Transcript #00004330

Transcript name transcript variant 1
Gene name CAPN3 (calpain 3, (p94))
Chromosome 15
Transcript - NCBI ID NM_000070.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_000061.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

2806 entries on 29 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-/. 1 c.-763C>G benign r.(?) p.(=)
-/. 1 c.-719A>T benign r.(?) p.(=)
?/. 1 c.-552G>A VUS r.(?) p.(=)
?/. 1 c.-408T>C VUS r.(?) p.?
-/. 1 c.-408T>C benign r.(?) p.(=)
-/. 1 c.-408T>C benign r.(?) p.(=)
-/. 1 c.-322A>C benign r.(?) p.(=)
+/. _1_1i c.(?_-306)_(309+1_310-1)del pathogenic r.0? p.0?
?/. 1 c.-104G>C VUS r.-104g>c p.=
-/. 1 c.-104G>C benign r.-104g>c p.(=)
?/. 10 c.(1327T>C) VUS r.1327u>c p.Ser443Pro
+/. 5i c.? pathogenic r.(?_802)_(945_?)del p.?
+/. 5i c.? pathogenic r.802_945del p.Asp268_Arg315del
+/. 1 c.8C>A pathogenic r.(?) p.(Thr3Asn)
+/. 1 c.8C>A pathogenic r.(?) p.(Thr3Asn)
-/. 1 c.9C>T benign r.(?) p.(=)
?/. 1 c.10G>A VUS r.(?) p.(Val4Ile)
+/. 1 c.10G>A pathogenic r.(?) p.(Val4Ile)
+/. 1 c.10G>A pathogenic r.(?) p.(Val4Ile)
+/. 1 c.19_23del pathogenic r.(?) p.(Ala7Cysfs*8)
+/. 1 c.19_23del pathogenic r.(?) p.(Ala7Cysfs*8)
?/. 1 c.41C>T VUS r.(?) p.A14V
+/. 1 c.59del pathogenic r.(?) p.(Pro20Glnfs*37)
+/. 1 c.59del pathogenic r.(?) p.(Pro20Glnfs*37)
+/. 1 c.60del pathogenic r.(?) p.(Pro22Glnfs*35)
+/. 1 c.60del pathogenic r.(?) p.(Pro22Glnfs*35)
+/. 1 c.60del pathogenic r.(?) p.(Pro22Glnfs*35)
+/. 1 c.60del pathogenic r.(?) p.(Pro22Glnfs*35)
+/. 1 c.60del pathogenic r.(?) p.(Pro22Glnfs*35)
+/. 1 c.60del pathogenic r.(?) p.(Pro22Glnfs*35)
?/. 1 c.61G>T VUS r.(?) p.(Gly21Trp)
?/. 1 c.62G>A VUS r.(?) p.(Gly21Glu)
+/. 1 c.62G>A pathogenic r.(?) p.(Gly21Glu)
-/. 1 c.62G>A benign r.(?) p.(Gly21Glu)
-?/. - c.62G>A likely benign r.(?) p.(Gly21Glu)
?/. 1 c.77C>T VUS r.(?) p.(Pro26Leu)
+/. 1 c.77C>T pathogenic r.(?) p.(Pro26Leu)
+/. 1 c.77C>T pathogenic r.(?) p.(Pro26Leu)
+/. 1 c.77C>T pathogenic r.(?) p.(Pro26Leu)
+/. 1 c.77C>T pathogenic r.(?) p.(Pro26Leu)
-/. 1 c.78G>A benign r.(?) p.(=)
?/. 1 c.87C>G VUS r.(?) p.(Ser29Arg)
-?/. 1 c.96T>C likely benign r.(?) p.(=)
-/. - c.96T>C benign r.(?) p.(=)
-?/. 1 c.96T>C likely benign r.(?) p.(=)
-?/. 1 c.96T>C likely benign r.(?) p.(=)
-/. 1 c.96T>C benign r.(?) p.(=)
-?/. 1 c.96T>C likely benign r.(?) p.(=)
-/. 1 c.96T>C benign r.(?) p.(=)
?/. 1 c.96T>C VUS r.(?) p.(=)
-/. 1 c.96T>C benign r.(?) p.(=)
-/. 1 c.96T>C benign r.(?) p.(=)
-/. 1 c.96T>C benign r.(?) p.(=)
-/. 1 c.96T>C benign r.(?) p.(=)
+/. 1 c.100del pathogenic r.(?) p.(Ala34fs*23)
+/. 1 c.133G>A pathogenic r.133g>a p.Ala45Thr
+/. 1 c.133G>A pathogenic r.133g>a p.Ala45Thr
+/. 1 c.133G>A pathogenic r.(?) p.(Ala45Thr)
+/. 1 c.133G>A pathogenic r.(?) p.(Ala45Thr)
+/. 1 c.133G>A pathogenic r.(?) p.(Ala45Thr)
+/. 1 c.133G>A pathogenic r.(?) p.(Ala45Thr)
+/. 1 c.133G>A pathogenic r.(?) p.(Ala45Thr)
+/. 1 c.133G>A pathogenic r.(?) p.(Ala45Thr)
+/. 1 c.133G>A pathogenic r.(?) p.(Ala45Thr)
?/. 1 c.133G>A VUS r.(?) p.(Ala45Thr)
+/. 1 c.133G>A pathogenic r.(?) p.(Ala45Thr)
?/. 1 c.139A>T VUS r.(?) p.(Ile47Phe)
+/. 1 c.140_142del pathogenic r.(?) p.(Ile47del)
+/. 1 c.140_142del pathogenic r.(?) p.(Ile47del)
+/. 1 c.140_142del pathogenic r.(?) p.(Ile47del)
+/. 1 c.140_142del pathogenic r.(?) p.(Ile47del)
+/. 1 c.140_142del pathogenic r.(?) p.(Ile47del)
+/. 1 c.140_142del pathogenic r.(?) p.(Ile47del)
+/. 1 c.140_142del pathogenic r.(?) p.(Ile47del)
+/. 1 c.140_142del pathogenic r.(?) p.(Ile47del)
+/. 1 c.140_142del pathogenic r.(?) p.(Ile47del)
+/. 1 c.140_142del pathogenic r.(?) p.(Ile47del)
+/. 1 c.140_142del pathogenic r.(?) p.(Ile47del)
+/. 1 c.143G>A pathogenic r.(?) p.(Ser48Asn)
+/. 1 c.145C>T pathogenic r.(?) p.(Arg49Cys)
+/. 1 c.145C>T pathogenic r.(?) p.(Arg49Cys)
+/. 1 c.145C>T pathogenic r.(?) p.(Arg49Cys)
+/. 1 c.145C>T pathogenic r.(?) p.(Arg49Cys)
+/. 1 c.145C>T pathogenic r.(?) p.(Arg49Cys)
+/. 1 c.145C>T pathogenic r.(?) p.(Arg49Cys)
+/. 1 c.145C>T pathogenic r.(?) p.(Arg49Cys)
+/. 1 c.145C>T pathogenic r.(?) p.(Arg49Cys)
+/. 1 c.145C>T pathogenic r.(?) p.(Arg49Cys)
+/. 1 c.145C>T pathogenic r.(?) p.(Arg49Cys)
+/. 1 c.145C>T pathogenic r.(?) p.(Arg49Cys)
+/. 1 c.146G>A pathogenic r.(?) p.(Arg49His)
+/. 1 c.146G>A pathogenic r.(?) p.(Arg49His)
+/. 1 c.146G>A pathogenic r.(?) p.(Arg49His)
+/. 1 c.146G>A pathogenic r.(?) p.(Arg49His)
+/. 1 c.146G>A pathogenic r.(?) p.(Arg49His)
+/. 1 c.146G>A pathogenic r.(?) p.(Arg49His)
+/. 1 c.146G>A pathogenic r.(?) p.(Arg49His)
+/. 1 c.149A>G pathogenic r.(?) p.(Asn50Ser)
+/. 1 c.149A>G pathogenic r.(?) p.(Asn50Ser)
+/. 1 c.149A>G pathogenic r.(?) p.(Asn50Ser)
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