Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.179559611T>C | CA2573958898 | NPHS2 | c.534+68A>G (n.534+68A>G) c.357+68A>G (n.357+68A>G) c.461+68A>G (n.461+68A>G) | |
1 | g.179559612C>T | CA2573958900 | NPHS2 | c.534+67G>A (n.534+67G>A) c.357+67G>A (n.357+67G>A) c.461+67G>A (n.461+67G>A) | |
1 | g.179559612_179559631del | CA2649315867 | NPHS2 | c.534+48_534+67del (n.534+48_534+67del) c.357+48_357+67del (n.357+48_357+67del) c.461+48_461+67del (n.461+48_461+67del) | gnomAD v4 |
1 | g.179559614T>A | CA2573958901 | NPHS2 | c.534+65A>T (n.534+65A>T) c.357+65A>T (n.357+65A>T) c.461+65A>T (n.461+65A>T) | |
1 | g.179559614T>C | CA33699583 | NPHS2 | c.534+65A>G (n.534+65A>G) c.357+65A>G (n.357+65A>G) c.461+65A>G (n.461+65A>G) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.179559614T= | CA1210320247 | NPHS2 | c.534+65A= (n.534+65A=) c.357+65A= (n.357+65A=) c.461+65A= (n.461+65A=) | |
1 | g.179559617del | CA2746821867 | NPHS2 | c.534+65del (n.534+65del) c.357+65del (n.357+65del) c.461+65del (n.461+65del) | |
1 | g.179559617T>C | CA2649315869 | NPHS2 | c.534+62A>G (n.534+62A>G) c.357+62A>G (n.357+62A>G) c.461+62A>G (n.461+62A>G) | gnomAD v4 |
1 | g.179559618G>A | CA1009659972 | NPHS2 | c.534+61C>T (n.534+61C>T) c.357+61C>T (n.357+61C>T) c.461+61C>T (n.461+61C>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.179559618G= | CA1210320248 | NPHS2 | c.534+61C= (n.534+61C=) c.357+61C= (n.357+61C=) c.461+61C= (n.461+61C=) | |
1 | g.179559618G>T | CA2573958903 | NPHS2 | c.534+61C>A (n.534+61C>A) c.357+61C>A (n.357+61C>A) c.461+61C>A (n.461+61C>A) | gnomAD v4 |
1 | g.179559619T>C | CA2649315873 | NPHS2 | c.534+60A>G (n.534+60A>G) c.357+60A>G (n.357+60A>G) c.461+60A>G (n.461+60A>G) | gnomAD v4 |
1 | g.179559620C>T | CA2649315875 | NPHS2 | c.534+59G>A (n.534+59G>A) c.357+59G>A (n.357+59G>A) c.461+59G>A (n.461+59G>A) | gnomAD v4 |
1 | g.179559621C>A | CA891818104 | NPHS2 | c.534+58G>T (n.534+58G>T) c.357+58G>T (n.357+58G>T) c.461+58G>T (n.461+58G>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.179559621C= | CA1210320249 | NPHS2 | c.534+58G= (n.534+58G=) c.357+58G= (n.357+58G=) c.461+58G= (n.461+58G=) | |
1 | g.179559621C>G | CA2649315879 | NPHS2 | c.534+58G>C (n.534+58G>C) c.357+58G>C (n.357+58G>C) c.461+58G>C (n.461+58G>C) | gnomAD v4 |
1 | g.179559621C>T | CA2649315876 | NPHS2 | c.534+58G>A (n.534+58G>A) c.357+58G>A (n.357+58G>A) c.461+58G>A (n.461+58G>A) | gnomAD v4 |
1 | g.179559622A>G | CA2649315881 | NPHS2 | c.534+57T>C (n.534+57T>C) c.357+57T>C (n.357+57T>C) c.461+57T>C (n.461+57T>C) | gnomAD v4 |
1 | g.179559623C>A | CA2649315887 | NPHS2 | c.534+56G>T (n.534+56G>T) c.357+56G>T (n.357+56G>T) c.461+56G>T (n.461+56G>T) | gnomAD v4 |
1 | g.179559623C= | CA1145814336 | NPHS2 | c.534+56G= (n.534+56G=) c.357+56G= (n.357+56G=) c.461+56G= (n.461+56G=) | |
1 | g.179559623C>T | CA33699592 | NPHS2 | c.534+56G>A (n.534+56G>A) c.357+56G>A (n.357+56G>A) c.461+56G>A (n.461+56G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.179559624G>A | CA33699607 | NPHS2 | c.534+55C>T (n.534+55C>T) c.357+55C>T (n.357+55C>T) c.461+55C>T (n.461+55C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.179559624G= | CA1143838748 | NPHS2 | c.534+55C= (n.534+55C=) c.357+55C= (n.357+55C=) c.461+55C= (n.461+55C=) | |
1 | g.179559624G>T | CA2649315890 | NPHS2 | c.534+55C>A (n.534+55C>A) c.357+55C>A (n.357+55C>A) c.461+55C>A (n.461+55C>A) | gnomAD v4 |
1 | g.179559625G>A | CA2573958910 | NPHS2 | c.534+54C>T (n.534+54C>T) c.357+54C>T (n.357+54C>T) c.461+54C>T (n.461+54C>T) | |
1 | g.179559625G>T | CA2649315891 | NPHS2 | c.534+54C>A (n.534+54C>A) c.357+54C>A (n.357+54C>A) c.461+54C>A (n.461+54C>A) | gnomAD v4 |
1 | g.179559626T>C | CA1009659977 | NPHS2 | c.534+53A>G (n.534+53A>G) c.357+53A>G (n.357+53A>G) c.461+53A>G (n.461+53A>G) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.179559626T>G | CA2649315893 | NPHS2 | c.534+53A>C (n.534+53A>C) c.357+53A>C (n.357+53A>C) c.461+53A>C (n.461+53A>C) | gnomAD v4 |
1 | g.179559626T= | CA1210320250 | NPHS2 | c.534+53A= (n.534+53A=) c.357+53A= (n.357+53A=) c.461+53A= (n.461+53A=) | |
1 | g.179559627A>T | CA2649315895 | NPHS2 | c.534+52T>A (n.534+52T>A) c.357+52T>A (n.357+52T>A) c.461+52T>A (n.461+52T>A) | gnomAD v4 |
1 | g.179559628G>A | CA2649315896 | NPHS2 | c.534+51C>T (n.534+51C>T) c.357+51C>T (n.357+51C>T) c.461+51C>T (n.461+51C>T) | gnomAD v4 |
1 | g.179559628G>C | CA1210320252 | NPHS2 | c.534+51C>G (n.534+51C>G) c.357+51C>G (n.357+51C>G) c.461+51C>G (n.461+51C>G) | dbSNP gnomAD v4 |
1 | g.179559628G= | CA1210320251 | NPHS2 | c.534+51C= (n.534+51C=) c.357+51C= (n.357+51C=) c.461+51C= (n.461+51C=) | |
1 | g.179559628G>T | CA2649315898 | NPHS2 | c.534+51C>A (n.534+51C>A) c.357+51C>A (n.357+51C>A) c.461+51C>A (n.461+51C>A) | gnomAD v4 |
1 | g.179559629G>A | CA2649315899 | NPHS2 | c.534+50C>T (n.534+50C>T) c.357+50C>T (n.357+50C>T) c.461+50C>T (n.461+50C>T) | gnomAD v4 |
1 | g.179559629G>T | CA2649315901 | NPHS2 | c.534+50C>A (n.534+50C>A) c.357+50C>A (n.357+50C>A) c.461+50C>A (n.461+50C>A) | gnomAD v4 |
1 | g.179559630T>C | CA2649315903 | NPHS2 | c.534+49A>G (n.534+49A>G) c.357+49A>G (n.357+49A>G) c.461+49A>G (n.461+49A>G) | gnomAD v4 |
1 | g.179559631A>C | CA2649315904 | NPHS2 | c.534+48T>G (n.534+48T>G) c.357+48T>G (n.357+48T>G) c.461+48T>G (n.461+48T>G) | gnomAD v4 |
1 | g.179559631A>T | CA2649315905 | NPHS2 | c.534+48T>A (n.534+48T>A) c.357+48T>A (n.357+48T>A) c.461+48T>A (n.461+48T>A) | gnomAD v4 |
1 | g.179559632G>T | CA2573958942 | NPHS2 | c.534+47C>A (n.534+47C>A) c.357+47C>A (n.357+47C>A) c.461+47C>A (n.461+47C>A) | gnomAD v4 |
1 | g.179559634_179559645del | CA2649315906 | NPHS2 | c.534+34_534+45del (n.534+34_534+45del) c.357+34_357+45del (n.357+34_357+45del) c.461+34_461+45del (n.461+34_461+45del) | gnomAD v4 |
1 | g.179559635C= | CA1210320253 | NPHS2 | c.534+44G= (n.534+44G=) c.357+44G= (n.357+44G=) c.461+44G= (n.461+44G=) | |
1 | g.179559635C>T | CA527198653 | NPHS2 | c.534+44G>A (n.534+44G>A) c.357+44G>A (n.357+44G>A) c.461+44G>A (n.461+44G>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.179559636A= | CA1210320254 | NPHS2 | c.534+43T= (n.534+43T=) c.357+43T= (n.357+43T=) c.461+43T= (n.461+43T=) | |
1 | g.179559636A>G | CA1009659985 | NPHS2 | c.534+43T>C (n.534+43T>C) c.357+43T>C (n.357+43T>C) c.461+43T>C (n.461+43T>C) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.179559637T>C | CA2573958944 | NPHS2 | c.534+42A>G (n.534+42A>G) c.357+42A>G (n.357+42A>G) c.461+42A>G (n.461+42A>G) | |
1 | g.179559638G>T | CA2649315909 | NPHS2 | c.534+41C>A (n.534+41C>A) c.357+41C>A (n.357+41C>A) c.461+41C>A (n.461+41C>A) | gnomAD v4 |
1 | g.179559639G>A | CA527198654 | NPHS2 | c.534+40C>T (n.534+40C>T) c.357+40C>T (n.357+40C>T) c.461+40C>T (n.461+40C>T) | dbSNP gnomAD v2 |
1 | g.179559639G= | CA1210320255 | NPHS2 | c.534+40C= (n.534+40C=) c.357+40C= (n.357+40C=) c.461+40C= (n.461+40C=) | |
1 | g.179559639G>T | CA2649315910 | NPHS2 | c.534+40C>A (n.534+40C>A) c.357+40C>A (n.357+40C>A) c.461+40C>A (n.461+40C>A) | gnomAD v4 |
1 | g.179559643del | CA2649315912 | NPHS2 | c.534+39del (n.534+39del) c.357+39del (n.357+39del) c.461+39del (n.461+39del) | gnomAD v4 |
1 | g.179559642A>G | CA2573958953 | NPHS2 | c.534+37T>C (n.534+37T>C) c.357+37T>C (n.357+37T>C) c.461+37T>C (n.461+37T>C) | |
1 | g.179559643A>C | CA2573959008 | NPHS2 | c.534+36T>G (n.534+36T>G) c.357+36T>G (n.357+36T>G) c.461+36T>G (n.461+36T>G) | |
1 | g.179559644T>C | CA2586967783 | NPHS2 | c.534+35A>G (n.534+35A>G) c.357+35A>G (n.357+35A>G) c.461+35A>G (n.461+35A>G) | |
1 | g.179559645G>A | CA33699614 | NPHS2 | c.534+34C>T (n.534+34C>T) c.357+34C>T (n.357+34C>T) c.461+34C>T (n.461+34C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.179559645G= | CA1210320256 | NPHS2 | c.534+34C= (n.534+34C=) c.357+34C= (n.357+34C=) c.461+34C= (n.461+34C=) | |
1 | g.179559645G>T | CA527198655 | NPHS2 | c.534+34C>A (n.534+34C>A) c.357+34C>A (n.357+34C>A) c.461+34C>A (n.461+34C>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.179559646T>C | CA33699624 | NPHS2 | c.534+33A>G (n.534+33A>G) c.357+33A>G (n.357+33A>G) c.461+33A>G (n.461+33A>G) | dbSNP gnomAD v4 |
1 | g.179559646T= | CA1210320257 | NPHS2 | c.534+33A= (n.534+33A=) c.357+33A= (n.357+33A=) c.461+33A= (n.461+33A=) | |
1 | g.179559647A= | CA1210320258 | NPHS2 | c.534+32T= (n.534+32T=) c.357+32T= (n.357+32T=) c.461+32T= (n.461+32T=) | |
1 | g.179559647A>G | CA1009659989 | NPHS2 | c.534+32T>C (n.534+32T>C) c.357+32T>C (n.357+32T>C) c.461+32T>C (n.461+32T>C) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.179559647A>T | CA2649315919 | NPHS2 | c.534+32T>A (n.534+32T>A) c.357+32T>A (n.357+32T>A) c.461+32T>A (n.461+32T>A) | gnomAD v4 |
1 | g.179559648T>C | CA1210320260 | NPHS2 | c.534+31A>G (n.534+31A>G) c.357+31A>G (n.357+31A>G) c.461+31A>G (n.461+31A>G) | dbSNP gnomAD v4 |
1 | g.179559648T= | CA1210320259 | NPHS2 | c.534+31A= (n.534+31A=) c.357+31A= (n.357+31A=) c.461+31A= (n.461+31A=) | |
1 | g.179559649_179559671del | CA2649315920 | NPHS2 | c.534+9_534+31del (n.534+9_534+31del) c.357+9_357+31del (n.357+9_357+31del) c.461+9_461+31del (n.461+9_461+31del) | gnomAD v4 |
1 | g.179559649A= | CA1210320261 | NPHS2 | c.534+30T= (n.534+30T=) c.357+30T= (n.357+30T=) c.461+30T= (n.461+30T=) | |
1 | g.179559649A>G | CA527198656 | NPHS2 | c.534+30T>C (n.534+30T>C) c.357+30T>C (n.357+30T>C) c.461+30T>C (n.461+30T>C) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.179559650G>C | CA2573959018 | NPHS2 | c.534+29C>G (n.534+29C>G) c.357+29C>G (n.357+29C>G) c.461+29C>G (n.461+29C>G) | |
1 | g.179559650G>T | CA2573959019 | NPHS2 | c.534+29C>A (n.534+29C>A) c.357+29C>A (n.357+29C>A) c.461+29C>A (n.461+29C>A) | gnomAD v4 |
1 | g.179559651A>G | CA2573959020 | NPHS2 | c.534+28T>C (n.534+28T>C) c.357+28T>C (n.357+28T>C) c.461+28T>C (n.461+28T>C) | gnomAD v4 |
1 | g.179559651A>T | CA2649315923 | NPHS2 | c.534+28T>A (n.534+28T>A) c.357+28T>A (n.357+28T>A) c.461+28T>A (n.461+28T>A) | gnomAD v4 |
1 | g.179559652G>C | CA527198657 | NPHS2 | c.534+27C>G (n.534+27C>G) c.357+27C>G (n.357+27C>G) c.461+27C>G (n.461+27C>G) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.179559652G= | CA1210320263 | NPHS2 | c.534+27C= (n.534+27C=) c.357+27C= (n.357+27C=) c.461+27C= (n.461+27C=) | |
1 | g.179559652G>T | CA2649315924 | NPHS2 | c.534+27C>A (n.534+27C>A) c.357+27C>A (n.357+27C>A) c.461+27C>A (n.461+27C>A) | gnomAD v4 |
1 | g.179559652_179559660delinsGAAAGCAAA | CA1210320262 | NPHS2 | c.534+19_534+27delinsTTTGCTTTC (n.534+19_534+27delinsTTTGCTTTC) c.357+19_357+27delinsTTTGCTTTC (n.357+19_357+27delinsTTTGCTTTC) c.461+19_461+27delinsTTTGCTTTC (n.461+19_461+27delinsTTTGCTTTC) | |
1 | g.179559654_179559661del | CA1210320264 | NPHS2 | c.534+19_534+26del (n.534+19_534+26del) c.357+19_357+26del (n.357+19_357+26del) c.461+19_461+26del (n.461+19_461+26del) | dbSNP |
1 | g.179559654A>C | CA2649315925 | NPHS2 | c.534+25T>G (n.534+25T>G) c.357+25T>G (n.357+25T>G) c.461+25T>G (n.461+25T>G) | gnomAD v4 |
1 | g.179559654A>G | CA2649315926 | NPHS2 | c.534+25T>C (n.534+25T>C) c.357+25T>C (n.357+25T>C) c.461+25T>C (n.461+25T>C) | gnomAD v4 |
1 | g.179559655A>G | CA2649315927 | NPHS2 | c.534+24T>C (n.534+24T>C) c.357+24T>C (n.357+24T>C) c.461+24T>C (n.461+24T>C) | gnomAD v4 |
1 | g.179559656G>A | CA1267194 | NPHS2 | c.534+23C>T (n.534+23C>T) c.357+23C>T (n.357+23C>T) c.461+23C>T (n.461+23C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.179559656G= | CA1210320265 | NPHS2 | c.534+23C= (n.534+23C=) c.357+23C= (n.357+23C=) c.461+23C= (n.461+23C=) | |
1 | g.179559656G>T | CA2649315928 | NPHS2 | c.534+23C>A (n.534+23C>A) c.357+23C>A (n.357+23C>A) c.461+23C>A (n.461+23C>A) | gnomAD v4 |
1 | g.179559657C>A | CA2649315929 | NPHS2 | c.534+22G>T (n.534+22G>T) c.357+22G>T (n.357+22G>T) c.461+22G>T (n.461+22G>T) | gnomAD v4 |
1 | g.179559657C>T | CA2649315930 | NPHS2 | c.534+22G>A (n.534+22G>A) c.357+22G>A (n.357+22G>A) c.461+22G>A (n.461+22G>A) | gnomAD v4 |
1 | g.179559661A>G | CA2649315931 | NPHS2 | c.534+18T>C (n.534+18T>C) c.357+18T>C (n.357+18T>C) c.461+18T>C (n.461+18T>C) | gnomAD v4 |
1 | g.179559662G>A | CA2649315933 | NPHS2 | c.534+17C>T (n.534+17C>T) c.357+17C>T (n.357+17C>T) c.461+17C>T (n.461+17C>T) | gnomAD v4 |
1 | g.179559662G>C | CA2573959025 | NPHS2 | c.534+17C>G (n.534+17C>G) c.357+17C>G (n.357+17C>G) c.461+17C>G (n.461+17C>G) | |
1 | g.179559662G>T | CA646270992 | NPHS2 | c.534+17C>A (n.534+17C>A) c.357+17C>A (n.357+17C>A) c.461+17C>A (n.461+17C>A) | gnomAD v4 COSMIC |
1 | g.179559663C>A | CA2649315934 | NPHS2 | c.534+16G>T (n.534+16G>T) c.357+16G>T (n.357+16G>T) c.461+16G>T (n.461+16G>T) | gnomAD v4 |
1 | g.179559663C= | CA1210320266 | NPHS2 | c.534+16G= (n.534+16G=) c.357+16G= (n.357+16G=) c.461+16G= (n.461+16G=) | |
1 | g.179559663C>G | CA527198659 | NPHS2 | c.534+16G>C (n.534+16G>C) c.357+16G>C (n.357+16G>C) c.461+16G>C (n.461+16G>C) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.179559663C>T | CA2649315936 | NPHS2 | c.534+16G>A (n.534+16G>A) c.357+16G>A (n.357+16G>A) c.461+16G>A (n.461+16G>A) | gnomAD v4 |
1 | g.179559664C>A | CA2649315937 | NPHS2 | c.534+15G>T (n.534+15G>T) c.357+15G>T (n.357+15G>T) c.461+15G>T (n.461+15G>T) | gnomAD v4 |
1 | g.179559664C>T | CA2649315938 | NPHS2 | c.534+15G>A (n.534+15G>A) c.357+15G>A (n.357+15G>A) c.461+15G>A (n.461+15G>A) | gnomAD v4 |
1 | g.179559665A= | CA1210320267 | NPHS2 | c.534+14T= (n.534+14T=) c.357+14T= (n.357+14T=) c.461+14T= (n.461+14T=) | |
1 | g.179559665A>G | CA2649315939 | NPHS2 | c.534+14T>C (n.534+14T>C) c.357+14T>C (n.357+14T>C) c.461+14T>C (n.461+14T>C) | gnomAD v4 |
1 | g.179559665A>T | CA1210320268 | NPHS2 | c.534+14T>A (n.534+14T>A) c.357+14T>A (n.357+14T>A) c.461+14T>A (n.461+14T>A) | dbSNP |
1 | g.179559666T>A | CA1267195 | NPHS2 | c.534+13A>T (n.534+13A>T) c.357+13A>T (n.357+13A>T) c.461+13A>T (n.461+13A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.179559666T>C | CA2649315940 | NPHS2 | c.534+13A>G (n.534+13A>G) c.357+13A>G (n.357+13A>G) c.461+13A>G (n.461+13A>G) | gnomAD v4 |
1 | g.179559666T= | CA1143299571 | NPHS2 | c.534+13A= (n.534+13A=) c.357+13A= (n.357+13A=) c.461+13A= (n.461+13A=) | |
1 | g.179559667C>A | CA2649315943 | NPHS2 | c.534+12G>T (n.534+12G>T) c.357+12G>T (n.357+12G>T) c.461+12G>T (n.461+12G>T) | gnomAD v4 |
1 | g.179559668A>G | CA2649315944 | NPHS2 | c.534+11T>C (n.534+11T>C) c.357+11T>C (n.357+11T>C) c.461+11T>C (n.461+11T>C) | gnomAD v4 |
1 | g.179559669T>C | CA2649315946 | NPHS2 | c.534+10A>G (n.534+10A>G) c.357+10A>G (n.357+10A>G) c.461+10A>G (n.461+10A>G) | gnomAD v4 |
1 | g.179559671del | CA2573131331 | NPHS2 | c.534+10del (n.534+10del) c.357+10del (n.357+10del) c.461+10del (n.461+10del) | ClinVar dbSNP gnomAD v4 |
1 | g.179559670T>C | CA2649315949 | NPHS2 | c.534+9A>G (n.534+9A>G) c.357+9A>G (n.357+9A>G) c.461+9A>G (n.461+9A>G) | gnomAD v4 |
1 | g.179559671T>C | CA2649315950 | NPHS2 | c.534+8A>G (n.534+8A>G) c.357+8A>G (n.357+8A>G) c.461+8A>G (n.461+8A>G) | gnomAD v4 |
1 | g.179559672G>T | CA2499214326 | NPHS2 | c.534+7C>A (n.534+7C>A) c.357+7C>A (n.357+7C>A) c.461+7C>A (n.461+7C>A) | ClinVar dbSNP gnomAD v4 |
1 | g.179559673G>A | CA2573959036 | NPHS2 | c.534+6C>T (n.534+6C>T) c.357+6C>T (n.357+6C>T) c.461+6C>T (n.461+6C>T) | gnomAD v4 |
1 | g.179559673G= | CA1210320269 | NPHS2 | c.534+6C= (n.534+6C=) c.357+6C= (n.357+6C=) c.461+6C= (n.461+6C=) | |
1 | g.179559673G>T | CA527198660 | NPHS2 | c.534+6C>A (n.534+6C>A) c.357+6C>A (n.357+6C>A) c.461+6C>A (n.461+6C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.179559674C>A | CA2649315953 | NPHS2 | c.534+5G>T (n.534+5G>T) c.357+5G>T (n.357+5G>T) c.461+5G>T (n.461+5G>T) | gnomAD v4 |
1 | g.179559674C= | CA1210320270 | NPHS2 | c.534+5G= (n.534+5G=) c.357+5G= (n.357+5G=) c.461+5G= (n.461+5G=) | |
1 | g.179559674C>T | CA527198662 | NPHS2 | c.534+5G>A (n.534+5G>A) c.357+5G>A (n.357+5G>A) c.461+5G>A (n.461+5G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.179559675T>C | CA2573959049 | NPHS2 | c.534+4A>G (n.534+4A>G) c.357+4A>G (n.357+4A>G) c.461+4A>G (n.461+4A>G) | |
1 | g.179559676del | CA2649315954 | NPHS2 | c.534+4del (n.534+4del) c.357+4del (n.357+4del) c.461+4del (n.461+4del) | gnomAD v4 |
1 | g.179559676T>C | CA891818139 | NPHS2 | c.534+3A>G (n.534+3A>G) c.357+3A>G (n.357+3A>G) c.461+3A>G (n.461+3A>G) | dbSNP gnomAD v4 |
1 | g.179559676T= | CA1210320271 | NPHS2 | c.534+3A= (n.534+3A=) c.357+3A= (n.357+3A=) c.461+3A= (n.461+3A=) | |
1 | g.179559677A>C | CA343568671 | NPHS2 | c.534+2T>G (n.534+2T>G) c.357+2T>G (n.357+2T>G) c.461+2T>G (n.461+2T>G) | |
1 | g.179559677A>G | CA343568673 | NPHS2 | c.534+2T>C (n.534+2T>C) c.357+2T>C (n.357+2T>C) c.461+2T>C (n.461+2T>C) | |
1 | g.179559677A>T | CA343568675 | NPHS2 | c.534+2T>A (n.534+2T>A) c.357+2T>A (n.357+2T>A) c.461+2T>A (n.461+2T>A) | |
1 | g.179559678C>A | CA343568677 | NPHS2 | c.534+1G>T (n.534+1G>T) c.357+1G>T (n.357+1G>T) c.461+1G>T (n.461+1G>T) | |
1 | g.179559678C= | CA1210320272 | NPHS2 | c.534+1G= (n.534+1G=) c.357+1G= (n.357+1G=) c.461+1G= (n.461+1G=) | |
1 | g.179559678C>G | CA343568678 | NPHS2 | c.534+1G>C (n.534+1G>C) c.357+1G>C (n.357+1G>C) c.461+1G>C (n.461+1G>C) | gnomAD v4 |
1 | g.179559678C>T | CA343568679 | NPHS2 | c.534+1G>A (n.534+1G>A) c.357+1G>A (n.357+1G>A) c.461+1G>A (n.461+1G>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.179559679C>A | CA343568682 | NPHS2 | c.534G>T (p.Glu178Asp) c.357G>T (p.Glu119Asp) c.461G>T (p.Ser154Ile) | gnomAD v4 |
1 | g.179559679C>G | CA343568683 | NPHS2 | c.534G>C (p.Glu178Asp) c.357G>C (p.Glu119Asp) c.461G>C (p.Ser154Thr) | ClinVar |
1 | g.179559679C>T | CA422025891 | NPHS2 | c.534G>A (p.Glu178=) c.357G>A (p.Glu119=) c.461G>A (p.Ser154Asn) | gnomAD v4 |
1 | g.179559680T>A | CA343568686 | NPHS2 | c.533A>T (p.Glu178Val) c.356A>T (p.Glu119Val) c.460A>T (p.Ser154Cys) | |
1 | g.179559680T>C | CA343568690 | NPHS2 | c.533A>G (p.Glu178Gly) c.356A>G (p.Glu119Gly) c.460A>G (p.Ser154Gly) | gnomAD v4 |
1 | g.179559680T>G | CA343568688 | NPHS2 | c.533A>C (p.Glu178Ala) c.356A>C (p.Glu119Ala) c.460A>C (p.Ser154Arg) | |
1 | g.179559681C>A | CA343568692 | NPHS2 | c.532G>T (p.Glu178Ter) c.355G>T (p.Glu119Ter) c.459G>T (p.Met153Ile) | gnomAD v4 |
1 | g.179559681C>G | CA343568694 | NPHS2 | c.532G>C (p.Glu178Gln) c.355G>C (p.Glu119Gln) c.459G>C (p.Met153Ile) | |
1 | g.179559681C>T | CA343568696 | NPHS2 | c.532G>A (p.Glu178Lys) c.355G>A (p.Glu119Lys) c.459G>A (p.Met153Ile) | gnomAD v4 |
1 | g.179559682A= | CA1210320273 | NPHS2 | c.531T= (p.His177=) c.354T= (p.His118=) c.458T= (p.Met153=) | |
1 | g.179559682A>C | CA343568699 | NPHS2 | c.531T>G (p.His177Gln) c.354T>G (p.His118Gln) c.458T>G (p.Met153Arg) | |
1 | g.179559682A>G | CA422025892 | NPHS2 | c.531T>C (p.His177=) c.354T>C (p.His118=) c.458T>C (p.Met153Thr) | ClinVar dbSNP gnomAD v4 |
1 | g.179559682A>T | CA343568700 | NPHS2 | c.531T>A (p.His177Gln) c.354T>A (p.His118Gln) c.458T>A (p.Met153Lys) | gnomAD v4 |
1 | g.179559682delinsCAC | CA2586967784 | NPHS2 | c.531delinsGTG (p.His177GlnfsTer5) c.531delinsGTG (p.His177GlnfsTer9) c.354delinsGTG (p.His118GlnfsTer5) c.458delinsGTG (p.Met153SerfsTer6) c.531delinsGTG (p.His177GlnfsTer?) | |
1 | g.179559683T>A | CA343568704 | NPHS2 | c.530A>T (p.His177Leu) c.353A>T (p.His118Leu) c.457A>T (p.Met153Leu) | gnomAD v4 |
1 | g.179559683T>C | CA343568706 | NPHS2 | c.530A>G (p.His177Arg) c.353A>G (p.His118Arg) c.457A>G (p.Met153Val) | |
1 | g.179559683T>G | CA343568709 | NPHS2 | c.530A>C (p.His177Pro) c.353A>C (p.His118Pro) c.457A>C (p.Met153Leu) | COSMIC |
1 | g.179559684G>A | CA343568712 | NPHS2 | c.529C>T (p.His177Tyr) c.352C>T (p.His118Tyr) c.456C>T (p.Phe152=) | |
1 | g.179559684G>C | CA343568714 | NPHS2 | c.529C>G (p.His177Asp) c.352C>G (p.His118Asp) c.456C>G (p.Phe152Leu) | |
1 | g.179559684G>T | CA343568717 | NPHS2 | c.529C>A (p.His177Asn) c.352C>A (p.His118Asn) c.456C>A (p.Phe152Leu) | gnomAD v4 |
1 | g.179559684_179559685del | CA2580061536 | NPHS2 | c.528_529del (p.Phe176LeufsTer2) c.351_352del (p.Phe117LeufsTer2) c.455_456del (p.Phe152TyrfsTer3) | ClinVar |
1 | g.179559685A= | CA1210320274 | NPHS2 | c.528T= (p.Phe176=) c.351T= (p.Phe117=) c.455T= (p.Phe152=) | |
1 | g.179559685A>C | CA343568724 | NPHS2 | c.528T>G (p.Phe176Leu) c.351T>G (p.Phe117Leu) c.455T>G (p.Phe152Cys) | |
1 | g.179559685A>G | CA422025894 | NPHS2 | c.528T>C (p.Phe176=) c.351T>C (p.Phe117=) c.455T>C (p.Phe152Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.179559685A>T | CA343568722 | NPHS2 | c.528T>A (p.Phe176Leu) c.351T>A (p.Phe117Leu) c.455T>A (p.Phe152Tyr) | |
1 | g.179559688del | CA2649315963 | NPHS2 | c.528del (p.His177MetfsTer4) c.528del (p.His177MetfsTer8) c.351del (p.His118MetfsTer4) c.455del (p.Phe152SerfsTer2) c.528del (p.His177MetfsTer?) | gnomAD v4 |
1 | g.179559686A>C | CA343568729 | NPHS2 | c.527T>G (p.Phe176Cys) c.350T>G (p.Phe117Cys) c.454T>G (p.Phe152Val) | |
1 | g.179559686A>G | CA343568731 | NPHS2 | c.527T>C (p.Phe176Ser) c.350T>C (p.Phe117Ser) c.454T>C (p.Phe152Leu) | |
1 | g.179559686A>T | CA343568733 | NPHS2 | c.527T>A (p.Phe176Tyr) c.350T>A (p.Phe117Tyr) c.454T>A (p.Phe152Ile) | |
1 | g.179559686_179559688delinsT | CA2580061537 | NPHS2 | c.525_527delinsA (p.Phe176SerfsTer2) c.348_350delinsA (p.Phe117SerfsTer2) c.452_454delinsA (p.Leu151HisfsTer4) | ClinVar |
1 | g.179559687A>C | CA343568737 | NPHS2 | c.526T>G (p.Phe176Val) c.349T>G (p.Phe117Val) c.453T>G (p.Leu151=) | |
1 | g.179559687A>G | CA343568739 | NPHS2 | c.526T>C (p.Phe176Leu) c.349T>C (p.Phe117Leu) c.453T>C (p.Leu151=) | gnomAD v4 |
1 | g.179559687A>T | CA343568742 | NPHS2 | c.526T>A (p.Phe176Ile) c.349T>A (p.Phe117Ile) c.453T>A (p.Leu151=) | |
1 | g.179559688A= | CA1210320275 | NPHS2 | c.525T= (p.Pro175=) c.348T= (p.Pro116=) c.452T= (p.Leu151=) | |
1 | g.179559688A>C | CA1267196 | NPHS2 | c.525T>G (p.Pro175=) c.348T>G (p.Pro116=) c.452T>G (p.Leu151Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.179559688A>G | CA422025902 | NPHS2 | c.525T>C (p.Pro175=) c.348T>C (p.Pro116=) c.452T>C (p.Leu151Pro) | dbSNP gnomAD v4 |
1 | g.179559688A>T | CA422025899 | NPHS2 | c.525T>A (p.Pro175=) c.348T>A (p.Pro116=) c.452T>A (p.Leu151His) | gnomAD v4 |
1 | g.179559689G>A | CA343568749 | NPHS2 | c.524C>T (p.Pro175Leu) c.347C>T (p.Pro116Leu) c.451C>T (p.Leu151Phe) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.179559689G>C | CA343568753 | NPHS2 | c.524C>G (p.Pro175Arg) c.347C>G (p.Pro116Arg) c.451C>G (p.Leu151Val) | |
1 | g.179559689G= | CA1210320276 | NPHS2 | c.524C= (p.Pro175=) c.347C= (p.Pro116=) c.451C= (p.Leu151=) | |
1 | g.179559689G>T | CA343568750 | NPHS2 | c.524C>A (p.Pro175His) c.347C>A (p.Pro116His) c.451C>A (p.Leu151Ile) | ClinVar gnomAD v4 COSMIC |
1 | g.179559689_179559691delinsACA | CA2586967785 | NPHS2 | c.522_524delinsTGT (p.Pro175Val) c.345_347delinsTGT (p.Pro116Val) c.449_451delinsTGT (p.Tyr150_Leu151delinsLeuPhe) | |
1 | g.179559690G>A | CA343568756 | NPHS2 | c.523C>T (p.Pro175Ser) c.346C>T (p.Pro116Ser) c.450C>T (p.Tyr150=) | ClinVar dbSNP gnomAD v4 |
1 | g.179559690G>C | CA343568757 | NPHS2 | c.523C>G (p.Pro175Ala) c.346C>G (p.Pro116Ala) c.450C>G (p.Tyr150Ter) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.179559690G= | CA1210320277 | NPHS2 | c.523C= (p.Pro175=) c.346C= (p.Pro116=) c.450C= (p.Tyr150=) | |
1 | g.179559690G>T | CA343568758 | NPHS2 | c.523C>A (p.Pro175Thr) c.346C>A (p.Pro116Thr) c.450C>A (p.Tyr150Ter) | ClinVar gnomAD v4 |
1 | g.179559691T>A | CA422025904 | NPHS2 | c.522A>T (p.Ile174=) c.345A>T (p.Ile115=) c.449A>T (p.Tyr150Phe) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.179559691T>C | CA343568759 | NPHS2 | c.522A>G (p.Ile174Met) c.345A>G (p.Ile115Met) c.449A>G (p.Tyr150Cys) | |
1 | g.179559691T>G | CA422025905 | NPHS2 | c.522A>C (p.Ile174=) c.345A>C (p.Ile115=) c.449A>C (p.Tyr150Ser) | |
1 | g.179559691T= | CA1210320278 | NPHS2 | c.522A= (p.Ile174=) c.345A= (p.Ile115=) c.449A= (p.Tyr150=) | |
1 | g.179559691dup | CA2499214327 | NPHS2 | c.522dup (p.Pro175ThrfsTer4) c.345dup (p.Pro116ThrfsTer4) c.449dup (p.Tyr150Ter) | ClinVar dbSNP gnomAD v4 |
1 | g.179559692A= | CA1210320279 | NPHS2 | c.521T= (p.Ile174=) c.344T= (p.Ile115=) c.448T= (p.Tyr150=) | |
1 | g.179559692A>C | CA343568761 | NPHS2 | c.521T>G (p.Ile174Arg) c.344T>G (p.Ile115Arg) c.448T>G (p.Tyr150Asp) | |
1 | g.179559692A>G | CA343568764 | NPHS2 | c.521T>C (p.Ile174Thr) c.344T>C (p.Ile115Thr) c.448T>C (p.Tyr150His) | dbSNP gnomAD v4 |
1 | g.179559692A>T | CA343568762 | NPHS2 | c.521T>A (p.Ile174Lys) c.344T>A (p.Ile115Lys) c.448T>A (p.Tyr150Asn) | |
1 | g.179559693T>A | CA343568767 | NPHS2 | c.520A>T (p.Ile174Leu) c.343A>T (p.Ile115Leu) c.447A>T (p.Arg149Ser) | gnomAD v4 |
1 | g.179559693T>C | CA343568769 | NPHS2 | c.520A>G (p.Ile174Val) c.343A>G (p.Ile115Val) c.447A>G (p.Arg149=) | |
1 | g.179559693T>G | CA343568771 | NPHS2 | c.520A>C (p.Ile174Leu) c.343A>C (p.Ile115Leu) c.447A>C (p.Arg149Ser) | |
1 | g.179559694C>A | CA343568774 | NPHS2 | c.519G>T (p.Glu173Asp) c.342G>T (p.Glu114Asp) c.446G>T (p.Arg149Ile) | gnomAD v4 |
1 | g.179559694C>G | CA343568776 | NPHS2 | c.519G>C (p.Glu173Asp) c.342G>C (p.Glu114Asp) c.446G>C (p.Arg149Thr) | |
1 | g.179559694C>T | CA422025907 | NPHS2 | c.519G>A (p.Glu173=) c.342G>A (p.Glu114=) c.446G>A (p.Arg149Lys) | COSMIC |
1 | g.179559695T>A | CA343568779 | NPHS2 | c.518A>T (p.Glu173Val) c.341A>T (p.Glu114Val) c.445A>T (p.Arg149Ter) | |
1 | g.179559695T>C | CA343568783 | NPHS2 | c.518A>G (p.Glu173Gly) c.341A>G (p.Glu114Gly) c.445A>G (p.Arg149Gly) | gnomAD v4 |
1 | g.179559695T>G | CA343568785 | NPHS2 | c.518A>C (p.Glu173Ala) c.341A>C (p.Glu114Ala) c.445A>C (p.Arg149=) | |
1 | g.179559696C>A | CA343568788 | NPHS2 | c.517G>T (p.Glu173Ter) c.340G>T (p.Glu114Ter) c.444G>T (p.Trp148Cys) | gnomAD v4 |
1 | g.179559696C>G | CA343568790 | NPHS2 | c.517G>C (p.Glu173Gln) c.340G>C (p.Glu114Gln) c.444G>C (p.Trp148Cys) | |
1 | g.179559696C>T | CA343568792 | NPHS2 | c.517G>A (p.Glu173Lys) c.340G>A (p.Glu114Lys) c.444G>A (p.Trp148Ter) | |
1 | g.179559697del | CA2649315971 | NPHS2 | c.517del (p.Glu173ArgfsTer8) c.517del (p.Glu173ArgfsTer12) c.340del (p.Glu114ArgfsTer8) c.444del (p.Trp148Ter) c.517del (p.Glu173ArgfsTer?) | gnomAD v4 |
1 | g.179559697C>A | CA422025909 | NPHS2 | c.516G>T (p.Leu172=) c.339G>T (p.Leu113=) c.443G>T (p.Trp148Leu) | gnomAD v4 |
1 | g.179559697C>G | CA422025910 | NPHS2 | c.516G>C (p.Leu172=) c.339G>C (p.Leu113=) c.443G>C (p.Trp148Ser) | gnomAD v4 |
1 | g.179559697C>T | CA422025911 | NPHS2 | c.516G>A (p.Leu172=) c.339G>A (p.Leu113=) c.443G>A (p.Trp148Ter) | gnomAD v4 |
1 | g.179559698A>C | CA343568799 | NPHS2 | c.515T>G (p.Leu172Arg) c.338T>G (p.Leu113Arg) c.442T>G (p.Trp148Gly) | |
1 | g.179559698A>G | CA343568797 | NPHS2 | c.515T>C (p.Leu172Pro) c.338T>C (p.Leu113Pro) c.442T>C (p.Trp148Arg) | gnomAD v4 |
1 | g.179559698A>T | CA343568795 | NPHS2 | c.515T>A (p.Leu172Gln) c.338T>A (p.Leu113Gln) c.442T>A (p.Trp148Arg) | |
1 | g.179559699G>A | CA422025914 | NPHS2 | c.514C>T (p.Leu172=) c.337C>T (p.Leu113=) c.441C>T (p.Leu147=) | gnomAD v4 COSMIC |
1 | g.179559699G>C | CA343568801 | NPHS2 | c.514C>G (p.Leu172Val) c.337C>G (p.Leu113Val) c.441C>G (p.Leu147=) | |
1 | g.179559699G>T | CA343568803 | NPHS2 | c.514C>A (p.Leu172Met) c.337C>A (p.Leu113Met) c.441C>A (p.Leu147=) | gnomAD v4 |
1 | g.179559700A= | CA1210320280 | NPHS2 | c.513T= (p.Thr171=) c.336T= (p.Thr112=) c.440T= (p.Leu147=) | |
1 | g.179559700A>C | CA422025917 | NPHS2 | c.513T>G (p.Thr171=) c.336T>G (p.Thr112=) c.440T>G (p.Leu147Arg) | |
1 | g.179559700A>G | CA1267197 | NPHS2 | c.513T>C (p.Thr171=) c.336T>C (p.Thr112=) c.440T>C (p.Leu147Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.179559700A>T | CA422025918 | NPHS2 | c.513T>A (p.Thr171=) c.336T>A (p.Thr112=) c.440T>A (p.Leu147His) | |
1 | g.179559701G>A | CA343568806 | NPHS2 | c.512C>T (p.Thr171Ile) c.335C>T (p.Thr112Ile) c.439C>T (p.Leu147Phe) | |
1 | g.179559701G>C | CA343568808 | NPHS2 | c.512C>G (p.Thr171Ser) c.335C>G (p.Thr112Ser) c.439C>G (p.Leu147Val) | |
1 | g.179559701G>T | CA343568810 | NPHS2 | c.512C>A (p.Thr171Asn) c.335C>A (p.Thr112Asn) c.439C>A (p.Leu147Ile) | gnomAD v4 |
1 | g.179559702T>A | CA343568811 | NPHS2 | c.511A>T (p.Thr171Ser) c.334A>T (p.Thr112Ser) c.438A>T (p.Lys146Asn) | |
1 | g.179559702T>C | CA343568814 | NPHS2 | c.511A>G (p.Thr171Ala) c.334A>G (p.Thr112Ala) c.438A>G (p.Lys146=) | |
1 | g.179559702T>G | CA343568816 | NPHS2 | c.511A>C (p.Thr171Pro) c.334A>C (p.Thr112Pro) c.438A>C (p.Lys146Asn) | |
1 | g.179559703T>A | CA343568819 | NPHS2 | c.510A>T (p.Gln170His) c.333A>T (p.Gln111His) c.437A>T (p.Lys146Ile) | |
1 | g.179559703T>C | CA422025922 | NPHS2 | c.510A>G (p.Gln170=) c.333A>G (p.Gln111=) c.437A>G (p.Lys146Arg) | gnomAD v4 |
1 | g.179559703T>G | CA343568821 | NPHS2 | c.510A>C (p.Gln170His) c.333A>C (p.Gln111His) c.437A>C (p.Lys146Thr) | gnomAD v4 |
1 | g.179559704T>A | CA343568823 | NPHS2 | c.509A>T (p.Gln170Leu) c.332A>T (p.Gln111Leu) c.436A>T (p.Lys146Ter) | |
1 | g.179559704T>C | CA343568825 | NPHS2 | c.509A>G (p.Gln170Arg) c.332A>G (p.Gln111Arg) c.436A>G (p.Lys146Glu) | |
1 | g.179559704T>G | CA33699658 | NPHS2 | c.509A>C (p.Gln170Pro) c.332A>C (p.Gln111Pro) c.436A>C (p.Lys146Gln) | dbSNP gnomAD v4 |
1 | g.179559704T= | CA1210320281 | NPHS2 | c.509A= (p.Gln170=) c.332A= (p.Gln111=) c.436A= (p.Lys146=) | |
1 | g.179559705G>A | CA343568832 | NPHS2 | c.508C>T (p.Gln170Ter) c.331C>T (p.Gln111Ter) c.435C>T (p.Ser145=) | |
1 | g.179559705G>C | CA343568830 | NPHS2 | c.508C>G (p.Gln170Glu) c.331C>G (p.Gln111Glu) c.435C>G (p.Ser145=) | |
1 | g.179559705G>T | CA343568829 | NPHS2 | c.508C>A (p.Gln170Lys) c.331C>A (p.Gln111Lys) c.435C>A (p.Ser145=) | gnomAD v4 |
1 | g.179559706G>A | CA422025926 | NPHS2 | c.507C>T (p.Leu169=) c.330C>T (p.Leu110=) c.434C>T (p.Ser145Phe) | gnomAD v4 |
1 | g.179559706G>C | CA422025924 | NPHS2 | c.507C>G (p.Leu169=) c.330C>G (p.Leu110=) c.434C>G (p.Ser145Cys) | |
1 | g.179559706G>T | CA422025925 | NPHS2 | c.507C>A (p.Leu169=) c.330C>A (p.Leu110=) c.434C>A (p.Ser145Tyr) | |
1 | g.179559707A= | CA1210320282 | NPHS2 | c.506T= (p.Leu169=) c.329T= (p.Leu110=) c.433T= (p.Ser145=) | |
1 | g.179559707A>C | CA343568835 | NPHS2 | c.506T>G (p.Leu169Arg) c.329T>G (p.Leu110Arg) c.433T>G (p.Ser145Ala) | |
1 | g.179559707A>G | CA1267198 | NPHS2 | c.506T>C (p.Leu169Pro) c.329T>C (p.Leu110Pro) c.433T>C (p.Ser145Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.179559707A>T | CA343568839 | NPHS2 | c.506T>A (p.Leu169His) c.329T>A (p.Leu110His) c.433T>A (p.Ser145Thr) | gnomAD v4 |
1 | g.179559708G>A | CA343568841 | NPHS2 | c.505C>T (p.Leu169Phe) c.328C>T (p.Leu110Phe) c.432C>T (p.Val144=) | |
1 | g.179559708G>C | CA343568843 | NPHS2 | c.505C>G (p.Leu169Val) c.328C>G (p.Leu110Val) c.432C>G (p.Val144=) | |
1 | g.179559708G>T | CA343568844 | NPHS2 | c.505C>A (p.Leu169Ile) c.328C>A (p.Leu110Ile) c.432C>A (p.Val144=) | gnomAD v4 |
1 | g.179559709A>C | CA422025928 | NPHS2 | c.504T>G (p.Arg168=) c.327T>G (p.Arg109=) c.431T>G (p.Val144Gly) | |
1 | g.179559709A>G | CA422025929 | NPHS2 | c.504T>C (p.Arg168=) c.327T>C (p.Arg109=) c.431T>C (p.Val144Ala) | ClinVar gnomAD v4 |
1 | g.179559709A>T | CA422025927 | NPHS2 | c.504T>A (p.Arg168=) c.327T>A (p.Arg109=) c.431T>A (p.Val144Asp) | |
1 | g.179559710del | CA2586967786 | NPHS2 | c.503del (p.Arg168LeufsTer13) c.503del (p.Arg168LeufsTer17) c.326del (p.Arg109LeufsTer13) c.430del (p.Val144SerfsTer10) c.503del (p.Arg168LeufsTer?) | |
1 | g.179559710C>A | CA343568846 | NPHS2 | c.503G>T (p.Arg168Leu) c.326G>T (p.Arg109Leu) c.430G>T (p.Val144Phe) | gnomAD v4 |
1 | g.179559710C= | CA1144468076 | NPHS2 | c.503G= (p.Arg168=) c.326G= (p.Arg109=) c.430G= (p.Val144=) | |
1 | g.179559710C>G | CA343568848 | NPHS2 | c.503G>C (p.Arg168Pro) c.326G>C (p.Arg109Pro) c.430G>C (p.Val144Leu) | gnomAD v4 |
1 | g.179559710C>T | CA199046 | NPHS2 | c.503G>A (p.Arg168His) c.326G>A (p.Arg109His) c.430G>A (p.Val144Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.179559711G>A | CA199102 | NPHS2 | c.502C>T (p.Arg168Cys) c.325C>T (p.Arg109Cys) c.429C>T (p.Phe143=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
1 | g.179559711G>C | CA343568852 | NPHS2 | c.502C>G (p.Arg168Gly) c.325C>G (p.Arg109Gly) c.429C>G (p.Phe143Leu) | |
1 | g.179559711G= | CA1210320283 | NPHS2 | c.502C= (p.Arg168=) c.325C= (p.Arg109=) c.429C= (p.Phe143=) | |
1 | g.179559711G>T | CA343568854 | NPHS2 | c.502C>A (p.Arg168Ser) c.325C>A (p.Arg109Ser) c.429C>A (p.Phe143Leu) | gnomAD v4 |