Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.121168767C>ACA477383591TBCEL-TECTA,TECTAc.5841C>A (p.Arg1947=)
c.5826C>A (p.Arg1942=)
c.3133C>A
n.2221C>A
c.6783C>A (p.Arg2261=)
 dbSNP
11g.121168767C=CA2004752460TBCEL-TECTA,TECTAc.5841C= (p.Arg1947=)
c.5826C= (p.Arg1942=)
c.3133C=
n.2221C=
c.6783C= (p.Arg2261=)
11g.121168767C>GCA229853356TBCEL-TECTA,TECTAc.5841C>G (p.Arg1947=)
c.5826C>G (p.Arg1942=)
c.3133C>G
n.2221C>G
c.6783C>G (p.Arg2261=)
 dbSNP
11g.121168767C>TCA477383590TBCEL-TECTA,TECTAc.5841C>T (p.Arg1947=)
c.5826C>T (p.Arg1942=)
c.3133C>T
n.2221C>T
c.6783C>T (p.Arg2261=)
 gnomAD v4
11g.121168768C>ACA383036752TBCEL-TECTA,TECTAc.5842C>A (p.Gln1948Lys)
c.5827C>A (p.Gln1943Lys)
c.3134C>A
n.2222C>A
c.6784C>A (p.Gln2262Lys)
11g.121168768C>GCA383036753TBCEL-TECTA,TECTAc.5842C>G (p.Gln1948Glu)
c.5827C>G (p.Gln1943Glu)
c.3134C>G
n.2222C>G
c.6784C>G (p.Gln2262Glu)
11g.121168768C>TCA383036754TBCEL-TECTA,TECTAc.5842C>T (p.Gln1948Ter)
c.5827C>T (p.Gln1943Ter)
c.3134C>T
n.2222C>T
c.6784C>T (p.Gln2262Ter)
11g.121168769A=CA2004752464TBCEL-TECTA,TECTAc.5843A= (p.Gln1948=)
c.5828A= (p.Gln1943=)
c.3135A=
n.2223A=
c.6785A= (p.Gln2262=)
11g.121168769A>CCA383036755TBCEL-TECTA,TECTAc.5843A>C (p.Gln1948Pro)
c.5828A>C (p.Gln1943Pro)
c.3135A>C
n.2223A>C
c.6785A>C (p.Gln2262Pro)
11g.121168769A>GCA383036756TBCEL-TECTA,TECTAc.5843A>G (p.Gln1948Arg)
c.5828A>G (p.Gln1943Arg)
c.3135A>G
n.2223A>G
c.6785A>G (p.Gln2262Arg)
 dbSNP gnomAD v2 gnomAD v4
11g.121168769A>TCA383036757TBCEL-TECTA,TECTAc.5843A>T (p.Gln1948Leu)
c.5828A>T (p.Gln1943Leu)
c.3135A>T
n.2223A>T
c.6785A>T (p.Gln2262Leu)
 dbSNP gnomAD v3 gnomAD v4
11g.121168770G>ACA477383592TBCEL-TECTA,TECTAc.5844G>A (p.Gln1948=)
c.5829G>A (p.Gln1943=)
c.3136G>A
n.2224G>A
c.6786G>A (p.Gln2262=)
11g.121168770G>CCA383036758TBCEL-TECTA,TECTAc.5844G>C (p.Gln1948His)
c.5829G>C (p.Gln1943His)
c.3136G>C
n.2224G>C
c.6786G>C (p.Gln2262His)
 dbSNP gnomAD v3 gnomAD v4
11g.121168770G=CA2004752468TBCEL-TECTA,TECTAc.5844G= (p.Gln1948=)
c.5829G= (p.Gln1943=)
c.3136G=
n.2224G=
c.6786G= (p.Gln2262=)
11g.121168770G>TCA383036759TBCEL-TECTA,TECTAc.5844G>T (p.Gln1948His)
c.5829G>T (p.Gln1943His)
c.3136G>T
n.2224G>T
c.6786G>T (p.Gln2262His)
11g.121168771G>ACA383036760TBCEL-TECTA,TECTAc.5845G>A (p.Gly1949Ser)
c.5830G>A (p.Gly1944Ser)
c.3137G>A
n.2225G>A
c.6787G>A (p.Gly2263Ser)
 dbSNP gnomAD v2 gnomAD v4
11g.121168771G>CCA6327833TBCEL-TECTA,TECTAc.5845G>C (p.Gly1949Arg)
c.5830G>C (p.Gly1944Arg)
c.3137G>C
n.2225G>C
c.6787G>C (p.Gly2263Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121168771G=CA2004752472TBCEL-TECTA,TECTAc.5845G= (p.Gly1949=)
c.5830G= (p.Gly1944=)
c.3137G=
n.2225G=
c.6787G= (p.Gly2263=)
11g.121168771G>TCA383036761TBCEL-TECTA,TECTAc.5845G>T (p.Gly1949Cys)
c.5830G>T (p.Gly1944Cys)
c.3137G>T
n.2225G>T
c.6787G>T (p.Gly2263Cys)
11g.121168772G>ACA383036763TBCEL-TECTA,TECTAc.5846G>A (p.Gly1949Asp)
c.5831G>A (p.Gly1944Asp)
c.3138G>A
n.2226G>A
c.6788G>A (p.Gly2263Asp)
11g.121168772G>CCA383036764TBCEL-TECTA,TECTAc.5846G>C (p.Gly1949Ala)
c.5831G>C (p.Gly1944Ala)
c.3138G>C
n.2226G>C
c.6788G>C (p.Gly2263Ala)
11g.121168772G>TCA383036762TBCEL-TECTA,TECTAc.5846G>T (p.Gly1949Val)
c.5831G>T (p.Gly1944Val)
c.3138G>T
n.2226G>T
c.6788G>T (p.Gly2263Val)
11g.121168773T>ACA477383593TBCEL-TECTA,TECTAc.5847T>A (p.Gly1949=)
c.5832T>A (p.Gly1944=)
c.3139T>A
n.2227T>A
c.6789T>A (p.Gly2263=)
11g.121168773T>CCA477383595TBCEL-TECTA,TECTAc.5847T>C (p.Gly1949=)
c.5832T>C (p.Gly1944=)
c.3139T>C
n.2227T>C
c.6789T>C (p.Gly2263=)
11g.121168773T>GCA477383594TBCEL-TECTA,TECTAc.5847T>G (p.Gly1949=)
c.5832T>G (p.Gly1944=)
c.3139T>G
n.2227T>G
c.6789T>G (p.Gly2263=)
11g.121168774G>ACA6327834TBCEL-TECTA,TECTAc.5848G>A (p.Glu1950Lys)
c.5833G>A (p.Glu1945Lys)
c.3140G>A
n.2228G>A
c.6790G>A (p.Glu2264Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121168774G>CCA383036765TBCEL-TECTA,TECTAc.5848G>C (p.Glu1950Gln)
c.5833G>C (p.Glu1945Gln)
c.3140G>C
n.2228G>C
c.6790G>C (p.Glu2264Gln)
11g.121168774G=CA2004752479TBCEL-TECTA,TECTAc.5848G= (p.Glu1950=)
c.5833G= (p.Glu1945=)
c.3140G=
n.2228G=
c.6790G= (p.Glu2264=)
11g.121168774G>TCA383036766TBCEL-TECTA,TECTAc.5848G>T (p.Glu1950Ter)
c.5833G>T (p.Glu1945Ter)
c.3140G>T
n.2228G>T
c.6790G>T (p.Glu2264Ter)
11g.121168775_121168777delCA2695215662TBCEL-TECTA,TECTAc.5849_5851del (p.Glu1950del)
c.5834_5836del (p.Glu1945del)
c.3141_3143del
n.2229_2231del
c.6791_6793del (p.Glu2264del)
11g.121168775A>CCA383036767TBCEL-TECTA,TECTAc.5849A>C (p.Glu1950Ala)
c.5834A>C (p.Glu1945Ala)
c.3141A>C
n.2229A>C
c.6791A>C (p.Glu2264Ala)
11g.121168775A>GCA383036768TBCEL-TECTA,TECTAc.5849A>G (p.Glu1950Gly)
c.5834A>G (p.Glu1945Gly)
c.3141A>G
n.2229A>G
c.6791A>G (p.Glu2264Gly)
11g.121168775A>TCA383036769TBCEL-TECTA,TECTAc.5849A>T (p.Glu1950Val)
c.5834A>T (p.Glu1945Val)
c.3141A>T
n.2229A>T
c.6791A>T (p.Glu2264Val)
11g.121168776A>CCA383036770TBCEL-TECTA,TECTAc.5850A>C (p.Glu1950Asp)
c.5835A>C (p.Glu1945Asp)
c.3142A>C
n.2230A>C
c.6792A>C (p.Glu2264Asp)
11g.121168776A>GCA477383596TBCEL-TECTA,TECTAc.5850A>G (p.Glu1950=)
c.5835A>G (p.Glu1945=)
c.3142A>G
n.2230A>G
c.6792A>G (p.Glu2264=)
11g.121168776A>TCA383036771TBCEL-TECTA,TECTAc.5850A>T (p.Glu1950Asp)
c.5835A>T (p.Glu1945Asp)
c.3142A>T
n.2230A>T
c.6792A>T (p.Glu2264Asp)
11g.121168777G>ACA383036774TBCEL-TECTA,TECTAc.5851G>A (p.Val1951Ile)
c.5836G>A (p.Val1946Ile)
c.3143G>A
n.2231G>A
c.6793G>A (p.Val2265Ile)
11g.121168777G>CCA383036773TBCEL-TECTA,TECTAc.5851G>C (p.Val1951Leu)
c.5836G>C (p.Val1946Leu)
c.3143G>C
n.2231G>C
c.6793G>C (p.Val2265Leu)
11g.121168777G>TCA383036772TBCEL-TECTA,TECTAc.5851G>T (p.Val1951Leu)
c.5836G>T (p.Val1946Leu)
c.3143G>T
n.2231G>T
c.6793G>T (p.Val2265Leu)
11g.121168778T>ACA383036775TBCEL-TECTA,TECTAc.5852T>A (p.Val1951Glu)
c.5837T>A (p.Val1946Glu)
c.3144T>A
n.2232T>A
c.6794T>A (p.Val2265Glu)
11g.121168778T>CCA383036776TBCEL-TECTA,TECTAc.5852T>C (p.Val1951Ala)
c.5837T>C (p.Val1946Ala)
c.3144T>C
n.2232T>C
c.6794T>C (p.Val2265Ala)
11g.121168778T>GCA383036777TBCEL-TECTA,TECTAc.5852T>G (p.Val1951Gly)
c.5837T>G (p.Val1946Gly)
c.3144T>G
n.2232T>G
c.6794T>G (p.Val2265Gly)
11g.121168779A>CCA477383597TBCEL-TECTA,TECTAc.5853A>C (p.Val1951=)
c.5838A>C (p.Val1946=)
c.3145A>C
n.2233A>C
c.6795A>C (p.Val2265=)
11g.121168779A>GCA477383598TBCEL-TECTA,TECTAc.5853A>G (p.Val1951=)
c.5838A>G (p.Val1946=)
c.3145A>G
n.2233A>G
c.6795A>G (p.Val2265=)
 gnomAD v3 gnomAD v4
11g.121168779A>TCA477383599TBCEL-TECTA,TECTAc.5853A>T (p.Val1951=)
c.5838A>T (p.Val1946=)
c.3145A>T
n.2233A>T
c.6795A>T (p.Val2265=)
11g.121168780G>ACA383036778TBCEL-TECTA,TECTAc.5854G>A (p.Val1952Met)
c.5839G>A (p.Val1947Met)
c.3146G>A
n.2234G>A
c.6796G>A (p.Val2266Met)
 dbSNP gnomAD v4
11g.121168780G>CCA383036779TBCEL-TECTA,TECTAc.5854G>C (p.Val1952Leu)
c.5839G>C (p.Val1947Leu)
c.3146G>C
n.2234G>C
c.6796G>C (p.Val2266Leu)
11g.121168780G=CA2004752485TBCEL-TECTA,TECTAc.5854G= (p.Val1952=)
c.5839G= (p.Val1947=)
c.3146G=
n.2234G=
c.6796G= (p.Val2266=)
11g.121168780G>TCA383036780TBCEL-TECTA,TECTAc.5854G>T (p.Val1952Leu)
c.5839G>T (p.Val1947Leu)
c.3146G>T
n.2234G>T
c.6796G>T (p.Val2266Leu)
11g.121168781T>ACA383036781TBCEL-TECTA,TECTAc.5855T>A (p.Val1952Glu)
c.5840T>A (p.Val1947Glu)
c.3147T>A
n.2235T>A
c.6797T>A (p.Val2266Glu)

Number of alleles fetched