Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
3	g.71784939T>C	CA2666513487	PROK2	c.96+18A>G (n.96+18A>G)	gnomAD v4
3	g.71784940G>A	CA2577841926	PROK2	c.96+17C>T (n.96+17C>T)	gnomAD v4
3	g.71784940G>T	CA2666513488	PROK2	c.96+17C>A (n.96+17C>A)	gnomAD v4
3	g.71784941C>A	CA2666513489	PROK2	c.96+16G>T (n.96+16G>T)	gnomAD v4
3	g.71784941C>T	CA910039627	PROK2	c.96+16G>A (n.96+16G>A)	dbSNP gnomAD v4
3	g.71784942G>A	CA2599833430	PROK2	c.96+15C>T (n.96+15C>T)	dbSNP gnomAD v3 gnomAD v4
3	g.71784942G>T	CA2666513490	PROK2	c.96+15C>A (n.96+15C>A)	dbSNP gnomAD v4
3	g.71784943C>A	CA2666513491	PROK2	c.96+14G>T (n.96+14G>T)	dbSNP gnomAD v4
3	g.71784943C>G	CA2666513493	PROK2	c.96+14G>C (n.96+14G>C)	gnomAD v4
3	g.71784943C>T	CA2666513492	PROK2	c.96+14G>A (n.96+14G>A)	dbSNP gnomAD v4
3	g.71784944C>A	CA2666513494	PROK2	c.96+13G>T (n.96+13G>T)	gnomAD v4
3	g.71784944C>T	CA2666513495	PROK2	c.96+13G>A (n.96+13G>A)	gnomAD v4
3	g.71784945C>A	CA2550737895	PROK2	c.96+12G>T (n.96+12G>T)	gnomAD v4
3	g.71784945C>T	CA2492024	PROK2	c.96+12G>A (n.96+12G>A)	dbSNP ExAC gnomAD v2 gnomAD v4
3	g.71784946G>A	CA76548279	PROK2	c.96+11C>T (n.96+11C>T)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3	g.71784946G>C	CA910039636	PROK2	c.96+11C>G (n.96+11C>G)	dbSNP gnomAD v4
3	g.71784946G>T	CA2666513496	PROK2	c.96+11C>A (n.96+11C>A)	gnomAD v4
3	g.71784947G>A	CA543597963	PROK2	c.96+10C>T (n.96+10C>T)	dbSNP gnomAD v2 gnomAD v4
3	g.71784947G>T	CA2666513497	PROK2	c.96+10C>A (n.96+10C>A)	gnomAD v4
3	g.71784948G>A	CA2666513498	PROK2	c.96+9C>T (n.96+9C>T)	gnomAD v4
3	g.71784948G>T	CA2666513499	PROK2	c.96+9C>A (n.96+9C>A)	gnomAD v4
3	g.71784949C>A	CA2666513500	PROK2	c.96+8G>T (n.96+8G>T)	gnomAD v4
3	g.71784949C>G	CA2702871408	PROK2	c.96+8G>C (n.96+8G>C)	dbSNP
3	g.71784949C>T	CA910039641	PROK2	c.96+8G>A (n.96+8G>A)	dbSNP gnomAD v4
3	g.71784950C>A	CA2666513501	PROK2	c.96+7G>T (n.96+7G>T)	gnomAD v4
3	g.71784950C>T	CA2666513502	PROK2	c.96+7G>A (n.96+7G>A)	dbSNP gnomAD v4
3	g.71784951G>A	CA2502978864	PROK2	c.96+6C>T (n.96+6C>T)	dbSNP gnomAD v4
3	g.71784951G>C	CA2666513504	PROK2	c.96+6C>G (n.96+6C>G)	gnomAD v4
3	g.71784951G>T	CA2666513503	PROK2	c.96+6C>A (n.96+6C>A)	gnomAD v4
3	g.71784952C>A	CA2666513505	PROK2	c.96+5G>T (n.96+5G>T)	gnomAD v4
3	g.71784952C>G	CA2702959199	PROK2	c.96+5G>C (n.96+5G>C)	dbSNP
3	g.71784952C>T	CA2666513506	PROK2	c.96+5G>A (n.96+5G>A)	gnomAD v4
3	g.71784953T>C	CA2499216983	PROK2	c.96+4A>G (n.96+4A>G)	ClinVar dbSNP gnomAD v4
3	g.71784954del	CA2666513507	PROK2	c.96+4del (n.96+4del)	gnomAD v4
3	g.71784954T>A	CA2666513508	PROK2	c.96+3A>T (n.96+3A>T)	gnomAD v4
3	g.71784954T>C	CA2666513509	PROK2	c.96+3A>G (n.96+3A>G)	gnomAD v4
3	g.71784955del	CA2666513510	PROK2	c.96+2del (n.96+2del)	gnomAD v4
3	g.71784955A>C	CA353501228	PROK2	c.96+2T>G (n.96+2T>G)
3	g.71784955A>G	CA353501229	PROK2	c.96+2T>C (n.96+2T>C)	dbSNP gnomAD v4
3	g.71784955A>T	CA353501230	PROK2	c.96+2T>A (n.96+2T>A)
3	g.71784956C>A	CA353501231	PROK2	c.96+1G>T (n.96+1G>T)	gnomAD v4
3	g.71784956C>G	CA353501232	PROK2	c.96+1G>C (n.96+1G>C)
3	g.71784956C>T	CA353501233	PROK2	c.96+1G>A (n.96+1G>A)	gnomAD v4
3	g.71784959del	CA2666513511	PROK2	c.96+1del	gnomAD v4
3	g.71784957C>A	CA434163144	PROK2	c.96G>T (p.Gly32=)	gnomAD v4
3	g.71784957C>G	CA434163145	PROK2	c.96G>C (p.Gly32=)	dbSNP gnomAD v4
3	g.71784957C>T	CA434163146	PROK2	c.96G>A (p.Gly32=)	gnomAD v4
3	g.71784958C>A	CA353501234	PROK2	c.95G>T (p.Gly32Val)	gnomAD v4
3	g.71784958C>G	CA76548280	PROK2	c.95G>C (p.Gly32Ala)	dbSNP gnomAD v3 gnomAD v4
3	g.71784958C>T	CA353501235	PROK2	c.95G>A (p.Gly32Glu)	gnomAD v4
3	g.71784959C>A	CA353501237	PROK2	c.94G>T (p.Gly32Trp)	gnomAD v4
3	g.71784959C>G	CA252840	PROK2	c.94G>C (p.Gly32Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3	g.71784959C>T	CA353501236	PROK2	c.94G>A (p.Gly32Arg)	dbSNP gnomAD v4
3	g.71784960G>A	CA434163153	PROK2	c.93C>T (p.Thr31=)	dbSNP gnomAD v4
3	g.71784960G>C	CA434163154	PROK2	c.93C>G (p.Thr31=)
3	g.71784960G>T	CA434163155	PROK2	c.93C>A (p.Thr31=)	dbSNP gnomAD v3 gnomAD v4
3	g.71784961del	CA2666513512	PROK2	c.93del (p.Ala33LeufsTer23)	gnomAD v4
3	g.71784961G>A	CA353501238	PROK2	c.92C>T (p.Thr31Ile)	dbSNP gnomAD v4
3	g.71784961G>C	CA353501239	PROK2	c.92C>G (p.Thr31Ser)	gnomAD v4
3	g.71784961G>T	CA353501240	PROK2	c.92C>A (p.Thr31Asn)	gnomAD v4
3	g.71784962T>A	CA353501241	PROK2	c.91A>T (p.Thr31Ser)
3	g.71784962T>C	CA353501242	PROK2	c.91A>G (p.Thr31Ala)	gnomAD v4
3	g.71784962T>G	CA353501243	PROK2	c.91A>C (p.Thr31Pro)
3	g.71784963G>A	CA434163164	PROK2	c.90C>T (p.Ile30=)	dbSNP gnomAD v4
3	g.71784963G>C	CA353501244	PROK2	c.90C>G (p.Ile30Met)
3	g.71784963G>T	CA434163167	PROK2	c.90C>A (p.Ile30=)	gnomAD v4
3	g.71784964A>C	CA353501245	PROK2	c.89T>G (p.Ile30Ser)
3	g.71784964A>G	CA353501246	PROK2	c.89T>C (p.Ile30Thr)	dbSNP gnomAD v2 gnomAD v4
3	g.71784964A>T	CA353501247	PROK2	c.89T>A (p.Ile30Asn)	gnomAD v4
3	g.71784965T>A	CA353501248	PROK2	c.88A>T (p.Ile30Phe)	gnomAD v4
3	g.71784965T>C	CA353501249	PROK2	c.88A>G (p.Ile30Val)	gnomAD v4
3	g.71784965T>G	CA353501250	PROK2	c.88A>C (p.Ile30Leu)
3	g.71784966del	CA2666513513	PROK2	c.87del (p.Ile30SerfsTer26)	gnomAD v4
3	g.71784966C>A	CA434163172	PROK2	c.87G>T (p.Val29=)	gnomAD v4
3	g.71784966C>G	CA434163176	PROK2	c.87G>C (p.Val29=)	gnomAD v4
3	g.71784966C>T	CA434163174	PROK2	c.87G>A (p.Val29=)	dbSNP gnomAD v4
3	g.71784967A>C	CA353501253	PROK2	c.86T>G (p.Val29Gly)
3	g.71784967A>G	CA353501252	PROK2	c.86T>C (p.Val29Ala)	gnomAD v4
3	g.71784967A>T	CA353501251	PROK2	c.86T>A (p.Val29Glu)	gnomAD v4
3	g.71784968C>A	CA353501254	PROK2	c.85G>T (p.Val29Leu)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3	g.71784968C>G	CA353501255	PROK2	c.85G>C (p.Val29Leu)	gnomAD v4
3	g.71784968C>T	CA76548289	PROK2	c.85G>A (p.Val29Met)	ClinVar dbSNP gnomAD v4
3	g.71784969G>A	CA434163186	PROK2	c.84C>T (p.Ala28=)	gnomAD v4
3	g.71784969G>C	CA2492025	PROK2	c.84C>G (p.Ala28=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3	g.71784969G>T	CA434163182	PROK2	c.84C>A (p.Ala28=)	gnomAD v4
3	g.71784970G>A	CA353501256	PROK2	c.83C>T (p.Ala28Val)	gnomAD v4
3	g.71784970G>C	CA353501257	PROK2	c.83C>G (p.Ala28Gly)
3	g.71784970G>T	CA353501258	PROK2	c.83C>A (p.Ala28Asp)	gnomAD v4
3	g.71784971del	CA2666513514	PROK2	c.82del (p.Ala28ProfsTer2)	gnomAD v4
3	g.71784971C>A	CA353501259	PROK2	c.82G>T (p.Ala28Ser)	gnomAD v4
3	g.71784971C>G	CA353501260	PROK2	c.82G>C (p.Ala28Pro)	gnomAD v4
3	g.71784971C>T	CA353501261	PROK2	c.82G>A (p.Ala28Thr)	gnomAD v4
3	g.71784972G>A	CA434163193	PROK2	c.81C>T (p.Ala27=)	gnomAD v4
3	g.71784972G>C	CA434163196	PROK2	c.81C>G (p.Ala27=)	gnomAD v4
3	g.71784972G>T	CA434163195	PROK2	c.81C>A (p.Ala27=)	dbSNP gnomAD v3 gnomAD v4
3	g.71784973del	CA2666513515	PROK2	c.81del (p.Ala28ProfsTer2)	gnomAD v4
3	g.71784973G>A	CA353501262	PROK2	c.80C>T (p.Ala27Val)	gnomAD v4
3	g.71784973G>C	CA353501263	PROK2	c.80C>G (p.Ala27Gly)
3	g.71784973G>T	CA353501264	PROK2	c.80C>A (p.Ala27Asp)	gnomAD v4
3	g.71784974C>A	CA353501266	PROK2	c.79G>T (p.Ala27Ser)	gnomAD v4
3	g.71784974C>G	CA353501267	PROK2	c.79G>C (p.Ala27Pro)
3	g.71784974C>T	CA353501265	PROK2	c.79G>A (p.Ala27Thr)	dbSNP gnomAD v2 gnomAD v4
3	g.71784975G>A	CA434163201	PROK2	c.78C>T (p.Asp26=)	dbSNP gnomAD v4
3	g.71784975G>C	CA353501269	PROK2	c.78C>G (p.Asp26Glu)	gnomAD v4
3	g.71784975G>T	CA353501268	PROK2	c.78C>A (p.Asp26Glu)	gnomAD v4
3	g.71784976T>A	CA353501271	PROK2	c.77A>T (p.Asp26Val)	dbSNP gnomAD v3 gnomAD v4
3	g.71784976T>C	CA353501270	PROK2	c.77A>G (p.Asp26Gly)	dbSNP gnomAD v4
3	g.71784976T>G	CA353501272	PROK2	c.77A>C (p.Asp26Ala)
3	g.71784977C>A	CA353501273	PROK2	c.76G>T (p.Asp26Tyr)	gnomAD v4
3	g.71784977C>G	CA353501275	PROK2	c.76G>C (p.Asp26His)
3	g.71784977C>T	CA353501274	PROK2	c.76G>A (p.Asp26Asn)	dbSNP gnomAD v3 gnomAD v4
3	g.71784980del	CA543597964	PROK2	c.76del (p.Asp26ThrfsTer4)	dbSNP gnomAD v2 gnomAD v4
3	g.71784979_71784980del	CA2666513516	PROK2	c.75_76del (p.Asp26ArgfsTer9)	gnomAD v4
3	g.71784978C>A	CA434163207	PROK2	c.75G>T (p.Gly25=)	gnomAD v4
3	g.71784978C>G	CA434163208	PROK2	c.75G>C (p.Gly25=)
3	g.71784978C>T	CA434163209	PROK2	c.75G>A (p.Gly25=)	gnomAD v4
3	g.71784979C>A	CA353501276	PROK2	c.74G>T (p.Gly25Val)	gnomAD v4
3	g.71784979C>G	CA353501277	PROK2	c.74G>C (p.Gly25Ala)
3	g.71784979C>T	CA353501278	PROK2	c.74G>A (p.Gly25Glu)	dbSNP gnomAD v4
3	g.71784980C>A	CA353501279	PROK2	c.73G>T (p.Gly25Trp)	gnomAD v4
3	g.71784980C>G	CA353501280	PROK2	c.73G>C (p.Gly25Arg)
3	g.71784980C>T	CA353501281	PROK2	c.73G>A (p.Gly25Arg)	gnomAD v4
3	g.71784981A>C	CA434163216	PROK2	c.72T>G (p.Ala24=)	gnomAD v4
3	g.71784981A>G	CA434163217	PROK2	c.72T>C (p.Ala24=)	gnomAD v4
3	g.71784981A>T	CA434163218	PROK2	c.72T>A (p.Ala24=)	gnomAD v4
3	g.71784982G>A	CA353501282	PROK2	c.71C>T (p.Ala24Val)	gnomAD v4
3	g.71784982G>C	CA353501283	PROK2	c.71C>G (p.Ala24Gly)	dbSNP gnomAD v3 gnomAD v4
3	g.71784982G>T	CA353501284	PROK2	c.71C>A (p.Ala24Asp)	gnomAD v4
3	g.71784983C>A	CA353501285	PROK2	c.70G>T (p.Ala24Ser)	dbSNP gnomAD v4
3	g.71784983C>G	CA270914	PROK2	c.70G>C (p.Ala24Pro)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3	g.71784983C>T	CA353501286	PROK2	c.70G>A (p.Ala24Thr)	dbSNP gnomAD v4
3	g.71784984G>A	CA434163228	PROK2	c.69C>T (p.Arg23=)	gnomAD v4
3	g.71784984G>C	CA434163229	PROK2	c.69C>G (p.Arg23=)
3	g.71784984G>T	CA434163230	PROK2	c.69C>A (p.Arg23=)	gnomAD v4
3	g.71784985del	CA2666513517	PROK2	c.68del (p.Arg23ProfsTer7)	gnomAD v4
3	g.71784985C>A	CA353501287	PROK2	c.68G>T (p.Arg23Leu)	gnomAD v4
3	g.71784985C>G	CA353501288	PROK2	c.68G>C (p.Arg23Pro)
3	g.71784985C>T	CA76548312	PROK2	c.68G>A (p.Arg23His)	dbSNP gnomAD v4
3	g.71784986G>A	CA76548313	PROK2	c.67C>T (p.Arg23Cys)	dbSNP gnomAD v4
3	g.71784986G>C	CA353501289	PROK2	c.67C>G (p.Arg23Gly)	dbSNP gnomAD v3 gnomAD v4
3	g.71784986G>T	CA353501290	PROK2	c.67C>A (p.Arg23Ser)	gnomAD v4
3	g.71784989del	CA2666513518	PROK2	c.67del (p.Arg23AlafsTer7)	gnomAD v4
3	g.71784987G>A	CA434163235	PROK2	c.66C>T (p.Pro22=)	gnomAD v4
3	g.71784987G>C	CA434163238	PROK2	c.66C>G (p.Pro22=)
3	g.71784987G>T	CA434163236	PROK2	c.66C>A (p.Pro22=)	gnomAD v4
3	g.71784988G>A	CA353501291	PROK2	c.65C>T (p.Pro22Leu)	gnomAD v4
3	g.71784988G>C	CA353501292	PROK2	c.65C>G (p.Pro22Arg)	gnomAD v4
3	g.71784988G>T	CA353501293	PROK2	c.65C>A (p.Pro22His)	gnomAD v4
3	g.71784989G>A	CA353501294	PROK2	c.64C>T (p.Pro22Ser)	gnomAD v4
3	g.71784989G>C	CA353501295	PROK2	c.64C>G (p.Pro22Ala)
3	g.71784989G>T	CA353501296	PROK2	c.64C>A (p.Pro22Thr)	gnomAD v4
3	g.71784990C>A	CA434163244	PROK2	c.63G>T (p.Thr21=)	gnomAD v4
3	g.71784990C>G	CA434163246	PROK2	c.63G>C (p.Thr21=)
3	g.71784990C>T	CA76548314	PROK2	c.63G>A (p.Thr21=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3	g.71784991G>A	CA353501298	PROK2	c.62C>T (p.Thr21Met)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3	g.71784991G>C	CA353501299	PROK2	c.62C>G (p.Thr21Arg)
3	g.71784991G>T	CA353501297	PROK2	c.62C>A (p.Thr21Lys)	gnomAD v4
3	g.71784992T>A	CA353501300	PROK2	c.61A>T (p.Thr21Ser)	gnomAD v4
3	g.71784992T>C	CA353501301	PROK2	c.61A>G (p.Thr21Ala)	gnomAD v4
3	g.71784992T>G	CA353501302	PROK2	c.61A>C (p.Thr21Pro)
3	g.71784992dup	CA2666513519	PROK2	c.61dup (p.Thr21AsnfsTer15)	gnomAD v4
3	g.71784993G>A	CA434163260	PROK2	c.60C>T (p.Leu20=)	gnomAD v4
3	g.71784993G>C	CA434163264	PROK2	c.60C>G (p.Leu20=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3	g.71784993G>T	CA434163262	PROK2	c.60C>A (p.Leu20=)	gnomAD v4
3	g.71784994A>C	CA353501303	PROK2	c.59T>G (p.Leu20Arg)
3	g.71784994A>G	CA353501304	PROK2	c.59T>C (p.Leu20Pro)	gnomAD v4
3	g.71784994A>T	CA353501305	PROK2	c.59T>A (p.Leu20His)	gnomAD v4
3	g.71785000_71785002del	CA2666513520	PROK2	c.57_59del (p.Leu20del)	gnomAD v4
3	g.71784995G>A	CA353501306	PROK2	c.58C>T (p.Leu20Phe)	dbSNP gnomAD v2 gnomAD v4
3	g.71784995G>C	CA353501307	PROK2	c.58C>G (p.Leu20Val)	gnomAD v4
3	g.71784995G>T	CA353501308	PROK2	c.58C>A (p.Leu20Ile)	gnomAD v4
3	g.71785003_71785014del	CA2666513521	PROK2	c.47_58del (p.Pro16_Leu19del)	gnomAD v4
3	g.71784996del	CA2756755867	PROK2	c.57del (p.Leu20SerfsTer10)
3	g.71784996C>A	CA434163273	PROK2	c.57G>T (p.Leu19=)	gnomAD v4
3	g.71784996C>G	CA434163275	PROK2	c.57G>C (p.Leu19=)	ClinVar dbSNP gnomAD v3 gnomAD v4
3	g.71784996C>T	CA434163277	PROK2	c.57G>A (p.Leu19=)	dbSNP gnomAD v3 gnomAD v4
3	g.71784997A>C	CA353501309	PROK2	c.56T>G (p.Leu19Arg)
3	g.71784997A>G	CA353501310	PROK2	c.56T>C (p.Leu19Pro)	gnomAD v4
3	g.71784997A>T	CA353501311	PROK2	c.56T>A (p.Leu19Gln)
3	g.71784998G>A	CA434163283	PROK2	c.55C>T (p.Leu19=)	dbSNP gnomAD v4
3	g.71784998G>C	CA353501313	PROK2	c.55C>G (p.Leu19Val)
3	g.71784998G>T	CA353501312	PROK2	c.55C>A (p.Leu19Met)	gnomAD v4
3	g.71784999C>A	CA434163287	PROK2	c.54G>T (p.Leu18=)	gnomAD v4
3	g.71784999C>G	CA434163288	PROK2	c.54G>C (p.Leu18=)
3	g.71784999C>T	CA76548316	PROK2	c.54G>A (p.Leu18=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3	g.71785000A>C	CA353501314	PROK2	c.53T>G (p.Leu18Arg)
3	g.71785000A>G	CA353501315	PROK2	c.53T>C (p.Leu18Pro)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3	g.71785000A>T	CA353501316	PROK2	c.53T>A (p.Leu18Gln)	gnomAD v4
3	g.71785001G>A	CA434163294	PROK2	c.52C>T (p.Leu18=)	dbSNP gnomAD v3 gnomAD v4
3	g.71785001G>C	CA353501317	PROK2	c.52C>G (p.Leu18Val)	gnomAD v4
3	g.71785001G>T	CA353501318	PROK2	c.52C>A (p.Leu18Met)	gnomAD v4
3	g.71785006_71785008del	CA2666513522	PROK2	c.50_52del (p.Pro17del)	gnomAD v4
3	g.71785002del	CA2666513523	PROK2	c.51del (p.Leu18CysfsTer12)	gnomAD v4
3	g.71785002C>A	CA434163303	PROK2	c.51G>T (p.Pro17=)	gnomAD v4
3	g.71785002C>G	CA434163298	PROK2	c.51G>C (p.Pro17=)	dbSNP gnomAD v3 gnomAD v4
3	g.71785002C>T	CA434163301	PROK2	c.51G>A (p.Pro17=)	gnomAD v4 COSMIC
3	g.71785003G>A	CA353501319	PROK2	c.50C>T (p.Pro17Leu)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3	g.71785003G>C	CA353501320	PROK2	c.50C>G (p.Pro17Arg)
3	g.71785003G>T	CA353501321	PROK2	c.50C>A (p.Pro17Gln)	gnomAD v4
3	g.71785004G>A	CA353501322	PROK2	c.49C>T (p.Pro17Ser)	gnomAD v4
3	g.71785004G>C	CA353501323	PROK2	c.49C>G (p.Pro17Ala)
3	g.71785004G>T	CA353501324	PROK2	c.49C>A (p.Pro17Thr)	gnomAD v4
3	g.71785005C>A	CA434163310	PROK2	c.48G>T (p.Pro16=)	gnomAD v4
3	g.71785005C>G	CA434163313	PROK2	c.48G>C (p.Pro16=)	gnomAD v4
3	g.71785005C>T	CA434163314	PROK2	c.48G>A (p.Pro16=)	gnomAD v4
3	g.71785006G>A	CA353501325	PROK2	c.47C>T (p.Pro16Leu)	gnomAD v4
3	g.71785006G>C	CA353501326	PROK2	c.47C>G (p.Pro16Arg)	dbSNP gnomAD v3 gnomAD v4
3	g.71785006G>T	CA353501327	PROK2	c.47C>A (p.Pro16Gln)	gnomAD v4
3	g.71785007G>A	CA353501329	PROK2	c.46C>T (p.Pro16Ser)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3	g.71785007G>C	CA353501330	PROK2	c.46C>G (p.Pro16Ala)
3	g.71785007G>T	CA353501328	PROK2	c.46C>A (p.Pro16Thr)	gnomAD v4
3	g.71785013_71785015dup	CA2666513525	PROK2	c.44_46dup (p.Leu15_Pro16insLeu)	gnomAD v4
3	g.71785010_71785015dup	CA2497038051	PROK2	c.41_46dup (p.Leu15_Pro16insLeuLeu)	dbSNP gnomAD v4
3	g.71785013_71785015del	CA2666513524	PROK2	c.44_46del (p.Leu15del)	gnomAD v4
3	g.71785008C>A	CA434163324	PROK2	c.45G>T (p.Leu15=)	gnomAD v4
3	g.71785008C>G	CA434163328	PROK2	c.45G>C (p.Leu15=)	gnomAD v4
3	g.71785008C>T	CA434163326	PROK2	c.45G>A (p.Leu15=)	gnomAD v4
3	g.71785009A>C	CA353501333	PROK2	c.44T>G (p.Leu15Arg)
3	g.71785009A>G	CA353501331	PROK2	c.44T>C (p.Leu15Pro)	gnomAD v4
3	g.71785009A>T	CA353501332	PROK2	c.44T>A (p.Leu15Gln)	gnomAD v4 COSMIC COSMIC
3	g.71785010G>A	CA434163334	PROK2	c.43C>T (p.Leu15=)	gnomAD v4
3	g.71785010G>C	CA353501334	PROK2	c.43C>G (p.Leu15Val)
3	g.71785010G>T	CA353501335	PROK2	c.43C>A (p.Leu15Met)	gnomAD v4
3	g.71785011del	CA2666513526	PROK2	c.42del (p.Leu15CysfsTer15)	gnomAD v4
3	g.71785011C>A	CA434163339	PROK2	c.42G>T (p.Leu14=)	gnomAD v4
3	g.71785011C>G	CA434163342	PROK2	c.42G>C (p.Leu14=)	dbSNP gnomAD v3 gnomAD v4
3	g.71785011C>T	CA434163344	PROK2	c.42G>A (p.Leu14=)	dbSNP gnomAD v4
3	g.71785012A>C	CA353501336	PROK2	c.41T>G (p.Leu14Arg)
3	g.71785012A>G	CA353501337	PROK2	c.41T>C (p.Leu14Pro)	gnomAD v4
3	g.71785012A>T	CA353501338	PROK2	c.41T>A (p.Leu14Gln)
3	g.71785013G>A	CA434163350	PROK2	c.40C>T (p.Leu14=)	dbSNP gnomAD v3 gnomAD v4
3	g.71785013G>C	CA353501339	PROK2	c.40C>G (p.Leu14Val)
3	g.71785013G>T	CA353501340	PROK2	c.40C>A (p.Leu14Met)	gnomAD v4
3	g.71785014C>A	CA353501341	PROK2	c.39G>T (p.Leu13Phe)	dbSNP gnomAD v4
3	g.71785014C>G	CA353501342	PROK2	c.39G>C (p.Leu13Phe)	gnomAD v4
3	g.71785014C>T	CA434163357	PROK2	c.39G>A (p.Leu13=)	gnomAD v4
3	g.71785015A>C	CA353501343	PROK2	c.38T>G (p.Leu13Trp)	gnomAD v4
3	g.71785015A>G	CA353501344	PROK2	c.38T>C (p.Leu13Ser)	gnomAD v4
3	g.71785015A>T	CA353501345	PROK2	c.38T>A (p.Leu13Ter)
3	g.71785016del	CA2666513527	PROK2	c.38del (p.Leu13CysfsTer17)	gnomAD v4
3	g.71785016A>C	CA353501346	PROK2	c.37T>G (p.Leu13Val)
3	g.71785016A>G	CA434163368	PROK2	c.37T>C (p.Leu13=)	dbSNP gnomAD v4
3	g.71785016A>T	CA353501347	PROK2	c.37T>A (p.Leu13Met)
3	g.71785017G>A	CA434163371	PROK2	c.36C>T (p.Leu12=)	gnomAD v4
3	g.71785017G>C	CA434163372	PROK2	c.36C>G (p.Leu12=)
3	g.71785017G>T	CA434163373	PROK2	c.36C>A (p.Leu12=)	gnomAD v4
3	g.71785018_71785033del	CA2599833440	PROK2	c.21_36del (p.Pro8CysfsTer17)	dbSNP gnomAD v3 gnomAD v4
3	g.71785018A>C	CA353501348	PROK2	c.35T>G (p.Leu12Arg)
3	g.71785018A>G	CA76548321	PROK2	c.35T>C (p.Leu12Pro)	dbSNP gnomAD v4
3	g.71785018A>T	CA353501349	PROK2	c.35T>A (p.Leu12His)
3	g.71785019G>A	CA353501350	PROK2	c.34C>T (p.Leu12Phe)	gnomAD v4
3	g.71785019G>C	CA353501351	PROK2	c.34C>G (p.Leu12Val)
3	g.71785019G>T	CA353501352	PROK2	c.34C>A (p.Leu12Ile)	gnomAD v4
3	g.71785020G>A	CA434163379	PROK2	c.33C>T (p.Leu11=)	ClinVar dbSNP gnomAD v3 gnomAD v4
3	g.71785020G>C	CA434163381	PROK2	c.33C>G (p.Leu11=)
3	g.71785020G>T	CA434163380	PROK2	c.33C>A (p.Leu11=)	gnomAD v4
3	g.71785021A>C	CA353501353	PROK2	c.32T>G (p.Leu11Arg)
3	g.71785021A>G	CA353501354	PROK2	c.32T>C (p.Leu11Pro)	gnomAD v4
3	g.71785021A>T	CA353501355	PROK2	c.32T>A (p.Leu11His)	gnomAD v4
3	g.71785022G>A	CA353501356	PROK2	c.31C>T (p.Leu11Phe)	gnomAD v4
3	g.71785022G>C	CA353501357	PROK2	c.31C>G (p.Leu11Val)	gnomAD v4
3	g.71785022G>T	CA353501358	PROK2	c.31C>A (p.Leu11Ile)	gnomAD v4
3	g.71785023del	CA2666513528	PROK2	c.30del (p.Leu11SerfsTer19)	gnomAD v4
3	g.71785023C>A	CA76548325	PROK2	c.30G>T (p.Leu10=)	ClinVar dbSNP gnomAD v4
3	g.71785023C>G	CA434163383	PROK2	c.30G>C (p.Leu10=)
3	g.71785023C>T	CA434163386	PROK2	c.30G>A (p.Leu10=)	gnomAD v4
3	g.71785024A>C	CA353501361	PROK2	c.29T>G (p.Leu10Arg)	gnomAD v4
3	g.71785024A>G	CA353501360	PROK2	c.29T>C (p.Leu10Pro)	gnomAD v4
3	g.71785024A>T	CA353501359	PROK2	c.29T>A (p.Leu10Gln)
3	g.71785025G>A	CA434163393	PROK2	c.28C>T (p.Leu10=)	dbSNP gnomAD v4
3	g.71785025G>C	CA353501362	PROK2	c.28C>G (p.Leu10Val)
3	g.71785025G>T	CA353501363	PROK2	c.28C>A (p.Leu10Met)	gnomAD v4
3	g.71785026del	CA2666513529	PROK2	c.28del (p.Leu10CysfsTer20)	gnomAD v4
3	g.71785026G>A	CA76548351	PROK2	c.27C>T (p.Leu9=)	dbSNP gnomAD v3 gnomAD v4
3	g.71785026G>C	CA434163396	PROK2	c.27C>G (p.Leu9=)	gnomAD v4
3	g.71785026G>T	CA434163398	PROK2	c.27C>A (p.Leu9=)	gnomAD v4
3	g.71785027A>C	CA353501364	PROK2	c.26T>G (p.Leu9Arg)	gnomAD v4
3	g.71785027A>G	CA353501365	PROK2	c.26T>C (p.Leu9Pro)	gnomAD v4
3	g.71785027A>T	CA353501366	PROK2	c.26T>A (p.Leu9His)	dbSNP gnomAD v3 gnomAD v4
3	g.71785028G>A	CA2492026	PROK2	c.25C>T (p.Leu9Phe)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3	g.71785028G>C	CA353501367	PROK2	c.25C>G (p.Leu9Val)
3	g.71785028G>T	CA353501368	PROK2	c.25C>A (p.Leu9Ile)	gnomAD v4
3	g.71785029T>A	CA434163405	PROK2	c.24A>T (p.Pro8=)	gnomAD v4
3	g.71785029T>C	CA434163406	PROK2	c.24A>G (p.Pro8=)	gnomAD v4
3	g.71785029T>G	CA434163408	PROK2	c.24A>C (p.Pro8=)	dbSNP gnomAD v3 gnomAD v4
3	g.71785030G>A	CA353501369	PROK2	c.23C>T (p.Pro8Leu)	gnomAD v4
3	g.71785030G>C	CA353501370	PROK2	c.23C>G (p.Pro8Arg)	gnomAD v4
3	g.71785030G>T	CA353501371	PROK2	c.23C>A (p.Pro8Gln)	gnomAD v4
3	g.71785033del	CA543597965	PROK2	c.23del (p.Pro8HisfsTer22)	dbSNP gnomAD v2 gnomAD v4
3	g.71785031G>A	CA353501373	PROK2	c.22C>T (p.Pro8Ser)	gnomAD v4
3	g.71785031G>C	CA353501374	PROK2	c.22C>G (p.Pro8Ala)
3	g.71785031G>T	CA353501372	PROK2	c.22C>A (p.Pro8Thr)	gnomAD v4
3	g.71785032G>A	CA434163418	PROK2	c.21C>T (p.Ala7=)	gnomAD v4
3	g.71785032G>C	CA434163420	PROK2	c.21C>G (p.Ala7=)
3	g.71785032G>T	CA434163421	PROK2	c.21C>A (p.Ala7=)	dbSNP gnomAD v4
3	g.71785033G>A	CA353501375	PROK2	c.20C>T (p.Ala7Val)	dbSNP gnomAD v4
3	g.71785033G>C	CA353501376	PROK2	c.20C>G (p.Ala7Gly)
3	g.71785033G>T	CA353501377	PROK2	c.20C>A (p.Ala7Asp)	gnomAD v4
3	g.71785034C>A	CA353501378	PROK2	c.19G>T (p.Ala7Ser)	gnomAD v4
3	g.71785034C>G	CA353501379	PROK2	c.19G>C (p.Ala7Pro)	gnomAD v4
3	g.71785034C>T	CA353501380	PROK2	c.19G>A (p.Ala7Thr)	gnomAD v4
3	g.71785035G>A	CA434163429	PROK2	c.18C>T (p.Cys6=)	dbSNP gnomAD v4
3	g.71785035G>C	CA353501381	PROK2	c.18C>G (p.Cys6Trp)
3	g.71785035G>T	CA353501382	PROK2	c.18C>A (p.Cys6Ter)	gnomAD v4
3	g.71785036del	CA2666513530	PROK2	c.17del (p.Cys6SerfsTer24)	gnomAD v4
3	g.71785036C>A	CA353501383	PROK2	c.17G>T (p.Cys6Phe)	gnomAD v4
3	g.71785036C>G	CA353501384	PROK2	c.17G>C (p.Cys6Ser)
3	g.71785036C>T	CA353501385	PROK2	c.17G>A (p.Cys6Tyr)	gnomAD v4
3	g.71785037A>C	CA353501386	PROK2	c.16T>G (p.Cys6Gly)
3	g.71785037A>G	CA353501387	PROK2	c.16T>C (p.Cys6Arg)	gnomAD v4
3	g.71785037A>T	CA353501388	PROK2	c.16T>A (p.Cys6Ser)	dbSNP gnomAD v4
3	g.71785038G>A	CA434163439	PROK2	c.15C>T (p.Cys5=)	gnomAD v4
3	g.71785038G>C	CA353501389	PROK2	c.15C>G (p.Cys5Trp)
3	g.71785038G>T	CA353501390	PROK2	c.15C>A (p.Cys5Ter)	gnomAD v4
3	g.71785039C>A	CA353501391	PROK2	c.14G>T (p.Cys5Phe)	gnomAD v4
3	g.71785039C>G	CA353501393	PROK2	c.14G>C (p.Cys5Ser)
3	g.71785039C>T	CA353501392	PROK2	c.14G>A (p.Cys5Tyr)	gnomAD v4

Number of alleles fetched