| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.38351215T>A | CA391933471 | SPRED1 | c.886T>A (p.Cys296Ser) c.922T>A (p.Cys308Ser) c.664T>A (p.Cys222Ser) c.823T>A (p.Cys275Ser) | ClinVar |
| 15 | g.38351215T>C | CA7470197 | SPRED1 | c.886T>C (p.Cys296Arg) c.922T>C (p.Cys308Arg) c.664T>C (p.Cys222Arg) c.823T>C (p.Cys275Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.38351215T>G | CA391933472 | SPRED1 | c.886T>G (p.Cys296Gly) c.922T>G (p.Cys308Gly) c.664T>G (p.Cys222Gly) c.823T>G (p.Cys275Gly) | |
| 15 | g.38351215T= | CA2170812617 | SPRED1 | c.886T= (p.Cys296=) c.922T= (p.Cys308=) c.664T= (p.Cys222=) c.823T= (p.Cys275=) | |
| 15 | g.38351216G>A | CA7470198 | SPRED1 | c.887G>A (p.Cys296Tyr) c.923G>A (p.Cys308Tyr) c.665G>A (p.Cys222Tyr) c.824G>A (p.Cys275Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.38351216G>C | CA391933473 | SPRED1 | c.887G>C (p.Cys296Ser) c.923G>C (p.Cys308Ser) c.665G>C (p.Cys222Ser) c.824G>C (p.Cys275Ser) | |
| 15 | g.38351216G= | CA2170812618 | SPRED1 | c.887G= (p.Cys296=) c.923G= (p.Cys308=) c.665G= (p.Cys222=) c.824G= (p.Cys275=) | |
| 15 | g.38351216G>T | CA391933474 | SPRED1 | c.887G>T (p.Cys296Phe) c.923G>T (p.Cys308Phe) c.665G>T (p.Cys222Phe) c.824G>T (p.Cys275Phe) | dbSNP gnomAD v2 |
| 15 | g.38351217T>A | CA391933476 | SPRED1 | c.888T>A (p.Cys296Ter) c.924T>A (p.Cys308Ter) c.666T>A (p.Cys222Ter) c.825T>A (p.Cys275Ter) | |
| 15 | g.38351217T>C | CA7470199 | SPRED1 | c.888T>C (p.Cys296=) c.924T>C (p.Cys308=) c.666T>C (p.Cys222=) c.825T>C (p.Cys275=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.38351217T>G | CA391933475 | SPRED1 | c.888T>G (p.Cys296Trp) c.924T>G (p.Cys308Trp) c.666T>G (p.Cys222Trp) c.825T>G (p.Cys275Trp) | |
| 15 | g.38351217T= | CA2170812619 | SPRED1 | c.888T= (p.Cys296=) c.924T= (p.Cys308=) c.666T= (p.Cys222=) c.825T= (p.Cys275=) | |
| 15 | g.38351218G>A | CA391933477 | SPRED1 | c.889G>A (p.Gly297Arg) c.925G>A (p.Gly309Arg) c.667G>A (p.Gly223Arg) c.826G>A (p.Gly276Arg) | |
| 15 | g.38351218G>C | CA391933478 | SPRED1 | c.889G>C (p.Gly297Arg) c.925G>C (p.Gly309Arg) c.667G>C (p.Gly223Arg) c.826G>C (p.Gly276Arg) | |
| 15 | g.38351218G>T | CA391933479 | SPRED1 | c.889G>T (p.Gly297Trp) c.925G>T (p.Gly309Trp) c.667G>T (p.Gly223Trp) c.826G>T (p.Gly276Trp) | |
| 15 | g.38351219G>A | CA391933480 | SPRED1 | c.890G>A (p.Gly297Glu) c.926G>A (p.Gly309Glu) c.668G>A (p.Gly223Glu) c.827G>A (p.Gly276Glu) | |
| 15 | g.38351219G>C | CA391933481 | SPRED1 | c.890G>C (p.Gly297Ala) c.926G>C (p.Gly309Ala) c.668G>C (p.Gly223Ala) c.827G>C (p.Gly276Ala) | dbSNP |
| 15 | g.38351219G= | CA2170812620 | SPRED1 | c.890G= (p.Gly297=) c.926G= (p.Gly309=) c.668G= (p.Gly223=) c.827G= (p.Gly276=) | |
| 15 | g.38351219G>T | CA391933482 | SPRED1 | c.890G>T (p.Gly297Val) c.926G>T (p.Gly309Val) c.668G>T (p.Gly223Val) c.827G>T (p.Gly276Val) | |
| 15 | g.38351220G>A | CA490011957 | SPRED1 | c.891G>A (p.Gly297=) c.927G>A (p.Gly309=) c.669G>A (p.Gly223=) c.828G>A (p.Gly276=) | |
| 15 | g.38351220G>C | CA490011958 | SPRED1 | c.891G>C (p.Gly297=) c.927G>C (p.Gly309=) c.669G>C (p.Gly223=) c.828G>C (p.Gly276=) | |
| 15 | g.38351220G>T | CA490011959 | SPRED1 | c.891G>T (p.Gly297=) c.927G>T (p.Gly309=) c.669G>T (p.Gly223=) c.828G>T (p.Gly276=) | |
| 15 | g.38351221G>A | CA391933483 | SPRED1 | c.892G>A (p.Asp298Asn) c.928G>A (p.Asp310Asn) c.670G>A (p.Asp224Asn) c.829G>A (p.Asp277Asn) | gnomAD v4 |
| 15 | g.38351221G>C | CA7470200 | SPRED1 | c.892G>C (p.Asp298His) c.928G>C (p.Asp310His) c.670G>C (p.Asp224His) c.829G>C (p.Asp277His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.38351221G= | CA2170812621 | SPRED1 | c.892G= (p.Asp298=) c.928G= (p.Asp310=) c.670G= (p.Asp224=) c.829G= (p.Asp277=) | |
| 15 | g.38351221G>T | CA391933484 | SPRED1 | c.892G>T (p.Asp298Tyr) c.928G>T (p.Asp310Tyr) c.670G>T (p.Asp224Tyr) c.829G>T (p.Asp277Tyr) | gnomAD v4 |
| 15 | g.38351222A>C | CA391933485 | SPRED1 | c.893A>C (p.Asp298Ala) c.929A>C (p.Asp310Ala) c.671A>C (p.Asp224Ala) c.830A>C (p.Asp277Ala) | |
| 15 | g.38351222A>G | CA391933486 | SPRED1 | c.893A>G (p.Asp298Gly) c.929A>G (p.Asp310Gly) c.671A>G (p.Asp224Gly) c.830A>G (p.Asp277Gly) | ClinVar |
| 15 | g.38351222A>T | CA391933487 | SPRED1 | c.893A>T (p.Asp298Val) c.929A>T (p.Asp310Val) c.671A>T (p.Asp224Val) c.830A>T (p.Asp277Val) | |
| 15 | g.38351223T>A | CA391933488 | SPRED1 | c.894T>A (p.Asp298Glu) c.930T>A (p.Asp310Glu) c.672T>A (p.Asp224Glu) c.831T>A (p.Asp277Glu) | |
| 15 | g.38351223T>C | CA490011963 | SPRED1 | c.894T>C (p.Asp298=) c.930T>C (p.Asp310=) c.672T>C (p.Asp224=) c.831T>C (p.Asp277=) | |
| 15 | g.38351223T>G | CA391933489 | SPRED1 | c.894T>G (p.Asp298Glu) c.930T>G (p.Asp310Glu) c.672T>G (p.Asp224Glu) c.831T>G (p.Asp277Glu) | |
| 15 | g.38351224G>A | CA391933492 | SPRED1 | c.895G>A (p.Glu299Lys) c.931G>A (p.Glu311Lys) c.673G>A (p.Glu225Lys) c.832G>A (p.Glu278Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.38351224G>C | CA391933491 | SPRED1 | c.895G>C (p.Glu299Gln) c.931G>C (p.Glu311Gln) c.673G>C (p.Glu225Gln) c.832G>C (p.Glu278Gln) | |
| 15 | g.38351224G= | CA2170812622 | SPRED1 | c.895G= (p.Glu299=) c.931G= (p.Glu311=) c.673G= (p.Glu225=) c.832G= (p.Glu278=) | |
| 15 | g.38351224G>T | CA391933490 | SPRED1 | c.895G>T (p.Glu299Ter) c.931G>T (p.Glu311Ter) c.673G>T (p.Glu225Ter) c.832G>T (p.Glu278Ter) | |
| 15 | g.38351225A>C | CA391933493 | SPRED1 | c.896A>C (p.Glu299Ala) c.932A>C (p.Glu311Ala) c.674A>C (p.Glu225Ala) c.833A>C (p.Glu278Ala) | ClinVar |
| 15 | g.38351225A>G | CA391933494 | SPRED1 | c.896A>G (p.Glu299Gly) c.932A>G (p.Glu311Gly) c.674A>G (p.Glu225Gly) c.833A>G (p.Glu278Gly) | |
| 15 | g.38351225A>T | CA391933495 | SPRED1 | c.896A>T (p.Glu299Val) c.932A>T (p.Glu311Val) c.674A>T (p.Glu225Val) c.833A>T (p.Glu278Val) | |
| 15 | g.38351226G>A | CA490011976 | SPRED1 | c.897G>A (p.Glu299=) c.933G>A (p.Glu311=) c.675G>A (p.Glu225=) c.834G>A (p.Glu278=) | |
| 15 | g.38351226G>C | CA391933496 | SPRED1 | c.897G>C (p.Glu299Asp) c.933G>C (p.Glu311Asp) c.675G>C (p.Glu225Asp) c.834G>C (p.Glu278Asp) | |
| 15 | g.38351226G>T | CA391933497 | SPRED1 | c.897G>T (p.Glu299Asp) c.933G>T (p.Glu311Asp) c.675G>T (p.Glu225Asp) c.834G>T (p.Glu278Asp) | |
| 15 | g.38351227A= | CA2170812623 | SPRED1 | c.898A= (p.Thr300=) c.934A= (p.Thr312=) c.676A= (p.Thr226=) c.835A= (p.Thr279=) | |
| 15 | g.38351227A>C | CA391933498 | SPRED1 | c.898A>C (p.Thr300Pro) c.934A>C (p.Thr312Pro) c.676A>C (p.Thr226Pro) c.835A>C (p.Thr279Pro) | |
| 15 | g.38351227A>G | CA391933499 | SPRED1 | c.898A>G (p.Thr300Ala) c.934A>G (p.Thr312Ala) c.676A>G (p.Thr226Ala) c.835A>G (p.Thr279Ala) | ClinVar dbSNP |
| 15 | g.38351227A>T | CA391933500 | SPRED1 | c.898A>T (p.Thr300Ser) c.934A>T (p.Thr312Ser) c.676A>T (p.Thr226Ser) c.835A>T (p.Thr279Ser) | |
| 15 | g.38351228C>A | CA391933501 | SPRED1 | c.899C>A (p.Thr300Asn) c.935C>A (p.Thr312Asn) c.677C>A (p.Thr226Asn) c.836C>A (p.Thr279Asn) | |
| 15 | g.38351228C= | CA2170812624 | SPRED1 | c.899C= (p.Thr300=) c.935C= (p.Thr312=) c.677C= (p.Thr226=) c.836C= (p.Thr279=) | |
| 15 | g.38351228C>G | CA7470201 | SPRED1 | c.899C>G (p.Thr300Ser) c.935C>G (p.Thr312Ser) c.677C>G (p.Thr226Ser) c.836C>G (p.Thr279Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.38351228C>T | CA391933502 | SPRED1 | c.899C>T (p.Thr300Ile) c.935C>T (p.Thr312Ile) c.677C>T (p.Thr226Ile) c.836C>T (p.Thr279Ile) | |
| 15 | g.38351228_38351233delinsCTAAGT | CA2170812625 | SPRED1 | c.899_904delinsCTAAGT (p.Thr300=) c.935_940delinsCTAAGT (p.Thr312=) c.677_682delinsCTAAGT (p.Thr226=) c.836_841delinsCTAAGT (p.Thr279=) | |
| 15 | g.38351229T>A | CA490011982 | SPRED1 | c.900T>A (p.Thr300=) c.936T>A (p.Thr312=) c.678T>A (p.Thr226=) c.837T>A (p.Thr279=) | |
| 15 | g.38351229T>C | CA490011984 | SPRED1 | c.900T>C (p.Thr300=) c.936T>C (p.Thr312=) c.678T>C (p.Thr226=) c.837T>C (p.Thr279=) | |
| 15 | g.38351229T>G | CA490011983 | SPRED1 | c.900T>G (p.Thr300=) c.936T>G (p.Thr312=) c.678T>G (p.Thr226=) c.837T>G (p.Thr279=) | |
| 15 | g.38351229dup | CA915946530 | SPRED1 | c.900dup (p.Lys301Ter) c.936dup (p.Lys313Ter) c.678dup (p.Lys227Ter) c.837dup (p.Lys280Ter) | ClinVar dbSNP |
| 15 | g.38351235_38351239del | CA915946529 | SPRED1 | c.906_910del (p.Leu302PhefsTer9) c.942_946del (p.Leu314PhefsTer9) c.684_688del (p.Leu228PhefsTer9) c.843_847del (p.Leu281PhefsTer9) | ClinVar dbSNP |
| 15 | g.38351230A>C | CA391933503 | SPRED1 | c.901A>C (p.Lys301Gln) c.937A>C (p.Lys313Gln) c.679A>C (p.Lys227Gln) c.838A>C (p.Lys280Gln) | |
| 15 | g.38351230A>G | CA391933504 | SPRED1 | c.901A>G (p.Lys301Glu) c.937A>G (p.Lys313Glu) c.679A>G (p.Lys227Glu) c.838A>G (p.Lys280Glu) | |
| 15 | g.38351230A>T | CA391933505 | SPRED1 | c.901A>T (p.Lys301Ter) c.937A>T (p.Lys313Ter) c.679A>T (p.Lys227Ter) c.838A>T (p.Lys280Ter) | |
| 15 | g.38351230_38351234delinsAAGTT | CA2170812626 | SPRED1 | c.901_905delinsAAGTT (p.Lys301=) c.937_941delinsAAGTT (p.Lys313=) c.679_683delinsAAGTT (p.Lys227=) c.838_842delinsAAGTT (p.Lys280=) | |
| 15 | g.38351231A>C | CA391933508 | SPRED1 | c.902A>C (p.Lys301Thr) c.938A>C (p.Lys313Thr) c.680A>C (p.Lys227Thr) c.839A>C (p.Lys280Thr) | ClinVar |
| 15 | g.38351231A>G | CA391933507 | SPRED1 | c.902A>G (p.Lys301Arg) c.938A>G (p.Lys313Arg) c.680A>G (p.Lys227Arg) c.839A>G (p.Lys280Arg) | |
| 15 | g.38351231A>T | CA391933506 | SPRED1 | c.902A>T (p.Lys301Met) c.938A>T (p.Lys313Met) c.680A>T (p.Lys227Met) c.839A>T (p.Lys280Met) | |
| 15 | g.38351232_38351235del | CA915946531 | SPRED1 | c.903_906del (p.Leu302ValfsTer16) c.939_942del (p.Leu314ValfsTer16) c.681_684del (p.Leu228ValfsTer16) c.840_843del (p.Leu281ValfsTer16) | ClinVar dbSNP |
| 15 | g.38351232G>A | CA490011988 | SPRED1 | c.903G>A (p.Lys301=) c.939G>A (p.Lys313=) c.681G>A (p.Lys227=) c.840G>A (p.Lys280=) | |
| 15 | g.38351232G>C | CA391933509 | SPRED1 | c.903G>C (p.Lys301Asn) c.939G>C (p.Lys313Asn) c.681G>C (p.Lys227Asn) c.840G>C (p.Lys280Asn) | |
| 15 | g.38351232G>T | CA391933510 | SPRED1 | c.903G>T (p.Lys301Asn) c.939G>T (p.Lys313Asn) c.681G>T (p.Lys227Asn) c.840G>T (p.Lys280Asn) | |
| 15 | g.38351233T>A | CA391933511 | SPRED1 | c.904T>A (p.Leu302Ile) c.940T>A (p.Leu314Ile) c.682T>A (p.Leu228Ile) c.841T>A (p.Leu281Ile) | |
| 15 | g.38351233T>C | CA490011998 | SPRED1 | c.904T>C (p.Leu302=) c.940T>C (p.Leu314=) c.682T>C (p.Leu228=) c.841T>C (p.Leu281=) | |
| 15 | g.38351233T>G | CA391933512 | SPRED1 | c.904T>G (p.Leu302Val) c.940T>G (p.Leu314Val) c.682T>G (p.Leu228Val) c.841T>G (p.Leu281Val) | |
| 15 | g.38351234T>A | CA391933513 | SPRED1 | c.905T>A (p.Leu302Ter) c.941T>A (p.Leu314Ter) c.683T>A (p.Leu228Ter) c.842T>A (p.Leu281Ter) | |
| 15 | g.38351234T>C | CA391933514 | SPRED1 | c.905T>C (p.Leu302Ser) c.941T>C (p.Leu314Ser) c.683T>C (p.Leu228Ser) c.842T>C (p.Leu281Ser) | |
| 15 | g.38351234T>G | CA391933515 | SPRED1 | c.905T>G (p.Leu302Ter) c.941T>G (p.Leu314Ter) c.683T>G (p.Leu228Ter) c.842T>G (p.Leu281Ter) | |
| 15 | g.38351235A= | CA2170812627 | SPRED1 | c.906A= (p.Leu302=) c.942A= (p.Leu314=) c.684A= (p.Leu228=) c.843A= (p.Leu281=) | |
| 15 | g.38351235A>C | CA391933516 | SPRED1 | c.906A>C (p.Leu302Phe) c.942A>C (p.Leu314Phe) c.684A>C (p.Leu228Phe) c.843A>C (p.Leu281Phe) | gnomAD v4 |
| 15 | g.38351235A>G | CA7470202 | SPRED1 | c.906A>G (p.Leu302=) c.942A>G (p.Leu314=) c.684A>G (p.Leu228=) c.843A>G (p.Leu281=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.38351235A>T | CA391933517 | SPRED1 | c.906A>T (p.Leu302Phe) c.942A>T (p.Leu314Phe) c.684A>T (p.Leu228Phe) c.843A>T (p.Leu281Phe) | |
| 15 | g.38351236A>C | CA391933518 | SPRED1 | c.907A>C (p.Ser303Arg) c.943A>C (p.Ser315Arg) c.685A>C (p.Ser229Arg) c.844A>C (p.Ser282Arg) | ClinVar dbSNP |
| 15 | g.38351236A>G | CA391933519 | SPRED1 | c.907A>G (p.Ser303Gly) c.943A>G (p.Ser315Gly) c.685A>G (p.Ser229Gly) c.844A>G (p.Ser282Gly) | gnomAD v4 |
| 15 | g.38351236A>T | CA391933520 | SPRED1 | c.907A>T (p.Ser303Cys) c.943A>T (p.Ser315Cys) c.685A>T (p.Ser229Cys) c.844A>T (p.Ser282Cys) | |
| 15 | g.38351237G>A | CA391933521 | SPRED1 | c.908G>A (p.Ser303Asn) c.944G>A (p.Ser315Asn) c.686G>A (p.Ser229Asn) c.845G>A (p.Ser282Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.38351237G>C | CA391933522 | SPRED1 | c.908G>C (p.Ser303Thr) c.944G>C (p.Ser315Thr) c.686G>C (p.Ser229Thr) c.845G>C (p.Ser282Thr) | |
| 15 | g.38351237G= | CA2170812628 | SPRED1 | c.908G= (p.Ser303=) c.944G= (p.Ser315=) c.686G= (p.Ser229=) c.845G= (p.Ser282=) | |
| 15 | g.38351237G>T | CA391933523 | SPRED1 | c.908G>T (p.Ser303Ile) c.944G>T (p.Ser315Ile) c.686G>T (p.Ser229Ile) c.845G>T (p.Ser282Ile) | |
| 15 | g.38351238T>A | CA391933525 | SPRED1 | c.909T>A (p.Ser303Arg) c.945T>A (p.Ser315Arg) c.687T>A (p.Ser229Arg) c.846T>A (p.Ser282Arg) | |
| 15 | g.38351238T>C | CA490012011 | SPRED1 | c.909T>C (p.Ser303=) c.945T>C (p.Ser315=) c.687T>C (p.Ser229=) c.846T>C (p.Ser282=) | |
| 15 | g.38351238T>G | CA391933524 | SPRED1 | c.909T>G (p.Ser303Arg) c.945T>G (p.Ser315Arg) c.687T>G (p.Ser229Arg) c.846T>G (p.Ser282Arg) | |
| 15 | g.38351239T>A | CA391933526 | SPRED1 | c.910T>A (p.Ser304Thr) c.946T>A (p.Ser316Thr) c.688T>A (p.Ser230Thr) c.847T>A (p.Ser283Thr) | |
| 15 | g.38351239T>C | CA391933527 | SPRED1 | c.910T>C (p.Ser304Pro) c.946T>C (p.Ser316Pro) c.688T>C (p.Ser230Pro) c.847T>C (p.Ser283Pro) | |
| 15 | g.38351239T>G | CA391933528 | SPRED1 | c.910T>G (p.Ser304Ala) c.946T>G (p.Ser316Ala) c.688T>G (p.Ser230Ala) c.847T>G (p.Ser283Ala) | |
| 15 | g.38351240C>A | CA391933529 | SPRED1 | c.911C>A (p.Ser304Ter) c.947C>A (p.Ser316Ter) c.689C>A (p.Ser230Ter) c.848C>A (p.Ser283Ter) | |
| 15 | g.38351240C>G | CA391933530 | SPRED1 | c.911C>G (p.Ser304Ter) c.947C>G (p.Ser316Ter) c.689C>G (p.Ser230Ter) c.848C>G (p.Ser283Ter) | |
| 15 | g.38351240C>T | CA391933531 | SPRED1 | c.911C>T (p.Ser304Leu) c.947C>T (p.Ser316Leu) c.689C>T (p.Ser230Leu) c.848C>T (p.Ser283Leu) | |
| 15 | g.38351241A>C | CA490012201 | SPRED1 | c.912A>C (p.Ser304=) c.948A>C (p.Ser316=) c.690A>C (p.Ser230=) c.849A>C (p.Ser283=) | |
| 15 | g.38351241A>G | CA490012202 | SPRED1 | c.912A>G (p.Ser304=) c.948A>G (p.Ser316=) c.690A>G (p.Ser230=) c.849A>G (p.Ser283=) | ClinVar dbSNP |
| 15 | g.38351241A>T | CA490012205 | SPRED1 | c.912A>T (p.Ser304=) c.948A>T (p.Ser316=) c.690A>T (p.Ser230=) c.849A>T (p.Ser283=) | |
| 15 | g.38351242C>A | CA391933532 | SPRED1 | c.913C>A (p.Pro305Thr) c.949C>A (p.Pro317Thr) c.691C>A (p.Pro231Thr) c.850C>A (p.Pro284Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.38351242C= | CA2170812629 | SPRED1 | c.913C= (p.Pro305=) c.949C= (p.Pro317=) c.691C= (p.Pro231=) c.850C= (p.Pro284=) | |
| 15 | g.38351242C>G | CA391933533 | SPRED1 | c.913C>G (p.Pro305Ala) c.949C>G (p.Pro317Ala) c.691C>G (p.Pro231Ala) c.850C>G (p.Pro284Ala) | |
| 15 | g.38351242C>T | CA391933534 | SPRED1 | c.913C>T (p.Pro305Ser) c.949C>T (p.Pro317Ser) c.691C>T (p.Pro231Ser) c.850C>T (p.Pro284Ser) | gnomAD v4 |
| 15 | g.38351243C>A | CA391933535 | SPRED1 | c.914C>A (p.Pro305His) c.950C>A (p.Pro317His) c.692C>A (p.Pro231His) c.851C>A (p.Pro284His) | gnomAD v4 |
| 15 | g.38351243C= | CA2170812630 | SPRED1 | c.914C= (p.Pro305=) c.950C= (p.Pro317=) c.692C= (p.Pro231=) c.851C= (p.Pro284=) | |
| 15 | g.38351243C>G | CA269293449 | SPRED1 | c.914C>G (p.Pro305Arg) c.950C>G (p.Pro317Arg) c.692C>G (p.Pro231Arg) c.851C>G (p.Pro284Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.38351243C>T | CA391933536 | SPRED1 | c.914C>T (p.Pro305Leu) c.950C>T (p.Pro317Leu) c.692C>T (p.Pro231Leu) c.851C>T (p.Pro284Leu) | |
| 15 | g.38351244C>A | CA490012214 | SPRED1 | c.915C>A (p.Pro305=) c.951C>A (p.Pro317=) c.693C>A (p.Pro231=) c.852C>A (p.Pro284=) | |
| 15 | g.38351244C>G | CA490012216 | SPRED1 | c.915C>G (p.Pro305=) c.951C>G (p.Pro317=) c.693C>G (p.Pro231=) c.852C>G (p.Pro284=) | ClinVar dbSNP |
| 15 | g.38351244C>T | CA490012217 | SPRED1 | c.915C>T (p.Pro305=) c.951C>T (p.Pro317=) c.693C>T (p.Pro231=) c.852C>T (p.Pro284=) | |
| 15 | g.38351245A= | CA2170812631 | SPRED1 | c.916A= (p.Lys306=) c.952A= (p.Lys318=) c.694A= (p.Lys232=) c.853A= (p.Lys285=) | |
| 15 | g.38351245A>C | CA391933539 | SPRED1 | c.916A>C (p.Lys306Gln) c.952A>C (p.Lys318Gln) c.694A>C (p.Lys232Gln) c.853A>C (p.Lys285Gln) | |
| 15 | g.38351245A>G | CA391933538 | SPRED1 | c.916A>G (p.Lys306Glu) c.952A>G (p.Lys318Glu) c.694A>G (p.Lys232Glu) c.853A>G (p.Lys285Glu) | ClinVar dbSNP gnomAD v4 |
| 15 | g.38351245A>T | CA391933537 | SPRED1 | c.916A>T (p.Lys306Ter) c.952A>T (p.Lys318Ter) c.694A>T (p.Lys232Ter) c.853A>T (p.Lys285Ter) | ClinVar dbSNP |
| 15 | g.38351246A= | CA2170812632 | SPRED1 | c.917A= (p.Lys306=) c.953A= (p.Lys318=) c.695A= (p.Lys232=) c.854A= (p.Lys285=) | |
| 15 | g.38351246A>C | CA391933540 | SPRED1 | c.917A>C (p.Lys306Thr) c.953A>C (p.Lys318Thr) c.695A>C (p.Lys232Thr) c.854A>C (p.Lys285Thr) | |
| 15 | g.38351246A>G | CA391933541 | SPRED1 | c.917A>G (p.Lys306Arg) c.953A>G (p.Lys318Arg) c.695A>G (p.Lys232Arg) c.854A>G (p.Lys285Arg) | ClinVar dbSNP |
| 15 | g.38351246A>T | CA391933542 | SPRED1 | c.917A>T (p.Lys306Ile) c.953A>T (p.Lys318Ile) c.695A>T (p.Lys232Ile) c.854A>T (p.Lys285Ile) | |
| 15 | g.38351247A>C | CA391933543 | SPRED1 | c.918A>C (p.Lys306Asn) c.954A>C (p.Lys318Asn) c.696A>C (p.Lys232Asn) c.855A>C (p.Lys285Asn) | |
| 15 | g.38351247A>G | CA490012225 | SPRED1 | c.918A>G (p.Lys306=) c.954A>G (p.Lys318=) c.696A>G (p.Lys232=) c.855A>G (p.Lys285=) | |
| 15 | g.38351247A>T | CA391933544 | SPRED1 | c.918A>T (p.Lys306Asn) c.954A>T (p.Lys318Asn) c.696A>T (p.Lys232Asn) c.855A>T (p.Lys285Asn) | |
| 15 | g.38351248G>A | CA391933545 | SPRED1 | c.919G>A (p.Asp307Asn) c.955G>A (p.Asp319Asn) c.697G>A (p.Asp233Asn) c.856G>A (p.Asp286Asn) | |
| 15 | g.38351248G>C | CA391933546 | SPRED1 | c.919G>C (p.Asp307His) c.955G>C (p.Asp319His) c.697G>C (p.Asp233His) c.856G>C (p.Asp286His) | |
| 15 | g.38351248G>T | CA391933547 | SPRED1 | c.919G>T (p.Asp307Tyr) c.955G>T (p.Asp319Tyr) c.697G>T (p.Asp233Tyr) c.856G>T (p.Asp286Tyr) | |
| 15 | g.38351249A= | CA2170812633 | SPRED1 | c.920A= (p.Asp307=) c.956A= (p.Asp319=) c.698A= (p.Asp233=) c.857A= (p.Asp286=) | |
| 15 | g.38351249A>C | CA391933548 | SPRED1 | c.920A>C (p.Asp307Ala) c.956A>C (p.Asp319Ala) c.698A>C (p.Asp233Ala) c.857A>C (p.Asp286Ala) | |
| 15 | g.38351249A>G | CA7470203 | SPRED1 | c.920A>G (p.Asp307Gly) c.956A>G (p.Asp319Gly) c.698A>G (p.Asp233Gly) c.857A>G (p.Asp286Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.38351249A>T | CA391933549 | SPRED1 | c.920A>T (p.Asp307Val) c.956A>T (p.Asp319Val) c.698A>T (p.Asp233Val) c.857A>T (p.Asp286Val) | |
| 15 | g.38351249_38351251delinsACT | CA2170812634 | SPRED1 | c.920_922delinsACT (p.Asp307=) c.956_958delinsACT (p.Asp319=) c.698_700delinsACT (p.Asp233=) c.857_859delinsACT (p.Asp286=) | |
| 15 | g.38351250C>A | CA391933550 | SPRED1 | c.921C>A (p.Asp307Glu) c.957C>A (p.Asp319Glu) c.699C>A (p.Asp233Glu) c.858C>A (p.Asp286Glu) | |
| 15 | g.38351250C>G | CA391933551 | SPRED1 | c.921C>G (p.Asp307Glu) c.957C>G (p.Asp319Glu) c.699C>G (p.Asp233Glu) c.858C>G (p.Asp286Glu) | |
| 15 | g.38351250C>T | CA490012234 | SPRED1 | c.921C>T (p.Asp307=) c.957C>T (p.Asp319=) c.699C>T (p.Asp233=) c.858C>T (p.Asp286=) | |
| 15 | g.38351252_38351253del | CA658658281 | SPRED1 | c.923_924del (p.Ser308CysfsTer4) c.959_960del (p.Ser320CysfsTer4) c.701_702del (p.Ser234CysfsTer4) c.860_861del (p.Ser287CysfsTer4) | ClinVar dbSNP |
| 15 | g.38351251T>A | CA7470205 | SPRED1 | c.922T>A (p.Ser308Thr) c.958T>A (p.Ser320Thr) c.700T>A (p.Ser234Thr) c.859T>A (p.Ser287Thr) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 15 | g.38351251T>C | CA391933552 | SPRED1 | c.922T>C (p.Ser308Pro) c.958T>C (p.Ser320Pro) c.700T>C (p.Ser234Pro) c.859T>C (p.Ser287Pro) | dbSNP |
| 15 | g.38351251T>G | CA7470204 | SPRED1 | c.922T>G (p.Ser308Ala) c.958T>G (p.Ser320Ala) c.700T>G (p.Ser234Ala) c.859T>G (p.Ser287Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.38351251T= | CA2170812635 | SPRED1 | c.922T= (p.Ser308=) c.958T= (p.Ser320=) c.700T= (p.Ser234=) c.859T= (p.Ser287=) | |
| 15 | g.38351253_38351276del | CA2627716206 | SPRED1 | c.924_947del (p.Val309_Ser316del) c.960_983del (p.Val321_Ser328del) c.702_725del (p.Val235_Ser242del) c.861_884del (p.Val288_Ser295del) | gnomAD v4 |
| 15 | g.38351252C>A | CA391933553 | SPRED1 | c.923C>A (p.Ser308Tyr) c.959C>A (p.Ser320Tyr) c.701C>A (p.Ser234Tyr) c.860C>A (p.Ser287Tyr) | |
| 15 | g.38351252C>G | CA391933554 | SPRED1 | c.923C>G (p.Ser308Cys) c.959C>G (p.Ser320Cys) c.701C>G (p.Ser234Cys) c.860C>G (p.Ser287Cys) | |
| 15 | g.38351252C>T | CA391933555 | SPRED1 | c.923C>T (p.Ser308Phe) c.959C>T (p.Ser320Phe) c.701C>T (p.Ser234Phe) c.860C>T (p.Ser287Phe) | gnomAD v4 |
| 15 | g.38351253T>A | CA490012241 | SPRED1 | c.924T>A (p.Ser308=) c.960T>A (p.Ser320=) c.702T>A (p.Ser234=) c.861T>A (p.Ser287=) | |
| 15 | g.38351253T>C | CA490012243 | SPRED1 | c.924T>C (p.Ser308=) c.960T>C (p.Ser320=) c.702T>C (p.Ser234=) c.861T>C (p.Ser287=) | |
| 15 | g.38351253T>G | CA490012246 | SPRED1 | c.924T>G (p.Ser308=) c.960T>G (p.Ser320=) c.702T>G (p.Ser234=) c.861T>G (p.Ser287=) | |
| 15 | g.38351255_38351256del | CA2580613792 | SPRED1 | c.926_927del (p.Val309GlyfsTer3) c.962_963del (p.Val321GlyfsTer3) c.704_705del (p.Val235GlyfsTer3) c.863_864del (p.Val288GlyfsTer3) | ClinVar dbSNP gnomAD v4 |
| 15 | g.38351254G>A | CA391933556 | SPRED1 | c.925G>A (p.Val309Met) c.961G>A (p.Val321Met) c.703G>A (p.Val235Met) c.862G>A (p.Val288Met) | |
| 15 | g.38351254G>C | CA391933557 | SPRED1 | c.925G>C (p.Val309Leu) c.961G>C (p.Val321Leu) c.703G>C (p.Val235Leu) c.862G>C (p.Val288Leu) | gnomAD v4 |
| 15 | g.38351254G>T | CA391933558 | SPRED1 | c.925G>T (p.Val309Leu) c.961G>T (p.Val321Leu) c.703G>T (p.Val235Leu) c.862G>T (p.Val288Leu) | |
| 15 | g.38351255T>A | CA391933559 | SPRED1 | c.926T>A (p.Val309Glu) c.962T>A (p.Val321Glu) c.704T>A (p.Val235Glu) c.863T>A (p.Val288Glu) | |
| 15 | g.38351255T>C | CA181530 | SPRED1 | c.926T>C (p.Val309Ala) c.962T>C (p.Val321Ala) c.704T>C (p.Val235Ala) c.863T>C (p.Val288Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.38351255T>G | CA391933560 | SPRED1 | c.926T>G (p.Val309Gly) c.962T>G (p.Val321Gly) c.704T>G (p.Val235Gly) c.863T>G (p.Val288Gly) | |
| 15 | g.38351255T= | CA2170812636 | SPRED1 | c.926T= (p.Val309=) c.962T= (p.Val321=) c.704T= (p.Val235=) c.863T= (p.Val288=) | |
| 15 | g.38351256G>A | CA490012250 | SPRED1 | c.927G>A (p.Val309=) c.963G>A (p.Val321=) c.705G>A (p.Val235=) c.864G>A (p.Val288=) | |
| 15 | g.38351256G>C | CA490012253 | SPRED1 | c.927G>C (p.Val309=) c.963G>C (p.Val321=) c.705G>C (p.Val235=) c.864G>C (p.Val288=) | |
| 15 | g.38351256G>T | CA490012255 | SPRED1 | c.927G>T (p.Val309=) c.963G>T (p.Val321=) c.705G>T (p.Val235=) c.864G>T (p.Val288=) | |
| 15 | g.38351257G>A | CA269293450 | SPRED1 | c.928G>A (p.Val310Ile) c.964G>A (p.Val322Ile) c.706G>A (p.Val236Ile) c.865G>A (p.Val289Ile) | dbSNP |
| 15 | g.38351257G>C | CA391933561 | SPRED1 | c.928G>C (p.Val310Leu) c.964G>C (p.Val322Leu) c.706G>C (p.Val236Leu) c.865G>C (p.Val289Leu) | |
| 15 | g.38351257G= | CA2170812637 | SPRED1 | c.928G= (p.Val310=) c.964G= (p.Val322=) c.706G= (p.Val236=) c.865G= (p.Val289=) | |
| 15 | g.38351257G>T | CA391933562 | SPRED1 | c.928G>T (p.Val310Leu) c.964G>T (p.Val322Leu) c.706G>T (p.Val236Leu) c.865G>T (p.Val289Leu) | |
| 15 | g.38351258T>A | CA391933565 | SPRED1 | c.929T>A (p.Val310Glu) c.965T>A (p.Val322Glu) c.707T>A (p.Val236Glu) c.866T>A (p.Val289Glu) | |
| 15 | g.38351258T>C | CA391933564 | SPRED1 | c.929T>C (p.Val310Ala) c.965T>C (p.Val322Ala) c.707T>C (p.Val236Ala) c.866T>C (p.Val289Ala) | gnomAD v4 |
| 15 | g.38351258T>G | CA391933563 | SPRED1 | c.929T>G (p.Val310Gly) c.965T>G (p.Val322Gly) c.707T>G (p.Val236Gly) c.866T>G (p.Val289Gly) | |
| 15 | g.38351259A= | CA2170812638 | SPRED1 | c.930A= (p.Val310=) c.966A= (p.Val322=) c.708A= (p.Val236=) c.867A= (p.Val289=) | |
| 15 | g.38351259A>C | CA490012258 | SPRED1 | c.930A>C (p.Val310=) c.966A>C (p.Val322=) c.708A>C (p.Val236=) c.867A>C (p.Val289=) | |
| 15 | g.38351259A>G | CA490012259 | SPRED1 | c.930A>G (p.Val310=) c.966A>G (p.Val322=) c.708A>G (p.Val236=) c.867A>G (p.Val289=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.38351259A>T | CA490012257 | SPRED1 | c.930A>T (p.Val310=) c.966A>T (p.Val322=) c.708A>T (p.Val236=) c.867A>T (p.Val289=) | |
| 15 | g.38351260T>A | CA391933566 | SPRED1 | c.931T>A (p.Phe311Ile) c.967T>A (p.Phe323Ile) c.709T>A (p.Phe237Ile) c.868T>A (p.Phe290Ile) | COSMIC |
| 15 | g.38351260T>C | CA269293451 | SPRED1 | c.931T>C (p.Phe311Leu) c.967T>C (p.Phe323Leu) c.709T>C (p.Phe237Leu) c.868T>C (p.Phe290Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.38351260T>G | CA391933567 | SPRED1 | c.931T>G (p.Phe311Val) c.967T>G (p.Phe323Val) c.709T>G (p.Phe237Val) c.868T>G (p.Phe290Val) | |
| 15 | g.38351260T= | CA2170812639 | SPRED1 | c.931T= (p.Phe311=) c.967T= (p.Phe323=) c.709T= (p.Phe237=) c.868T= (p.Phe290=) | |
| 15 | g.38351261_38351262del | CA2580089327 | SPRED1 | c.932_933del (p.Phe311Ter) c.968_969del (p.Phe323Ter) c.710_711del (p.Phe237Ter) c.869_870del (p.Phe290Ter) | ClinVar |
| 15 | g.38351261T>A | CA391933568 | SPRED1 | c.932T>A (p.Phe311Tyr) c.968T>A (p.Phe323Tyr) c.710T>A (p.Phe237Tyr) c.869T>A (p.Phe290Tyr) | |
| 15 | g.38351261T>C | CA391933569 | SPRED1 | c.932T>C (p.Phe311Ser) c.968T>C (p.Phe323Ser) c.710T>C (p.Phe237Ser) c.869T>C (p.Phe290Ser) | |
| 15 | g.38351261T>G | CA391933570 | SPRED1 | c.932T>G (p.Phe311Cys) c.968T>G (p.Phe323Cys) c.710T>G (p.Phe237Cys) c.869T>G (p.Phe290Cys) | |
| 15 | g.38351262T>A | CA391933571 | SPRED1 | c.933T>A (p.Phe311Leu) c.969T>A (p.Phe323Leu) c.711T>A (p.Phe237Leu) c.870T>A (p.Phe290Leu) | |
| 15 | g.38351262T>C | CA16606924 | SPRED1 | c.933T>C (p.Phe311=) c.969T>C (p.Phe323=) c.711T>C (p.Phe237=) c.870T>C (p.Phe290=) | ClinVar dbSNP |
| 15 | g.38351262T>G | CA391933572 | SPRED1 | c.933T>G (p.Phe311Leu) c.969T>G (p.Phe323Leu) c.711T>G (p.Phe237Leu) c.870T>G (p.Phe290Leu) | |
| 15 | g.38351262T= | CA2170812640 | SPRED1 | c.933T= (p.Phe311=) c.969T= (p.Phe323=) c.711T= (p.Phe237=) c.870T= (p.Phe290=) | |
| 15 | g.38351263A>C | CA391933573 | SPRED1 | c.934A>C (p.Lys312Gln) c.970A>C (p.Lys324Gln) c.712A>C (p.Lys238Gln) c.871A>C (p.Lys291Gln) | |
| 15 | g.38351263A>G | CA391933574 | SPRED1 | c.934A>G (p.Lys312Glu) c.970A>G (p.Lys324Glu) c.712A>G (p.Lys238Glu) c.871A>G (p.Lys291Glu) | |
| 15 | g.38351263A>T | CA391933575 | SPRED1 | c.934A>T (p.Lys312Ter) c.970A>T (p.Lys324Ter) c.712A>T (p.Lys238Ter) c.871A>T (p.Lys291Ter) | |
| 15 | g.38351264A>C | CA391933576 | SPRED1 | c.935A>C (p.Lys312Thr) c.971A>C (p.Lys324Thr) c.713A>C (p.Lys238Thr) c.872A>C (p.Lys291Thr) | |
| 15 | g.38351264A>G | CA391933577 | SPRED1 | c.935A>G (p.Lys312Arg) c.971A>G (p.Lys324Arg) c.713A>G (p.Lys238Arg) c.872A>G (p.Lys291Arg) | COSMIC |
| 15 | g.38351264A>T | CA391933578 | SPRED1 | c.935A>T (p.Lys312Met) c.971A>T (p.Lys324Met) c.713A>T (p.Lys238Met) c.872A>T (p.Lys291Met) | |
| 15 | g.38351265G>A | CA490012268 | SPRED1 | c.936G>A (p.Lys312=) c.972G>A (p.Lys324=) c.714G>A (p.Lys238=) c.873G>A (p.Lys291=) | |
| 15 | g.38351265G>C | CA391933579 | SPRED1 | c.936G>C (p.Lys312Asn) c.972G>C (p.Lys324Asn) c.714G>C (p.Lys238Asn) c.873G>C (p.Lys291Asn) | |
| 15 | g.38351265G>T | CA391933580 | SPRED1 | c.936G>T (p.Lys312Asn) c.972G>T (p.Lys324Asn) c.714G>T (p.Lys238Asn) c.873G>T (p.Lys291Asn) | |
| 15 | g.38351266A>C | CA391933581 | SPRED1 | c.937A>C (p.Thr313Pro) c.973A>C (p.Thr325Pro) c.715A>C (p.Thr239Pro) c.874A>C (p.Thr292Pro) | |
| 15 | g.38351266A>G | CA391933583 | SPRED1 | c.937A>G (p.Thr313Ala) c.973A>G (p.Thr325Ala) c.715A>G (p.Thr239Ala) c.874A>G (p.Thr292Ala) | |
| 15 | g.38351266A>T | CA391933582 | SPRED1 | c.937A>T (p.Thr313Ser) c.973A>T (p.Thr325Ser) c.715A>T (p.Thr239Ser) c.874A>T (p.Thr292Ser) | |
| 15 | g.38351267C>A | CA391933584 | SPRED1 | c.938C>A (p.Thr313Lys) c.974C>A (p.Thr325Lys) c.716C>A (p.Thr239Lys) c.875C>A (p.Thr292Lys) | |
| 15 | g.38351267C= | CA2170812641 | SPRED1 | c.938C= (p.Thr313=) c.974C= (p.Thr325=) c.716C= (p.Thr239=) c.875C= (p.Thr292=) | |
| 15 | g.38351267C>G | CA391933585 | SPRED1 | c.938C>G (p.Thr313Arg) c.974C>G (p.Thr325Arg) c.716C>G (p.Thr239Arg) c.875C>G (p.Thr292Arg) | |
| 15 | g.38351267C>T | CA7470206 | SPRED1 | c.938C>T (p.Thr313Met) c.974C>T (p.Thr325Met) c.716C>T (p.Thr239Met) c.875C>T (p.Thr292Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.38351268G>A | CA7470207 | SPRED1 | c.939G>A (p.Thr313=) c.975G>A (p.Thr325=) c.717G>A (p.Thr239=) c.876G>A (p.Thr292=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.38351268G>C | CA490012272 | SPRED1 | c.939G>C (p.Thr313=) c.975G>C (p.Thr325=) c.717G>C (p.Thr239=) c.876G>C (p.Thr292=) | |
| 15 | g.38351268G= | CA2170812642 | SPRED1 | c.939G= (p.Thr313=) c.975G= (p.Thr325=) c.717G= (p.Thr239=) c.876G= (p.Thr292=) | |
| 15 | g.38351268G>T | CA7470208 | SPRED1 | c.939G>T (p.Thr313=) c.975G>T (p.Thr325=) c.717G>T (p.Thr239=) c.876G>T (p.Thr292=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.38351269C>A | CA391933586 | SPRED1 | c.940C>A (p.Gln314Lys) c.976C>A (p.Gln326Lys) c.718C>A (p.Gln240Lys) c.877C>A (p.Gln293Lys) | gnomAD v4 |
| 15 | g.38351269C>G | CA391933587 | SPRED1 | c.940C>G (p.Gln314Glu) c.976C>G (p.Gln326Glu) c.718C>G (p.Gln240Glu) c.877C>G (p.Gln293Glu) | |
| 15 | g.38351269C>T | CA391933588 | SPRED1 | c.940C>T (p.Gln314Ter) c.976C>T (p.Gln326Ter) c.718C>T (p.Gln240Ter) c.877C>T (p.Gln293Ter) | |
| 15 | g.38351270A= | CA2170812643 | SPRED1 | c.941A= (p.Gln314=) c.977A= (p.Gln326=) c.719A= (p.Gln240=) c.878A= (p.Gln293=) | |
| 15 | g.38351270A>C | CA269293452 | SPRED1 | c.941A>C (p.Gln314Pro) c.977A>C (p.Gln326Pro) c.719A>C (p.Gln240Pro) c.878A>C (p.Gln293Pro) | dbSNP gnomAD v4 |
| 15 | g.38351270A>G | CA391933589 | SPRED1 | c.941A>G (p.Gln314Arg) c.977A>G (p.Gln326Arg) c.719A>G (p.Gln240Arg) c.878A>G (p.Gln293Arg) | |
| 15 | g.38351270A>T | CA391933590 | SPRED1 | c.941A>T (p.Gln314Leu) c.977A>T (p.Gln326Leu) c.719A>T (p.Gln240Leu) c.878A>T (p.Gln293Leu) | |
| 15 | g.38351271G>A | CA490012284 | SPRED1 | c.942G>A (p.Gln314=) c.978G>A (p.Gln326=) c.720G>A (p.Gln240=) c.879G>A (p.Gln293=) | gnomAD v4 |
| 15 | g.38351271G>C | CA391933592 | SPRED1 | c.942G>C (p.Gln314His) c.978G>C (p.Gln326His) c.720G>C (p.Gln240His) c.879G>C (p.Gln293His) | |
| 15 | g.38351271G>T | CA391933591 | SPRED1 | c.942G>T (p.Gln314His) c.978G>T (p.Gln326His) c.720G>T (p.Gln240His) c.879G>T (p.Gln293His) | |
| 15 | g.38351272C>A | CA391933593 | SPRED1 | c.943C>A (p.Pro315Thr) c.979C>A (p.Pro327Thr) c.721C>A (p.Pro241Thr) c.880C>A (p.Pro294Thr) | |
| 15 | g.38351272C>G | CA391933594 | SPRED1 | c.943C>G (p.Pro315Ala) c.979C>G (p.Pro327Ala) c.721C>G (p.Pro241Ala) c.880C>G (p.Pro294Ala) | gnomAD v4 |
| 15 | g.38351272C>T | CA391933595 | SPRED1 | c.943C>T (p.Pro315Ser) c.979C>T (p.Pro327Ser) c.721C>T (p.Pro241Ser) c.880C>T (p.Pro294Ser) | ClinVar |
| 15 | g.38351273C>A | CA391933596 | SPRED1 | c.944C>A (p.Pro315His) c.980C>A (p.Pro327His) c.722C>A (p.Pro241His) c.881C>A (p.Pro294His) | |
| 15 | g.38351273C= | CA2170812644 | SPRED1 | c.944C= (p.Pro315=) c.980C= (p.Pro327=) c.722C= (p.Pro241=) c.881C= (p.Pro294=) | |
| 15 | g.38351273C>G | CA391933597 | SPRED1 | c.944C>G (p.Pro315Arg) c.980C>G (p.Pro327Arg) c.722C>G (p.Pro241Arg) c.881C>G (p.Pro294Arg) | |
| 15 | g.38351273C>T | CA7470209 | SPRED1 | c.944C>T (p.Pro315Leu) c.980C>T (p.Pro327Leu) c.722C>T (p.Pro241Leu) c.881C>T (p.Pro294Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.38351274T>A | CA490012288 | SPRED1 | c.945T>A (p.Pro315=) c.981T>A (p.Pro327=) c.723T>A (p.Pro241=) c.882T>A (p.Pro294=) | |
| 15 | g.38351274T>C | CA490012291 | SPRED1 | c.945T>C (p.Pro315=) c.981T>C (p.Pro327=) c.723T>C (p.Pro241=) c.882T>C (p.Pro294=) | |
| 15 | g.38351274T>G | CA490012293 | SPRED1 | c.945T>G (p.Pro315=) c.981T>G (p.Pro327=) c.723T>G (p.Pro241=) c.882T>G (p.Pro294=) | COSMIC |
| 15 | g.38351275T>A | CA391933598 | SPRED1 | c.946T>A (p.Ser316Thr) c.982T>A (p.Ser328Thr) c.724T>A (p.Ser242Thr) c.883T>A (p.Ser295Thr) | |
| 15 | g.38351275T>C | CA391933599 | SPRED1 | c.946T>C (p.Ser316Pro) c.982T>C (p.Ser328Pro) c.724T>C (p.Ser242Pro) c.883T>C (p.Ser295Pro) | |
| 15 | g.38351275T>G | CA391933600 | SPRED1 | c.946T>G (p.Ser316Ala) c.982T>G (p.Ser328Ala) c.724T>G (p.Ser242Ala) c.883T>G (p.Ser295Ala) | |
| 15 | g.38351276C>A | CA391933601 | SPRED1 | c.947C>A (p.Ser316Tyr) c.983C>A (p.Ser328Tyr) c.725C>A (p.Ser242Tyr) c.884C>A (p.Ser295Tyr) | |
| 15 | g.38351276C>G | CA391933602 | SPRED1 | c.947C>G (p.Ser316Cys) c.983C>G (p.Ser328Cys) c.725C>G (p.Ser242Cys) c.884C>G (p.Ser295Cys) | |
| 15 | g.38351276C>T | CA391933603 | SPRED1 | c.947C>T (p.Ser316Phe) c.983C>T (p.Ser328Phe) c.725C>T (p.Ser242Phe) c.884C>T (p.Ser295Phe) | dbSNP |
| 15 | g.38351277C>A | CA490012302 | SPRED1 | c.948C>A (p.Ser316=) c.984C>A (p.Ser328=) c.726C>A (p.Ser242=) c.885C>A (p.Ser295=) | |
| 15 | g.38351277C= | CA2170812645 | SPRED1 | c.948C= (p.Ser316=) c.984C= (p.Ser328=) c.726C= (p.Ser242=) c.885C= (p.Ser295=) | |
| 15 | g.38351277C>G | CA490012305 | SPRED1 | c.948C>G (p.Ser316=) c.984C>G (p.Ser328=) c.726C>G (p.Ser242=) c.885C>G (p.Ser295=) | ClinVar dbSNP |
| 15 | g.38351277C>T | CA490012308 | SPRED1 | c.948C>T (p.Ser316=) c.984C>T (p.Ser328=) c.726C>T (p.Ser242=) c.885C>T (p.Ser295=) | |
| 15 | g.38351278T>A | CA391933605 | SPRED1 | c.949T>A (p.Ser317Thr) c.985T>A (p.Ser329Thr) c.727T>A (p.Ser243Thr) c.886T>A (p.Ser296Thr) | |
| 15 | g.38351278T>C | CA391933606 | SPRED1 | c.949T>C (p.Ser317Pro) c.985T>C (p.Ser329Pro) c.727T>C (p.Ser243Pro) c.886T>C (p.Ser296Pro) | |
| 15 | g.38351278T>G | CA391933604 | SPRED1 | c.949T>G (p.Ser317Ala) c.985T>G (p.Ser329Ala) c.727T>G (p.Ser243Ala) c.886T>G (p.Ser296Ala) | |
| 15 | g.38351279C>A | CA391933607 | SPRED1 | c.950C>A (p.Ser317Ter) c.986C>A (p.Ser329Ter) c.728C>A (p.Ser243Ter) c.887C>A (p.Ser296Ter) | |
| 15 | g.38351279C>G | CA391933608 | SPRED1 | c.950C>G (p.Ser317Ter) c.986C>G (p.Ser329Ter) c.728C>G (p.Ser243Ter) c.887C>G (p.Ser296Ter) | ClinVar |
| 15 | g.38351279C>T | CA391933609 | SPRED1 | c.950C>T (p.Ser317Leu) c.986C>T (p.Ser329Leu) c.728C>T (p.Ser243Leu) c.887C>T (p.Ser296Leu) | gnomAD v4 |
| 15 | g.38351280A= | CA2170812646 | SPRED1 | c.951A= (p.Ser317=) c.987A= (p.Ser329=) c.729A= (p.Ser243=) c.888A= (p.Ser296=) | |
| 15 | g.38351280A>C | CA490012315 | SPRED1 | c.951A>C (p.Ser317=) c.987A>C (p.Ser329=) c.729A>C (p.Ser243=) c.888A>C (p.Ser296=) | |
| 15 | g.38351280A>G | CA490012313 | SPRED1 | c.951A>G (p.Ser317=) c.987A>G (p.Ser329=) c.729A>G (p.Ser243=) c.888A>G (p.Ser296=) | dbSNP |
| 15 | g.38351280A>T | CA269293453 | SPRED1 | c.951A>T (p.Ser317=) c.987A>T (p.Ser329=) c.729A>T (p.Ser243=) c.888A>T (p.Ser296=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.38351281T>A | CA391933610 | SPRED1 | c.952T>A (p.Leu318Ile) c.988T>A (p.Leu330Ile) c.730T>A (p.Leu244Ile) c.889T>A (p.Leu297Ile) | |
| 15 | g.38351281T>C | CA490012317 | SPRED1 | c.952T>C (p.Leu318=) c.988T>C (p.Leu330=) c.730T>C (p.Leu244=) c.889T>C (p.Leu297=) | |
| 15 | g.38351281T>G | CA391933611 | SPRED1 | c.952T>G (p.Leu318Val) c.988T>G (p.Leu330Val) c.730T>G (p.Leu244Val) c.889T>G (p.Leu297Val) | |
| 15 | g.38351282T>A | CA391933614 | SPRED1 | c.953T>A (p.Leu318Ter) c.989T>A (p.Leu330Ter) c.731T>A (p.Leu244Ter) c.890T>A (p.Leu297Ter) | COSMIC |
| 15 | g.38351282T>C | CA391933612 | SPRED1 | c.953T>C (p.Leu318Ser) c.989T>C (p.Leu330Ser) c.731T>C (p.Leu244Ser) c.890T>C (p.Leu297Ser) | |
| 15 | g.38351282T>G | CA391933613 | SPRED1 | c.953T>G (p.Leu318Ter) c.989T>G (p.Leu330Ter) c.731T>G (p.Leu244Ter) c.890T>G (p.Leu297Ter) | |
| 15 | g.38351283A= | CA2170812647 | SPRED1 | c.954A= (p.Leu318=) c.990A= (p.Leu330=) c.732A= (p.Leu244=) c.891A= (p.Leu297=) | |
| 15 | g.38351283A>C | CA391933615 | SPRED1 | c.954A>C (p.Leu318Phe) c.990A>C (p.Leu330Phe) c.732A>C (p.Leu244Phe) c.891A>C (p.Leu297Phe) | |
| 15 | g.38351283A>G | CA7470210 | SPRED1 | c.954A>G (p.Leu318=) c.990A>G (p.Leu330=) c.732A>G (p.Leu244=) c.891A>G (p.Leu297=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.38351283A>T | CA391933616 | SPRED1 | c.954A>T (p.Leu318Phe) c.990A>T (p.Leu330Phe) c.732A>T (p.Leu244Phe) c.891A>T (p.Leu297Phe) | COSMIC |
| 15 | g.38351287dup | CA2580089329 | SPRED1 | c.958dup (p.Ile320AsnfsTer2) c.994dup (p.Ile332AsnfsTer2) c.736dup (p.Ile246AsnfsTer2) c.895dup (p.Ile299AsnfsTer2) | ClinVar |
| 15 | g.38351284A>C | CA391933617 | SPRED1 | c.955A>C (p.Lys319Gln) c.991A>C (p.Lys331Gln) c.733A>C (p.Lys245Gln) c.892A>C (p.Lys298Gln) | |
| 15 | g.38351284A>G | CA391933618 | SPRED1 | c.955A>G (p.Lys319Glu) c.991A>G (p.Lys331Glu) c.733A>G (p.Lys245Glu) c.892A>G (p.Lys298Glu) | |
| 15 | g.38351284A>T | CA391933619 | SPRED1 | c.955A>T (p.Lys319Ter) c.991A>T (p.Lys331Ter) c.733A>T (p.Lys245Ter) c.892A>T (p.Lys298Ter) | |
| 15 | g.38351285A>C | CA391933622 | SPRED1 | c.956A>C (p.Lys319Thr) c.992A>C (p.Lys331Thr) c.734A>C (p.Lys245Thr) c.893A>C (p.Lys298Thr) | |
| 15 | g.38351285A>G | CA391933621 | SPRED1 | c.956A>G (p.Lys319Arg) c.992A>G (p.Lys331Arg) c.734A>G (p.Lys245Arg) c.893A>G (p.Lys298Arg) | |
| 15 | g.38351285A>T | CA391933620 | SPRED1 | c.956A>T (p.Lys319Ile) c.992A>T (p.Lys331Ile) c.734A>T (p.Lys245Ile) c.893A>T (p.Lys298Ile) | |
| 15 | g.38351286A>C | CA391933623 | SPRED1 | c.957A>C (p.Lys319Asn) c.993A>C (p.Lys331Asn) c.735A>C (p.Lys245Asn) c.894A>C (p.Lys298Asn) | gnomAD v4 |
| 15 | g.38351286A>G | CA490012330 | SPRED1 | c.957A>G (p.Lys319=) c.993A>G (p.Lys331=) c.735A>G (p.Lys245=) c.894A>G (p.Lys298=) | |
| 15 | g.38351286A>T | CA391933624 | SPRED1 | c.957A>T (p.Lys319Asn) c.993A>T (p.Lys331Asn) c.735A>T (p.Lys245Asn) c.894A>T (p.Lys298Asn) | |
| 15 | g.38351287A>C | CA391933625 | SPRED1 | c.958A>C (p.Ile320Leu) c.994A>C (p.Ile332Leu) c.736A>C (p.Ile246Leu) c.895A>C (p.Ile299Leu) | gnomAD v4 |
| 15 | g.38351287A>G | CA391933626 | SPRED1 | c.958A>G (p.Ile320Val) c.994A>G (p.Ile332Val) c.736A>G (p.Ile246Val) c.895A>G (p.Ile299Val) | ClinVar |
| 15 | g.38351287A>T | CA391933627 | SPRED1 | c.958A>T (p.Ile320Phe) c.994A>T (p.Ile332Phe) c.736A>T (p.Ile246Phe) c.895A>T (p.Ile299Phe) | |
| 15 | g.38351288T>A | CA391933628 | SPRED1 | c.959T>A (p.Ile320Asn) c.995T>A (p.Ile332Asn) c.737T>A (p.Ile246Asn) c.896T>A (p.Ile299Asn) | |
| 15 | g.38351288T>C | CA391933629 | SPRED1 | c.959T>C (p.Ile320Thr) c.995T>C (p.Ile332Thr) c.737T>C (p.Ile246Thr) c.896T>C (p.Ile299Thr) | |
| 15 | g.38351288T>G | CA391933630 | SPRED1 | c.959T>G (p.Ile320Ser) c.995T>G (p.Ile332Ser) c.737T>G (p.Ile246Ser) c.896T>G (p.Ile299Ser) | |
| 15 | g.38351289_38351296del | CA645591363 | SPRED1 | c.960_967del (p.Lys322ThrfsTer7) c.996_1003del (p.Lys334ThrfsTer7) c.738_745del (p.Lys248ThrfsTer7) c.897_904del (p.Lys301ThrfsTer7) | COSMIC |
| 15 | g.38351289T>A | CA490012335 | SPRED1 | c.960T>A (p.Ile320=) c.996T>A (p.Ile332=) c.738T>A (p.Ile246=) c.897T>A (p.Ile299=) | |
| 15 | g.38351289T>C | CA490012336 | SPRED1 | c.960T>C (p.Ile320=) c.996T>C (p.Ile332=) c.738T>C (p.Ile246=) c.897T>C (p.Ile299=) | gnomAD v4 |
| 15 | g.38351289T>G | CA391933631 | SPRED1 | c.960T>G (p.Ile320Met) c.996T>G (p.Ile332Met) c.738T>G (p.Ile246Met) c.897T>G (p.Ile299Met) | |
| 15 | g.38351290A>C | CA391933632 | SPRED1 | c.961A>C (p.Lys321Gln) c.997A>C (p.Lys333Gln) c.739A>C (p.Lys247Gln) c.898A>C (p.Lys300Gln) | |
| 15 | g.38351290A>G | CA391933633 | SPRED1 | c.961A>G (p.Lys321Glu) c.997A>G (p.Lys333Glu) c.739A>G (p.Lys247Glu) c.898A>G (p.Lys300Glu) | |
| 15 | g.38351290A>T | CA391933634 | SPRED1 | c.961A>T (p.Lys321Ter) c.997A>T (p.Lys333Ter) c.739A>T (p.Lys247Ter) c.898A>T (p.Lys300Ter) | |
| 15 | g.38351291A>C | CA391933635 | SPRED1 | c.962A>C (p.Lys321Thr) c.998A>C (p.Lys333Thr) c.740A>C (p.Lys247Thr) c.899A>C (p.Lys300Thr) | ClinVar |
| 15 | g.38351291A>G | CA391933636 | SPRED1 | c.962A>G (p.Lys321Arg) c.998A>G (p.Lys333Arg) c.740A>G (p.Lys247Arg) c.899A>G (p.Lys300Arg) | ClinVar |
| 15 | g.38351291A>T | CA391933637 | SPRED1 | c.962A>T (p.Lys321Met) c.998A>T (p.Lys333Met) c.740A>T (p.Lys247Met) c.899A>T (p.Lys300Met) | |
| 15 | g.38351291_38351297delinsAGAAGTC | CA2170812648 | SPRED1 | c.962_968delinsAGAAGTC (p.Lys321=) c.998_1004delinsAGAAGTC (p.Lys333=) c.740_746delinsAGAAGTC (p.Lys247=) c.899_905delinsAGAAGTC (p.Lys300=) | |
| 15 | g.38351292G>A | CA7470212 | SPRED1 | c.963G>A (p.Lys321=) c.999G>A (p.Lys333=) c.741G>A (p.Lys247=) c.900G>A (p.Lys300=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.38351292G>C | CA391933639 | SPRED1 | c.963G>C (p.Lys321Asn) c.999G>C (p.Lys333Asn) c.741G>C (p.Lys247Asn) c.900G>C (p.Lys300Asn) | ClinVar |
| 15 | g.38351292G= | CA2170812649 | SPRED1 | c.963G= (p.Lys321=) c.999G= (p.Lys333=) c.741G= (p.Lys247=) c.900G= (p.Lys300=) | |
| 15 | g.38351292G>T | CA391933638 | SPRED1 | c.963G>T (p.Lys321Asn) c.999G>T (p.Lys333Asn) c.741G>T (p.Lys247Asn) c.900G>T (p.Lys300Asn) | |
| 15 | g.38351292_38351297del | CA7470211 | SPRED1 | c.963_968del (p.Lys322_Ser323del) c.999_1004del (p.Lys334_Ser335del) c.741_746del (p.Lys248_Ser249del) c.900_905del (p.Lys301_Ser302del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.38351293A>C | CA391933640 | SPRED1 | c.964A>C (p.Lys322Gln) c.1000A>C (p.Lys334Gln) c.742A>C (p.Lys248Gln) c.901A>C (p.Lys301Gln) | |
| 15 | g.38351293A>G | CA391933641 | SPRED1 | c.964A>G (p.Lys322Glu) c.1000A>G (p.Lys334Glu) c.742A>G (p.Lys248Glu) c.901A>G (p.Lys301Glu) | gnomAD v4 |
| 15 | g.38351293A>T | CA391933642 | SPRED1 | c.964A>T (p.Lys322Ter) c.1000A>T (p.Lys334Ter) c.742A>T (p.Lys248Ter) c.901A>T (p.Lys301Ter) | ClinVar |
| 15 | g.38351294A= | CA2170812650 | SPRED1 | c.965A= (p.Lys322=) c.1001A= (p.Lys334=) c.743A= (p.Lys248=) c.902A= (p.Lys301=) | |
| 15 | g.38351294A>C | CA391933643 | SPRED1 | c.965A>C (p.Lys322Thr) c.1001A>C (p.Lys334Thr) c.743A>C (p.Lys248Thr) c.902A>C (p.Lys301Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.38351294A>G | CA391933644 | SPRED1 | c.965A>G (p.Lys322Arg) c.1001A>G (p.Lys334Arg) c.743A>G (p.Lys248Arg) c.902A>G (p.Lys301Arg) | |
| 15 | g.38351294A>T | CA391933645 | SPRED1 | c.965A>T (p.Lys322Met) c.1001A>T (p.Lys334Met) c.743A>T (p.Lys248Met) c.902A>T (p.Lys301Met) | |
| 15 | g.38351295G>A | CA490012350 | SPRED1 | c.966G>A (p.Lys322=) c.1002G>A (p.Lys334=) c.744G>A (p.Lys248=) c.903G>A (p.Lys301=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 15 | g.38351295G>C | CA391933646 | SPRED1 | c.966G>C (p.Lys322Asn) c.1002G>C (p.Lys334Asn) c.744G>C (p.Lys248Asn) c.903G>C (p.Lys301Asn) | |
| 15 | g.38351295G= | CA2170812651 | SPRED1 | c.966G= (p.Lys322=) c.1002G= (p.Lys334=) c.744G= (p.Lys248=) c.903G= (p.Lys301=) | |
| 15 | g.38351295G>T | CA391933647 | SPRED1 | c.966G>T (p.Lys322Asn) c.1002G>T (p.Lys334Asn) c.744G>T (p.Lys248Asn) c.903G>T (p.Lys301Asn) | |
| 15 | g.38351296T>A | CA391933648 | SPRED1 | c.967T>A (p.Ser323Thr) c.1003T>A (p.Ser335Thr) c.745T>A (p.Ser249Thr) c.904T>A (p.Ser302Thr) | |
| 15 | g.38351296T>C | CA391933649 | SPRED1 | c.967T>C (p.Ser323Pro) c.1003T>C (p.Ser335Pro) c.745T>C (p.Ser249Pro) c.904T>C (p.Ser302Pro) | |
| 15 | g.38351296T>G | CA391933650 | SPRED1 | c.967T>G (p.Ser323Ala) c.1003T>G (p.Ser335Ala) c.745T>G (p.Ser249Ala) c.904T>G (p.Ser302Ala) | ClinVar |
| 15 | g.38351296_38351310delinsTCAAAACGAAGAAAA | CA2170812652 | SPRED1 | c.967_981delinsTCAAAACGAAGAAAA (p.Ser323=) c.1003_1017delinsTCAAAACGAAGAAAA (p.Ser335=) c.745_759delinsTCAAAACGAAGAAAA (p.Ser249=) c.904_918delinsTCAAAACGAAGAAAA (p.Ser302=) | |
| 15 | g.38351297C>A | CA391933653 | SPRED1 | c.968C>A (p.Ser323Ter) c.1004C>A (p.Ser335Ter) c.746C>A (p.Ser249Ter) c.905C>A (p.Ser302Ter) | |
| 15 | g.38351297C>G | CA391933651 | SPRED1 | c.968C>G (p.Ser323Ter) c.1004C>G (p.Ser335Ter) c.746C>G (p.Ser249Ter) c.905C>G (p.Ser302Ter) | |
| 15 | g.38351297C>T | CA391933652 | SPRED1 | c.968C>T (p.Ser323Leu) c.1004C>T (p.Ser335Leu) c.746C>T (p.Ser249Leu) c.905C>T (p.Ser302Leu) | |
| 15 | g.38351297_38351310del | CA2170812653 | SPRED1 | c.968_981del (p.Ser323Ter) c.1004_1017del (p.Ser335Ter) c.746_759del (p.Ser249Ter) c.905_918del (p.Ser302Ter) | dbSNP |
| 15 | g.38351298A>C | CA490012355 | SPRED1 | c.969A>C (p.Ser323=) c.1005A>C (p.Ser335=) c.747A>C (p.Ser249=) c.906A>C (p.Ser302=) | |
| 15 | g.38351298A>G | CA490012356 | SPRED1 | c.969A>G (p.Ser323=) c.1005A>G (p.Ser335=) c.747A>G (p.Ser249=) c.906A>G (p.Ser302=) | |
| 15 | g.38351298A>T | CA490012357 | SPRED1 | c.969A>T (p.Ser323=) c.1005A>T (p.Ser335=) c.747A>T (p.Ser249=) c.906A>T (p.Ser302=) | |
| 15 | g.38351299A>C | CA391933654 | SPRED1 | c.970A>C (p.Lys324Gln) c.1006A>C (p.Lys336Gln) c.748A>C (p.Lys250Gln) c.907A>C (p.Lys303Gln) | |
| 15 | g.38351299A>G | CA391933655 | SPRED1 | c.970A>G (p.Lys324Glu) c.1006A>G (p.Lys336Glu) c.748A>G (p.Lys250Glu) c.907A>G (p.Lys303Glu) | COSMIC |
| 15 | g.38351299A>T | CA391933656 | SPRED1 | c.970A>T (p.Lys324Ter) c.1006A>T (p.Lys336Ter) c.748A>T (p.Lys250Ter) c.907A>T (p.Lys303Ter) | |
| 15 | g.38351300A>C | CA391933657 | SPRED1 | c.971A>C (p.Lys324Thr) c.1007A>C (p.Lys336Thr) c.749A>C (p.Lys250Thr) c.908A>C (p.Lys303Thr) | |
| 15 | g.38351300A>G | CA391933658 | SPRED1 | c.971A>G (p.Lys324Arg) c.1007A>G (p.Lys336Arg) c.749A>G (p.Lys250Arg) c.908A>G (p.Lys303Arg) | |
| 15 | g.38351300A>T | CA391933659 | SPRED1 | c.971A>T (p.Lys324Ile) c.1007A>T (p.Lys336Ile) c.749A>T (p.Lys250Ile) c.908A>T (p.Lys303Ile) | |
| 15 | g.38351301A= | CA2170812654 | SPRED1 | c.972A= (p.Lys324=) c.1008A= (p.Lys336=) c.750A= (p.Lys250=) c.909A= (p.Lys303=) | |
| 15 | g.38351301A>C | CA391933660 | SPRED1 | c.972A>C (p.Lys324Asn) c.1008A>C (p.Lys336Asn) c.750A>C (p.Lys250Asn) c.909A>C (p.Lys303Asn) | gnomAD v4 |
| 15 | g.38351301A>G | CA490012361 | SPRED1 | c.972A>G (p.Lys324=) c.1008A>G (p.Lys336=) c.750A>G (p.Lys250=) c.909A>G (p.Lys303=) | dbSNP gnomAD v4 |
| 15 | g.38351301A>T | CA391933661 | SPRED1 | c.972A>T (p.Lys324Asn) c.1008A>T (p.Lys336Asn) c.750A>T (p.Lys250Asn) c.909A>T (p.Lys303Asn) | |
| 15 | g.38351302C>A | CA490012362 | SPRED1 | c.973C>A (p.Arg325=) c.1009C>A (p.Arg337=) c.751C>A (p.Arg251=) c.910C>A (p.Arg304=) | |
| 15 | g.38351302C= | CA2170812655 | SPRED1 | c.973C= (p.Arg325=) c.1009C= (p.Arg337=) c.751C= (p.Arg251=) c.910C= (p.Arg304=) | |
| 15 | g.38351302C>G | CA391933662 | SPRED1 | c.973C>G (p.Arg325Gly) c.1009C>G (p.Arg337Gly) c.751C>G (p.Arg251Gly) c.910C>G (p.Arg304Gly) | ClinVar dbSNP |
| 15 | g.38351302C>T | CA16043687 | SPRED1 | c.973C>T (p.Arg325Ter) c.1009C>T (p.Arg337Ter) c.751C>T (p.Arg251Ter) c.910C>T (p.Arg304Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.38351303G>A | CA391933663 | SPRED1 | c.974G>A (p.Arg325Gln) c.1010G>A (p.Arg337Gln) c.752G>A (p.Arg251Gln) c.911G>A (p.Arg304Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 15 | g.38351303G>C | CA391933664 | SPRED1 | c.974G>C (p.Arg325Pro) c.1010G>C (p.Arg337Pro) c.752G>C (p.Arg251Pro) c.911G>C (p.Arg304Pro) | |
| 15 | g.38351303G= | CA2170812656 | SPRED1 | c.974G= (p.Arg325=) c.1010G= (p.Arg337=) c.752G= (p.Arg251=) c.911G= (p.Arg304=) | |
| 15 | g.38351303G>T | CA391933665 | SPRED1 | c.974G>T (p.Arg325Leu) c.1010G>T (p.Arg337Leu) c.752G>T (p.Arg251Leu) c.911G>T (p.Arg304Leu) | |
| 15 | g.38351304A= | CA2170812657 | SPRED1 | c.975A= (p.Arg325=) c.1011A= (p.Arg337=) c.753A= (p.Arg251=) c.912A= (p.Arg304=) | |
| 15 | g.38351304A>C | CA490012366 | SPRED1 | c.975A>C (p.Arg325=) c.1011A>C (p.Arg337=) c.753A>C (p.Arg251=) c.912A>C (p.Arg304=) | |
| 15 | g.38351304A>G | CA490012364 | SPRED1 | c.975A>G (p.Arg325=) c.1011A>G (p.Arg337=) c.753A>G (p.Arg251=) c.912A>G (p.Arg304=) | dbSNP |
| 15 | g.38351304A>T | CA490012365 | SPRED1 | c.975A>T (p.Arg325=) c.1011A>T (p.Arg337=) c.753A>T (p.Arg251=) c.912A>T (p.Arg304=) | |
| 15 | g.38351305A= | CA2170812658 | SPRED1 | c.976A= (p.Arg326=) c.1012A= (p.Arg338=) c.754A= (p.Arg252=) c.913A= (p.Arg305=) | |
| 15 | g.38351305A>C | CA490012367 | SPRED1 | c.976A>C (p.Arg326=) c.1012A>C (p.Arg338=) c.754A>C (p.Arg252=) c.913A>C (p.Arg305=) | gnomAD v4 |
| 15 | g.38351305A>G | CA391933667 | SPRED1 | c.976A>G (p.Arg326Gly) c.1012A>G (p.Arg338Gly) c.754A>G (p.Arg252Gly) c.913A>G (p.Arg305Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.38351305A>T | CA391933666 | SPRED1 | c.976A>T (p.Arg326Ter) c.1012A>T (p.Arg338Ter) c.754A>T (p.Arg252Ter) c.913A>T (p.Arg305Ter) | |
| 15 | g.38351306G>A | CA391933668 | SPRED1 | c.977G>A (p.Arg326Lys) c.1013G>A (p.Arg338Lys) c.755G>A (p.Arg252Lys) c.914G>A (p.Arg305Lys) | |
| 15 | g.38351306G>C | CA7470213 | SPRED1 | c.977G>C (p.Arg326Thr) c.1013G>C (p.Arg338Thr) c.755G>C (p.Arg252Thr) c.914G>C (p.Arg305Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.38351306G= | CA2170812659 | SPRED1 | c.977G= (p.Arg326=) c.1013G= (p.Arg338=) c.755G= (p.Arg252=) c.914G= (p.Arg305=) | |
| 15 | g.38351306G>T | CA391933669 | SPRED1 | c.977G>T (p.Arg326Ile) c.1013G>T (p.Arg338Ile) c.755G>T (p.Arg252Ile) c.914G>T (p.Arg305Ile) | |
| 15 | g.38351307A= | CA2170812660 | SPRED1 | c.978A= (p.Arg326=) c.1014A= (p.Arg338=) c.756A= (p.Arg252=) c.915A= (p.Arg305=) | |
| 15 | g.38351307A>C | CA391933670 | SPRED1 | c.978A>C (p.Arg326Ser) c.1014A>C (p.Arg338Ser) c.756A>C (p.Arg252Ser) c.915A>C (p.Arg305Ser) | |
| 15 | g.38351307A>G | CA269293454 | SPRED1 | c.978A>G (p.Arg326=) c.1014A>G (p.Arg338=) c.756A>G (p.Arg252=) c.915A>G (p.Arg305=) | dbSNP |
| 15 | g.38351307A>T | CA391933671 | SPRED1 | c.978A>T (p.Arg326Ser) c.1014A>T (p.Arg338Ser) c.756A>T (p.Arg252Ser) c.915A>T (p.Arg305Ser) | |
| 15 | g.38351309_38351310del | CA2627716207 | SPRED1 | c.980_981del (p.Lys327ArgfsTer4) c.1016_1017del (p.Lys339ArgfsTer4) c.758_759del (p.Lys253ArgfsTer4) c.917_918del (p.Lys306ArgfsTer4) | gnomAD v4 |
| 15 | g.38351308A>C | CA391933672 | SPRED1 | c.979A>C (p.Lys327Gln) c.1015A>C (p.Lys339Gln) c.757A>C (p.Lys253Gln) c.916A>C (p.Lys306Gln) | |
| 15 | g.38351308A>G | CA391933673 | SPRED1 | c.979A>G (p.Lys327Glu) c.1015A>G (p.Lys339Glu) c.757A>G (p.Lys253Glu) c.916A>G (p.Lys306Glu) | |
| 15 | g.38351308A>T | CA391933674 | SPRED1 | c.979A>T (p.Lys327Ter) c.1015A>T (p.Lys339Ter) c.757A>T (p.Lys253Ter) c.916A>T (p.Lys306Ter) | |
| 15 | g.38351309A>C | CA391933675 | SPRED1 | c.980A>C (p.Lys327Thr) c.1016A>C (p.Lys339Thr) c.758A>C (p.Lys253Thr) c.917A>C (p.Lys306Thr) | |
| 15 | g.38351309A>G | CA391933676 | SPRED1 | c.980A>G (p.Lys327Arg) c.1016A>G (p.Lys339Arg) c.758A>G (p.Lys253Arg) c.917A>G (p.Lys306Arg) | |
| 15 | g.38351309A>T | CA391933677 | SPRED1 | c.980A>T (p.Lys327Ile) c.1016A>T (p.Lys339Ile) c.758A>T (p.Lys253Ile) c.917A>T (p.Lys306Ile) | |
| 15 | g.38351310A>C | CA391933678 | SPRED1 | c.981A>C (p.Lys327Asn) c.1017A>C (p.Lys339Asn) c.759A>C (p.Lys253Asn) c.918A>C (p.Lys306Asn) | |
| 15 | g.38351310A>G | CA490012374 | SPRED1 | c.981A>G (p.Lys327=) c.1017A>G (p.Lys339=) c.759A>G (p.Lys253=) c.918A>G (p.Lys306=) | |
| 15 | g.38351310A>T | CA391933679 | SPRED1 | c.981A>T (p.Lys327Asn) c.1017A>T (p.Lys339Asn) c.759A>T (p.Lys253Asn) c.918A>T (p.Lys306Asn) | |
| 15 | g.38351311G>A | CA391933682 | SPRED1 | c.982G>A (p.Glu328Lys) c.1018G>A (p.Glu340Lys) c.760G>A (p.Glu254Lys) c.919G>A (p.Glu307Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.38351311G>C | CA391933680 | SPRED1 | c.982G>C (p.Glu328Gln) c.1018G>C (p.Glu340Gln) c.760G>C (p.Glu254Gln) c.919G>C (p.Glu307Gln) | |
| 15 | g.38351311G= | CA2170812661 | SPRED1 | c.982G= (p.Glu328=) c.1018G= (p.Glu340=) c.760G= (p.Glu254=) c.919G= (p.Glu307=) | |
| 15 | g.38351311G>T | CA391933681 | SPRED1 | c.982G>T (p.Glu328Ter) c.1018G>T (p.Glu340Ter) c.760G>T (p.Glu254Ter) c.919G>T (p.Glu307Ter) | COSMIC |
| 15 | g.38351312A>C | CA391933683 | SPRED1 | c.983A>C (p.Glu328Ala) c.1019A>C (p.Glu340Ala) c.761A>C (p.Glu254Ala) c.920A>C (p.Glu307Ala) | |
| 15 | g.38351312A>G | CA391933684 | SPRED1 | c.983A>G (p.Glu328Gly) c.1019A>G (p.Glu340Gly) c.761A>G (p.Glu254Gly) c.920A>G (p.Glu307Gly) | |
| 15 | g.38351312A>T | CA391933685 | SPRED1 | c.983A>T (p.Glu328Val) c.1019A>T (p.Glu340Val) c.761A>T (p.Glu254Val) c.920A>T (p.Glu307Val) | |
| 15 | g.38351313G>A | CA490012377 | SPRED1 | c.984G>A (p.Glu328=) c.1020G>A (p.Glu340=) c.762G>A (p.Glu254=) c.921G>A (p.Glu307=) | ClinVar |
| 15 | g.38351313G>C | CA391933686 | SPRED1 | c.984G>C (p.Glu328Asp) c.1020G>C (p.Glu340Asp) c.762G>C (p.Glu254Asp) c.921G>C (p.Glu307Asp) | |
| 15 | g.38351313G>T | CA391933687 | SPRED1 | c.984G>T (p.Glu328Asp) c.1020G>T (p.Glu340Asp) c.762G>T (p.Glu254Asp) c.921G>T (p.Glu307Asp) | |
| 15 | g.38351314G>A | CA269293455 | SPRED1 | c.985G>A (p.Asp329Asn) c.1021G>A (p.Asp341Asn) c.763G>A (p.Asp255Asn) c.922G>A (p.Asp308Asn) | dbSNP gnomAD v4 |
| 15 | g.38351314G>C | CA7470214 | SPRED1 | c.985G>C (p.Asp329His) c.1021G>C (p.Asp341His) c.763G>C (p.Asp255His) c.922G>C (p.Asp308His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.38351314G= | CA2170812662 | SPRED1 | c.985G= (p.Asp329=) c.1021G= (p.Asp341=) c.763G= (p.Asp255=) c.922G= (p.Asp308=) | |
| 15 | g.38351314G>T | CA391933688 | SPRED1 | c.985G>T (p.Asp329Tyr) c.1021G>T (p.Asp341Tyr) c.763G>T (p.Asp255Tyr) c.922G>T (p.Asp308Tyr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.38351315A= | CA2170812663 | SPRED1 | c.986A= (p.Asp329=) c.1022A= (p.Asp341=) c.764A= (p.Asp255=) c.923A= (p.Asp308=) | |
| 15 | g.38351315A>C | CA391933689 | SPRED1 | c.986A>C (p.Asp329Ala) c.1022A>C (p.Asp341Ala) c.764A>C (p.Asp255Ala) c.923A>C (p.Asp308Ala) | |
| 15 | g.38351315A>G | CA391933690 | SPRED1 | c.986A>G (p.Asp329Gly) c.1022A>G (p.Asp341Gly) c.764A>G (p.Asp255Gly) c.923A>G (p.Asp308Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.38351315A>T | CA391933691 | SPRED1 | c.986A>T (p.Asp329Val) c.1022A>T (p.Asp341Val) c.764A>T (p.Asp255Val) c.923A>T (p.Asp308Val) |