UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.108293338_108293343del | CA2573146680 | ATM | c.4637_4642del (p.Val1546_Ile1547del) c.*4108_*4113del (n.*4108_*4113del) n.4787_4792del c.4611+545_4611+550del (n.4611+545_4611+550del) c.4472_4477del (p.Val1491_Ile1492del) n.852_857del c.444-1589_444-1584del (n.444-1589_444-1584del) c.593_598del (p.Val198_Ile199del) c.3593_3598del (p.Val1198_Ile1199del) c.3329_3334del (p.Val1110_Ile1111del) n.5370_5375del | ClinVar dbSNP |
| 11 | g.108293343_108293346del | CA10579158 | ATM | c.4642_4645del (p.Asp1548ThrfsTer14) c.*4113_*4116del (n.*4113_*4116del) n.4792_4795del c.4611+550_4611+553del (n.4611+550_4611+553del) c.4477_4480del (p.Asp1493ThrfsTer14) n.857_860del c.444-1584_444-1581del (n.444-1584_444-1581del) c.598_601del (p.Asp200ThrfsTer14) c.3598_3601del (p.Asp1200ThrfsTer14) c.3334_3337del (p.Asp1112ThrfsTer14) n.5375_5378del | ClinVar dbSNP |
| 11 | g.108293343G>A | CA382534627 | ATM | c.4642G>A (p.Asp1548Asn) c.*4113G>A (n.*4113G>A) n.4792G>A c.4611+550G>A (n.4611+550G>A) c.4477G>A (p.Asp1493Asn) n.857G>A c.444-1584G>A (n.444-1584G>A) c.598G>A (p.Asp200Asn) c.3598G>A (p.Asp1200Asn) c.3334G>A (p.Asp1112Asn) n.5375G>A | dbSNP |
| 11 | g.108293343G>C | CA382534628 | ATM | c.4642G>C (p.Asp1548His) c.*4113G>C (n.*4113G>C) n.4792G>C c.4611+550G>C (n.4611+550G>C) c.4477G>C (p.Asp1493His) n.857G>C c.444-1584G>C (n.444-1584G>C) c.598G>C (p.Asp200His) c.3598G>C (p.Asp1200His) c.3334G>C (p.Asp1112His) n.5375G>C | dbSNP |
| 11 | g.108293343G= | CA1998790090 | ATM | c.4642G= (p.Asp1548=) c.*4113G= (n.*4113G=) n.4792G= c.4611+550G= (n.4611+550G=) c.4477G= (p.Asp1493=) n.857G= c.444-1584G= (n.444-1584G=) c.598G= (p.Asp200=) c.3598G= (p.Asp1200=) c.3334G= (p.Asp1112=) n.5375G= | |
| 11 | g.108293343G>T | CA382534629 | ATM | c.4642G>T (p.Asp1548Tyr) c.*4113G>T (n.*4113G>T) n.4792G>T c.4611+550G>T (n.4611+550G>T) c.4477G>T (p.Asp1493Tyr) n.857G>T c.444-1584G>T (n.444-1584G>T) c.598G>T (p.Asp200Tyr) c.3598G>T (p.Asp1200Tyr) c.3334G>T (p.Asp1112Tyr) n.5375G>T | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.108293343_108293344delinsTC | CA2697558841 | ATM | c.4642_4643delinsTC (p.Asp1548Ser) c.*4113_*4114delinsTC (n.*4113_*4114delinsTC) n.4792_4793delinsTC c.4611+550_4611+551delinsTC (n.4611+550_4611+551delinsTC) c.4477_4478delinsTC (p.Asp1493Ser) n.857_858delinsTC c.444-1584_444-1583delinsTC (n.444-1584_444-1583delinsTC) c.598_599delinsTC (p.Asp200Ser) c.3598_3599delinsTC (p.Asp1200Ser) c.3334_3335delinsTC (p.Asp1112Ser) n.5375_5376delinsTC | ClinVar |
| 11 | g.108293344A= | CA1998790094 | ATM | c.4643A= (p.Asp1548=) c.*4114A= (n.*4114A=) n.4793A= c.4611+551A= (n.4611+551A=) c.4478A= (p.Asp1493=) n.858A= c.444-1583A= (n.444-1583A=) c.599A= (p.Asp200=) c.3599A= (p.Asp1200=) c.3335A= (p.Asp1112=) n.5376A= | |
| 11 | g.108293344A>C | CA382534630 | ATM | c.4643A>C (p.Asp1548Ala) c.*4114A>C (n.*4114A>C) n.4793A>C c.4611+551A>C (n.4611+551A>C) c.4478A>C (p.Asp1493Ala) n.858A>C c.444-1583A>C (n.444-1583A>C) c.599A>C (p.Asp200Ala) c.3599A>C (p.Asp1200Ala) c.3335A>C (p.Asp1112Ala) n.5376A>C | dbSNP |
| 11 | g.108293344A>G | CA382534631 | ATM | c.4643A>G (p.Asp1548Gly) c.*4114A>G (n.*4114A>G) n.4793A>G c.4611+551A>G (n.4611+551A>G) c.4478A>G (p.Asp1493Gly) n.858A>G c.444-1583A>G (n.444-1583A>G) c.599A>G (p.Asp200Gly) c.3599A>G (p.Asp1200Gly) c.3335A>G (p.Asp1112Gly) n.5376A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.108293344A>T | CA382534632 | ATM | c.4643A>T (p.Asp1548Val) c.*4114A>T (n.*4114A>T) n.4793A>T c.4611+551A>T (n.4611+551A>T) c.4478A>T (p.Asp1493Val) n.858A>T c.444-1583A>T (n.444-1583A>T) c.599A>T (p.Asp200Val) c.3599A>T (p.Asp1200Val) c.3335A>T (p.Asp1112Val) n.5376A>T | ClinVar dbSNP |
| 11 | g.108293345T>A | CA382534633 | ATM | c.4644T>A (p.Asp1548Glu) c.*4115T>A (n.*4115T>A) n.4794T>A n.1T>A c.4611+552T>A (n.4611+552T>A) c.4479T>A (p.Asp1493Glu) n.859T>A c.444-1582T>A (n.444-1582T>A) c.600T>A (p.Asp200Glu) c.3600T>A (p.Asp1200Glu) c.3336T>A (p.Asp1112Glu) n.5377T>A | |
| 11 | g.108293345T>C | CA476674381 | ATM | c.4644T>C (p.Asp1548=) c.*4115T>C (n.*4115T>C) n.4794T>C n.1T>C c.4611+552T>C (n.4611+552T>C) c.4479T>C (p.Asp1493=) n.859T>C c.444-1582T>C (n.444-1582T>C) c.600T>C (p.Asp200=) c.3600T>C (p.Asp1200=) c.3336T>C (p.Asp1112=) n.5377T>C | |
| 11 | g.108293345T>G | CA382534634 | ATM | c.4644T>G (p.Asp1548Glu) c.*4115T>G (n.*4115T>G) n.4794T>G n.1T>G c.4611+552T>G (n.4611+552T>G) c.4479T>G (p.Asp1493Glu) n.859T>G c.444-1582T>G (n.444-1582T>G) c.600T>G (p.Asp200Glu) c.3600T>G (p.Asp1200Glu) c.3336T>G (p.Asp1112Glu) n.5377T>G | |
| 11 | g.108293346A= | CA1998790098 | ATM | c.4645A= (p.Asn1549=) c.*4116A= (n.*4116A=) n.4795A= n.2A= c.4611+553A= (n.4611+553A=) c.4480A= (p.Asn1494=) n.860A= c.444-1581A= (n.444-1581A=) c.601A= (p.Asn201=) c.3601A= (p.Asn1201=) c.3337A= (p.Asn1113=) n.5378A= | |
| 11 | g.108293346A>C | CA382534637 | ATM | c.4645A>C (p.Asn1549His) c.*4116A>C (n.*4116A>C) n.4795A>C n.2A>C c.4611+553A>C (n.4611+553A>C) c.4480A>C (p.Asn1494His) n.860A>C c.444-1581A>C (n.444-1581A>C) c.601A>C (p.Asn201His) c.3601A>C (p.Asn1201His) c.3337A>C (p.Asn1113His) n.5378A>C | |
| 11 | g.108293346A>G | CA382534636 | ATM | c.4645A>G (p.Asn1549Asp) c.*4116A>G (n.*4116A>G) n.4795A>G n.2A>G c.4611+553A>G (n.4611+553A>G) c.4480A>G (p.Asn1494Asp) n.860A>G c.444-1581A>G (n.444-1581A>G) c.601A>G (p.Asn201Asp) c.3601A>G (p.Asn1201Asp) c.3337A>G (p.Asn1113Asp) n.5378A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.108293346A>T | CA382534635 | ATM | c.4645A>T (p.Asn1549Tyr) c.*4116A>T (n.*4116A>T) n.4795A>T n.2A>T c.4611+553A>T (n.4611+553A>T) c.4480A>T (p.Asn1494Tyr) n.860A>T c.444-1581A>T (n.444-1581A>T) c.601A>T (p.Asn201Tyr) c.3601A>T (p.Asn1201Tyr) c.3337A>T (p.Asn1113Tyr) n.5378A>T | dbSNP |
| 11 | g.108293347A>C | CA382534638 | ATM | c.4646A>C (p.Asn1549Thr) c.*4117A>C (n.*4117A>C) n.4796A>C n.3A>C c.4611+554A>C (n.4611+554A>C) c.4481A>C (p.Asn1494Thr) n.861A>C c.444-1580A>C (n.444-1580A>C) c.602A>C (p.Asn201Thr) c.3602A>C (p.Asn1201Thr) c.3338A>C (p.Asn1113Thr) n.5379A>C | |
| 11 | g.108293347A>G | CA382534639 | ATM | c.4646A>G (p.Asn1549Ser) c.*4117A>G (n.*4117A>G) n.4796A>G n.3A>G c.4611+554A>G (n.4611+554A>G) c.4481A>G (p.Asn1494Ser) n.861A>G c.444-1580A>G (n.444-1580A>G) c.602A>G (p.Asn201Ser) c.3602A>G (p.Asn1201Ser) c.3338A>G (p.Asn1113Ser) n.5379A>G | |
| 11 | g.108293347A>T | CA382534640 | ATM | c.4646A>T (p.Asn1549Ile) c.*4117A>T (n.*4117A>T) n.4796A>T n.3A>T c.4611+554A>T (n.4611+554A>T) c.4481A>T (p.Asn1494Ile) n.861A>T c.444-1580A>T (n.444-1580A>T) c.602A>T (p.Asn201Ile) c.3602A>T (p.Asn1201Ile) c.3338A>T (p.Asn1113Ile) n.5379A>T | dbSNP |
| 11 | g.108293348C>A | CA382534641 | ATM | c.4647C>A (p.Asn1549Lys) c.*4118C>A (n.*4118C>A) n.4797C>A n.4C>A c.4611+555C>A (n.4611+555C>A) c.4482C>A (p.Asn1494Lys) n.862C>A c.444-1579C>A (n.444-1579C>A) c.603C>A (p.Asn201Lys) c.3603C>A (p.Asn1201Lys) c.3339C>A (p.Asn1113Lys) n.5380C>A | gnomAD v4 |
| 11 | g.108293348C= | CA1998790105 | ATM | c.4647C= (p.Asn1549=) c.*4118C= (n.*4118C=) n.4797C= n.4C= c.4611+555C= (n.4611+555C=) c.4482C= (p.Asn1494=) n.862C= c.444-1579C= (n.444-1579C=) c.603C= (p.Asn201=) c.3603C= (p.Asn1201=) c.3339C= (p.Asn1113=) n.5380C= | |
| 11 | g.108293348C>G | CA382534642 | ATM | c.4647C>G (p.Asn1549Lys) c.*4118C>G (n.*4118C>G) n.4797C>G n.4C>G c.4611+555C>G (n.4611+555C>G) c.4482C>G (p.Asn1494Lys) n.862C>G c.444-1579C>G (n.444-1579C>G) c.603C>G (p.Asn201Lys) c.3603C>G (p.Asn1201Lys) c.3339C>G (p.Asn1113Lys) n.5380C>G | ClinVar dbSNP |
| 11 | g.108293348C>T | CA476674382 | ATM | c.4647C>T (p.Asn1549=) c.*4118C>T (n.*4118C>T) n.4797C>T n.4C>T c.4611+555C>T (n.4611+555C>T) c.4482C>T (p.Asn1494=) n.862C>T c.444-1579C>T (n.444-1579C>T) c.603C>T (p.Asn201=) c.3603C>T (p.Asn1201=) c.3339C>T (p.Asn1113=) n.5380C>T | ClinVar dbSNP |
| 11 | g.108293349A= | CA1998790108 | ATM | c.4648A= (p.Lys1550=) c.*4119A= (n.*4119A=) n.4798A= n.5A= c.4611+556A= (n.4611+556A=) c.4483A= (p.Lys1495=) n.863A= c.444-1578A= (n.444-1578A=) c.604A= (p.Lys202=) c.3604A= (p.Lys1202=) c.3340A= (p.Lys1114=) n.5381A= | |
| 11 | g.108293349A>C | CA382534643 | ATM | c.4648A>C (p.Lys1550Gln) c.*4119A>C (n.*4119A>C) n.4798A>C n.5A>C c.4611+556A>C (n.4611+556A>C) c.4483A>C (p.Lys1495Gln) n.863A>C c.444-1578A>C (n.444-1578A>C) c.604A>C (p.Lys202Gln) c.3604A>C (p.Lys1202Gln) c.3340A>C (p.Lys1114Gln) n.5381A>C | |
| 11 | g.108293349A>G | CA382534644 | ATM | c.4648A>G (p.Lys1550Glu) c.*4119A>G (n.*4119A>G) n.4798A>G n.5A>G c.4611+556A>G (n.4611+556A>G) c.4483A>G (p.Lys1495Glu) n.863A>G c.444-1578A>G (n.444-1578A>G) c.604A>G (p.Lys202Glu) c.3604A>G (p.Lys1202Glu) c.3340A>G (p.Lys1114Glu) n.5381A>G | ClinVar dbSNP |
| 11 | g.108293349A>T | CA382534645 | ATM | c.4648A>T (p.Lys1550Ter) c.*4119A>T (n.*4119A>T) n.4798A>T n.5A>T c.4611+556A>T (n.4611+556A>T) c.4483A>T (p.Lys1495Ter) n.863A>T c.444-1578A>T (n.444-1578A>T) c.604A>T (p.Lys202Ter) c.3604A>T (p.Lys1202Ter) c.3340A>T (p.Lys1114Ter) n.5381A>T | dbSNP |
| 11 | g.108293350del | CA2695214777 | ATM | c.4649del (p.Lys1550ArgfsTer13) c.*4120del (n.*4120del) n.4799del n.6del c.4611+557del (n.4611+557del) c.4484del (p.Lys1495ArgfsTer13) n.864del c.444-1577del (n.444-1577del) c.605del (p.Lys202ArgfsTer13) c.3605del (p.Lys1202ArgfsTer13) c.3341del (p.Lys1114ArgfsTer13) n.5382del | |
| 11 | g.108293350A>C | CA382534646 | ATM | c.4649A>C (p.Lys1550Thr) c.*4120A>C (n.*4120A>C) n.4799A>C n.6A>C c.4611+557A>C (n.4611+557A>C) c.4484A>C (p.Lys1495Thr) n.864A>C c.444-1577A>C (n.444-1577A>C) c.605A>C (p.Lys202Thr) c.3605A>C (p.Lys1202Thr) c.3341A>C (p.Lys1114Thr) n.5382A>C | |
| 11 | g.108293350A>G | CA382534647 | ATM | c.4649A>G (p.Lys1550Arg) c.*4120A>G (n.*4120A>G) n.4799A>G n.6A>G c.4611+557A>G (n.4611+557A>G) c.4484A>G (p.Lys1495Arg) n.864A>G c.444-1577A>G (n.444-1577A>G) c.605A>G (p.Lys202Arg) c.3605A>G (p.Lys1202Arg) c.3341A>G (p.Lys1114Arg) n.5382A>G | ClinVar gnomAD v4 |
| 11 | g.108293350A>T | CA382534648 | ATM | c.4649A>T (p.Lys1550Met) c.*4120A>T (n.*4120A>T) n.4799A>T n.6A>T c.4611+557A>T (n.4611+557A>T) c.4484A>T (p.Lys1495Met) n.864A>T c.444-1577A>T (n.444-1577A>T) c.605A>T (p.Lys202Met) c.3605A>T (p.Lys1202Met) c.3341A>T (p.Lys1114Met) n.5382A>T | |
| 11 | g.108293351G>A | CA476674383 | ATM | c.4650G>A (p.Lys1550=) c.*4121G>A (n.*4121G>A) n.4800G>A n.7G>A c.4611+558G>A (n.4611+558G>A) c.4485G>A (p.Lys1495=) n.865G>A c.444-1576G>A (n.444-1576G>A) c.606G>A (p.Lys202=) c.3606G>A (p.Lys1202=) c.3342G>A (p.Lys1114=) n.5383G>A | gnomAD v4 |
| 11 | g.108293351G>C | CA382534649 | ATM | c.4650G>C (p.Lys1550Asn) c.*4121G>C (n.*4121G>C) n.4800G>C n.7G>C c.4611+558G>C (n.4611+558G>C) c.4485G>C (p.Lys1495Asn) n.865G>C c.444-1576G>C (n.444-1576G>C) c.606G>C (p.Lys202Asn) c.3606G>C (p.Lys1202Asn) c.3342G>C (p.Lys1114Asn) n.5383G>C | dbSNP |
| 11 | g.108293351G= | CA1998790114 | ATM | c.4650G= (p.Lys1550=) c.*4121G= (n.*4121G=) n.4800G= n.7G= c.4611+558G= (n.4611+558G=) c.4485G= (p.Lys1495=) n.865G= c.444-1576G= (n.444-1576G=) c.606G= (p.Lys202=) c.3606G= (p.Lys1202=) c.3342G= (p.Lys1114=) n.5383G= | |
| 11 | g.108293351G>T | CA10579159 | ATM | c.4650G>T (p.Lys1550Asn) c.*4121G>T (n.*4121G>T) n.4800G>T n.7G>T c.4611+558G>T (n.4611+558G>T) c.4485G>T (p.Lys1495Asn) n.865G>T c.444-1576G>T (n.444-1576G>T) c.606G>T (p.Lys202Asn) c.3606G>T (p.Lys1202Asn) c.3342G>T (p.Lys1114Asn) n.5383G>T | ClinVar dbSNP |
| 11 | g.108293352G>A | CA382534650 | ATM | c.4651G>A (p.Asp1551Asn) c.*4122G>A (n.*4122G>A) n.4801G>A n.8G>A c.4611+559G>A (n.4611+559G>A) c.4486G>A (p.Asp1496Asn) n.866G>A c.444-1575G>A (n.444-1575G>A) c.607G>A (p.Asp203Asn) c.3607G>A (p.Asp1203Asn) c.3343G>A (p.Asp1115Asn) n.5384G>A | dbSNP |
| 11 | g.108293352G>C | CA382534651 | ATM | c.4651G>C (p.Asp1551His) c.*4122G>C (n.*4122G>C) n.4801G>C n.8G>C c.4611+559G>C (n.4611+559G>C) c.4486G>C (p.Asp1496His) n.866G>C c.444-1575G>C (n.444-1575G>C) c.607G>C (p.Asp203His) c.3607G>C (p.Asp1203His) c.3343G>C (p.Asp1115His) n.5384G>C | dbSNP |
| 11 | g.108293352G= | CA1998790118 | ATM | c.4651G= (p.Asp1551=) c.*4122G= (n.*4122G=) n.4801G= n.8G= c.4611+559G= (n.4611+559G=) c.4486G= (p.Asp1496=) n.866G= c.444-1575G= (n.444-1575G=) c.607G= (p.Asp203=) c.3607G= (p.Asp1203=) c.3343G= (p.Asp1115=) n.5384G= | |
| 11 | g.108293352G>T | CA382534652 | ATM | c.4651G>T (p.Asp1551Tyr) c.*4122G>T (n.*4122G>T) n.4801G>T n.8G>T c.4611+559G>T (n.4611+559G>T) c.4486G>T (p.Asp1496Tyr) n.866G>T c.444-1575G>T (n.444-1575G>T) c.607G>T (p.Asp203Tyr) c.3607G>T (p.Asp1203Tyr) c.3343G>T (p.Asp1115Tyr) n.5384G>T | dbSNP |
| 11 | g.108293353A= | CA1998790124 | ATM | c.4652A= (p.Asp1551=) c.*4123A= (n.*4123A=) n.4802A= n.9A= c.4611+560A= (n.4611+560A=) c.4487A= (p.Asp1496=) n.867A= c.444-1574A= (n.444-1574A=) c.608A= (p.Asp203=) c.3608A= (p.Asp1203=) c.3344A= (p.Asp1115=) n.5385A= | |
| 11 | g.108293353A>C | CA382534653 | ATM | c.4652A>C (p.Asp1551Ala) c.*4123A>C (n.*4123A>C) n.4802A>C n.9A>C c.4611+560A>C (n.4611+560A>C) c.4487A>C (p.Asp1496Ala) n.867A>C c.444-1574A>C (n.444-1574A>C) c.608A>C (p.Asp203Ala) c.3608A>C (p.Asp1203Ala) c.3344A>C (p.Asp1115Ala) n.5385A>C | |
| 11 | g.108293353A>G | CA382534654 | ATM | c.4652A>G (p.Asp1551Gly) c.*4123A>G (n.*4123A>G) n.4802A>G n.9A>G c.4611+560A>G (n.4611+560A>G) c.4487A>G (p.Asp1496Gly) n.867A>G c.444-1574A>G (n.444-1574A>G) c.608A>G (p.Asp203Gly) c.3608A>G (p.Asp1203Gly) c.3344A>G (p.Asp1115Gly) n.5385A>G | ClinVar dbSNP gnomAD v4 |
| 11 | g.108293353A>T | CA382534655 | ATM | c.4652A>T (p.Asp1551Val) c.*4123A>T (n.*4123A>T) n.4802A>T n.9A>T c.4611+560A>T (n.4611+560A>T) c.4487A>T (p.Asp1496Val) n.867A>T c.444-1574A>T (n.444-1574A>T) c.608A>T (p.Asp203Val) c.3608A>T (p.Asp1203Val) c.3344A>T (p.Asp1115Val) n.5385A>T | dbSNP |
| 11 | g.108293354_108293373dup | CA916080475 | ATM | c.4653_4672dup (p.Thr1558IlefsTer12) c.*4124_*4143dup (n.*4124_*4143dup) n.4803_4822dup n.10_29dup c.4611+561_4611+580dup (n.4611+561_4611+580dup) c.4488_4507dup (p.Thr1503IlefsTer12) n.868_887dup c.444-1573_444-1554dup (n.444-1573_444-1554dup) c.609_628dup (p.Thr210IlefsTer12) c.3609_3628dup (p.Thr1210IlefsTer12) c.3345_3364dup (p.Thr1122IlefsTer12) n.5386_5405dup | ClinVar dbSNP |
| 11 | g.108293354T>A | CA382534657 | ATM | c.4653T>A (p.Asp1551Glu) c.*4124T>A (n.*4124T>A) n.4803T>A n.10T>A c.4611+561T>A (n.4611+561T>A) c.4488T>A (p.Asp1496Glu) n.868T>A c.444-1573T>A (n.444-1573T>A) c.609T>A (p.Asp203Glu) c.3609T>A (p.Asp1203Glu) c.3345T>A (p.Asp1115Glu) n.5386T>A | ClinVar dbSNP gnomAD v4 |
| 11 | g.108293354T>C | CA476674384 | ATM | c.4653T>C (p.Asp1551=) c.*4124T>C (n.*4124T>C) n.4803T>C n.10T>C c.4611+561T>C (n.4611+561T>C) c.4488T>C (p.Asp1496=) n.868T>C c.444-1573T>C (n.444-1573T>C) c.609T>C (p.Asp203=) c.3609T>C (p.Asp1203=) c.3345T>C (p.Asp1115=) n.5386T>C | |
| 11 | g.108293354T>G | CA382534656 | ATM | c.4653T>G (p.Asp1551Glu) c.*4124T>G (n.*4124T>G) n.4803T>G n.10T>G c.4611+561T>G (n.4611+561T>G) c.4488T>G (p.Asp1496Glu) n.868T>G c.444-1573T>G (n.444-1573T>G) c.609T>G (p.Asp203Glu) c.3609T>G (p.Asp1203Glu) c.3345T>G (p.Asp1115Glu) n.5386T>G | |
| 11 | g.108293354T= | CA1998790129 | ATM | c.4653T= (p.Asp1551=) c.*4124T= (n.*4124T=) n.4803T= n.10T= c.4611+561T= (n.4611+561T=) c.4488T= (p.Asp1496=) n.868T= c.444-1573T= (n.444-1573T=) c.609T= (p.Asp203=) c.3609T= (p.Asp1203=) c.3345T= (p.Asp1115=) n.5386T= |