Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.179575524T= | CA1210326597 | NPHS2 | c.274+67A= (n.274+67A=) | |
1 | g.179575525C>T | CA2649316965 | NPHS2 | c.274+66G>A (n.274+66G>A) | gnomAD v4 |
1 | g.179575526_179575529dup | CA1210326598 | NPHS2 | c.274+63_274+66dup (n.274+63_274+66dup) | dbSNP gnomAD v4 |
1 | g.179575526C>A | CA2649316966 | NPHS2 | c.274+65G>T (n.274+65G>T) | gnomAD v4 |
1 | g.179575528C>A | CA2573958092 | NPHS2 | c.274+63G>T (n.274+63G>T) | gnomAD v4 |
1 | g.179575529C>A | CA2649316967 | NPHS2 | c.274+62G>T (n.274+62G>T) | gnomAD v4 |
1 | g.179575529C= | CA1147363095 | NPHS2 | c.274+62G= (n.274+62G=) | |
1 | g.179575529C>G | CA33653617 | NPHS2 | c.274+62G>C (n.274+62G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.179575531T>C | CA2649316968 | NPHS2 | c.274+60A>G (n.274+60A>G) | gnomAD v4 |
1 | g.179575532A= | CA1210326599 | NPHS2 | c.274+59T= (n.274+59T=) | |
1 | g.179575532A>G | CA33653622 | NPHS2 | c.274+59T>C (n.274+59T>C) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.179575532A>T | CA2649316969 | NPHS2 | c.274+59T>A (n.274+59T>A) | gnomAD v4 |
1 | g.179575534C>T | CA2649316970 | NPHS2 | c.274+57G>A (n.274+57G>A) | gnomAD v4 |
1 | g.179575537A>G | CA2649316971 | NPHS2 | c.274+54T>C (n.274+54T>C) | gnomAD v4 |
1 | g.179575538C>G | CA2649316972 | NPHS2 | c.274+53G>C (n.274+53G>C) | gnomAD v4 |
1 | g.179575538C>T | CA2573958139 | NPHS2 | c.274+53G>A (n.274+53G>A) | gnomAD v4 |
1 | g.179575539G>T | CA2649316973 | NPHS2 | c.274+52C>A (n.274+52C>A) | gnomAD v4 |
1 | g.179575540C= | CA1210326600 | NPHS2 | c.274+51G= (n.274+51G=) | |
1 | g.179575540C>G | CA891826264 | NPHS2 | c.274+51G>C (n.274+51G>C) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.179575540C>T | CA33653642 | NPHS2 | c.274+51G>A (n.274+51G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.179575541C= | CA1210326601 | NPHS2 | c.274+50G= (n.274+50G=) | |
1 | g.179575541C>T | CA891826265 | NPHS2 | c.274+50G>A (n.274+50G>A) | dbSNP |
1 | g.179575542C>A | CA2649316974 | NPHS2 | c.274+49G>T (n.274+49G>T) | gnomAD v4 |
1 | g.179575543C= | CA1210326602 | NPHS2 | c.274+48G= (n.274+48G=) | |
1 | g.179575543C>G | CA646095037 | NPHS2 | c.274+48G>C (n.274+48G>C) | COSMIC |
1 | g.179575543C>T | CA527598230 | NPHS2 | c.274+48G>A (n.274+48G>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.179575544T>C | CA2649316975 | NPHS2 | c.274+47A>G (n.274+47A>G) | gnomAD v4 |
1 | g.179575545T>A | CA2649316976 | NPHS2 | c.274+46A>T (n.274+46A>T) | gnomAD v4 |
1 | g.179575545T>C | CA1210326604 | NPHS2 | c.274+46A>G (n.274+46A>G) | dbSNP |
1 | g.179575545T= | CA1210326603 | NPHS2 | c.274+46A= (n.274+46A=) | |
1 | g.179575547G>T | CA2649316977 | NPHS2 | c.274+44C>A (n.274+44C>A) | gnomAD v4 |
1 | g.179575548T>C | CA2649316978 | NPHS2 | c.274+43A>G (n.274+43A>G) | gnomAD v4 |
1 | g.179575549T>A | CA2649316979 | NPHS2 | c.274+42A>T (n.274+42A>T) | gnomAD v4 |
1 | g.179575549T>C | CA1210326605 | NPHS2 | c.274+42A>G (n.274+42A>G) | dbSNP |
1 | g.179575549T= | CA1210326606 | NPHS2 | c.274+42A= (n.274+42A=) | |
1 | g.179575550A>G | CA2649316980 | NPHS2 | c.274+41T>C (n.274+41T>C) | gnomAD v4 |
1 | g.179575551C>A | CA2649316981 | NPHS2 | c.274+40G>T (n.274+40G>T) | gnomAD v4 |
1 | g.179575551C= | CA1210326607 | NPHS2 | c.274+40G= (n.274+40G=) | |
1 | g.179575551C>T | CA1267277 | NPHS2 | c.274+40G>A (n.274+40G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.179575552C>A | CA2649316982 | NPHS2 | c.274+39G>T (n.274+39G>T) | gnomAD v4 |
1 | g.179575552C= | CA1210326608 | NPHS2 | c.274+39G= (n.274+39G=) | |
1 | g.179575552C>T | CA527598231 | NPHS2 | c.274+39G>A (n.274+39G>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.179575554C>A | CA1210326610 | NPHS2 | c.274+37G>T (n.274+37G>T) | dbSNP |
1 | g.179575554C= | CA1210326609 | NPHS2 | c.274+37G= (n.274+37G=) | |
1 | g.179575554C>T | CA891826273 | NPHS2 | c.274+37G>A (n.274+37G>A) | dbSNP |
1 | g.179575555C>A | CA2649316983 | NPHS2 | c.274+36G>T (n.274+36G>T) | gnomAD v4 |
1 | g.179575556T>C | CA2649316984 | NPHS2 | c.274+35A>G (n.274+35A>G) | gnomAD v4 |
1 | g.179575557G>A | CA2649316985 | NPHS2 | c.274+34C>T (n.274+34C>T) | gnomAD v4 |
1 | g.179575557G= | CA1210326611 | NPHS2 | c.274+34C= (n.274+34C=) | |
1 | g.179575557G>T | CA33653675 | NPHS2 | c.274+34C>A (n.274+34C>A) | dbSNP gnomAD v4 |
1 | g.179575558G>T | CA2649316986 | NPHS2 | c.274+33C>A (n.274+33C>A) | gnomAD v4 |
1 | g.179575562del | CA2649316987 | NPHS2 | c.274+32del (n.274+32del) | gnomAD v4 |
1 | g.179575560A>G | CA2566959866 | NPHS2 | c.274+31T>C (n.274+31T>C) | gnomAD v4 |
1 | g.179575561A= | CA1210326612 | NPHS2 | c.274+30T= (n.274+30T=) | |
1 | g.179575561A>G | CA2649316988 | NPHS2 | c.274+30T>C (n.274+30T>C) | gnomAD v4 |
1 | g.179575561A>T | CA527598213 | NPHS2 | c.274+30T>A (n.274+30T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.179575562A>G | CA2649316989 | NPHS2 | c.274+29T>C (n.274+29T>C) | dbSNP gnomAD v4 |
1 | g.179575563G>C | CA891826275 | NPHS2 | c.274+28C>G (n.274+28C>G) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.179575563G= | CA1210326613 | NPHS2 | c.274+28C= (n.274+28C=) | |
1 | g.179575563G>T | CA2649316990 | NPHS2 | c.274+28C>A (n.274+28C>A) | gnomAD v4 |
1 | g.179575564T>C | CA1267278 | NPHS2 | c.274+27A>G (n.274+27A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.179575564T>G | CA2573958142 | NPHS2 | c.274+27A>C (n.274+27A>C) | |
1 | g.179575564T= | CA1144877188 | NPHS2 | c.274+27A= (n.274+27A=) | |
1 | g.179575565A= | CA1210326614 | NPHS2 | c.274+26T= (n.274+26T=) | |
1 | g.179575565A>G | CA1267279 | NPHS2 | c.274+26T>C (n.274+26T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.179575566G>T | CA2649316991 | NPHS2 | c.274+25C>A (n.274+25C>A) | gnomAD v4 |
1 | g.179575567C= | CA1210326615 | NPHS2 | c.274+24G= (n.274+24G=) | |
1 | g.179575567C>T | CA527598214 | NPHS2 | c.274+24G>A (n.274+24G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.179575568A= | CA1143805051 | NPHS2 | c.274+23T= (n.274+23T=) | |
1 | g.179575568A>C | CA1009656222 | NPHS2 | c.274+23T>G (n.274+23T>G) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.179575568A>G | CA2649316992 | NPHS2 | c.274+23T>C (n.274+23T>C) | gnomAD v4 |
1 | g.179575568A>T | CA1267280 | NPHS2 | c.274+23T>A (n.274+23T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.179575569G>A | CA527598215 | NPHS2 | c.274+22C>T (n.274+22C>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.179575569G= | CA1210326616 | NPHS2 | c.274+22C= (n.274+22C=) | |
1 | g.179575569G>T | CA2649316993 | NPHS2 | c.274+22C>A (n.274+22C>A) | gnomAD v4 |
1 | g.179575570A>C | CA2573958152 | NPHS2 | c.274+21T>G (n.274+21T>G) | |
1 | g.179575571_179575572dup | CA1210326617 | NPHS2 | c.274+20_274+21dup (n.274+20_274+21dup) | dbSNP |
1 | g.179575571T>C | CA2649316994 | NPHS2 | c.274+20A>G (n.274+20A>G) | gnomAD v4 |
1 | g.179575571T>G | CA1210326619 | NPHS2 | c.274+20A>C (n.274+20A>C) | dbSNP |
1 | g.179575571T= | CA1210326618 | NPHS2 | c.274+20A= (n.274+20A=) | |
1 | g.179575572_179575574del | CA2697554705 | NPHS2 | c.274+18_274+20del (n.274+18_274+20del) | ClinVar |
1 | g.179575572A= | CA1210326620 | NPHS2 | c.274+19T= (n.274+19T=) | |
1 | g.179575572A>G | CA1210326621 | NPHS2 | c.274+19T>C (n.274+19T>C) | ClinVar dbSNP |
1 | g.179575573G>A | CA1267281 | NPHS2 | c.274+18C>T (n.274+18C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.179575573G= | CA1148438606 | NPHS2 | c.274+18C= (n.274+18C=) | |
1 | g.179575573G>T | CA2649316995 | NPHS2 | c.274+18C>A (n.274+18C>A) | gnomAD v4 |
1 | g.179575575G>C | CA2649316996 | NPHS2 | c.274+16C>G (n.274+16C>G) | gnomAD v4 |
1 | g.179575575G>T | CA2649316997 | NPHS2 | c.274+16C>A (n.274+16C>A) | gnomAD v4 |
1 | g.179575576G>A | CA527598216 | NPHS2 | c.274+15C>T (n.274+15C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.179575576G= | CA1210326622 | NPHS2 | c.274+15C= (n.274+15C=) | |
1 | g.179575576G>T | CA2649316998 | NPHS2 | c.274+15C>A (n.274+15C>A) | gnomAD v4 |
1 | g.179575577T>C | CA1267282 | NPHS2 | c.274+14A>G (n.274+14A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.179575577T= | CA1210326623 | NPHS2 | c.274+14A= (n.274+14A=) | |
1 | g.179575578G>A | CA527598217 | NPHS2 | c.274+13C>T (n.274+13C>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.179575578G= | CA1210326624 | NPHS2 | c.274+13C= (n.274+13C=) | |
1 | g.179575578G>T | CA2649316999 | NPHS2 | c.274+13C>A (n.274+13C>A) | gnomAD v4 |
1 | g.179575579C>A | CA2697611834 | NPHS2 | c.274+12G>T (n.274+12G>T) | dbSNP |
1 | g.179575579C>T | CA2649317000 | NPHS2 | c.274+12G>A (n.274+12G>A) | gnomAD v4 |
1 | g.179575580T>C | CA2649317001 | NPHS2 | c.274+11A>G (n.274+11A>G) | gnomAD v4 |
1 | g.179575581G>A | CA2649317002 | NPHS2 | c.274+10C>T (n.274+10C>T) | gnomAD v4 |
1 | g.179575581G>T | CA2649317003 | NPHS2 | c.274+10C>A (n.274+10C>A) | gnomAD v4 |
1 | g.179575582A>G | CA645518942 | NPHS2 | c.274+9T>C (n.274+9T>C) | COSMIC |
1 | g.179575585C>A | CA2746821918 | NPHS2 | c.274+6G>T (n.274+6G>T) | |
1 | g.179575586C= | CA1210326625 | NPHS2 | c.274+5G= (n.274+5G=) | |
1 | g.179575586C>T | CA527598218 | NPHS2 | c.274+5G>A (n.274+5G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.179575587G>A | CA1267283 | NPHS2 | c.274+4C>T (n.274+4C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.179575587G= | CA1210326626 | NPHS2 | c.274+4C= (n.274+4C=) | |
1 | g.179575587G>T | CA527598219 | NPHS2 | c.274+4C>A (n.274+4C>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.179575589A>C | CA343552355 | NPHS2 | c.274+2T>G (n.274+2T>G) | |
1 | g.179575589A>G | CA343552358 | NPHS2 | c.274+2T>C (n.274+2T>C) | |
1 | g.179575589A>T | CA343552361 | NPHS2 | c.274+2T>A (n.274+2T>A) | |
1 | g.179575590C>A | CA343552379 | NPHS2 | c.274+1G>T (n.274+1G>T) | ClinVar gnomAD v4 |
1 | g.179575590C>G | CA343552383 | NPHS2 | c.274+1G>C (n.274+1G>C) | |
1 | g.179575590C>T | CA343552386 | NPHS2 | c.274+1G>A (n.274+1G>A) | |
1 | g.179575591C>A | CA117454 | NPHS2 | c.274G>T (p.Gly92Cys) | ClinVar dbSNP COSMIC |
1 | g.179575591C= | CA1140886939 | NPHS2 | c.274G= (p.Gly92=) | |
1 | g.179575591C>G | CA343552402 | NPHS2 | c.274G>C (p.Gly92Arg) | dbSNP |
1 | g.179575591C>T | CA343552395 | NPHS2 | c.274G>A (p.Gly92Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
1 | g.179575592T>A | CA343552409 | NPHS2 | c.273A>T (p.Glu91Asp) | gnomAD v4 |
1 | g.179575592T>C | CA1267284 | NPHS2 | c.273A>G (p.Glu91=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.179575592T>G | CA343552413 | NPHS2 | c.273A>C (p.Glu91Asp) | |
1 | g.179575592T= | CA1148293513 | NPHS2 | c.273A= (p.Glu91=) | |
1 | g.179575593T>A | CA343552416 | NPHS2 | c.272A>T (p.Glu91Val) | |
1 | g.179575593T>C | CA33653739 | NPHS2 | c.272A>G (p.Glu91Gly) | dbSNP |
1 | g.179575593T>G | CA343552441 | NPHS2 | c.272A>C (p.Glu91Ala) | |
1 | g.179575593T= | CA1140978631 | NPHS2 | c.272A= (p.Glu91=) | |
1 | g.179575594C>A | CA343552448 | NPHS2 | c.271G>T (p.Glu91Ter) | |
1 | g.179575594C>G | CA343552452 | NPHS2 | c.271G>C (p.Glu91Gln) | |
1 | g.179575594C>T | CA343552454 | NPHS2 | c.271G>A (p.Glu91Lys) | gnomAD v4 COSMIC |
1 | g.179575595C>A | CA343552457 | NPHS2 | c.270G>T (p.Glu90Asp) | gnomAD v4 |
1 | g.179575595C= | CA1210326627 | NPHS2 | c.270G= (p.Glu90=) | |
1 | g.179575595C>G | CA343552469 | NPHS2 | c.270G>C (p.Glu90Asp) | |
1 | g.179575595C>T | CA421995395 | NPHS2 | c.270G>A (p.Glu90=) | dbSNP gnomAD v4 |
1 | g.179575598_179575610del | CA2582342426 | NPHS2 | c.258_270del (p.Ser86ArgfsTer9) c.258_270del (p.Ser86ArgfsTer?) | ClinVar |
1 | g.179575596T>A | CA343552473 | NPHS2 | c.269A>T (p.Glu90Val) | |
1 | g.179575596T>C | CA343552478 | NPHS2 | c.269A>G (p.Glu90Gly) | |
1 | g.179575596T>G | CA343552482 | NPHS2 | c.269A>C (p.Glu90Ala) | |
1 | g.179575597C>A | CA343552494 | NPHS2 | c.268G>T (p.Glu90Ter) | |
1 | g.179575597C= | CA1210326628 | NPHS2 | c.268G= (p.Glu90=) | |
1 | g.179575597C>G | CA343552491 | NPHS2 | c.268G>C (p.Glu90Gln) | |
1 | g.179575597C>T | CA343552484 | NPHS2 | c.268G>A (p.Glu90Lys) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.179575598G>A | CA421995440 | NPHS2 | c.267C>T (p.Pro89=) | gnomAD v4 |
1 | g.179575598G>C | CA1267285 | NPHS2 | c.267C>G (p.Pro89=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.179575598G= | CA1210326629 | NPHS2 | c.267C= (p.Pro89=) | |
1 | g.179575598G>T | CA421995435 | NPHS2 | c.267C>A (p.Pro89=) | gnomAD v4 |
1 | g.179575600del | CA2649317004 | NPHS2 | c.267del (p.Glu90ArgfsTer9) c.267del (p.Glu90ArgfsTer?) | gnomAD v4 |
1 | g.179575599G>A | CA343552497 | NPHS2 | c.266C>T (p.Pro89Leu) | ClinVar gnomAD v4 COSMIC |
1 | g.179575599G>C | CA343552502 | NPHS2 | c.266C>G (p.Pro89Arg) | |
1 | g.179575599G>T | CA343552504 | NPHS2 | c.266C>A (p.Pro89His) | gnomAD v4 |
1 | g.179575600G>A | CA343552508 | NPHS2 | c.265C>T (p.Pro89Ser) | gnomAD v4 |
1 | g.179575600G>C | CA343552513 | NPHS2 | c.265C>G (p.Pro89Ala) | |
1 | g.179575600G>T | CA343552517 | NPHS2 | c.265C>A (p.Pro89Thr) | gnomAD v4 |
1 | g.179575600_179575601del | CA2586967766 | NPHS2 | c.264_265del (p.Pro89ArgfsTer13) c.264_265del (p.Pro89ArgfsTer18) | |
1 | g.179575600_179575601delinsGC | CA1210326630 | NPHS2 | c.264_265delinsGC (p.Arg88=) | |
1 | g.179575601C>A | CA421995502 | NPHS2 | c.264G>T (p.Arg88=) | gnomAD v4 |
1 | g.179575601C= | CA1210326631 | NPHS2 | c.264G= (p.Arg88=) | |
1 | g.179575601C>G | CA421995499 | NPHS2 | c.264G>C (p.Arg88=) | |
1 | g.179575601C>T | CA421995497 | NPHS2 | c.264G>A (p.Arg88=) | dbSNP gnomAD v4 |
1 | g.179575602del | CA1267286 | NPHS2 | c.264del (p.Glu90ArgfsTer9) c.264del (p.Glu90ArgfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.179575602C>A | CA343552545 | NPHS2 | c.263G>T (p.Arg88Leu) | |
1 | g.179575602C= | CA1210326632 | NPHS2 | c.263G= (p.Arg88=) | |
1 | g.179575602C>G | CA343552547 | NPHS2 | c.263G>C (p.Arg88Pro) | |
1 | g.179575602C>T | CA343552549 | NPHS2 | c.263G>A (p.Arg88Gln) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.179575603G>A | CA343552553 | NPHS2 | c.262C>T (p.Arg88Trp) | gnomAD v4 COSMIC |
1 | g.179575603G>C | CA343552555 | NPHS2 | c.262C>G (p.Arg88Gly) | gnomAD v4 |
1 | g.179575603G= | CA1210326633 | NPHS2 | c.262C= (p.Arg88=) | |
1 | g.179575603G>T | CA421995539 | NPHS2 | c.262C>A (p.Arg88=) | dbSNP gnomAD v4 |
1 | g.179575604C>A | CA343552573 | NPHS2 | c.261G>T (p.Glu87Asp) | |
1 | g.179575604C>G | CA343552557 | NPHS2 | c.261G>C (p.Glu87Asp) | |
1 | g.179575604C>T | CA421995542 | NPHS2 | c.261G>A (p.Glu87=) | gnomAD v4 |
1 | g.179575605T>A | CA343552582 | NPHS2 | c.260A>T (p.Glu87Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.179575605T>C | CA343552584 | NPHS2 | c.260A>G (p.Glu87Gly) | gnomAD v4 |
1 | g.179575605T>G | CA343552588 | NPHS2 | c.260A>C (p.Glu87Ala) | |
1 | g.179575605T= | CA1210326634 | NPHS2 | c.260A= (p.Glu87=) | |
1 | g.179575606C>A | CA343552591 | NPHS2 | c.259G>T (p.Glu87Ter) | ClinVar dbSNP gnomAD v4 |
1 | g.179575606C= | CA1210326635 | NPHS2 | c.259G= (p.Glu87=) | |
1 | g.179575606C>G | CA1267288 | NPHS2 | c.259G>C (p.Glu87Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.179575606C>T | CA1267287 | NPHS2 | c.259G>A (p.Glu87Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.179575607G>A | CA33653768 | NPHS2 | c.258C>T (p.Ser86=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.179575607G>C | CA343552605 | NPHS2 | c.258C>G (p.Ser86Arg) | gnomAD v4 |
1 | g.179575607G= | CA1210326636 | NPHS2 | c.258C= (p.Ser86=) | |
1 | g.179575607G>T | CA343552610 | NPHS2 | c.258C>A (p.Ser86Arg) | gnomAD v4 |
1 | g.179575608C>A | CA343552615 | NPHS2 | c.257G>T (p.Ser86Ile) | gnomAD v4 |
1 | g.179575608C>G | CA343552617 | NPHS2 | c.257G>C (p.Ser86Thr) | |
1 | g.179575608C>T | CA343552619 | NPHS2 | c.257G>A (p.Ser86Asn) | gnomAD v4 |
1 | g.179575609T>A | CA343552620 | NPHS2 | c.256A>T (p.Ser86Cys) | |
1 | g.179575609T>C | CA343552623 | NPHS2 | c.256A>G (p.Ser86Gly) | gnomAD v4 |
1 | g.179575609T>G | CA343552626 | NPHS2 | c.256A>C (p.Ser86Arg) | |
1 | g.179575610C>A | CA343552637 | NPHS2 | c.255G>T (p.Glu85Asp) | gnomAD v4 |
1 | g.179575610C>G | CA343552634 | NPHS2 | c.255G>C (p.Glu85Asp) | |
1 | g.179575610C>T | CA421995637 | NPHS2 | c.255G>A (p.Glu85=) | COSMIC |
1 | g.179575611T>A | CA343552649 | NPHS2 | c.254A>T (p.Glu85Val) | |
1 | g.179575611T>C | CA343552651 | NPHS2 | c.254A>G (p.Glu85Gly) | gnomAD v4 |
1 | g.179575611T>G | CA343552653 | NPHS2 | c.254A>C (p.Glu85Ala) | |
1 | g.179575612C>A | CA343552658 | NPHS2 | c.253G>T (p.Glu85Ter) | |
1 | g.179575612C= | CA1210326637 | NPHS2 | c.253G= (p.Glu85=) | |
1 | g.179575612C>G | CA343552661 | NPHS2 | c.253G>C (p.Glu85Gln) | gnomAD v4 |
1 | g.179575612C>T | CA1267289 | NPHS2 | c.253G>A (p.Glu85Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.179575613dup | CA2746821921 | NPHS2 | c.253dup (p.Glu85GlyfsTer18) c.253dup (p.Glu85GlyfsTer23) | |
1 | g.179575613C>A | CA343552669 | NPHS2 | c.252G>T (p.Leu84Phe) | |
1 | g.179575613C>G | CA343552671 | NPHS2 | c.252G>C (p.Leu84Phe) | |
1 | g.179575613C>T | CA421995657 | NPHS2 | c.252G>A (p.Leu84=) | gnomAD v4 |
1 | g.179575614A>C | CA343552673 | NPHS2 | c.251T>G (p.Leu84Trp) | |
1 | g.179575614A>G | CA343552678 | NPHS2 | c.251T>C (p.Leu84Ser) | gnomAD v4 |
1 | g.179575614A>T | CA343552682 | NPHS2 | c.251T>A (p.Leu84Ter) | |
1 | g.179575615A= | CA1210326639 | NPHS2 | c.250T= (p.Leu84=) | |
1 | g.179575615A>C | CA343552684 | NPHS2 | c.250T>G (p.Leu84Val) | dbSNP |
1 | g.179575615A>G | CA421995675 | NPHS2 | c.250T>C (p.Leu84=) | gnomAD v4 |
1 | g.179575615A>T | CA343552688 | NPHS2 | c.250T>A (p.Leu84Met) | |
1 | g.179575615_179575616delinsAC | CA1210326638 | NPHS2 | c.249_250delinsGT (p.Leu83=) | |
1 | g.179575616_179575617del | CA913071833 | NPHS2 | c.249_250del (p.Leu84GlyfsTer18) c.249_250del (p.Leu84GlyfsTer23) | |
1 | g.179575616del | CA658822855 | NPHS2 | c.249del (p.Leu84TrpfsTer15) c.249del (p.Leu84TrpfsTer?) | ClinVar dbSNP |
1 | g.179575616C>A | CA421995685 | NPHS2 | c.249G>T (p.Leu83=) | |
1 | g.179575616C= | CA1210326640 | NPHS2 | c.249G= (p.Leu83=) | |
1 | g.179575616C>G | CA421995688 | NPHS2 | c.249G>C (p.Leu83=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.179575616C>T | CA421995690 | NPHS2 | c.249G>A (p.Leu83=) | gnomAD v4 |
1 | g.179575617A>C | CA343552696 | NPHS2 | c.248T>G (p.Leu83Arg) | |
1 | g.179575617A>G | CA343552694 | NPHS2 | c.248T>C (p.Leu83Pro) | gnomAD v4 |
1 | g.179575617A>T | CA343552691 | NPHS2 | c.248T>A (p.Leu83Gln) | |
1 | g.179575618G>A | CA421995709 | NPHS2 | c.247C>T (p.Leu83=) | |
1 | g.179575618G>C | CA343552699 | NPHS2 | c.247C>G (p.Leu83Val) | |
1 | g.179575618G>T | CA343552704 | NPHS2 | c.247C>A (p.Leu83Met) | gnomAD v4 |
1 | g.179575619C>A | CA421995721 | NPHS2 | c.246G>T (p.Ala82=) | ClinVar gnomAD v4 |
1 | g.179575619C>G | CA421995726 | NPHS2 | c.246G>C (p.Ala82=) | |
1 | g.179575619C>T | CA421995725 | NPHS2 | c.246G>A (p.Ala82=) | gnomAD v4 |
1 | g.179575620G>A | CA343552715 | NPHS2 | c.245C>T (p.Ala82Val) | gnomAD v4 |
1 | g.179575620G>C | CA343552717 | NPHS2 | c.245C>G (p.Ala82Gly) | |
1 | g.179575620G>T | CA343552729 | NPHS2 | c.245C>A (p.Ala82Glu) | gnomAD v4 |
1 | g.179575621C>A | CA343552733 | NPHS2 | c.244G>T (p.Ala82Ser) | |
1 | g.179575621C= | CA1210326641 | NPHS2 | c.244G= (p.Ala82=) | |
1 | g.179575621C>G | CA343552734 | NPHS2 | c.244G>C (p.Ala82Pro) | |
1 | g.179575621C>T | CA33653779 | NPHS2 | c.244G>A (p.Ala82Thr) | dbSNP |
1 | g.179575622del | CA2580061516 | NPHS2 | c.244del (p.Ala82ArgfsTer17) c.244del (p.Ala82ArgfsTer?) | ClinVar |
1 | g.179575622C>A | CA421995742 | NPHS2 | c.243G>T (p.Val81=) | gnomAD v4 |
1 | g.179575622C>G | CA421995749 | NPHS2 | c.243G>C (p.Val81=) | |
1 | g.179575622C>T | CA421995750 | NPHS2 | c.243G>A (p.Val81=) | |
1 | g.179575623A= | CA1210326642 | NPHS2 | c.242T= (p.Val81=) | |
1 | g.179575623A>C | CA343552735 | NPHS2 | c.242T>G (p.Val81Gly) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.179575623A>G | CA343552738 | NPHS2 | c.242T>C (p.Val81Ala) | |
1 | g.179575623A>T | CA343552741 | NPHS2 | c.242T>A (p.Val81Glu) |