Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.27328100A=CA1240224439GTF3C2c.2346T= (p.Pro782=)
c.613T=
c.872T=
c.226T=
n.391T=
c.2463T= (p.Pro821=)
c.2379T= (p.Pro793=)
c.2691T= (p.Pro897=)
c.2334T= (p.Pro778=)
c.2268T= (p.Pro756=)
c.2190T= (p.Pro730=)
c.2118T= (p.Pro706=)
2g.27328100A>CCA425389785GTF3C2c.2346T>G (p.Pro782=)
c.613T>G
c.872T>G
c.226T>G
n.391T>G
c.2463T>G (p.Pro821=)
c.2379T>G (p.Pro793=)
c.2691T>G (p.Pro897=)
c.2334T>G (p.Pro778=)
c.2268T>G (p.Pro756=)
c.2190T>G (p.Pro730=)
c.2118T>G (p.Pro706=)
 gnomAD v4
2g.27328100A>GCA1575895GTF3C2c.2346T>C (p.Pro782=)
c.613T>C
c.872T>C
c.226T>C
n.391T>C
c.2463T>C (p.Pro821=)
c.2379T>C (p.Pro793=)
c.2691T>C (p.Pro897=)
c.2334T>C (p.Pro778=)
c.2268T>C (p.Pro756=)
c.2190T>C (p.Pro730=)
c.2118T>C (p.Pro706=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27328100A>TCA425389786GTF3C2c.2346T>A (p.Pro782=)
c.613T>A
c.872T>A
c.226T>A
n.391T>A
c.2463T>A (p.Pro821=)
c.2379T>A (p.Pro793=)
c.2691T>A (p.Pro897=)
c.2334T>A (p.Pro778=)
c.2268T>A (p.Pro756=)
c.2190T>A (p.Pro730=)
c.2118T>A (p.Pro706=)
 dbSNP
2g.27328101G>ACA346168794GTF3C2c.2345C>T (p.Pro782Leu)
c.612C>T
c.871C>T
c.225C>T
n.390C>T
c.2462C>T (p.Pro821Leu)
c.2378C>T (p.Pro793Leu)
c.2690C>T (p.Pro897Leu)
c.2333C>T (p.Pro778Leu)
c.2267C>T (p.Pro756Leu)
c.2189C>T (p.Pro730Leu)
c.2117C>T (p.Pro706Leu)
2g.27328101G>CCA346168796GTF3C2c.2345C>G (p.Pro782Arg)
c.612C>G
c.871C>G
c.225C>G
n.390C>G
c.2462C>G (p.Pro821Arg)
c.2378C>G (p.Pro793Arg)
c.2690C>G (p.Pro897Arg)
c.2333C>G (p.Pro778Arg)
c.2267C>G (p.Pro756Arg)
c.2189C>G (p.Pro730Arg)
c.2117C>G (p.Pro706Arg)
 gnomAD v4
2g.27328101G>TCA346168798GTF3C2c.2345C>A (p.Pro782His)
c.612C>A
c.871C>A
c.225C>A
n.390C>A
c.2462C>A (p.Pro821His)
c.2378C>A (p.Pro793His)
c.2690C>A (p.Pro897His)
c.2333C>A (p.Pro778His)
c.2267C>A (p.Pro756His)
c.2189C>A (p.Pro730His)
c.2117C>A (p.Pro706His)
2g.27328102G>ACA346168815GTF3C2c.2344C>T (p.Pro782Ser)
c.611C>T
c.870C>T
c.224C>T
n.389C>T
c.2461C>T (p.Pro821Ser)
c.2377C>T (p.Pro793Ser)
c.2689C>T (p.Pro897Ser)
c.2332C>T (p.Pro778Ser)
c.2266C>T (p.Pro756Ser)
c.2188C>T (p.Pro730Ser)
c.2116C>T (p.Pro706Ser)
2g.27328102G>CCA346168808GTF3C2c.2344C>G (p.Pro782Ala)
c.611C>G
c.870C>G
c.224C>G
n.389C>G
c.2461C>G (p.Pro821Ala)
c.2377C>G (p.Pro793Ala)
c.2689C>G (p.Pro897Ala)
c.2332C>G (p.Pro778Ala)
c.2266C>G (p.Pro756Ala)
c.2188C>G (p.Pro730Ala)
c.2116C>G (p.Pro706Ala)
2g.27328102G>TCA346168810GTF3C2c.2344C>A (p.Pro782Thr)
c.611C>A
c.870C>A
c.224C>A
n.389C>A
c.2461C>A (p.Pro821Thr)
c.2377C>A (p.Pro793Thr)
c.2689C>A (p.Pro897Thr)
c.2332C>A (p.Pro778Thr)
c.2266C>A (p.Pro756Thr)
c.2188C>A (p.Pro730Thr)
c.2116C>A (p.Pro706Thr)
2g.27328103A>CCA425389787GTF3C2c.2343T>G (p.Pro781=)
c.610T>G
c.869T>G
c.223T>G
n.388T>G
c.2460T>G (p.Pro820=)
c.2376T>G (p.Pro792=)
c.2688T>G (p.Pro896=)
c.2331T>G (p.Pro777=)
c.2265T>G (p.Pro755=)
c.2187T>G (p.Pro729=)
c.2115T>G (p.Pro705=)
2g.27328103A>GCA425389788GTF3C2c.2343T>C (p.Pro781=)
c.610T>C
c.869T>C
c.223T>C
n.388T>C
c.2460T>C (p.Pro820=)
c.2376T>C (p.Pro792=)
c.2688T>C (p.Pro896=)
c.2331T>C (p.Pro777=)
c.2265T>C (p.Pro755=)
c.2187T>C (p.Pro729=)
c.2115T>C (p.Pro705=)
 dbSNP
2g.27328103A>TCA425389789GTF3C2c.2343T>A (p.Pro781=)
c.610T>A
c.869T>A
c.223T>A
n.388T>A
c.2460T>A (p.Pro820=)
c.2376T>A (p.Pro792=)
c.2688T>A (p.Pro896=)
c.2331T>A (p.Pro777=)
c.2265T>A (p.Pro755=)
c.2187T>A (p.Pro729=)
c.2115T>A (p.Pro705=)
2g.27328104G>ACA346168832GTF3C2c.2342C>T (p.Pro781Leu)
c.609C>T
c.868C>T
c.222C>T
n.387C>T
c.2459C>T (p.Pro820Leu)
c.2375C>T (p.Pro792Leu)
c.2687C>T (p.Pro896Leu)
c.2330C>T (p.Pro777Leu)
c.2264C>T (p.Pro755Leu)
c.2186C>T (p.Pro729Leu)
c.2114C>T (p.Pro705Leu)
2g.27328104G>CCA346168835GTF3C2c.2342C>G (p.Pro781Arg)
c.609C>G
c.868C>G
c.222C>G
n.387C>G
c.2459C>G (p.Pro820Arg)
c.2375C>G (p.Pro792Arg)
c.2687C>G (p.Pro896Arg)
c.2330C>G (p.Pro777Arg)
c.2264C>G (p.Pro755Arg)
c.2186C>G (p.Pro729Arg)
c.2114C>G (p.Pro705Arg)
2g.27328104G>TCA346168838GTF3C2c.2342C>A (p.Pro781His)
c.609C>A
c.868C>A
c.222C>A
n.387C>A
c.2459C>A (p.Pro820His)
c.2375C>A (p.Pro792His)
c.2687C>A (p.Pro896His)
c.2330C>A (p.Pro777His)
c.2264C>A (p.Pro755His)
c.2186C>A (p.Pro729His)
c.2114C>A (p.Pro705His)
 gnomAD v4
2g.27328105G>ACA1575896GTF3C2c.2341C>T (p.Pro781Ser)
c.608C>T
c.867C>T
c.221C>T
n.386C>T
c.2458C>T (p.Pro820Ser)
c.2374C>T (p.Pro792Ser)
c.2686C>T (p.Pro896Ser)
c.2329C>T (p.Pro777Ser)
c.2263C>T (p.Pro755Ser)
c.2185C>T (p.Pro729Ser)
c.2113C>T (p.Pro705Ser)
 dbSNP ExAC gnomAD v2
2g.27328105G>CCA346168841GTF3C2c.2341C>G (p.Pro781Ala)
c.608C>G
c.867C>G
c.221C>G
n.386C>G
c.2458C>G (p.Pro820Ala)
c.2374C>G (p.Pro792Ala)
c.2686C>G (p.Pro896Ala)
c.2329C>G (p.Pro777Ala)
c.2263C>G (p.Pro755Ala)
c.2185C>G (p.Pro729Ala)
c.2113C>G (p.Pro705Ala)
2g.27328105G=CA1240224440GTF3C2c.2341C= (p.Pro781=)
c.608C=
c.867C=
c.221C=
n.386C=
c.2458C= (p.Pro820=)
c.2374C= (p.Pro792=)
c.2686C= (p.Pro896=)
c.2329C= (p.Pro777=)
c.2263C= (p.Pro755=)
c.2185C= (p.Pro729=)
c.2113C= (p.Pro705=)
2g.27328105G>TCA346168843GTF3C2c.2341C>A (p.Pro781Thr)
c.608C>A
c.867C>A
c.221C>A
n.386C>A
c.2458C>A (p.Pro820Thr)
c.2374C>A (p.Pro792Thr)
c.2686C>A (p.Pro896Thr)
c.2329C>A (p.Pro777Thr)
c.2263C>A (p.Pro755Thr)
c.2185C>A (p.Pro729Thr)
c.2113C>A (p.Pro705Thr)
2g.27328106G>ACA425389790GTF3C2c.2340C>T (p.Asn780=)
c.607C>T
c.866C>T
c.220C>T
n.385C>T
c.2457C>T (p.Asn819=)
c.2373C>T (p.Asn791=)
c.2685C>T (p.Asn895=)
c.2328C>T (p.Asn776=)
c.2262C>T (p.Asn754=)
c.2184C>T (p.Asn728=)
c.2112C>T (p.Asn704=)
 dbSNP gnomAD v3 gnomAD v4
2g.27328106G>CCA346168853GTF3C2c.2340C>G (p.Asn780Lys)
c.607C>G
c.866C>G
c.220C>G
n.385C>G
c.2457C>G (p.Asn819Lys)
c.2373C>G (p.Asn791Lys)
c.2685C>G (p.Asn895Lys)
c.2328C>G (p.Asn776Lys)
c.2262C>G (p.Asn754Lys)
c.2184C>G (p.Asn728Lys)
c.2112C>G (p.Asn704Lys)
2g.27328106G=CA1240224441GTF3C2c.2340C= (p.Asn780=)
c.607C=
c.866C=
c.220C=
n.385C=
c.2457C= (p.Asn819=)
c.2373C= (p.Asn791=)
c.2685C= (p.Asn895=)
c.2328C= (p.Asn776=)
c.2262C= (p.Asn754=)
c.2184C= (p.Asn728=)
c.2112C= (p.Asn704=)
2g.27328106G>TCA346168858GTF3C2c.2340C>A (p.Asn780Lys)
c.607C>A
c.866C>A
c.220C>A
n.385C>A
c.2457C>A (p.Asn819Lys)
c.2373C>A (p.Asn791Lys)
c.2685C>A (p.Asn895Lys)
c.2328C>A (p.Asn776Lys)
c.2262C>A (p.Asn754Lys)
c.2184C>A (p.Asn728Lys)
c.2112C>A (p.Asn704Lys)
2g.27328107T>ACA346168862GTF3C2c.2339A>T (p.Asn780Ile)
c.606A>T
c.865A>T
c.219A>T
n.384A>T
c.2456A>T (p.Asn819Ile)
c.2372A>T (p.Asn791Ile)
c.2684A>T (p.Asn895Ile)
c.2327A>T (p.Asn776Ile)
c.2261A>T (p.Asn754Ile)
c.2183A>T (p.Asn728Ile)
c.2111A>T (p.Asn704Ile)
2g.27328107T>CCA44476198GTF3C2c.2339A>G (p.Asn780Ser)
c.606A>G
c.865A>G
c.219A>G
n.384A>G
c.2456A>G (p.Asn819Ser)
c.2372A>G (p.Asn791Ser)
c.2684A>G (p.Asn895Ser)
c.2327A>G (p.Asn776Ser)
c.2261A>G (p.Asn754Ser)
c.2183A>G (p.Asn728Ser)
c.2111A>G (p.Asn704Ser)
 dbSNP gnomAD v3 gnomAD v4
2g.27328107T>GCA346168871GTF3C2c.2339A>C (p.Asn780Thr)
c.606A>C
c.865A>C
c.219A>C
n.384A>C
c.2456A>C (p.Asn819Thr)
c.2372A>C (p.Asn791Thr)
c.2684A>C (p.Asn895Thr)
c.2327A>C (p.Asn776Thr)
c.2261A>C (p.Asn754Thr)
c.2183A>C (p.Asn728Thr)
c.2111A>C (p.Asn704Thr)
2g.27328107T=CA1240224442GTF3C2c.2339A= (p.Asn780=)
c.606A=
c.865A=
c.219A=
n.384A=
c.2456A= (p.Asn819=)
c.2372A= (p.Asn791=)
c.2684A= (p.Asn895=)
c.2327A= (p.Asn776=)
c.2261A= (p.Asn754=)
c.2183A= (p.Asn728=)
c.2111A= (p.Asn704=)
2g.27328108T>ACA346168881GTF3C2c.2338A>T (p.Asn780Tyr)
c.605A>T
c.864A>T
c.218A>T
n.383A>T
c.2455A>T (p.Asn819Tyr)
c.2371A>T (p.Asn791Tyr)
c.2683A>T (p.Asn895Tyr)
c.2326A>T (p.Asn776Tyr)
c.2260A>T (p.Asn754Tyr)
c.2182A>T (p.Asn728Tyr)
c.2110A>T (p.Asn704Tyr)
2g.27328108T>CCA346168882GTF3C2c.2338A>G (p.Asn780Asp)
c.605A>G
c.864A>G
c.218A>G
n.383A>G
c.2455A>G (p.Asn819Asp)
c.2371A>G (p.Asn791Asp)
c.2683A>G (p.Asn895Asp)
c.2326A>G (p.Asn776Asp)
c.2260A>G (p.Asn754Asp)
c.2182A>G (p.Asn728Asp)
c.2110A>G (p.Asn704Asp)
2g.27328108T>GCA346168878GTF3C2c.2338A>C (p.Asn780His)
c.605A>C
c.864A>C
c.218A>C
n.383A>C
c.2455A>C (p.Asn819His)
c.2371A>C (p.Asn791His)
c.2683A>C (p.Asn895His)
c.2326A>C (p.Asn776His)
c.2260A>C (p.Asn754His)
c.2182A>C (p.Asn728His)
c.2110A>C (p.Asn704His)
2g.27328109G>ACA1575897GTF3C2c.2337C>T (p.Pro779=)
c.604C>T
c.863C>T
c.217C>T
n.382C>T
c.2454C>T (p.Pro818=)
c.2370C>T (p.Pro790=)
c.2682C>T (p.Pro894=)
c.2325C>T (p.Pro775=)
c.2259C>T (p.Pro753=)
c.2181C>T (p.Pro727=)
c.2109C>T (p.Pro703=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27328109G>CCA425389791GTF3C2c.2337C>G (p.Pro779=)
c.604C>G
c.863C>G
c.217C>G
n.382C>G
c.2454C>G (p.Pro818=)
c.2370C>G (p.Pro790=)
c.2682C>G (p.Pro894=)
c.2325C>G (p.Pro775=)
c.2259C>G (p.Pro753=)
c.2181C>G (p.Pro727=)
c.2109C>G (p.Pro703=)
2g.27328109G=CA1240224443GTF3C2c.2337C= (p.Pro779=)
c.604C=
c.863C=
c.217C=
n.382C=
c.2454C= (p.Pro818=)
c.2370C= (p.Pro790=)
c.2682C= (p.Pro894=)
c.2325C= (p.Pro775=)
c.2259C= (p.Pro753=)
c.2181C= (p.Pro727=)
c.2109C= (p.Pro703=)
2g.27328109G>TCA425389792GTF3C2c.2337C>A (p.Pro779=)
c.604C>A
c.863C>A
c.217C>A
n.382C>A
c.2454C>A (p.Pro818=)
c.2370C>A (p.Pro790=)
c.2682C>A (p.Pro894=)
c.2325C>A (p.Pro775=)
c.2259C>A (p.Pro753=)
c.2181C>A (p.Pro727=)
c.2109C>A (p.Pro703=)
 gnomAD v4
2g.27328112delCA2658330668GTF3C2c.2337del (p.Asn780ThrfsTer?)
c.604del
c.863del
c.217del
n.382del
c.2454del (p.Asn819ThrfsTer?)
c.2370del (p.Asn791ThrfsTer?)
c.2682del (p.Asn895ThrfsTer?)
c.2325del (p.Asn776ThrfsTer?)
c.2259del (p.Asn754ThrfsTer?)
c.2181del (p.Asn728ThrfsTer?)
c.2109del (p.Asn704ThrfsTer?)
 gnomAD v4
2g.27328110G>ACA346168883GTF3C2c.2336C>T (p.Pro779Leu)
c.603C>T
c.862C>T
c.216C>T
n.381C>T
c.2453C>T (p.Pro818Leu)
c.2369C>T (p.Pro790Leu)
c.2681C>T (p.Pro894Leu)
c.2324C>T (p.Pro775Leu)
c.2258C>T (p.Pro753Leu)
c.2180C>T (p.Pro727Leu)
c.2108C>T (p.Pro703Leu)
2g.27328110G>CCA346168887GTF3C2c.2336C>G (p.Pro779Arg)
c.603C>G
c.862C>G
c.216C>G
n.381C>G
c.2453C>G (p.Pro818Arg)
c.2369C>G (p.Pro790Arg)
c.2681C>G (p.Pro894Arg)
c.2324C>G (p.Pro775Arg)
c.2258C>G (p.Pro753Arg)
c.2180C>G (p.Pro727Arg)
c.2108C>G (p.Pro703Arg)
2g.27328110G>TCA346168884GTF3C2c.2336C>A (p.Pro779His)
c.603C>A
c.862C>A
c.216C>A
n.381C>A
c.2453C>A (p.Pro818His)
c.2369C>A (p.Pro790His)
c.2681C>A (p.Pro894His)
c.2324C>A (p.Pro775His)
c.2258C>A (p.Pro753His)
c.2180C>A (p.Pro727His)
c.2108C>A (p.Pro703His)
2g.27328111G>ACA1575898GTF3C2c.2335C>T (p.Pro779Ser)
c.602C>T
c.861C>T
c.215C>T
n.380C>T
c.2452C>T (p.Pro818Ser)
c.2368C>T (p.Pro790Ser)
c.2680C>T (p.Pro894Ser)
c.2323C>T (p.Pro775Ser)
c.2257C>T (p.Pro753Ser)
c.2179C>T (p.Pro727Ser)
c.2107C>T (p.Pro703Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.27328111G>CCA346168890GTF3C2c.2335C>G (p.Pro779Ala)
c.602C>G
c.861C>G
c.215C>G
n.380C>G
c.2452C>G (p.Pro818Ala)
c.2368C>G (p.Pro790Ala)
c.2680C>G (p.Pro894Ala)
c.2323C>G (p.Pro775Ala)
c.2257C>G (p.Pro753Ala)
c.2179C>G (p.Pro727Ala)
c.2107C>G (p.Pro703Ala)
 gnomAD v4
2g.27328111G=CA1240224444GTF3C2c.2335C= (p.Pro779=)
c.602C=
c.861C=
c.215C=
n.380C=
c.2452C= (p.Pro818=)
c.2368C= (p.Pro790=)
c.2680C= (p.Pro894=)
c.2323C= (p.Pro775=)
c.2257C= (p.Pro753=)
c.2179C= (p.Pro727=)
c.2107C= (p.Pro703=)
2g.27328111G>TCA346168891GTF3C2c.2335C>A (p.Pro779Thr)
c.602C>A
c.861C>A
c.215C>A
n.380C>A
c.2452C>A (p.Pro818Thr)
c.2368C>A (p.Pro790Thr)
c.2680C>A (p.Pro894Thr)
c.2323C>A (p.Pro775Thr)
c.2257C>A (p.Pro753Thr)
c.2179C>A (p.Pro727Thr)
c.2107C>A (p.Pro703Thr)
2g.27328112G>ACA425389793GTF3C2c.2334C>T (p.Val778=)
c.601C>T
c.860C>T
c.214C>T
n.379C>T
c.2451C>T (p.Val817=)
c.2367C>T (p.Val789=)
c.2679C>T (p.Val893=)
c.2322C>T (p.Val774=)
c.2256C>T (p.Val752=)
c.2178C>T (p.Val726=)
c.2106C>T (p.Val702=)
 dbSNP gnomAD v2 gnomAD v4
2g.27328112G>CCA1575899GTF3C2c.2334C>G (p.Val778=)
c.601C>G
c.860C>G
c.214C>G
n.379C>G
c.2451C>G (p.Val817=)
c.2367C>G (p.Val789=)
c.2679C>G (p.Val893=)
c.2322C>G (p.Val774=)
c.2256C>G (p.Val752=)
c.2178C>G (p.Val726=)
c.2106C>G (p.Val702=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27328112G=CA1240224445GTF3C2c.2334C= (p.Val778=)
c.601C=
c.860C=
c.214C=
n.379C=
c.2451C= (p.Val817=)
c.2367C= (p.Val789=)
c.2679C= (p.Val893=)
c.2322C= (p.Val774=)
c.2256C= (p.Val752=)
c.2178C= (p.Val726=)
c.2106C= (p.Val702=)
2g.27328112G>TCA425389794GTF3C2c.2334C>A (p.Val778=)
c.601C>A
c.860C>A
c.214C>A
n.379C>A
c.2451C>A (p.Val817=)
c.2367C>A (p.Val789=)
c.2679C>A (p.Val893=)
c.2322C>A (p.Val774=)
c.2256C>A (p.Val752=)
c.2178C>A (p.Val726=)
c.2106C>A (p.Val702=)
 gnomAD v4 COSMIC
2g.27328113A>CCA346168894GTF3C2c.2333T>G (p.Val778Gly)
c.600T>G
c.859T>G
c.213T>G
n.378T>G
c.2450T>G (p.Val817Gly)
c.2366T>G (p.Val789Gly)
c.2678T>G (p.Val893Gly)
c.2321T>G (p.Val774Gly)
c.2255T>G (p.Val752Gly)
c.2177T>G (p.Val726Gly)
c.2105T>G (p.Val702Gly)
2g.27328113A>GCA346168897GTF3C2c.2333T>C (p.Val778Ala)
c.600T>C
c.859T>C
c.213T>C
n.378T>C
c.2450T>C (p.Val817Ala)
c.2366T>C (p.Val789Ala)
c.2678T>C (p.Val893Ala)
c.2321T>C (p.Val774Ala)
c.2255T>C (p.Val752Ala)
c.2177T>C (p.Val726Ala)
c.2105T>C (p.Val702Ala)
2g.27328113A>TCA346168900GTF3C2c.2333T>A (p.Val778Asp)
c.600T>A
c.859T>A
c.213T>A
n.378T>A
c.2450T>A (p.Val817Asp)
c.2366T>A (p.Val789Asp)
c.2678T>A (p.Val893Asp)
c.2321T>A (p.Val774Asp)
c.2255T>A (p.Val752Asp)
c.2177T>A (p.Val726Asp)
c.2105T>A (p.Val702Asp)

Number of alleles fetched