OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.121137559G>A | CA383018807 | TBCEL-TECTA,TECTA | c.3080G>A (p.Gly1027Asp) c.387G>A c.4037G>A (p.Gly1346Asp) | COSMIC |
| 11 | g.121137559G>C | CA383018812 | TBCEL-TECTA,TECTA | c.3080G>C (p.Gly1027Ala) c.387G>C c.4037G>C (p.Gly1346Ala) | |
| 11 | g.121137559G>T | CA383018810 | TBCEL-TECTA,TECTA | c.3080G>T (p.Gly1027Val) c.387G>T c.4037G>T (p.Gly1346Val) | |
| 11 | g.121137560C>A | CA477382573 | TBCEL-TECTA,TECTA | c.3081C>A (p.Gly1027=) c.388C>A c.4038C>A (p.Gly1346=) | |
| 11 | g.121137560C>G | CA477382575 | TBCEL-TECTA,TECTA | c.3081C>G (p.Gly1027=) c.388C>G c.4038C>G (p.Gly1346=) | |
| 11 | g.121137560C>T | CA477382574 | TBCEL-TECTA,TECTA | c.3081C>T (p.Gly1027=) c.388C>T c.4038C>T (p.Gly1346=) | |
| 11 | g.121137561A>C | CA383018815 | TBCEL-TECTA,TECTA | c.3082A>C (p.Ser1028Arg) c.389A>C c.4039A>C (p.Ser1347Arg) | |
| 11 | g.121137561A>G | CA383018820 | TBCEL-TECTA,TECTA | c.3082A>G (p.Ser1028Gly) c.389A>G c.4039A>G (p.Ser1347Gly) | |
| 11 | g.121137561A>T | CA383018817 | TBCEL-TECTA,TECTA | c.3082A>T (p.Ser1028Cys) c.389A>T c.4039A>T (p.Ser1347Cys) | COSMIC |
| 11 | g.121137562G>A | CA229825413 | TBCEL-TECTA,TECTA | c.3083G>A (p.Ser1028Asn) c.390G>A c.4040G>A (p.Ser1347Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.121137562G>C | CA383018823 | TBCEL-TECTA,TECTA | c.3083G>C (p.Ser1028Thr) c.390G>C c.4040G>C (p.Ser1347Thr) | |
| 11 | g.121137562G= | CA2004733750 | TBCEL-TECTA,TECTA | c.3083G= (p.Ser1028=) c.390G= c.4040G= (p.Ser1347=) | |
| 11 | g.121137562G>T | CA383018826 | TBCEL-TECTA,TECTA | c.3083G>T (p.Ser1028Ile) c.390G>T c.4040G>T (p.Ser1347Ile) | gnomAD v4 |
| 11 | g.121137563C>A | CA383018828 | TBCEL-TECTA,TECTA | c.3084C>A (p.Ser1028Arg) c.391C>A c.4041C>A (p.Ser1347Arg) | |
| 11 | g.121137563C>G | CA383018830 | TBCEL-TECTA,TECTA | c.3084C>G (p.Ser1028Arg) c.391C>G c.4041C>G (p.Ser1347Arg) | |
| 11 | g.121137563C>T | CA477382580 | TBCEL-TECTA,TECTA | c.3084C>T (p.Ser1028=) c.391C>T c.4041C>T (p.Ser1347=) | gnomAD v4 |
| 11 | g.121137564C>A | CA383018833 | TBCEL-TECTA,TECTA | c.3085C>A (p.Gln1029Lys) c.392C>A c.4042C>A (p.Gln1348Lys) | |
| 11 | g.121137564C>G | CA383018835 | TBCEL-TECTA,TECTA | c.3085C>G (p.Gln1029Glu) c.392C>G c.4042C>G (p.Gln1348Glu) | |
| 11 | g.121137564C>T | CA383018837 | TBCEL-TECTA,TECTA | c.3085C>T (p.Gln1029Ter) c.392C>T c.4042C>T (p.Gln1348Ter) | |
| 11 | g.121137565A= | CA2004733752 | TBCEL-TECTA,TECTA | c.3086A= (p.Gln1029=) c.393A= c.4043A= (p.Gln1348=) | |
| 11 | g.121137565A>C | CA383018840 | TBCEL-TECTA,TECTA | c.3086A>C (p.Gln1029Pro) c.393A>C c.4043A>C (p.Gln1348Pro) | |
| 11 | g.121137565A>G | CA383018842 | TBCEL-TECTA,TECTA | c.3086A>G (p.Gln1029Arg) c.393A>G c.4043A>G (p.Gln1348Arg) | dbSNP |
| 11 | g.121137565A>T | CA383018844 | TBCEL-TECTA,TECTA | c.3086A>T (p.Gln1029Leu) c.393A>T c.4043A>T (p.Gln1348Leu) | |
| 11 | g.121137566G>A | CA477382584 | TBCEL-TECTA,TECTA | c.3087G>A (p.Gln1029=) c.394G>A c.4044G>A (p.Gln1348=) | |
| 11 | g.121137566G>C | CA383018849 | TBCEL-TECTA,TECTA | c.3087G>C (p.Gln1029His) c.394G>C c.4044G>C (p.Gln1348His) | |
| 11 | g.121137566G>T | CA383018847 | TBCEL-TECTA,TECTA | c.3087G>T (p.Gln1029His) c.394G>T c.4044G>T (p.Gln1348His) | |
| 11 | g.121137567T>A | CA383018852 | TBCEL-TECTA,TECTA | c.3088T>A (p.Cys1030Ser) c.395T>A c.4045T>A (p.Cys1349Ser) | |
| 11 | g.121137567T>C | CA383018854 | TBCEL-TECTA,TECTA | c.3088T>C (p.Cys1030Arg) c.395T>C c.4045T>C (p.Cys1349Arg) | |
| 11 | g.121137567T>G | CA383018856 | TBCEL-TECTA,TECTA | c.3088T>G (p.Cys1030Gly) c.395T>G c.4045T>G (p.Cys1349Gly) | |
| 11 | g.121137568G>A | CA383018860 | TBCEL-TECTA,TECTA | c.3089G>A (p.Cys1030Tyr) c.396G>A c.4046G>A (p.Cys1349Tyr) | |
| 11 | g.121137568G>C | CA383018862 | TBCEL-TECTA,TECTA | c.3089G>C (p.Cys1030Ser) c.396G>C c.4046G>C (p.Cys1349Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.121137568G= | CA2004733753 | TBCEL-TECTA,TECTA | c.3089G= (p.Cys1030=) c.396G= c.4046G= (p.Cys1349=) | |
| 11 | g.121137568G>T | CA383018864 | TBCEL-TECTA,TECTA | c.3089G>T (p.Cys1030Phe) c.396G>T c.4046G>T (p.Cys1349Phe) | |
| 11 | g.121137569T>A | CA383018866 | TBCEL-TECTA,TECTA | c.3090T>A (p.Cys1030Ter) c.397T>A c.4047T>A (p.Cys1349Ter) | |
| 11 | g.121137569T>C | CA477382586 | TBCEL-TECTA,TECTA | c.3090T>C (p.Cys1030=) c.397T>C c.4047T>C (p.Cys1349=) | |
| 11 | g.121137569T>G | CA383018869 | TBCEL-TECTA,TECTA | c.3090T>G (p.Cys1030Trp) c.397T>G c.4047T>G (p.Cys1349Trp) | |
| 11 | g.121137570G>A | CA383018872 | TBCEL-TECTA,TECTA | c.3091G>A (p.Val1031Ile) c.398G>A c.4048G>A (p.Val1350Ile) | |
| 11 | g.121137570G>C | CA383018874 | TBCEL-TECTA,TECTA | c.3091G>C (p.Val1031Leu) c.398G>C c.4048G>C (p.Val1350Leu) | |
| 11 | g.121137570G>T | CA383018875 | TBCEL-TECTA,TECTA | c.3091G>T (p.Val1031Phe) c.398G>T c.4048G>T (p.Val1350Phe) | |
| 11 | g.121137571T>A | CA383018881 | TBCEL-TECTA,TECTA | c.3092T>A (p.Val1031Asp) c.399T>A c.4049T>A (p.Val1350Asp) | |
| 11 | g.121137571T>C | CA383018882 | TBCEL-TECTA,TECTA | c.3092T>C (p.Val1031Ala) c.399T>C c.4049T>C (p.Val1350Ala) | |
| 11 | g.121137571T>G | CA383018879 | TBCEL-TECTA,TECTA | c.3092T>G (p.Val1031Gly) c.399T>G c.4049T>G (p.Val1350Gly) | |
| 11 | g.121137572C>A | CA477382590 | TBCEL-TECTA,TECTA | c.3093C>A (p.Val1031=) c.400C>A c.4050C>A (p.Val1350=) | |
| 11 | g.121137572C>G | CA477382592 | TBCEL-TECTA,TECTA | c.3093C>G (p.Val1031=) c.400C>G c.4050C>G (p.Val1350=) | |
| 11 | g.121137572C>T | CA477382591 | TBCEL-TECTA,TECTA | c.3093C>T (p.Val1031=) c.400C>T c.4050C>T (p.Val1350=) | |
| 11 | g.121137573A= | CA2004733755 | TBCEL-TECTA,TECTA | c.3094A= (p.Thr1032=) c.401A= c.4051A= (p.Thr1351=) | |
| 11 | g.121137573A>C | CA383018885 | TBCEL-TECTA,TECTA | c.3094A>C (p.Thr1032Pro) c.401A>C c.4051A>C (p.Thr1351Pro) | |
| 11 | g.121137573A>G | CA383018887 | TBCEL-TECTA,TECTA | c.3094A>G (p.Thr1032Ala) c.401A>G c.4051A>G (p.Thr1351Ala) | dbSNP |
| 11 | g.121137573A>T | CA383018889 | TBCEL-TECTA,TECTA | c.3094A>T (p.Thr1032Ser) c.401A>T c.4051A>T (p.Thr1351Ser) | |
| 11 | g.121137574C>A | CA383018892 | TBCEL-TECTA,TECTA | c.3095C>A (p.Thr1032Lys) c.402C>A c.4052C>A (p.Thr1351Lys) | |
| 11 | g.121137574C= | CA2004733757 | TBCEL-TECTA,TECTA | c.3095C= (p.Thr1032=) c.402C= c.4052C= (p.Thr1351=) | |
| 11 | g.121137574C>G | CA383018895 | TBCEL-TECTA,TECTA | c.3095C>G (p.Thr1032Arg) c.402C>G c.4052C>G (p.Thr1351Arg) | |
| 11 | g.121137574C>T | CA229825419 | TBCEL-TECTA,TECTA | c.3095C>T (p.Thr1032Met) c.402C>T c.4052C>T (p.Thr1351Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 11 | g.121137575G>A | CA6327152 | TBCEL-TECTA,TECTA | c.3096G>A (p.Thr1032=) c.403G>A c.4053G>A (p.Thr1351=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.121137575G>C | CA477382593 | TBCEL-TECTA,TECTA | c.3096G>C (p.Thr1032=) c.403G>C c.4053G>C (p.Thr1351=) | |
| 11 | g.121137575G= | CA2004733759 | TBCEL-TECTA,TECTA | c.3096G= (p.Thr1032=) c.403G= c.4053G= (p.Thr1351=) | |
| 11 | g.121137575G>T | CA229825424 | TBCEL-TECTA,TECTA | c.3096G>T (p.Thr1032=) c.403G>T c.4053G>T (p.Thr1351=) | dbSNP |
| 11 | g.121137576C>A | CA477382594 | TBCEL-TECTA,TECTA | c.3097C>A (p.Arg1033=) c.404C>A c.4054C>A (p.Arg1352=) | |
| 11 | g.121137576C= | CA2004733762 | TBCEL-TECTA,TECTA | c.3097C= (p.Arg1033=) c.404C= c.4054C= (p.Arg1352=) | |
| 11 | g.121137576C>G | CA383018901 | TBCEL-TECTA,TECTA | c.3097C>G (p.Arg1033Gly) c.404C>G c.4054C>G (p.Arg1352Gly) | |
| 11 | g.121137576C>T | CA182517 | TBCEL-TECTA,TECTA | c.3097C>T (p.Arg1033Trp) c.404C>T c.4054C>T (p.Arg1352Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.121137577G>A | CA6327153 | TBCEL-TECTA,TECTA | c.3098G>A (p.Arg1033Gln) c.405G>A c.4055G>A (p.Arg1352Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.121137577G>C | CA383018904 | TBCEL-TECTA,TECTA | c.3098G>C (p.Arg1033Pro) c.405G>C c.4055G>C (p.Arg1352Pro) | |
| 11 | g.121137577G= | CA2004733765 | TBCEL-TECTA,TECTA | c.3098G= (p.Arg1033=) c.405G= c.4055G= (p.Arg1352=) | |
| 11 | g.121137577G>T | CA383018906 | TBCEL-TECTA,TECTA | c.3098G>T (p.Arg1033Leu) c.405G>T c.4055G>T (p.Arg1352Leu) | |
| 11 | g.121137578G>A | CA477382598 | TBCEL-TECTA,TECTA | c.3099G>A (p.Arg1033=) c.406G>A c.4056G>A (p.Arg1352=) | dbSNP gnomAD v4 |
| 11 | g.121137578G>C | CA477382599 | TBCEL-TECTA,TECTA | c.3099G>C (p.Arg1033=) c.406G>C c.4056G>C (p.Arg1352=) | |
| 11 | g.121137578G= | CA2004733767 | TBCEL-TECTA,TECTA | c.3099G= (p.Arg1033=) c.406G= c.4056G= (p.Arg1352=) | |
| 11 | g.121137578G>T | CA477382600 | TBCEL-TECTA,TECTA | c.3099G>T (p.Arg1033=) c.406G>T c.4056G>T (p.Arg1352=) | |
| 11 | g.121137579A= | CA2004733768 | TBCEL-TECTA,TECTA | c.3100A= (p.Ser1034=) c.407A= c.4057A= (p.Ser1353=) | |
| 11 | g.121137579A>C | CA383018913 | TBCEL-TECTA,TECTA | c.3100A>C (p.Ser1034Arg) c.407A>C c.4057A>C (p.Ser1353Arg) | gnomAD v4 |
| 11 | g.121137579A>G | CA383018911 | TBCEL-TECTA,TECTA | c.3100A>G (p.Ser1034Gly) c.407A>G c.4057A>G (p.Ser1353Gly) | |
| 11 | g.121137579A>T | CA229825452 | TBCEL-TECTA,TECTA | c.3100A>T (p.Ser1034Cys) c.407A>T c.4057A>T (p.Ser1353Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.121137580G>A | CA383018915 | TBCEL-TECTA,TECTA | c.3101G>A (p.Ser1034Asn) c.408G>A c.4058G>A (p.Ser1353Asn) | dbSNP gnomAD v2 |
| 11 | g.121137580G>C | CA383018917 | TBCEL-TECTA,TECTA | c.3101G>C (p.Ser1034Thr) c.408G>C c.4058G>C (p.Ser1353Thr) | |
| 11 | g.121137580G= | CA2004733770 | TBCEL-TECTA,TECTA | c.3101G= (p.Ser1034=) c.408G= c.4058G= (p.Ser1353=) | |
| 11 | g.121137580G>T | CA383018920 | TBCEL-TECTA,TECTA | c.3101G>T (p.Ser1034Ile) c.408G>T c.4058G>T (p.Ser1353Ile) | dbSNP |
| 11 | g.121137581T>A | CA383018923 | TBCEL-TECTA,TECTA | c.3102T>A (p.Ser1034Arg) c.409T>A c.4059T>A (p.Ser1353Arg) | |
| 11 | g.121137581T>C | CA477382602 | TBCEL-TECTA,TECTA | c.3102T>C (p.Ser1034=) c.409T>C c.4059T>C (p.Ser1353=) | |
| 11 | g.121137581T>G | CA383018924 | TBCEL-TECTA,TECTA | c.3102T>G (p.Ser1034Arg) c.409T>G c.4059T>G (p.Ser1353Arg) | |
| 11 | g.121137582G>A | CA6327154 | TBCEL-TECTA,TECTA | c.3103G>A (p.Glu1035Lys) c.410G>A c.4060G>A (p.Glu1354Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.121137582G>C | CA383018927 | TBCEL-TECTA,TECTA | c.3103G>C (p.Glu1035Gln) c.410G>C c.4060G>C (p.Glu1354Gln) | |
| 11 | g.121137582G= | CA2004733772 | TBCEL-TECTA,TECTA | c.3103G= (p.Glu1035=) c.410G= c.4060G= (p.Glu1354=) | |
| 11 | g.121137582G>T | CA383018929 | TBCEL-TECTA,TECTA | c.3103G>T (p.Glu1035Ter) c.410G>T c.4060G>T (p.Glu1354Ter) | |
| 11 | g.121137583A= | CA2004733775 | TBCEL-TECTA,TECTA | c.3104A= (p.Glu1035=) c.411A= c.4061A= (p.Glu1354=) | |
| 11 | g.121137583A>C | CA383018933 | TBCEL-TECTA,TECTA | c.3104A>C (p.Glu1035Ala) c.411A>C c.4061A>C (p.Glu1354Ala) | |
| 11 | g.121137583A>G | CA383018935 | TBCEL-TECTA,TECTA | c.3104A>G (p.Glu1035Gly) c.411A>G c.4061A>G (p.Glu1354Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.121137583A>T | CA383018937 | TBCEL-TECTA,TECTA | c.3104A>T (p.Glu1035Val) c.411A>T c.4061A>T (p.Glu1354Val) | |
| 11 | g.121137584G>A | CA477382604 | TBCEL-TECTA,TECTA | c.3105G>A (p.Glu1035=) c.412G>A c.4062G>A (p.Glu1354=) | dbSNP gnomAD v4 |
| 11 | g.121137584G>C | CA383018940 | TBCEL-TECTA,TECTA | c.3105G>C (p.Glu1035Asp) c.412G>C c.4062G>C (p.Glu1354Asp) | |
| 11 | g.121137584G= | CA2004733777 | TBCEL-TECTA,TECTA | c.3105G= (p.Glu1035=) c.412G= c.4062G= (p.Glu1354=) | |
| 11 | g.121137584G>T | CA383018942 | TBCEL-TECTA,TECTA | c.3105G>T (p.Glu1035Asp) c.412G>T c.4062G>T (p.Glu1354Asp) | |
| 11 | g.121137585T>A | CA383018948 | TBCEL-TECTA,TECTA | c.3106T>A (p.Cys1036Ser) c.413T>A c.4063T>A (p.Cys1355Ser) | |
| 11 | g.121137585T>C | CA383018946 | TBCEL-TECTA,TECTA | c.3106T>C (p.Cys1036Arg) c.413T>C c.4063T>C (p.Cys1355Arg) | |
| 11 | g.121137585T>G | CA383018945 | TBCEL-TECTA,TECTA | c.3106T>G (p.Cys1036Gly) c.413T>G c.4063T>G (p.Cys1355Gly) | |
| 11 | g.121137586G>A | CA6327156 | TBCEL-TECTA,TECTA | c.3107G>A (p.Cys1036Tyr) c.414G>A c.4064G>A (p.Cys1355Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.121137586G>C | CA383018951 | TBCEL-TECTA,TECTA | c.3107G>C (p.Cys1036Ser) c.414G>C c.4064G>C (p.Cys1355Ser) | |
| 11 | g.121137586G= | CA2004733780 | TBCEL-TECTA,TECTA | c.3107G= (p.Cys1036=) c.414G= c.4064G= (p.Cys1355=) | |
| 11 | g.121137586G>T | CA6327155 | TBCEL-TECTA,TECTA | c.3107G>T (p.Cys1036Phe) c.414G>T c.4064G>T (p.Cys1355Phe) | dbSNP ExAC |
| 11 | g.121137587T>A | CA383018957 | TBCEL-TECTA,TECTA | c.3108T>A (p.Cys1036Ter) c.415T>A c.4065T>A (p.Cys1355Ter) | |
| 11 | g.121137587T>C | CA477382605 | TBCEL-TECTA,TECTA | c.3108T>C (p.Cys1036=) c.415T>C c.4065T>C (p.Cys1355=) | |
| 11 | g.121137587T>G | CA383018959 | TBCEL-TECTA,TECTA | c.3108T>G (p.Cys1036Trp) c.415T>G c.4065T>G (p.Cys1355Trp) | |
| 11 | g.121137588G>A | CA383018962 | TBCEL-TECTA,TECTA | c.3109G>A (p.Gly1037Ser) c.416G>A c.4066G>A (p.Gly1356Ser) | |
| 11 | g.121137588G>C | CA383018965 | TBCEL-TECTA,TECTA | c.3109G>C (p.Gly1037Arg) c.416G>C c.4066G>C (p.Gly1356Arg) | |
| 11 | g.121137588G>T | CA383018967 | TBCEL-TECTA,TECTA | c.3109G>T (p.Gly1037Cys) c.416G>T c.4066G>T (p.Gly1356Cys) | gnomAD v4 |
| 11 | g.121137589G>A | CA383018968 | TBCEL-TECTA,TECTA | c.3110G>A (p.Gly1037Asp) c.417G>A c.4067G>A (p.Gly1356Asp) | |
| 11 | g.121137589G>C | CA383018969 | TBCEL-TECTA,TECTA | c.3110G>C (p.Gly1037Ala) c.417G>C c.4067G>C (p.Gly1356Ala) | |
| 11 | g.121137589G>T | CA383018970 | TBCEL-TECTA,TECTA | c.3110G>T (p.Gly1037Val) c.417G>T c.4067G>T (p.Gly1356Val) | gnomAD v4 |
| 11 | g.121137590C>A | CA477382608 | TBCEL-TECTA,TECTA | c.3111C>A (p.Gly1037=) c.418C>A c.4068C>A (p.Gly1356=) | |
| 11 | g.121137590C>G | CA477382609 | TBCEL-TECTA,TECTA | c.3111C>G (p.Gly1037=) c.418C>G c.4068C>G (p.Gly1356=) | gnomAD v4 |
| 11 | g.121137590C>T | CA477382610 | TBCEL-TECTA,TECTA | c.3111C>T (p.Gly1037=) c.418C>T c.4068C>T (p.Gly1356=) | |
| 11 | g.121137591T>A | CA383018971 | TBCEL-TECTA,TECTA | c.3112T>A (p.Cys1038Ser) c.419T>A c.4069T>A (p.Cys1357Ser) | |
| 11 | g.121137591T>C | CA383018972 | TBCEL-TECTA,TECTA | c.3112T>C (p.Cys1038Arg) c.419T>C c.4069T>C (p.Cys1357Arg) | |
| 11 | g.121137591T>G | CA383018973 | TBCEL-TECTA,TECTA | c.3112T>G (p.Cys1038Gly) c.419T>G c.4069T>G (p.Cys1357Gly) | |
| 11 | g.121137592G>A | CA383018976 | TBCEL-TECTA,TECTA | c.3113G>A (p.Cys1038Tyr) c.420G>A c.4070G>A (p.Cys1357Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.121137592G>C | CA383018975 | TBCEL-TECTA,TECTA | c.3113G>C (p.Cys1038Ser) c.420G>C c.4070G>C (p.Cys1357Ser) | |
| 11 | g.121137592G= | CA2004733783 | TBCEL-TECTA,TECTA | c.3113G= (p.Cys1038=) c.420G= c.4070G= (p.Cys1357=) | |
| 11 | g.121137592G>T | CA383018974 | TBCEL-TECTA,TECTA | c.3113G>T (p.Cys1038Phe) c.420G>T c.4070G>T (p.Cys1357Phe) | |
| 11 | g.121137593C>A | CA383018977 | TBCEL-TECTA,TECTA | c.3114C>A (p.Cys1038Ter) c.421C>A c.4071C>A (p.Cys1357Ter) | |
| 11 | g.121137593C= | CA2004733786 | TBCEL-TECTA,TECTA | c.3114C= (p.Cys1038=) c.421C= c.4071C= (p.Cys1357=) | |
| 11 | g.121137593C>G | CA383018978 | TBCEL-TECTA,TECTA | c.3114C>G (p.Cys1038Trp) c.421C>G c.4071C>G (p.Cys1357Trp) | |
| 11 | g.121137593C>T | CA6327157 | TBCEL-TECTA,TECTA | c.3114C>T (p.Cys1038=) c.421C>T c.4071C>T (p.Cys1357=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.121137594A>C | CA383018979 | TBCEL-TECTA,TECTA | c.3115A>C (p.Asn1039His) c.422A>C c.4072A>C (p.Asn1358His) | |
| 11 | g.121137594A>G | CA383018980 | TBCEL-TECTA,TECTA | c.3115A>G (p.Asn1039Asp) c.422A>G c.4072A>G (p.Asn1358Asp) | |
| 11 | g.121137594A>T | CA383018981 | TBCEL-TECTA,TECTA | c.3115A>T (p.Asn1039Tyr) c.422A>T c.4072A>T (p.Asn1358Tyr) | |
| 11 | g.121137595A= | CA2004733788 | TBCEL-TECTA,TECTA | c.3116A= (p.Asn1039=) c.423A= c.4073A= (p.Asn1358=) | |
| 11 | g.121137595A>C | CA383018982 | TBCEL-TECTA,TECTA | c.3116A>C (p.Asn1039Thr) c.423A>C c.4073A>C (p.Asn1358Thr) | |
| 11 | g.121137595A>G | CA229825508 | TBCEL-TECTA,TECTA | c.3116A>G (p.Asn1039Ser) c.423A>G c.4073A>G (p.Asn1358Ser) | dbSNP |
| 11 | g.121137595A>T | CA383018983 | TBCEL-TECTA,TECTA | c.3116A>T (p.Asn1039Ile) c.423A>T c.4073A>T (p.Asn1358Ile) | gnomAD v4 |
| 11 | g.121137596C>A | CA383018984 | TBCEL-TECTA,TECTA | c.3117C>A (p.Asn1039Lys) c.424C>A c.4074C>A (p.Asn1358Lys) | |
| 11 | g.121137596C>G | CA383018985 | TBCEL-TECTA,TECTA | c.3117C>G (p.Asn1039Lys) c.424C>G c.4074C>G (p.Asn1358Lys) | gnomAD v4 |
| 11 | g.121137596C>T | CA477382622 | TBCEL-TECTA,TECTA | c.3117C>T (p.Asn1039=) c.424C>T c.4074C>T (p.Asn1358=) | |
| 11 | g.121137597T>A | CA383018986 | TBCEL-TECTA,TECTA | c.3118T>A (p.Phe1040Ile) c.425T>A c.4075T>A (p.Phe1359Ile) | |
| 11 | g.121137597T>C | CA383018987 | TBCEL-TECTA,TECTA | c.3118T>C (p.Phe1040Leu) c.425T>C c.4075T>C (p.Phe1359Leu) | |
| 11 | g.121137597T>G | CA383018988 | TBCEL-TECTA,TECTA | c.3118T>G (p.Phe1040Val) c.425T>G c.4075T>G (p.Phe1359Val) | |
| 11 | g.121137598T>A | CA383018990 | TBCEL-TECTA,TECTA | c.3119T>A (p.Phe1040Tyr) c.426T>A c.4076T>A (p.Phe1359Tyr) | |
| 11 | g.121137598T>C | CA383018991 | TBCEL-TECTA,TECTA | c.3119T>C (p.Phe1040Ser) c.426T>C c.4076T>C (p.Phe1359Ser) | |
| 11 | g.121137598T>G | CA383018989 | TBCEL-TECTA,TECTA | c.3119T>G (p.Phe1040Cys) c.426T>G c.4076T>G (p.Phe1359Cys) | |
| 11 | g.121137599T>A | CA383018992 | TBCEL-TECTA,TECTA | c.3120T>A (p.Phe1040Leu) c.427T>A c.4077T>A (p.Phe1359Leu) | |
| 11 | g.121137599T>C | CA477382626 | TBCEL-TECTA,TECTA | c.3120T>C (p.Phe1040=) c.427T>C c.4077T>C (p.Phe1359=) | |
| 11 | g.121137599T>G | CA383018993 | TBCEL-TECTA,TECTA | c.3120T>G (p.Phe1040Leu) c.427T>G c.4077T>G (p.Phe1359Leu) | dbSNP |
| 11 | g.121137599T= | CA2004733790 | TBCEL-TECTA,TECTA | c.3120T= (p.Phe1040=) c.427T= c.4077T= (p.Phe1359=) | |
| 11 | g.121137600G>A | CA383018994 | TBCEL-TECTA,TECTA | c.3121G>A (p.Glu1041Lys) c.428G>A c.4078G>A (p.Glu1360Lys) | |
| 11 | g.121137600G>C | CA383018995 | TBCEL-TECTA,TECTA | c.3121G>C (p.Glu1041Gln) c.428G>C c.4078G>C (p.Glu1360Gln) | gnomAD v4 |
| 11 | g.121137600G= | CA2004733791 | TBCEL-TECTA,TECTA | c.3121G= (p.Glu1041=) c.428G= c.4078G= (p.Glu1360=) | |
| 11 | g.121137600G>T | CA229825518 | TBCEL-TECTA,TECTA | c.3121G>T (p.Glu1041Ter) c.428G>T c.4078G>T (p.Glu1360Ter) | dbSNP |
| 11 | g.121137601A>C | CA383018996 | TBCEL-TECTA,TECTA | c.3122A>C (p.Glu1041Ala) c.429A>C c.4079A>C (p.Glu1360Ala) | |
| 11 | g.121137601A>G | CA383018997 | TBCEL-TECTA,TECTA | c.3122A>G (p.Glu1041Gly) c.429A>G c.4079A>G (p.Glu1360Gly) | gnomAD v4 |
| 11 | g.121137601A>T | CA383018998 | TBCEL-TECTA,TECTA | c.3122A>T (p.Glu1041Val) c.429A>T c.4079A>T (p.Glu1360Val) | |
| 11 | g.121137602G>A | CA477382635 | TBCEL-TECTA,TECTA | c.3123G>A (p.Glu1041=) c.430G>A c.4080G>A (p.Glu1360=) | dbSNP |
| 11 | g.121137602G>C | CA6327158 | TBCEL-TECTA,TECTA | c.3123G>C (p.Glu1041Asp) c.430G>C c.4080G>C (p.Glu1360Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.121137602G= | CA2004733793 | TBCEL-TECTA,TECTA | c.3123G= (p.Glu1041=) c.430G= c.4080G= (p.Glu1360=) | |
| 11 | g.121137602G>T | CA383018999 | TBCEL-TECTA,TECTA | c.3123G>T (p.Glu1041Asp) c.430G>T c.4080G>T (p.Glu1360Asp) | |
| 11 | g.121137605del | CA2575008417 | TBCEL-TECTA,TECTA | c.3126del (p.His1043ThrfsTer?) c.433del c.4083del (p.His1362ThrfsTer?) | |
| 11 | g.121137603G>A | CA383019000 | TBCEL-TECTA,TECTA | c.3124G>A (p.Gly1042Arg) c.431G>A c.4081G>A (p.Gly1361Arg) | |
| 11 | g.121137603G>C | CA383019001 | TBCEL-TECTA,TECTA | c.3124G>C (p.Gly1042Arg) c.431G>C c.4081G>C (p.Gly1361Arg) | |
| 11 | g.121137603G>T | CA383019002 | TBCEL-TECTA,TECTA | c.3124G>T (p.Gly1042Trp) c.431G>T c.4081G>T (p.Gly1361Trp) | |
| 11 | g.121137604G>A | CA383019003 | TBCEL-TECTA,TECTA | c.3125G>A (p.Gly1042Glu) c.432G>A c.4082G>A (p.Gly1361Glu) | |
| 11 | g.121137604G>C | CA383019005 | TBCEL-TECTA,TECTA | c.3125G>C (p.Gly1042Ala) c.432G>C c.4082G>C (p.Gly1361Ala) | |
| 11 | g.121137604G>T | CA383019004 | TBCEL-TECTA,TECTA | c.3125G>T (p.Gly1042Val) c.432G>T c.4082G>T (p.Gly1361Val) | |
| 11 | g.121137605G>A | CA229825528 | TBCEL-TECTA,TECTA | c.3126G>A (p.Gly1042=) c.433G>A c.4083G>A (p.Gly1361=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.121137605G>C | CA477382643 | TBCEL-TECTA,TECTA | c.3126G>C (p.Gly1042=) c.433G>C c.4083G>C (p.Gly1361=) | |
| 11 | g.121137605G= | CA2004733795 | TBCEL-TECTA,TECTA | c.3126G= (p.Gly1042=) c.433G= c.4083G= (p.Gly1361=) | |
| 11 | g.121137605G>T | CA477382641 | TBCEL-TECTA,TECTA | c.3126G>T (p.Gly1042=) c.433G>T c.4083G>T (p.Gly1361=) | |
| 11 | g.121137606C>A | CA383019006 | TBCEL-TECTA,TECTA | c.3127C>A (p.His1043Asn) c.434C>A c.4084C>A (p.His1362Asn) | |
| 11 | g.121137606C>G | CA383019007 | TBCEL-TECTA,TECTA | c.3127C>G (p.His1043Asp) c.434C>G c.4084C>G (p.His1362Asp) | |
| 11 | g.121137606C>T | CA383019008 | TBCEL-TECTA,TECTA | c.3127C>T (p.His1043Tyr) c.434C>T c.4084C>T (p.His1362Tyr) | gnomAD v4 |
| 11 | g.121137607A= | CA2004733799 | TBCEL-TECTA,TECTA | c.3128A= (p.His1043=) c.435A= c.4085A= (p.His1362=) | |
| 11 | g.121137607A>C | CA383019009 | TBCEL-TECTA,TECTA | c.3128A>C (p.His1043Pro) c.435A>C c.4085A>C (p.His1362Pro) | ClinVar dbSNP gnomAD v4 |
| 11 | g.121137607A>G | CA383019010 | TBCEL-TECTA,TECTA | c.3128A>G (p.His1043Arg) c.435A>G c.4085A>G (p.His1362Arg) | gnomAD v4 |
| 11 | g.121137607A>T | CA383019011 | TBCEL-TECTA,TECTA | c.3128A>T (p.His1043Leu) c.435A>T c.4085A>T (p.His1362Leu) | |
| 11 | g.121137608C>A | CA383019012 | TBCEL-TECTA,TECTA | c.3129C>A (p.His1043Gln) c.436C>A c.4086C>A (p.His1362Gln) | |
| 11 | g.121137608C>G | CA383019013 | TBCEL-TECTA,TECTA | c.3129C>G (p.His1043Gln) c.436C>G c.4086C>G (p.His1362Gln) | |
| 11 | g.121137608C>T | CA477382646 | TBCEL-TECTA,TECTA | c.3129C>T (p.His1043=) c.436C>T c.4086C>T (p.His1362=) | |
| 11 | g.121137609C>A | CA383019014 | TBCEL-TECTA,TECTA | c.3130C>A (p.Gln1044Lys) c.437C>A c.4087C>A (p.Gln1363Lys) | gnomAD v4 |
| 11 | g.121137609C= | CA2004733802 | TBCEL-TECTA,TECTA | c.3130C= (p.Gln1044=) c.437C= c.4087C= (p.Gln1363=) | |
| 11 | g.121137609C>G | CA6327159 | TBCEL-TECTA,TECTA | c.3130C>G (p.Gln1044Glu) c.437C>G c.4087C>G (p.Gln1363Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.121137609C>T | CA383019015 | TBCEL-TECTA,TECTA | c.3130C>T (p.Gln1044Ter) c.437C>T c.4087C>T (p.Gln1363Ter) | |
| 11 | g.121137610A>C | CA383019017 | TBCEL-TECTA,TECTA | c.3131A>C (p.Gln1044Pro) c.438A>C c.4088A>C (p.Gln1363Pro) | |
| 11 | g.121137610A>G | CA383019018 | TBCEL-TECTA,TECTA | c.3131A>G (p.Gln1044Arg) c.438A>G c.4088A>G (p.Gln1363Arg) | gnomAD v4 |
| 11 | g.121137610A>T | CA383019016 | TBCEL-TECTA,TECTA | c.3131A>T (p.Gln1044Leu) c.438A>T c.4088A>T (p.Gln1363Leu) | |
| 11 | g.121137611A= | CA2004733804 | TBCEL-TECTA,TECTA | c.3132A= (p.Gln1044=) c.439A= c.4089A= (p.Gln1363=) | |
| 11 | g.121137611A>C | CA10630121 | TBCEL-TECTA,TECTA | c.3132A>C (p.Gln1044His) c.439A>C c.4089A>C (p.Gln1363His) | ClinVar dbSNP |
| 11 | g.121137611A>G | CA477382651 | TBCEL-TECTA,TECTA | c.3132A>G (p.Gln1044=) c.439A>G c.4089A>G (p.Gln1363=) | gnomAD v4 |
| 11 | g.121137611A>T | CA383019019 | TBCEL-TECTA,TECTA | c.3132A>T (p.Gln1044His) c.439A>T c.4089A>T (p.Gln1363His) | |
| 11 | g.121137612C>A | CA383019020 | TBCEL-TECTA,TECTA | c.3133C>A (p.Leu1045Ile) c.440C>A c.4090C>A (p.Leu1364Ile) | |
| 11 | g.121137612C>G | CA383019021 | TBCEL-TECTA,TECTA | c.3133C>G (p.Leu1045Val) c.440C>G c.4090C>G (p.Leu1364Val) | |
| 11 | g.121137612C>T | CA383019022 | TBCEL-TECTA,TECTA | c.3133C>T (p.Leu1045Phe) c.440C>T c.4090C>T (p.Leu1364Phe) | |
| 11 | g.121137613T>A | CA383019023 | TBCEL-TECTA,TECTA | c.3134T>A (p.Leu1045His) c.441T>A c.4091T>A (p.Leu1364His) | COSMIC |
| 11 | g.121137613T>C | CA383019024 | TBCEL-TECTA,TECTA | c.3134T>C (p.Leu1045Pro) c.441T>C c.4091T>C (p.Leu1364Pro) | |
| 11 | g.121137613T>G | CA383019025 | TBCEL-TECTA,TECTA | c.3134T>G (p.Leu1045Arg) c.441T>G c.4091T>G (p.Leu1364Arg) | COSMIC |
| 11 | g.121137614T>A | CA477382656 | TBCEL-TECTA,TECTA | c.3135T>A (p.Leu1045=) c.442T>A c.4092T>A (p.Leu1364=) | |
| 11 | g.121137614T>C | CA477382661 | TBCEL-TECTA,TECTA | c.3135T>C (p.Leu1045=) c.442T>C c.4092T>C (p.Leu1364=) | |
| 11 | g.121137614T>G | CA477382658 | TBCEL-TECTA,TECTA | c.3135T>G (p.Leu1045=) c.442T>G c.4092T>G (p.Leu1364=) | |
| 11 | g.121137615G>A | CA383019026 | TBCEL-TECTA,TECTA | c.3136G>A (p.Ala1046Thr) c.443G>A c.4093G>A (p.Ala1365Thr) | |
| 11 | g.121137615G>C | CA383019027 | TBCEL-TECTA,TECTA | c.3136G>C (p.Ala1046Pro) c.443G>C c.4093G>C (p.Ala1365Pro) | |
| 11 | g.121137615G>T | CA383019028 | TBCEL-TECTA,TECTA | c.3136G>T (p.Ala1046Ser) c.443G>T c.4093G>T (p.Ala1365Ser) | |
| 11 | g.121137616C>A | CA383019029 | TBCEL-TECTA,TECTA | c.3137C>A (p.Ala1046Asp) c.444C>A c.4094C>A (p.Ala1365Asp) | COSMIC |
| 11 | g.121137616C>G | CA383019030 | TBCEL-TECTA,TECTA | c.3137C>G (p.Ala1046Gly) c.444C>G c.4094C>G (p.Ala1365Gly) | |
| 11 | g.121137616C>T | CA383019031 | TBCEL-TECTA,TECTA | c.3137C>T (p.Ala1046Val) c.444C>T c.4094C>T (p.Ala1365Val) | |
| 11 | g.121137617C>A | CA477382666 | TBCEL-TECTA,TECTA | c.3138C>A (p.Ala1046=) c.445C>A c.4095C>A (p.Ala1365=) | |
| 11 | g.121137617C= | CA2004733806 | TBCEL-TECTA,TECTA | c.3138C= (p.Ala1046=) c.445C= c.4095C= (p.Ala1365=) | |
| 11 | g.121137617C>G | CA477382667 | TBCEL-TECTA,TECTA | c.3138C>G (p.Ala1046=) c.445C>G c.4095C>G (p.Ala1365=) | |
| 11 | g.121137617C>T | CA10633811 | TBCEL-TECTA,TECTA | c.3138C>T (p.Ala1046=) c.445C>T c.4095C>T (p.Ala1365=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.121137618A>C | CA383019032 | TBCEL-TECTA,TECTA | c.3139A>C (p.Thr1047Pro) c.446A>C c.4096A>C (p.Thr1366Pro) | |
| 11 | g.121137618A>G | CA383019034 | TBCEL-TECTA,TECTA | c.3139A>G (p.Thr1047Ala) c.446A>G c.4096A>G (p.Thr1366Ala) | |
| 11 | g.121137618A>T | CA383019033 | TBCEL-TECTA,TECTA | c.3139A>T (p.Thr1047Ser) c.446A>T c.4096A>T (p.Thr1366Ser) | |
| 11 | g.121137621_121137629del | CA2793886326 | TBCEL-TECTA,TECTA | c.3142_3150del (p.Asn1048_Thr1050del) c.449_457del c.4099_4107del (p.Asn1367_Thr1369del) | |
| 11 | g.121137619C>A | CA383019035 | TBCEL-TECTA,TECTA | c.3140C>A (p.Thr1047Asn) c.447C>A c.4097C>A (p.Thr1366Asn) | gnomAD v4 |
| 11 | g.121137619C= | CA2004733808 | TBCEL-TECTA,TECTA | c.3140C= (p.Thr1047=) c.447C= c.4097C= (p.Thr1366=) | |
| 11 | g.121137619C>G | CA383019036 | TBCEL-TECTA,TECTA | c.3140C>G (p.Thr1047Ser) c.447C>G c.4097C>G (p.Thr1366Ser) | dbSNP |
| 11 | g.121137619C>T | CA383019037 | TBCEL-TECTA,TECTA | c.3140C>T (p.Thr1047Ile) c.447C>T c.4097C>T (p.Thr1366Ile) | |
| 11 | g.121137620C>A | CA229825543 | TBCEL-TECTA,TECTA | c.3141C>A (p.Thr1047=) c.448C>A c.4098C>A (p.Thr1366=) | dbSNP gnomAD v4 |
| 11 | g.121137620C= | CA2004733810 | TBCEL-TECTA,TECTA | c.3141C= (p.Thr1047=) c.448C= c.4098C= (p.Thr1366=) | |
| 11 | g.121137620C>G | CA477382672 | TBCEL-TECTA,TECTA | c.3141C>G (p.Thr1047=) c.448C>G c.4098C>G (p.Thr1366=) | |
| 11 | g.121137620C>T | CA477382674 | TBCEL-TECTA,TECTA | c.3141C>T (p.Thr1047=) c.448C>T c.4098C>T (p.Thr1366=) | gnomAD v4 |
| 11 | g.121137621A>C | CA383019038 | TBCEL-TECTA,TECTA | c.3142A>C (p.Asn1048His) c.449A>C c.4099A>C (p.Asn1367His) | |
| 11 | g.121137621A>G | CA383019039 | TBCEL-TECTA,TECTA | c.3142A>G (p.Asn1048Asp) c.449A>G c.4099A>G (p.Asn1367Asp) | |
| 11 | g.121137621A>T | CA383019040 | TBCEL-TECTA,TECTA | c.3142A>T (p.Asn1048Tyr) c.449A>T c.4099A>T (p.Asn1367Tyr) | |
| 11 | g.121137622A= | CA2004733812 | TBCEL-TECTA,TECTA | c.3143A= (p.Asn1048=) c.450A= c.4100A= (p.Asn1367=) | |
| 11 | g.121137622A>C | CA383019041 | TBCEL-TECTA,TECTA | c.3143A>C (p.Asn1048Thr) c.450A>C c.4100A>C (p.Asn1367Thr) | |
| 11 | g.121137622A>G | CA6327160 | TBCEL-TECTA,TECTA | c.3143A>G (p.Asn1048Ser) c.450A>G c.4100A>G (p.Asn1367Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.121137622A>T | CA383019042 | TBCEL-TECTA,TECTA | c.3143A>T (p.Asn1048Ile) c.450A>T c.4100A>T (p.Asn1367Ile) | |
| 11 | g.121137623T>A | CA383019043 | TBCEL-TECTA,TECTA | c.3144T>A (p.Asn1048Lys) c.451T>A c.4101T>A (p.Asn1367Lys) | |
| 11 | g.121137623T>C | CA477382677 | TBCEL-TECTA,TECTA | c.3144T>C (p.Asn1048=) c.451T>C c.4101T>C (p.Asn1367=) | |
| 11 | g.121137623T>G | CA383019044 | TBCEL-TECTA,TECTA | c.3144T>G (p.Asn1048Lys) c.451T>G c.4101T>G (p.Asn1367Lys) | gnomAD v3 gnomAD v4 |
| 11 | g.121137624G>A | CA383019047 | TBCEL-TECTA,TECTA | c.3145G>A (p.Glu1049Lys) c.452G>A c.4102G>A (p.Glu1368Lys) | |
| 11 | g.121137624G>C | CA383019046 | TBCEL-TECTA,TECTA | c.3145G>C (p.Glu1049Gln) c.452G>C c.4102G>C (p.Glu1368Gln) | |
| 11 | g.121137624G>T | CA383019045 | TBCEL-TECTA,TECTA | c.3145G>T (p.Glu1049Ter) c.452G>T c.4102G>T (p.Glu1368Ter) | |
| 11 | g.121137625A= | CA2004733813 | TBCEL-TECTA,TECTA | c.3146A= (p.Glu1049=) c.453A= c.4103A= (p.Glu1368=) | |
| 11 | g.121137625A>C | CA383019050 | TBCEL-TECTA,TECTA | c.3146A>C (p.Glu1049Ala) c.453A>C c.4103A>C (p.Glu1368Ala) | |
| 11 | g.121137625A>G | CA383019048 | TBCEL-TECTA,TECTA | c.3146A>G (p.Glu1049Gly) c.453A>G c.4103A>G (p.Glu1368Gly) | dbSNP |
| 11 | g.121137625A>T | CA383019049 | TBCEL-TECTA,TECTA | c.3146A>T (p.Glu1049Val) c.453A>T c.4103A>T (p.Glu1368Val) | |
| 11 | g.121137626G>A | CA477382683 | TBCEL-TECTA,TECTA | c.3147G>A (p.Glu1049=) c.454G>A c.4104G>A (p.Glu1368=) | |
| 11 | g.121137626G>C | CA383019051 | TBCEL-TECTA,TECTA | c.3147G>C (p.Glu1049Asp) c.454G>C c.4104G>C (p.Glu1368Asp) | |
| 11 | g.121137626G>T | CA383019052 | TBCEL-TECTA,TECTA | c.3147G>T (p.Glu1049Asp) c.454G>T c.4104G>T (p.Glu1368Asp) | |
| 11 | g.121137627A>C | CA383019053 | TBCEL-TECTA,TECTA | c.3148A>C (p.Thr1050Pro) c.455A>C c.4105A>C (p.Thr1369Pro) | |
| 11 | g.121137627A>G | CA383019054 | TBCEL-TECTA,TECTA | c.3148A>G (p.Thr1050Ala) c.455A>G c.4105A>G (p.Thr1369Ala) | |
| 11 | g.121137627A>T | CA383019055 | TBCEL-TECTA,TECTA | c.3148A>T (p.Thr1050Ser) c.455A>T c.4105A>T (p.Thr1369Ser) | |
| 11 | g.121137628C>A | CA383019056 | TBCEL-TECTA,TECTA | c.3149C>A (p.Thr1050Asn) c.456C>A c.4106C>A (p.Thr1369Asn) | dbSNP |
| 11 | g.121137628C= | CA2004733816 | TBCEL-TECTA,TECTA | c.3149C= (p.Thr1050=) c.456C= c.4106C= (p.Thr1369=) | |
| 11 | g.121137628C>G | CA383019058 | TBCEL-TECTA,TECTA | c.3149C>G (p.Thr1050Ser) c.456C>G c.4106C>G (p.Thr1369Ser) | |
| 11 | g.121137628C>T | CA383019057 | TBCEL-TECTA,TECTA | c.3149C>T (p.Thr1050Ile) c.456C>T c.4106C>T (p.Thr1369Ile) | gnomAD v4 |
| 11 | g.121137628_121137631delinsCCTT | CA2004733815 | TBCEL-TECTA,TECTA | c.3149_3152delinsCCTT (p.Thr1050=) c.456_459delinsCCTT c.4106_4109delinsCCTT (p.Thr1369=) | |
| 11 | g.121137629C>A | CA6327161 | TBCEL-TECTA,TECTA | c.3150C>A (p.Thr1050=) c.457C>A c.4107C>A (p.Thr1369=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.121137629C= | CA2004733819 | TBCEL-TECTA,TECTA | c.3150C= (p.Thr1050=) c.457C= c.4107C= (p.Thr1369=) | |
| 11 | g.121137629C>G | CA477382690 | TBCEL-TECTA,TECTA | c.3150C>G (p.Thr1050=) c.457C>G c.4107C>G (p.Thr1369=) | |
| 11 | g.121137629C>T | CA477382689 | TBCEL-TECTA,TECTA | c.3150C>T (p.Thr1050=) c.457C>T c.4107C>T (p.Thr1369=) | dbSNP gnomAD v4 |
| 11 | g.121137631_121137633del | CA602580272 | TBCEL-TECTA,TECTA | c.3152_3154del (p.Phe1051del) c.459_461del c.4109_4111del (p.Phe1370del) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.121137630T>A | CA383019059 | TBCEL-TECTA,TECTA | c.3151T>A (p.Phe1051Ile) c.458T>A c.4108T>A (p.Phe1370Ile) | |
| 11 | g.121137630T>C | CA383019060 | TBCEL-TECTA,TECTA | c.3151T>C (p.Phe1051Leu) c.458T>C c.4108T>C (p.Phe1370Leu) | gnomAD v4 |
| 11 | g.121137630T>G | CA383019061 | TBCEL-TECTA,TECTA | c.3151T>G (p.Phe1051Val) c.458T>G c.4108T>G (p.Phe1370Val) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.121137630T= | CA2004733821 | TBCEL-TECTA,TECTA | c.3151T= (p.Phe1051=) c.458T= c.4108T= (p.Phe1370=) | |
| 11 | g.121137631T>A | CA383019062 | TBCEL-TECTA,TECTA | c.3152T>A (p.Phe1051Tyr) c.459T>A c.4109T>A (p.Phe1370Tyr) | |
| 11 | g.121137631T>C | CA383019064 | TBCEL-TECTA,TECTA | c.3152T>C (p.Phe1051Ser) c.459T>C c.4109T>C (p.Phe1370Ser) | |
| 11 | g.121137631T>G | CA383019063 | TBCEL-TECTA,TECTA | c.3152T>G (p.Phe1051Cys) c.459T>G c.4109T>G (p.Phe1370Cys) | |
| 11 | g.121137632C>A | CA383019065 | TBCEL-TECTA,TECTA | c.3153C>A (p.Phe1051Leu) c.460C>A c.4110C>A (p.Phe1370Leu) | |
| 11 | g.121137632C>G | CA383019066 | TBCEL-TECTA,TECTA | c.3153C>G (p.Phe1051Leu) c.460C>G c.4110C>G (p.Phe1370Leu) | |
| 11 | g.121137632C>T | CA477382700 | TBCEL-TECTA,TECTA | c.3153C>T (p.Phe1051=) c.460C>T c.4110C>T (p.Phe1370=) | |
| 11 | g.121137633T>A | CA383019067 | TBCEL-TECTA,TECTA | c.3154T>A (p.Trp1052Arg) c.461T>A c.4111T>A (p.Trp1371Arg) | |
| 11 | g.121137633T>C | CA383019068 | TBCEL-TECTA,TECTA | c.3154T>C (p.Trp1052Arg) c.461T>C c.4111T>C (p.Trp1371Arg) | |
| 11 | g.121137633T>G | CA6327162 | TBCEL-TECTA,TECTA | c.3154T>G (p.Trp1052Gly) c.461T>G c.4111T>G (p.Trp1371Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.121137633T= | CA2004733823 | TBCEL-TECTA,TECTA | c.3154T= (p.Trp1052=) c.461T= c.4111T= (p.Trp1371=) | |
| 11 | g.121137634G>A | CA383019069 | TBCEL-TECTA,TECTA | c.3155G>A (p.Trp1052Ter) c.462G>A c.4112G>A (p.Trp1371Ter) | |
| 11 | g.121137634G>C | CA383019070 | TBCEL-TECTA,TECTA | c.3155G>C (p.Trp1052Ser) c.462G>C c.4112G>C (p.Trp1371Ser) | |
| 11 | g.121137634G>T | CA383019071 | TBCEL-TECTA,TECTA | c.3155G>T (p.Trp1052Leu) c.462G>T c.4112G>T (p.Trp1371Leu) | |
| 11 | g.121137635G>A | CA383019072 | TBCEL-TECTA,TECTA | c.3156G>A (p.Trp1052Ter) c.463G>A c.4113G>A (p.Trp1371Ter) | ClinVar dbSNP |
| 11 | g.121137635G>C | CA383019073 | TBCEL-TECTA,TECTA | c.3156G>C (p.Trp1052Cys) c.463G>C c.4113G>C (p.Trp1371Cys) | |
| 11 | g.121137635G= | CA2004733825 | TBCEL-TECTA,TECTA | c.3156G= (p.Trp1052=) c.463G= c.4113G= (p.Trp1371=) | |
| 11 | g.121137635G>T | CA383019074 | TBCEL-TECTA,TECTA | c.3156G>T (p.Trp1052Cys) c.463G>T c.4113G>T (p.Trp1371Cys) | ClinVar |
| 11 | g.121137636G>A | CA383019076 | TBCEL-TECTA,TECTA | c.3157G>A (p.Val1053Met) c.464G>A c.4114G>A (p.Val1372Met) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.121137636G>C | CA383019077 | TBCEL-TECTA,TECTA | c.3157G>C (p.Val1053Leu) c.464G>C c.4114G>C (p.Val1372Leu) | |
| 11 | g.121137636G= | CA2004733828 | TBCEL-TECTA,TECTA | c.3157G= (p.Val1053=) c.464G= c.4114G= (p.Val1372=) | |
| 11 | g.121137636G>T | CA383019075 | TBCEL-TECTA,TECTA | c.3157G>T (p.Val1053Leu) c.464G>T c.4114G>T (p.Val1372Leu) | |
| 11 | g.121137637T>A | CA383019078 | TBCEL-TECTA,TECTA | c.3158T>A (p.Val1053Glu) c.465T>A c.4115T>A (p.Val1372Glu) | |
| 11 | g.121137637T>C | CA383019080 | TBCEL-TECTA,TECTA | c.3158T>C (p.Val1053Ala) c.465T>C c.4115T>C (p.Val1372Ala) | |
| 11 | g.121137637T>G | CA383019079 | TBCEL-TECTA,TECTA | c.3158T>G (p.Val1053Gly) c.465T>G c.4115T>G (p.Val1372Gly) | |
| 11 | g.121137638G>A | CA477382711 | TBCEL-TECTA,TECTA | c.3159G>A (p.Val1053=) c.466G>A c.4116G>A (p.Val1372=) | |
| 11 | g.121137638G>C | CA477382712 | TBCEL-TECTA,TECTA | c.3159G>C (p.Val1053=) c.466G>C c.4116G>C (p.Val1372=) | |
| 11 | g.121137638G>T | CA477382713 | TBCEL-TECTA,TECTA | c.3159G>T (p.Val1053=) c.466G>T c.4116G>T (p.Val1372=) | |
| 11 | g.121137639G>A | CA383019081 | TBCEL-TECTA,TECTA | c.3160G>A (p.Asp1054Asn) c.467G>A c.4117G>A (p.Asp1373Asn) | |
| 11 | g.121137639G>C | CA383019082 | TBCEL-TECTA,TECTA | c.3160G>C (p.Asp1054His) c.467G>C c.4117G>C (p.Asp1373His) | |
| 11 | g.121137639G>T | CA383019083 | TBCEL-TECTA,TECTA | c.3160G>T (p.Asp1054Tyr) c.467G>T c.4117G>T (p.Asp1373Tyr) | |
| 11 | g.121137640A>C | CA383019084 | TBCEL-TECTA,TECTA | c.3161A>C (p.Asp1054Ala) c.468A>C c.4118A>C (p.Asp1373Ala) | |
| 11 | g.121137640A>G | CA383019085 | TBCEL-TECTA,TECTA | c.3161A>G (p.Asp1054Gly) c.468A>G c.4118A>G (p.Asp1373Gly) | gnomAD v4 |
| 11 | g.121137640A>T | CA383019086 | TBCEL-TECTA,TECTA | c.3161A>T (p.Asp1054Val) c.468A>T c.4118A>T (p.Asp1373Val) | |
| 11 | g.121137641C>A | CA383019087 | TBCEL-TECTA,TECTA | c.3162C>A (p.Asp1054Glu) c.469C>A c.4119C>A (p.Asp1373Glu) | |
| 11 | g.121137641C>G | CA383019088 | TBCEL-TECTA,TECTA | c.3162C>G (p.Asp1054Glu) c.469C>G c.4119C>G (p.Asp1373Glu) | |
| 11 | g.121137641C>T | CA477382723 | TBCEL-TECTA,TECTA | c.3162C>T (p.Asp1054=) c.469C>T c.4119C>T (p.Asp1373=) | |
| 11 | g.121137642C>A | CA383019089 | TBCEL-TECTA,TECTA | c.3163C>A (p.Leu1055Met) c.470C>A c.4120C>A (p.Leu1374Met) | |
| 11 | g.121137642C= | CA2004733830 | TBCEL-TECTA,TECTA | c.3163C= (p.Leu1055=) c.470C= c.4120C= (p.Leu1374=) | |
| 11 | g.121137642C>G | CA383019090 | TBCEL-TECTA,TECTA | c.3163C>G (p.Leu1055Val) c.470C>G c.4120C>G (p.Leu1374Val) | dbSNP |
| 11 | g.121137642C>T | CA477382369 | TBCEL-TECTA,TECTA | c.3163C>T (p.Leu1055=) c.470C>T c.4120C>T (p.Leu1374=) | |
| 11 | g.121137643T>A | CA383019093 | TBCEL-TECTA,TECTA | c.3164T>A (p.Leu1055Gln) c.471T>A c.4121T>A (p.Leu1374Gln) | |
| 11 | g.121137643T>C | CA383019092 | TBCEL-TECTA,TECTA | c.3164T>C (p.Leu1055Pro) c.471T>C c.4121T>C (p.Leu1374Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.121137643T>G | CA383019091 | TBCEL-TECTA,TECTA | c.3164T>G (p.Leu1055Arg) c.471T>G c.4121T>G (p.Leu1374Arg) | |
| 11 | g.121137643T= | CA2004733832 | TBCEL-TECTA,TECTA | c.3164T= (p.Leu1055=) c.471T= c.4121T= (p.Leu1374=) | |
| 11 | g.121137644G>A | CA477382372 | TBCEL-TECTA,TECTA | c.3165G>A (p.Leu1055=) c.472G>A c.4122G>A (p.Leu1374=) | |
| 11 | g.121137644G>C | CA477382373 | TBCEL-TECTA,TECTA | c.3165G>C (p.Leu1055=) c.472G>C c.4122G>C (p.Leu1374=) | |
| 11 | g.121137644G>T | CA477382374 | TBCEL-TECTA,TECTA | c.3165G>T (p.Leu1055=) c.472G>T c.4122G>T (p.Leu1374=) | |
| 11 | g.121137645G>A | CA383019094 | TBCEL-TECTA,TECTA | c.3166G>A (p.Asp1056Asn) c.473G>A c.4123G>A (p.Asp1375Asn) | |
| 11 | g.121137645G>C | CA383019095 | TBCEL-TECTA,TECTA | c.3166G>C (p.Asp1056His) c.473G>C c.4123G>C (p.Asp1375His) | gnomAD v4 |
| 11 | g.121137645G>T | CA383019096 | TBCEL-TECTA,TECTA | c.3166G>T (p.Asp1056Tyr) c.473G>T c.4123G>T (p.Asp1375Tyr) | |
| 11 | g.121137645_121137646delinsGA | CA2004733834 | TBCEL-TECTA,TECTA | c.3166_3167delinsGA (p.Asp1056=) c.473_474delinsGA c.4123_4124delinsGA (p.Asp1375=) | |
| 11 | g.121137646del | CA477382376 | TBCEL-TECTA,TECTA | c.3167del (p.Asp1056AlafsTer?) c.474del c.4124del (p.Asp1375AlafsTer?) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.121137646A>C | CA383019097 | TBCEL-TECTA,TECTA | c.3167A>C (p.Asp1056Ala) c.474A>C c.4124A>C (p.Asp1375Ala) | |
| 11 | g.121137646A>G | CA383019098 | TBCEL-TECTA,TECTA | c.3167A>G (p.Asp1056Gly) c.474A>G c.4124A>G (p.Asp1375Gly) | |
| 11 | g.121137646A>T | CA383019099 | TBCEL-TECTA,TECTA | c.3167A>T (p.Asp1056Val) c.474A>T c.4124A>T (p.Asp1375Val) | |
| 11 | g.121137647C>A | CA383019100 | TBCEL-TECTA,TECTA | c.3168C>A (p.Asp1056Glu) c.475C>A c.4125C>A (p.Asp1375Glu) | |
| 11 | g.121137647C>G | CA383019101 | TBCEL-TECTA,TECTA | c.3168C>G (p.Asp1056Glu) c.475C>G c.4125C>G (p.Asp1375Glu) | |
| 11 | g.121137647C>T | CA477382378 | TBCEL-TECTA,TECTA | c.3168C>T (p.Asp1056=) c.475C>T c.4125C>T (p.Asp1375=) | |
| 11 | g.121137648T>A | CA254067 | TBCEL-TECTA,TECTA | c.3169T>A (p.Cys1057Ser) c.476T>A c.4126T>A (p.Cys1376Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.121137648T>C | CA383019102 | TBCEL-TECTA,TECTA | c.3169T>C (p.Cys1057Arg) c.476T>C c.4126T>C (p.Cys1376Arg) | |
| 11 | g.121137648T>G | CA383019103 | TBCEL-TECTA,TECTA | c.3169T>G (p.Cys1057Gly) c.476T>G c.4126T>G (p.Cys1376Gly) | |
| 11 | g.121137648T= | CA2004733837 | TBCEL-TECTA,TECTA | c.3169T= (p.Cys1057=) c.476T= c.4126T= (p.Cys1376=) | |
| 11 | g.121137648dup | CA477382379 | TBCEL-TECTA,TECTA | c.3169dup (p.Cys1057LeufsTer24) c.476dup c.4126dup (p.Cys1376LeufsTer24) | |
| 11 | g.121137649G>A | CA383019105 | TBCEL-TECTA,TECTA | c.3170G>A (p.Cys1057Tyr) c.477G>A c.4127G>A (p.Cys1376Tyr) | |
| 11 | g.121137649G>C | CA383019106 | TBCEL-TECTA,TECTA | c.3170G>C (p.Cys1057Ser) c.477G>C c.4127G>C (p.Cys1376Ser) | |
| 11 | g.121137649G>T | CA383019104 | TBCEL-TECTA,TECTA | c.3170G>T (p.Cys1057Phe) c.477G>T c.4127G>T (p.Cys1376Phe) | |
| 11 | g.121137650C>A | CA383019107 | TBCEL-TECTA,TECTA | c.3171C>A (p.Cys1057Ter) c.478C>A c.4128C>A (p.Cys1376Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.121137650C= | CA2004733839 | TBCEL-TECTA,TECTA | c.3171C= (p.Cys1057=) c.478C= c.4128C= (p.Cys1376=) | |
| 11 | g.121137650C>G | CA383019108 | TBCEL-TECTA,TECTA | c.3171C>G (p.Cys1057Trp) c.478C>G c.4128C>G (p.Cys1376Trp) | |
| 11 | g.121137650C>T | CA477382382 | TBCEL-TECTA,TECTA | c.3171C>T (p.Cys1057=) c.478C>T c.4128C>T (p.Cys1376=) | dbSNP COSMIC |
| 11 | g.121137651C>A | CA383019109 | TBCEL-TECTA,TECTA | c.3172C>A (p.Gln1058Lys) c.479C>A c.4129C>A (p.Gln1377Lys) | |
| 11 | g.121137651C>G | CA383019110 | TBCEL-TECTA,TECTA | c.3172C>G (p.Gln1058Glu) c.479C>G c.4129C>G (p.Gln1377Glu) | |
| 11 | g.121137651C>T | CA383019111 | TBCEL-TECTA,TECTA | c.3172C>T (p.Gln1058Ter) c.479C>T c.4129C>T (p.Gln1377Ter) | |
| 11 | g.121137652A>C | CA383019114 | TBCEL-TECTA,TECTA | c.3173A>C (p.Gln1058Pro) c.480A>C c.4130A>C (p.Gln1377Pro) | |
| 11 | g.121137652A>G | CA383019112 | TBCEL-TECTA,TECTA | c.3173A>G (p.Gln1058Arg) c.480A>G c.4130A>G (p.Gln1377Arg) | |
| 11 | g.121137652A>T | CA383019113 | TBCEL-TECTA,TECTA | c.3173A>T (p.Gln1058Leu) c.480A>T c.4130A>T (p.Gln1377Leu) | |
| 11 | g.121137653G>A | CA477382385 | TBCEL-TECTA,TECTA | c.3174G>A (p.Gln1058=) c.481G>A c.4131G>A (p.Gln1377=) | |
| 11 | g.121137653G>C | CA383019115 | TBCEL-TECTA,TECTA | c.3174G>C (p.Gln1058His) c.481G>C c.4131G>C (p.Gln1377His) | |
| 11 | g.121137653G>T | CA383019116 | TBCEL-TECTA,TECTA | c.3174G>T (p.Gln1058His) c.481G>T c.4131G>T (p.Gln1377His) | |
| 11 | g.121137654A= | CA2004733841 | TBCEL-TECTA,TECTA | c.3175A= (p.Ile1059=) c.482A= c.4132A= (p.Ile1378=) | |
| 11 | g.121137654A>C | CA383019117 | TBCEL-TECTA,TECTA | c.3175A>C (p.Ile1059Leu) c.482A>C c.4132A>C (p.Ile1378Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.121137654A>G | CA383019118 | TBCEL-TECTA,TECTA | c.3175A>G (p.Ile1059Val) c.482A>G c.4132A>G (p.Ile1378Val) | |
| 11 | g.121137654A>T | CA383019119 | TBCEL-TECTA,TECTA | c.3175A>T (p.Ile1059Phe) c.482A>T c.4132A>T (p.Ile1378Phe) | |
| 11 | g.121137654_121137657delinsATCT | CA2004733842 | TBCEL-TECTA,TECTA | c.3175_3178delinsATCT (p.Ile1059=) c.482_485delinsATCT c.4132_4135delinsATCT (p.Ile1378=) | |
| 11 | g.121137655T>A | CA383019120 | TBCEL-TECTA,TECTA | c.3176T>A (p.Ile1059Asn) c.483T>A c.4133T>A (p.Ile1378Asn) | |
| 11 | g.121137655T>C | CA383019122 | TBCEL-TECTA,TECTA | c.3176T>C (p.Ile1059Thr) c.483T>C c.4133T>C (p.Ile1378Thr) | |
| 11 | g.121137655T>G | CA383019121 | TBCEL-TECTA,TECTA | c.3176T>G (p.Ile1059Ser) c.483T>G c.4133T>G (p.Ile1378Ser) | |
| 11 | g.121137655dup | CA2616511739 | TBCEL-TECTA,TECTA | c.3176dup (p.Phe1060LeufsTer21) c.483dup c.4133dup (p.Phe1379LeufsTer21) | gnomAD v4 |
| 11 | g.121137658_121137660del | CA2004733844 | TBCEL-TECTA,TECTA | c.3179_3181del (p.Phe1060del) c.486_488del c.4136_4138del (p.Phe1379del) | dbSNP gnomAD v4 |
| 11 | g.121137656C>A | CA477382389 | TBCEL-TECTA,TECTA | c.3177C>A (p.Ile1059=) c.484C>A c.4134C>A (p.Ile1378=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.121137656C= | CA2004733845 | TBCEL-TECTA,TECTA | c.3177C= (p.Ile1059=) c.484C= c.4134C= (p.Ile1378=) | |
| 11 | g.121137656C>G | CA383019123 | TBCEL-TECTA,TECTA | c.3177C>G (p.Ile1059Met) c.484C>G c.4134C>G (p.Ile1378Met) | |
| 11 | g.121137656C>T | CA477382388 | TBCEL-TECTA,TECTA | c.3177C>T (p.Ile1059=) c.484C>T c.4134C>T (p.Ile1378=) | |
| 11 | g.121137657T>A | CA383019124 | TBCEL-TECTA,TECTA | c.3178T>A (p.Phe1060Ile) c.485T>A c.4135T>A (p.Phe1379Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.121137657T>C | CA383019125 | TBCEL-TECTA,TECTA | c.3178T>C (p.Phe1060Leu) c.485T>C c.4135T>C (p.Phe1379Leu) | gnomAD v4 |
| 11 | g.121137657T>G | CA383019126 | TBCEL-TECTA,TECTA | c.3178T>G (p.Phe1060Val) c.485T>G c.4135T>G (p.Phe1379Val) | |
| 11 | g.121137657T= | CA2004733847 | TBCEL-TECTA,TECTA | c.3178T= (p.Phe1060=) c.485T= c.4135T= (p.Phe1379=) | |
| 11 | g.121137658T>A | CA383019127 | TBCEL-TECTA,TECTA | c.3179T>A (p.Phe1060Tyr) c.486T>A c.4136T>A (p.Phe1379Tyr) | |
| 11 | g.121137658T>C | CA383019128 | TBCEL-TECTA,TECTA | c.3179T>C (p.Phe1060Ser) c.486T>C c.4136T>C (p.Phe1379Ser) | |
| 11 | g.121137658T>G | CA383019129 | TBCEL-TECTA,TECTA | c.3179T>G (p.Phe1060Cys) c.486T>G c.4136T>G (p.Phe1379Cys) | |
| 11 | g.121137659C>A | CA383019130 | TBCEL-TECTA,TECTA | c.3180C>A (p.Phe1060Leu) c.487C>A c.4137C>A (p.Phe1379Leu) | |
| 11 | g.121137659C>G | CA383019131 | TBCEL-TECTA,TECTA | c.3180C>G (p.Phe1060Leu) c.487C>G c.4137C>G (p.Phe1379Leu) | |
| 11 | g.121137659C>T | CA477382396 | TBCEL-TECTA,TECTA | c.3180C>T (p.Phe1060=) c.487C>T c.4137C>T (p.Phe1379=) | gnomAD v4 |