_4191-16del) c.4389-19_4389-16del (n.4389-19_4389-16del) c.4197-19_4197-16del (n.4197-19_4197-16del) n.4478-19_4478-16del n.4472-19_4472-16del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.142515531_142515532insAA | CA2758701896 | ATR | c.4383-17_4383-16insTT (n.4383-17_4383-16insTT) n.4412-17_4412-16insTT c.3173-17_3173-16insTT c.4191-17_4191-16insTT (n.4191-17_4191-16insTT) c.4389-17_4389-16insTT (n.4389-17_4389-16insTT) c.4197-17_4197-16insTT (n.4197-17_4197-16insTT) n.4478-17_4478-16insTT n.4472-17_4472-16insTT | |
3 | g.142515532T>C | CA899915504 | ATR | c.4383-17A>G (n.4383-17A>G) n.4412-17A>G c.3173-17A>G c.4191-17A>G (n.4191-17A>G) c.4389-17A>G (n.4389-17A>G) c.4197-17A>G (n.4197-17A>G) n.4478-17A>G n.4472-17A>G | dbSNP gnomAD v4 |
3 | g.142515532T>G | CA899915505 | ATR | c.4383-17A>C (n.4383-17A>C) n.4412-17A>C c.3173-17A>C c.4191-17A>C (n.4191-17A>C) c.4389-17A>C (n.4389-17A>C) c.4197-17A>C (n.4197-17A>C) n.4478-17A>C n.4472-17A>C | ClinVar dbSNP gnomAD v4 |
3 | g.142515532T= | CA1407012010 | ATR | c.4383-17A= (n.4383-17A=) n.4412-17A= c.3173-17A= c.4191-17A= (n.4191-17A=) c.4389-17A= (n.4389-17A=) c.4197-17A= (n.4197-17A=) n.4478-17A= n.4472-17A= | |
3 | g.142515533T>G | CA2704276775 | ATR | c.4383-18A>C (n.4383-18A>C) n.4412-18A>C c.3173-18A>C c.4191-18A>C (n.4191-18A>C) c.4389-18A>C (n.4389-18A>C) c.4197-18A>C (n.4197-18A>C) n.4478-18A>C n.4472-18A>C | dbSNP |
3 | g.142515534G>A | CA2649863 | ATR | c.4383-19C>T (n.4383-19C>T) n.4412-19C>T c.3173-19C>T c.4191-19C>T (n.4191-19C>T) c.4389-19C>T (n.4389-19C>T) c.4197-19C>T (n.4197-19C>T) n.4478-19C>T n.4472-19C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.142515534G>C | CA2668041881 | ATR | c.4383-19C>G (n.4383-19C>G) n.4412-19C>G c.3173-19C>G c.4191-19C>G (n.4191-19C>G) c.4389-19C>G (n.4389-19C>G) c.4197-19C>G (n.4197-19C>G) n.4478-19C>G n.4472-19C>G | gnomAD v4 |
3 | g.142515534G= | CA1407012011 | ATR | c.4383-19C= (n.4383-19C=) n.4412-19C= c.3173-19C= c.4191-19C= (n.4191-19C=) c.4389-19C= (n.4389-19C=) c.4197-19C= (n.4197-19C=) n.4478-19C= n.4472-19C= | |
3 | g.142515534G>T | CA2668041882 | ATR | c.4383-19C>A (n.4383-19C>A) n.4412-19C>A c.3173-19C>A c.4191-19C>A (n.4191-19C>A) c.4389-19C>A (n.4389-19C>A) c.4197-19C>A (n.4197-19C>A) n.4478-19C>A n.4472-19C>A | gnomAD v4 |
3 | g.142515537del | CA2668041883 | ATR | c.4383-20del (n.4383-20del) n.4412-20del c.3173-20del c.4191-20del (n.4191-20del) c.4389-20del (n.4389-20del) c.4197-20del (n.4197-20del) n.4478-20del n.4472-20del | gnomAD v4 |
3 | g.142515535_142515536insCAGCA | CA2704276806 | ATR | c.4383-21_4383-20insTGCTG (n.4383-21_4383-20insTGCTG) n.4412-21_4412-20insTGCTG c.3173-21_3173-20insTGCTG c.4191-21_4191-20insTGCTG (n.4191-21_4191-20insTGCTG) c.4389-21_4389-20insTGCTG (n.4389-21_4389-20insTGCTG) c.4197-21_4197-20insTGCTG (n.4197-21_4197-20insTGCTG) n.4478-21_4478-20insTGCTG n.4472-21_4472-20insTGCTG | dbSNP |
3 | g.142515536T>C | CA546573560 | ATR | c.4383-21A>G (n.4383-21A>G) n.4412-21A>G c.3173-21A>G c.4191-21A>G (n.4191-21A>G) c.4389-21A>G (n.4389-21A>G) c.4197-21A>G (n.4197-21A>G) n.4478-21A>G n.4472-21A>G | dbSNP gnomAD v2 gnomAD v4 |
3 | g.142515536T= | CA1407012013 | ATR | c.4383-21A= (n.4383-21A=) n.4412-21A= c.3173-21A= c.4191-21A= (n.4191-21A=) c.4389-21A= (n.4389-21A=) c.4197-21A= (n.4197-21A=) n.4478-21A= n.4472-21A= | |
3 | g.142515536_142515547delinsTTATTAAAAAGA | CA1407012012 | ATR | c.4383-32_4383-21delinsTCTTTTTAATAA (n.4383-32_4383-21delinsTCTTTTTAATAA) n.4412-32_4412-21delinsTCTTTTTAATAA c.3173-32_3173-21delinsTCTTTTTAATAA c.4191-32_4191-21delinsTCTTTTTAATAA (n.4191-32_4191-21delinsTCTTTTTAATAA) c.4389-32_4389-21delinsTCTTTTTAATAA (n.4389-32_4389-21delinsTCTTTTTAATAA) c.4197-32_4197-21delinsTCTTTTTAATAA (n.4197-32_4197-21delinsTCTTTTTAATAA) n.4478-32_4478-21delinsTCTTTTTAATAA n.4472-32_4472-21delinsTCTTTTTAATAA | |
3 | g.142515537T>A | CA2668041884 | ATR | c.4383-22A>T (n.4383-22A>T) n.4412-22A>T c.3173-22A>T c.4191-22A>T (n.4191-22A>T) c.4389-22A>T (n.4389-22A>T) c.4197-22A>T (n.4197-22A>T) n.4478-22A>T n.4472-22A>T | gnomAD v4 |
3 | g.142515537T>G | CA1407012015 | ATR | c.4383-22A>C (n.4383-22A>C) n.4412-22A>C c.3173-22A>C c.4191-22A>C (n.4191-22A>C) c.4389-22A>C (n.4389-22A>C) c.4197-22A>C (n.4197-22A>C) n.4478-22A>C n.4472-22A>C | dbSNP gnomAD v4 |
3 | g.142515537T= | CA1407012014 | ATR | c.4383-22A= (n.4383-22A=) n.4412-22A= c.3173-22A= c.4191-22A= (n.4191-22A=) c.4389-22A= (n.4389-22A=) c.4197-22A= (n.4197-22A=) n.4478-22A= n.4472-22A= | |
3 | g.142515539_142515549del | CA899915512 | ATR | c.4383-32_4383-22del (n.4383-32_4383-22del) n.4412-32_4412-22del c.3173-32_3173-22del c.4191-32_4191-22del (n.4191-32_4191-22del) c.4389-32_4389-22del (n.4389-32_4389-22del) c.4197-32_4197-22del (n.4197-32_4197-22del) n.4478-32_4478-22del n.4472-32_4472-22del | dbSNP gnomAD v3 gnomAD v4 |
3 | g.142515538A= | CA1407012016 | ATR | c.4383-23T= (n.4383-23T=) n.4412-23T= c.3173-23T= c.4191-23T= (n.4191-23T=) c.4389-23T= (n.4389-23T=) c.4197-23T= (n.4197-23T=) n.4478-23T= n.4472-23T= | |
3 | g.142515538A>T | CA546573561 | ATR | c.4383-23T>A (n.4383-23T>A) n.4412-23T>A c.3173-23T>A c.4191-23T>A (n.4191-23T>A) c.4389-23T>A (n.4389-23T>A) c.4197-23T>A (n.4197-23T>A) n.4478-23T>A n.4472-23T>A | dbSNP gnomAD v2 |
3 | g.142515539T>G | CA1054331983 | ATR | c.4383-24A>C (n.4383-24A>C) n.4412-24A>C c.3173-24A>C c.4191-24A>C (n.4191-24A>C) c.4389-24A>C (n.4389-24A>C) c.4197-24A>C (n.4197-24A>C) n.4478-24A>C n.4472-24A>C | dbSNP gnomAD v3 gnomAD v4 |
3 | g.142515539T= | CA1407012017 | ATR | c.4383-24A= (n.4383-24A=) n.4412-24A= c.3173-24A= c.4191-24A= (n.4191-24A=) c.4389-24A= (n.4389-24A=) c.4197-24A= (n.4197-24A=) n.4478-24A= n.4472-24A= | |
3 | g.142515540T>A | CA2668041885 | ATR | c.4383-25A>T (n.4383-25A>T) n.4412-25A>T c.3173-25A>T c.4191-25A>T (n.4191-25A>T) c.4389-25A>T (n.4389-25A>T) c.4197-25A>T (n.4197-25A>T) n.4478-25A>T n.4472-25A>T | gnomAD v4 |
3 | g.142515540T>C | CA2649864 | ATR | c.4383-25A>G (n.4383-25A>G) n.4412-25A>G c.3173-25A>G c.4191-25A>G (n.4191-25A>G) c.4389-25A>G (n.4389-25A>G) c.4197-25A>G (n.4197-25A>G) n.4478-25A>G n.4472-25A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.142515540T= | CA1407012019 | ATR | c.4383-25A= (n.4383-25A=) n.4412-25A= c.3173-25A= c.4191-25A= (n.4191-25A=) c.4389-25A= (n.4389-25A=) c.4197-25A= (n.4197-25A=) n.4478-25A= n.4472-25A= | |
3 | g.142515540_142515541delinsTA | CA1407012018 | ATR | c.4383-26_4383-25delinsTA (n.4383-26_4383-25delinsTA) n.4412-26_4412-25delinsTA c.3173-26_3173-25delinsTA c.4191-26_4191-25delinsTA (n.4191-26_4191-25delinsTA) c.4389-26_4389-25delinsTA (n.4389-26_4389-25delinsTA) c.4197-26_4197-25delinsTA (n.4197-26_4197-25delinsTA) n.4478-26_4478-25delinsTA n.4472-26_4472-25delinsTA | |
3 | g.142515545dup | CA2668041886 | ATR | c.4383-26dup (n.4383-26dup) n.4412-26dup c.3173-26dup c.4191-26dup (n.4191-26dup) c.4389-26dup (n.4389-26dup) c.4197-26dup (n.4197-26dup) n.4478-26dup n.4472-26dup | gnomAD v4 |
3 | g.142515545del | CA2649865 | ATR | c.4383-26del (n.4383-26del) n.4412-26del c.3173-26del c.4191-26del (n.4191-26del) c.4389-26del (n.4389-26del) c.4197-26del (n.4197-26del) n.4478-26del n.4472-26del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.142515542A>G | CA2577942557 | ATR | c.4383-27T>C (n.4383-27T>C) n.4412-27T>C c.3173-27T>C c.4191-27T>C (n.4191-27T>C) c.4389-27T>C (n.4389-27T>C) c.4197-27T>C (n.4197-27T>C) n.4478-27T>C n.4472-27T>C | |
3 | g.142515543A= | CA1407012020 | ATR | c.4383-28T= (n.4383-28T=) n.4412-28T= c.3173-28T= c.4191-28T= (n.4191-28T=) c.4389-28T= (n.4389-28T=) c.4197-28T= (n.4197-28T=) n.4478-28T= n.4472-28T= | |
3 | g.142515543A>G | CA899915534 | ATR | c.4383-28T>C (n.4383-28T>C) n.4412-28T>C c.3173-28T>C c.4191-28T>C (n.4191-28T>C) c.4389-28T>C (n.4389-28T>C) c.4197-28T>C (n.4197-28T>C) n.4478-28T>C n.4472-28T>C | dbSNP gnomAD v4 |
3 | g.142515544A>C | CA2668041887 | ATR | c.4383-29T>G (n.4383-29T>G) n.4412-29T>G c.3173-29T>G c.4191-29T>G (n.4191-29T>G) c.4389-29T>G (n.4389-29T>G) c.4197-29T>G (n.4197-29T>G) n.4478-29T>G n.4472-29T>G | gnomAD v4 |
3 | g.142515545A>T | CA2668041888 | ATR | c.4383-30T>A (n.4383-30T>A) n.4412-30T>A c.3173-30T>A c.4191-30T>A (n.4191-30T>A) c.4389-30T>A (n.4389-30T>A) c.4197-30T>A (n.4197-30T>A) n.4478-30T>A n.4472-30T>A | gnomAD v4 |
3 | g.142515547A>G | CA2668041889 | ATR | c.4383-32T>C (n.4383-32T>C) n.4412-32T>C c.3173-32T>C c.4191-32T>C (n.4191-32T>C) c.4389-32T>C (n.4389-32T>C) c.4197-32T>C (n.4197-32T>C) n.4478-32T>C n.4472-32T>C | gnomAD v4 |