Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.87727403C>A | CA470668710 | PAPSS2 | c.1000C>A (p.Arg334=) c.985C>A (p.Arg329=) | |
10 | g.87727403C= | CA1926063538 | PAPSS2 | c.1000C= (p.Arg334=) c.985C= (p.Arg329=) | |
10 | g.87727403C>G | CA377489518 | PAPSS2 | c.1000C>G (p.Arg334Gly) c.985C>G (p.Arg329Gly) | |
10 | g.87727403C>T | CA118420 | PAPSS2 | c.1000C>T (p.Arg334Ter) c.985C>T (p.Arg329Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.87727404G>A | CA5589623 | PAPSS2 | c.1001G>A (p.Arg334Gln) c.986G>A (p.Arg329Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.87727404G>C | CA377489520 | PAPSS2 | c.1001G>C (p.Arg334Pro) c.986G>C (p.Arg329Pro) | |
10 | g.87727404G= | CA1926063539 | PAPSS2 | c.1001G= (p.Arg334=) c.986G= (p.Arg329=) | |
10 | g.87727404G>T | CA377489519 | PAPSS2 | c.1001G>T (p.Arg334Leu) c.986G>T (p.Arg329Leu) | |
10 | g.87727405A>C | CA470668723 | PAPSS2 | c.1002A>C (p.Arg334=) c.987A>C (p.Arg329=) | |
10 | g.87727405A>G | CA470668724 | PAPSS2 | c.1002A>G (p.Arg334=) c.987A>G (p.Arg329=) | |
10 | g.87727405A>T | CA470668726 | PAPSS2 | c.1002A>T (p.Arg334=) c.987A>T (p.Arg329=) | |
10 | g.87727406G>A | CA377489521 | PAPSS2 | c.1003G>A (p.Asp335Asn) c.988G>A (p.Asp330Asn) | dbSNP gnomAD v2 |
10 | g.87727406G>C | CA377489522 | PAPSS2 | c.1003G>C (p.Asp335His) c.988G>C (p.Asp330His) | |
10 | g.87727406G= | CA1926063540 | PAPSS2 | c.1003G= (p.Asp335=) c.988G= (p.Asp330=) | |
10 | g.87727406G>T | CA377489523 | PAPSS2 | c.1003G>T (p.Asp335Tyr) c.988G>T (p.Asp330Tyr) | |
10 | g.87727407A= | CA1926063541 | PAPSS2 | c.1004A= (p.Asp335=) c.989A= (p.Asp330=) | |
10 | g.87727407A>C | CA377489524 | PAPSS2 | c.1004A>C (p.Asp335Ala) c.989A>C (p.Asp330Ala) | |
10 | g.87727407A>G | CA377489525 | PAPSS2 | c.1004A>G (p.Asp335Gly) c.989A>G (p.Asp330Gly) | dbSNP |
10 | g.87727407A>T | CA377489526 | PAPSS2 | c.1004A>T (p.Asp335Val) c.989A>T (p.Asp330Val) | |
10 | g.87727408C>A | CA377489527 | PAPSS2 | c.1005C>A (p.Asp335Glu) c.990C>A (p.Asp330Glu) | |
10 | g.87727408C= | CA1926063542 | PAPSS2 | c.1005C= (p.Asp335=) c.990C= (p.Asp330=) | |
10 | g.87727408C>G | CA377489528 | PAPSS2 | c.1005C>G (p.Asp335Glu) c.990C>G (p.Asp330Glu) | |
10 | g.87727408C>T | CA5589624 | PAPSS2 | c.1005C>T (p.Asp335=) c.990C>T (p.Asp330=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.87727409G>A | CA5589625 | PAPSS2 | c.1006G>A (p.Ala336Thr) c.991G>A (p.Ala331Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.87727409G>C | CA377489529 | PAPSS2 | c.1006G>C (p.Ala336Pro) c.991G>C (p.Ala331Pro) | |
10 | g.87727409G= | CA1926063543 | PAPSS2 | c.1006G= (p.Ala336=) c.991G= (p.Ala331=) | |
10 | g.87727409G>T | CA377489530 | PAPSS2 | c.1006G>T (p.Ala336Ser) c.991G>T (p.Ala331Ser) | |
10 | g.87727410C>A | CA377489533 | PAPSS2 | c.1007C>A (p.Ala336Asp) c.992C>A (p.Ala331Asp) | |
10 | g.87727410C= | CA1926063544 | PAPSS2 | c.1007C= (p.Ala336=) c.992C= (p.Ala331=) | |
10 | g.87727410C>G | CA377489531 | PAPSS2 | c.1007C>G (p.Ala336Gly) c.992C>G (p.Ala331Gly) | |
10 | g.87727410C>T | CA377489532 | PAPSS2 | c.1007C>T (p.Ala336Val) c.992C>T (p.Ala331Val) | ClinVar dbSNP |
10 | g.87727412_87727418del | CA2610038250 | PAPSS2 | c.1009_1015del (p.Glu337MetfsTer26) c.994_1000del (p.Glu332MetfsTer26) | gnomAD v4 |
10 | g.87727411T>A | CA470668752 | PAPSS2 | c.1008T>A (p.Ala336=) c.993T>A (p.Ala331=) | |
10 | g.87727411T>C | CA470668753 | PAPSS2 | c.1008T>C (p.Ala336=) c.993T>C (p.Ala331=) | |
10 | g.87727411T>G | CA470668756 | PAPSS2 | c.1008T>G (p.Ala336=) c.993T>G (p.Ala331=) | |
10 | g.87727412G>A | CA377489534 | PAPSS2 | c.1009G>A (p.Glu337Lys) c.994G>A (p.Glu332Lys) | |
10 | g.87727412G>C | CA377489535 | PAPSS2 | c.1009G>C (p.Glu337Gln) c.994G>C (p.Glu332Gln) | |
10 | g.87727412G>T | CA377489536 | PAPSS2 | c.1009G>T (p.Glu337Ter) c.994G>T (p.Glu332Ter) | |
10 | g.87727413A= | CA1926063545 | PAPSS2 | c.1010A= (p.Glu337=) c.995A= (p.Glu332=) | |
10 | g.87727413A>C | CA377489537 | PAPSS2 | c.1010A>C (p.Glu337Ala) c.995A>C (p.Glu332Ala) | |
10 | g.87727413A>G | CA211271797 | PAPSS2 | c.1010A>G (p.Glu337Gly) c.995A>G (p.Glu332Gly) | dbSNP |
10 | g.87727413A>T | CA377489538 | PAPSS2 | c.1010A>T (p.Glu337Val) c.995A>T (p.Glu332Val) | |
10 | g.87727414A>C | CA377489539 | PAPSS2 | c.1011A>C (p.Glu337Asp) c.996A>C (p.Glu332Asp) | |
10 | g.87727414A>G | CA470668760 | PAPSS2 | c.1011A>G (p.Glu337=) c.996A>G (p.Glu332=) | |
10 | g.87727414A>T | CA377489540 | PAPSS2 | c.1011A>T (p.Glu337Asp) c.996A>T (p.Glu332Asp) | |
10 | g.87727415T>A | CA377489541 | PAPSS2 | c.1012T>A (p.Phe338Ile) c.997T>A (p.Phe333Ile) | |
10 | g.87727415T>C | CA377489542 | PAPSS2 | c.1012T>C (p.Phe338Leu) c.997T>C (p.Phe333Leu) | |
10 | g.87727415T>G | CA377489543 | PAPSS2 | c.1012T>G (p.Phe338Val) c.997T>G (p.Phe333Val) | |
10 | g.87727416T>A | CA377489546 | PAPSS2 | c.1013T>A (p.Phe338Tyr) c.998T>A (p.Phe333Tyr) | |
10 | g.87727416T>C | CA377489545 | PAPSS2 | c.1013T>C (p.Phe338Ser) c.998T>C (p.Phe333Ser) |