Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.206767069_206767072delinsTCTG	CA1323320459	FASTKD2	c.376_379delinsTCTG (p.Ser126=) n.434_437delinsTCTG
2	g.206767070_206767072del	CA2074873	FASTKD2	c.377_379del (p.Ser126_Asp127delinsTyr) n.435_437del	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.206767071T>A	CA431115057	FASTKD2	c.378T>A (p.Ser126=) n.436T>A
2	g.206767071T>C	CA431115059	FASTKD2	c.378T>C (p.Ser126=) n.436T>C
2	g.206767071T>G	CA431115060	FASTKD2	c.378T>G (p.Ser126=) n.436T>G
2	g.206767077_206767079del	CA2577223887	FASTKD2	c.384_386del (p.Asp128del) n.442_444del	gnomAD v4
2	g.206767072G>A	CA350070304	FASTKD2	c.379G>A (p.Asp127Asn) n.437G>A
2	g.206767072G>C	CA350070300	FASTKD2	c.379G>C (p.Asp127His) n.437G>C
2	g.206767072G>T	CA350070302	FASTKD2	c.379G>T (p.Asp127Tyr) n.437G>T	gnomAD v4
2	g.206767073A>C	CA350070309	FASTKD2	c.380A>C (p.Asp127Ala) n.438A>C
2	g.206767073A>G	CA350070311	FASTKD2	c.380A>G (p.Asp127Gly) n.438A>G
2	g.206767073A>T	CA350070313	FASTKD2	c.380A>T (p.Asp127Val) n.438A>T
2	g.206767074T>A	CA350070316	FASTKD2	c.381T>A (p.Asp127Glu) n.439T>A
2	g.206767074T>C	CA431115070	FASTKD2	c.381T>C (p.Asp127=) n.439T>C	gnomAD v4
2	g.206767074T>G	CA350070321	FASTKD2	c.381T>G (p.Asp127Glu) n.439T>G	gnomAD v4
2	g.206767075G>A	CA350070324	FASTKD2	c.382G>A (p.Asp128Asn) n.440G>A
2	g.206767075G>C	CA350070327	FASTKD2	c.382G>C (p.Asp128His) n.440G>C
2	g.206767075G>T	CA350070330	FASTKD2	c.382G>T (p.Asp128Tyr) n.440G>T
2	g.206767076A=	CA1323320460	FASTKD2	c.383A= (p.Asp128=) n.441A=
2	g.206767076A>C	CA350070333	FASTKD2	c.383A>C (p.Asp128Ala) n.441A>C	gnomAD v4
2	g.206767076A>G	CA350070339	FASTKD2	c.383A>G (p.Asp128Gly) n.441A>G	dbSNP
2	g.206767076A>T	CA350070345	FASTKD2	c.383A>T (p.Asp128Val) n.441A>T
2	g.206767077T>A	CA350070348	FASTKD2	c.384T>A (p.Asp128Glu) n.442T>A
2	g.206767077T>C	CA431115076	FASTKD2	c.384T>C (p.Asp128=) n.442T>C
2	g.206767077T>G	CA350070352	FASTKD2	c.384T>G (p.Asp128Glu) n.442T>G
2	g.206767078G>A	CA2074874	FASTKD2	c.385G>A (p.Glu129Lys) n.443G>A	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.206767078G>C	CA350070357	FASTKD2	c.385G>C (p.Glu129Gln) n.443G>C
2	g.206767078G=	CA1323320461	FASTKD2	c.385G= (p.Glu129=) n.443G=
2	g.206767078G>T	CA350070360	FASTKD2	c.385G>T (p.Glu129Ter) n.443G>T	gnomAD v4
2	g.206767079A>C	CA350070368	FASTKD2	c.386A>C (p.Glu129Ala) n.444A>C
2	g.206767079A>G	CA350070376	FASTKD2	c.386A>G (p.Glu129Gly) n.444A>G
2	g.206767079A>T	CA350070379	FASTKD2	c.386A>T (p.Glu129Val) n.444A>T
2	g.206767080A>C	CA350070382	FASTKD2	c.387A>C (p.Glu129Asp) n.445A>C
2	g.206767080A>G	CA431115080	FASTKD2	c.387A>G (p.Glu129=) n.445A>G
2	g.206767080A>T	CA350070389	FASTKD2	c.387A>T (p.Glu129Asp) n.445A>T
2	g.206767081T>A	CA350070391	FASTKD2	c.388T>A (p.Leu130Met) n.446T>A
2	g.206767081T>C	CA431115081	FASTKD2	c.388T>C (p.Leu130=) n.446T>C	gnomAD v4
2	g.206767081T>G	CA350070393	FASTKD2	c.388T>G (p.Leu130Val) n.446T>G
2	g.206767082T>A	CA350070399	FASTKD2	c.389T>A (p.Leu130Ter) n.447T>A
2	g.206767082T>C	CA350070400	FASTKD2	c.389T>C (p.Leu130Ser) n.447T>C	gnomAD v4
2	g.206767082T>G	CA350070402	FASTKD2	c.389T>G (p.Leu130Trp) n.447T>G
2	g.206767083G>A	CA431115085	FASTKD2	c.390G>A (p.Leu130=) n.448G>A	gnomAD v4
2	g.206767083G>C	CA350070406	FASTKD2	c.390G>C (p.Leu130Phe) n.448G>C
2	g.206767083G>T	CA350070407	FASTKD2	c.390G>T (p.Leu130Phe) n.448G>T
2	g.206767084A>C	CA350070408	FASTKD2	c.391A>C (p.Lys131Gln) n.449A>C
2	g.206767084A>G	CA350070409	FASTKD2	c.391A>G (p.Lys131Glu) n.449A>G	gnomAD v4
2	g.206767084A>T	CA350070411	FASTKD2	c.391A>T (p.Lys131Ter) n.449A>T
2	g.206767085A=	CA1323320462	FASTKD2	c.392A= (p.Lys131=) n.450A=
2	g.206767085A>C	CA350070413	FASTKD2	c.392A>C (p.Lys131Thr) n.450A>C
2	g.206767085A>G	CA2074875	FASTKD2	c.392A>G (p.Lys131Arg) n.450A>G	dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched