Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.38350987T>A | CA2170812526 | SPRED1 | c.685-27T>A (n.685-27T>A) c.721-27T>A (n.721-27T>A) c.463-27T>A (n.463-27T>A) c.622-27T>A (n.622-27T>A) | dbSNP |
15 | g.38350987T= | CA2170812527 | SPRED1 | c.685-27T= (n.685-27T=) c.721-27T= (n.721-27T=) c.463-27T= (n.463-27T=) c.622-27T= (n.622-27T=) | |
15 | g.38350988G>A | CA2627716198 | SPRED1 | c.685-26G>A (n.685-26G>A) c.721-26G>A (n.721-26G>A) c.463-26G>A (n.463-26G>A) c.622-26G>A (n.622-26G>A) | gnomAD v4 |
15 | g.38350989C>A | CA2627716199 | SPRED1 | c.685-25C>A (n.685-25C>A) c.721-25C>A (n.721-25C>A) c.463-25C>A (n.463-25C>A) c.622-25C>A (n.622-25C>A) | gnomAD v4 |
15 | g.38350990A= | CA2170812528 | SPRED1 | c.685-24A= (n.685-24A=) c.721-24A= (n.721-24A=) c.463-24A= (n.463-24A=) c.622-24A= (n.622-24A=) | |
15 | g.38350990A>G | CA269293435 | SPRED1 | c.685-24A>G (n.685-24A>G) c.721-24A>G (n.721-24A>G) c.463-24A>G (n.463-24A>G) c.622-24A>G (n.622-24A>G) | dbSNP |
15 | g.38350991G>A | CA7470176 | SPRED1 | c.685-23G>A (n.685-23G>A) c.721-23G>A (n.721-23G>A) c.463-23G>A (n.463-23G>A) c.622-23G>A (n.622-23G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.38350991G>C | CA2627716200 | SPRED1 | c.685-23G>C (n.685-23G>C) c.721-23G>C (n.721-23G>C) c.463-23G>C (n.463-23G>C) c.622-23G>C (n.622-23G>C) | gnomAD v4 |
15 | g.38350991G= | CA2170812529 | SPRED1 | c.685-23G= (n.685-23G=) c.721-23G= (n.721-23G=) c.463-23G= (n.463-23G=) c.622-23G= (n.622-23G=) | |
15 | g.38350992T>C | CA712614525 | SPRED1 | c.685-22T>C (n.685-22T>C) c.721-22T>C (n.721-22T>C) c.463-22T>C (n.463-22T>C) c.622-22T>C (n.622-22T>C) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.38350992T= | CA2170812530 | SPRED1 | c.685-22T= (n.685-22T=) c.721-22T= (n.721-22T=) c.463-22T= (n.463-22T=) c.622-22T= (n.622-22T=) | |
15 | g.38350995T>C | CA7470177 | SPRED1 | c.685-19T>C (n.685-19T>C) c.721-19T>C (n.721-19T>C) c.463-19T>C (n.463-19T>C) c.622-19T>C (n.622-19T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.38350995T= | CA2170812531 | SPRED1 | c.685-19T= (n.685-19T=) c.721-19T= (n.721-19T=) c.463-19T= (n.463-19T=) c.622-19T= (n.622-19T=) | |
15 | g.38350996T>C | CA617505867 | SPRED1 | c.685-18T>C (n.685-18T>C) c.721-18T>C (n.721-18T>C) c.463-18T>C (n.463-18T>C) c.622-18T>C (n.622-18T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.38350996T= | CA2170812532 | SPRED1 | c.685-18T= (n.685-18T=) c.721-18T= (n.721-18T=) c.463-18T= (n.463-18T=) c.622-18T= (n.622-18T=) | |
15 | g.38350997A= | CA2170812534 | SPRED1 | c.685-17A= (n.685-17A=) c.721-17A= (n.721-17A=) c.463-17A= (n.463-17A=) c.622-17A= (n.622-17A=) | |
15 | g.38350997A>C | CA2627716201 | SPRED1 | c.685-17A>C (n.685-17A>C) c.721-17A>C (n.721-17A>C) c.463-17A>C (n.463-17A>C) c.622-17A>C (n.622-17A>C) | gnomAD v4 |
15 | g.38350997A>G | CA7470178 | SPRED1 | c.685-17A>G (n.685-17A>G) c.721-17A>G (n.721-17A>G) c.463-17A>G (n.463-17A>G) c.622-17A>G (n.622-17A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.38350997A>T | CA2170812533 | SPRED1 | c.685-17A>T (n.685-17A>T) c.721-17A>T (n.721-17A>T) c.463-17A>T (n.463-17A>T) c.622-17A>T (n.622-17A>T) | ClinVar dbSNP |
15 | g.38350997_38350999delinsATC | CA2170812535 | SPRED1 | c.685-17_685-15delinsATC (n.685-17_685-15delinsATC) c.721-17_721-15delinsATC (n.721-17_721-15delinsATC) c.463-17_463-15delinsATC (n.463-17_463-15delinsATC) c.622-17_622-15delinsATC (n.622-17_622-15delinsATC) | |
15 | g.38350999_38351000del | CA7470179 | SPRED1 | c.685-15_685-14del (n.685-15_685-14del) c.721-15_721-14del (n.721-15_721-14del) c.463-15_463-14del (n.463-15_463-14del) c.622-15_622-14del (n.622-15_622-14del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.38350999C= | CA2170812536 | SPRED1 | c.685-15C= (n.685-15C=) c.721-15C= (n.721-15C=) c.463-15C= (n.463-15C=) c.622-15C= (n.622-15C=) | |
15 | g.38350999C>G | CA7470180 | SPRED1 | c.685-15C>G (n.685-15C>G) c.721-15C>G (n.721-15C>G) c.463-15C>G (n.463-15C>G) c.622-15C>G (n.622-15C>G) | dbSNP ExAC gnomAD v2 |
15 | g.38350999C>T | CA2840660286 | SPRED1 | c.685-15C>T (n.685-15C>T) c.721-15C>T (n.721-15C>T) c.463-15C>T (n.463-15C>T) c.622-15C>T (n.622-15C>T) | |
15 | g.38351001G>A | CA2575673315 | SPRED1 | c.685-13G>A (n.685-13G>A) c.721-13G>A (n.721-13G>A) c.463-13G>A (n.463-13G>A) c.622-13G>A (n.622-13G>A) | ClinVar gnomAD v4 |
15 | g.38351001G>C | CA2508221037 | SPRED1 | c.685-13G>C (n.685-13G>C) c.721-13G>C (n.721-13G>C) c.463-13G>C (n.463-13G>C) c.622-13G>C (n.622-13G>C) | gnomAD v4 |
15 | g.38351004dup | CA2627716202 | SPRED1 | c.685-10dup (n.685-10dup) c.721-10dup (n.721-10dup) c.463-10dup (n.463-10dup) c.622-10dup (n.622-10dup) | gnomAD v4 |
15 | g.38351004T>G | CA617505871 | SPRED1 | c.685-10T>G (n.685-10T>G) c.721-10T>G (n.721-10T>G) c.463-10T>G (n.463-10T>G) c.622-10T>G (n.622-10T>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.38351004T= | CA2170812537 | SPRED1 | c.685-10T= (n.685-10T=) c.721-10T= (n.721-10T=) c.463-10T= (n.463-10T=) c.622-10T= (n.622-10T=) | |
15 | g.38351005C= | CA2170812538 | SPRED1 | c.685-9C= (n.685-9C=) c.721-9C= (n.721-9C=) c.463-9C= (n.463-9C=) c.622-9C= (n.622-9C=) | |
15 | g.38351005C>T | CA269293436 | SPRED1 | c.685-9C>T (n.685-9C>T) c.721-9C>T (n.721-9C>T) c.463-9C>T (n.463-9C>T) c.622-9C>T (n.622-9C>T) | dbSNP |
15 | g.38351006T>C | CA7470181 | SPRED1 | c.685-8T>C (n.685-8T>C) c.721-8T>C (n.721-8T>C) c.463-8T>C (n.463-8T>C) c.622-8T>C (n.622-8T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.38351006T= | CA2170812539 | SPRED1 | c.685-8T= (n.685-8T=) c.721-8T= (n.721-8T=) c.463-8T= (n.463-8T=) c.622-8T= (n.622-8T=) | |
15 | g.38351011del | CA2627716203 | SPRED1 | c.685-3del (n.685-3del) c.721-3del (n.721-3del) c.463-3del (n.463-3del) c.622-3del (n.622-3del) | gnomAD v4 |
15 | g.38351007T>C | CA7470182 | SPRED1 | c.685-7T>C (n.685-7T>C) c.721-7T>C (n.721-7T>C) c.463-7T>C (n.463-7T>C) c.622-7T>C (n.622-7T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.38351007T= | CA2170812540 | SPRED1 | c.685-7T= (n.685-7T=) c.721-7T= (n.721-7T=) c.463-7T= (n.463-7T=) c.622-7T= (n.622-7T=) | |
15 | g.38351008T>C | CA2627716204 | SPRED1 | c.685-6T>C (n.685-6T>C) c.721-6T>C (n.721-6T>C) c.463-6T>C (n.463-6T>C) c.622-6T>C (n.622-6T>C) | gnomAD v4 |
15 | g.38351011T>C | CA2840660287 | SPRED1 | c.685-3T>C (n.685-3T>C) c.721-3T>C (n.721-3T>C) c.463-3T>C (n.463-3T>C) c.622-3T>C (n.622-3T>C) | |
15 | g.38351012A>C | CA391933003 | SPRED1 | c.685-2A>C (n.685-2A>C) c.721-2A>C (n.721-2A>C) c.463-2A>C (n.463-2A>C) c.622-2A>C (n.622-2A>C) | |
15 | g.38351012A>G | CA391933004 | SPRED1 | c.685-2A>G (n.685-2A>G) c.721-2A>G (n.721-2A>G) c.463-2A>G (n.463-2A>G) c.622-2A>G (n.622-2A>G) | |
15 | g.38351012A>T | CA391933005 | SPRED1 | c.685-2A>T (n.685-2A>T) c.721-2A>T (n.721-2A>T) c.463-2A>T (n.463-2A>T) c.622-2A>T (n.622-2A>T) | |
15 | g.38351013G>A | CA391933006 | SPRED1 | c.685-1G>A (n.685-1G>A) c.721-1G>A (n.721-1G>A) c.463-1G>A (n.463-1G>A) c.622-1G>A (n.622-1G>A) | COSMIC |
15 | g.38351013G>C | CA391933007 | SPRED1 | c.685-1G>C (n.685-1G>C) c.721-1G>C (n.721-1G>C) c.463-1G>C (n.463-1G>C) c.622-1G>C (n.622-1G>C) | |
15 | g.38351013G= | CA2170812541 | SPRED1 | c.685-1G= (n.685-1G=) c.721-1G= (n.721-1G=) c.463-1G= (n.463-1G=) c.622-1G= (n.622-1G=) | |
15 | g.38351013G>T | CA269293437 | SPRED1 | c.685-1G>T (n.685-1G>T) c.721-1G>T (n.721-1G>T) c.463-1G>T (n.463-1G>T) c.622-1G>T (n.622-1G>T) | dbSNP |
15 | g.38351014G>A | CA269293439 | SPRED1 | c.685G>A (p.Val229Ile) c.721G>A (p.Val241Ile) c.463G>A (p.Val155Ile) c.622G>A (p.Val208Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.38351014G>C | CA391933008 | SPRED1 | c.685G>C (p.Val229Leu) c.721G>C (p.Val241Leu) c.463G>C (p.Val155Leu) c.622G>C (p.Val208Leu) | |
15 | g.38351014G= | CA2170812542 | SPRED1 | c.685G= (p.Val229=) c.721G= (p.Val241=) c.463G= (p.Val155=) c.622G= (p.Val208=) | |
15 | g.38351014G>T | CA269293438 | SPRED1 | c.685G>T (p.Val229Phe) c.721G>T (p.Val241Phe) c.463G>T (p.Val155Phe) c.622G>T (p.Val208Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.38351015T>A | CA391933011 | SPRED1 | c.686T>A (p.Val229Asp) c.722T>A (p.Val241Asp) c.464T>A (p.Val155Asp) c.623T>A (p.Val208Asp) | |
15 | g.38351015T>C | CA391933009 | SPRED1 | c.686T>C (p.Val229Ala) c.722T>C (p.Val241Ala) c.464T>C (p.Val155Ala) c.623T>C (p.Val208Ala) | dbSNP gnomAD v4 COSMIC |
15 | g.38351015T>G | CA391933010 | SPRED1 | c.686T>G (p.Val229Gly) c.722T>G (p.Val241Gly) c.464T>G (p.Val155Gly) c.623T>G (p.Val208Gly) | |
15 | g.38351015T= | CA2170812543 | SPRED1 | c.686T= (p.Val229=) c.722T= (p.Val241=) c.464T= (p.Val155=) c.623T= (p.Val208=) | |
15 | g.38351016C>A | CA7470183 | SPRED1 | c.687C>A (p.Val229=) c.723C>A (p.Val241=) c.465C>A (p.Val155=) c.624C>A (p.Val208=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.38351016C= | CA2170812544 | SPRED1 | c.687C= (p.Val229=) c.723C= (p.Val241=) c.465C= (p.Val155=) c.624C= (p.Val208=) | |
15 | g.38351016C>G | CA489922881 | SPRED1 | c.687C>G (p.Val229=) c.723C>G (p.Val241=) c.465C>G (p.Val155=) c.624C>G (p.Val208=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.38351016C>T | CA489922882 | SPRED1 | c.687C>T (p.Val229=) c.723C>T (p.Val241=) c.465C>T (p.Val155=) c.624C>T (p.Val208=) | ClinVar dbSNP gnomAD v4 |
15 | g.38351017C>A | CA391933012 | SPRED1 | c.688C>A (p.Pro230Thr) c.724C>A (p.Pro242Thr) c.466C>A (p.Pro156Thr) c.625C>A (p.Pro209Thr) | |
15 | g.38351017C= | CA2170812545 | SPRED1 | c.688C= (p.Pro230=) c.724C= (p.Pro242=) c.466C= (p.Pro156=) c.625C= (p.Pro209=) | |
15 | g.38351017C>G | CA391933013 | SPRED1 | c.688C>G (p.Pro230Ala) c.724C>G (p.Pro242Ala) c.466C>G (p.Pro156Ala) c.625C>G (p.Pro209Ala) | |
15 | g.38351017C>T | CA391933014 | SPRED1 | c.688C>T (p.Pro230Ser) c.724C>T (p.Pro242Ser) c.466C>T (p.Pro156Ser) c.625C>T (p.Pro209Ser) | dbSNP COSMIC |
15 | g.38351018C>A | CA391933015 | SPRED1 | c.689C>A (p.Pro230His) c.725C>A (p.Pro242His) c.467C>A (p.Pro156His) c.626C>A (p.Pro209His) | COSMIC |
15 | g.38351018C>G | CA391933016 | SPRED1 | c.689C>G (p.Pro230Arg) c.725C>G (p.Pro242Arg) c.467C>G (p.Pro156Arg) c.626C>G (p.Pro209Arg) | ClinVar dbSNP |
15 | g.38351018C>T | CA391933017 | SPRED1 | c.689C>T (p.Pro230Leu) c.725C>T (p.Pro242Leu) c.467C>T (p.Pro156Leu) c.626C>T (p.Pro209Leu) | |
15 | g.38351019T>A | CA489922883 | SPRED1 | c.690T>A (p.Pro230=) c.726T>A (p.Pro242=) c.468T>A (p.Pro156=) c.627T>A (p.Pro209=) | |
15 | g.38351019T>C | CA489922884 | SPRED1 | c.690T>C (p.Pro230=) c.726T>C (p.Pro242=) c.468T>C (p.Pro156=) c.627T>C (p.Pro209=) | |
15 | g.38351019T>G | CA489922885 | SPRED1 | c.690T>G (p.Pro230=) c.726T>G (p.Pro242=) c.468T>G (p.Pro156=) c.627T>G (p.Pro209=) | |
15 | g.38351021del | CA2573150669 | SPRED1 | c.692del (p.Leu231Ter) c.728del (p.Leu243Ter) c.470del (p.Leu157Ter) c.629del (p.Leu210Ter) | ClinVar dbSNP |
15 | g.38351020T>A | CA391933018 | SPRED1 | c.691T>A (p.Leu231Met) c.727T>A (p.Leu243Met) c.469T>A (p.Leu157Met) c.628T>A (p.Leu210Met) | |
15 | g.38351020T>C | CA489922886 | SPRED1 | c.691T>C (p.Leu231=) c.727T>C (p.Leu243=) c.469T>C (p.Leu157=) c.628T>C (p.Leu210=) | |
15 | g.38351020T>G | CA391933019 | SPRED1 | c.691T>G (p.Leu231Val) c.727T>G (p.Leu243Val) c.469T>G (p.Leu157Val) c.628T>G (p.Leu210Val) | |
15 | g.38351021T>A | CA391933020 | SPRED1 | c.692T>A (p.Leu231Ter) c.728T>A (p.Leu243Ter) c.470T>A (p.Leu157Ter) c.629T>A (p.Leu210Ter) | |
15 | g.38351021T>C | CA391933021 | SPRED1 | c.692T>C (p.Leu231Ser) c.728T>C (p.Leu243Ser) c.470T>C (p.Leu157Ser) c.629T>C (p.Leu210Ser) | |
15 | g.38351021T>G | CA391933022 | SPRED1 | c.692T>G (p.Leu231Trp) c.728T>G (p.Leu243Trp) c.470T>G (p.Leu157Trp) c.629T>G (p.Leu210Trp) | |
15 | g.38351022G>A | CA489922888 | SPRED1 | c.693G>A (p.Leu231=) c.729G>A (p.Leu243=) c.471G>A (p.Leu157=) c.630G>A (p.Leu210=) | |
15 | g.38351022G>C | CA391933024 | SPRED1 | c.693G>C (p.Leu231Phe) c.729G>C (p.Leu243Phe) c.471G>C (p.Leu157Phe) c.630G>C (p.Leu210Phe) | |
15 | g.38351022G>T | CA391933023 | SPRED1 | c.693G>T (p.Leu231Phe) c.729G>T (p.Leu243Phe) c.471G>T (p.Leu157Phe) c.630G>T (p.Leu210Phe) | |
15 | g.38351023A>C | CA391933025 | SPRED1 | c.694A>C (p.Lys232Gln) c.730A>C (p.Lys244Gln) c.472A>C (p.Lys158Gln) c.631A>C (p.Lys211Gln) | |
15 | g.38351023A>G | CA391933027 | SPRED1 | c.694A>G (p.Lys232Glu) c.730A>G (p.Lys244Glu) c.472A>G (p.Lys158Glu) c.631A>G (p.Lys211Glu) | |
15 | g.38351023A>T | CA391933026 | SPRED1 | c.694A>T (p.Lys232Ter) c.730A>T (p.Lys244Ter) c.472A>T (p.Lys158Ter) c.631A>T (p.Lys211Ter) | |
15 | g.38351025del | CA2697554334 | SPRED1 | c.696del (p.Lys232AsnfsTer17) c.732del (p.Lys244AsnfsTer17) c.474del (p.Lys158AsnfsTer17) c.633del (p.Lys211AsnfsTer17) | ClinVar |
15 | g.38351024A>C | CA391933028 | SPRED1 | c.695A>C (p.Lys232Thr) c.731A>C (p.Lys244Thr) c.473A>C (p.Lys158Thr) c.632A>C (p.Lys211Thr) | |
15 | g.38351024A>G | CA391933030 | SPRED1 | c.695A>G (p.Lys232Arg) c.731A>G (p.Lys244Arg) c.473A>G (p.Lys158Arg) c.632A>G (p.Lys211Arg) | |
15 | g.38351024A>T | CA391933029 | SPRED1 | c.695A>T (p.Lys232Ile) c.731A>T (p.Lys244Ile) c.473A>T (p.Lys158Ile) c.632A>T (p.Lys211Ile) | |
15 | g.38351029_38351032del | CA658761273 | SPRED1 | c.700_703del (p.Ile234AspfsTer14) c.736_739del (p.Ile246AspfsTer14) c.478_481del (p.Ile160AspfsTer14) c.637_640del (p.Ile213AspfsTer14) | |
15 | g.38351025A= | CA2170812546 | SPRED1 | c.696A= (p.Lys232=) c.732A= (p.Lys244=) c.474A= (p.Lys158=) c.633A= (p.Lys211=) | |
15 | g.38351025A>C | CA391933031 | SPRED1 | c.696A>C (p.Lys232Asn) c.732A>C (p.Lys244Asn) c.474A>C (p.Lys158Asn) c.633A>C (p.Lys211Asn) | |
15 | g.38351025A>G | CA7470184 | SPRED1 | c.696A>G (p.Lys232=) c.732A>G (p.Lys244=) c.474A>G (p.Lys158=) c.633A>G (p.Lys211=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.38351025A>T | CA391933032 | SPRED1 | c.696A>T (p.Lys232Asn) c.732A>T (p.Lys244Asn) c.474A>T (p.Lys158Asn) c.633A>T (p.Lys211Asn) | |
15 | g.38351026T>A | CA391933033 | SPRED1 | c.697T>A (p.Ser233Thr) c.733T>A (p.Ser245Thr) c.475T>A (p.Ser159Thr) c.634T>A (p.Ser212Thr) | |
15 | g.38351026T>C | CA391933034 | SPRED1 | c.697T>C (p.Ser233Pro) c.733T>C (p.Ser245Pro) c.475T>C (p.Ser159Pro) c.634T>C (p.Ser212Pro) | gnomAD v4 |
15 | g.38351026T>G | CA391933035 | SPRED1 | c.697T>G (p.Ser233Ala) c.733T>G (p.Ser245Ala) c.475T>G (p.Ser159Ala) c.634T>G (p.Ser212Ala) | |
15 | g.38351027C>A | CA391933036 | SPRED1 | c.698C>A (p.Ser233Ter) c.734C>A (p.Ser245Ter) c.476C>A (p.Ser159Ter) c.635C>A (p.Ser212Ter) | gnomAD v4 |
15 | g.38351027C= | CA2170812547 | SPRED1 | c.698C= (p.Ser233=) c.734C= (p.Ser245=) c.476C= (p.Ser159=) c.635C= (p.Ser212=) | |
15 | g.38351027C>G | CA391933037 | SPRED1 | c.698C>G (p.Ser233Ter) c.734C>G (p.Ser245Ter) c.476C>G (p.Ser159Ter) c.635C>G (p.Ser212Ter) | |
15 | g.38351027C>T | CA391933038 | SPRED1 | c.698C>T (p.Ser233Leu) c.734C>T (p.Ser245Leu) c.476C>T (p.Ser159Leu) c.635C>T (p.Ser212Leu) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.38351028A>C | CA489922894 | SPRED1 | c.699A>C (p.Ser233=) c.735A>C (p.Ser245=) c.477A>C (p.Ser159=) c.636A>C (p.Ser212=) | |
15 | g.38351028A>G | CA489922893 | SPRED1 | c.699A>G (p.Ser233=) c.735A>G (p.Ser245=) c.477A>G (p.Ser159=) c.636A>G (p.Ser212=) | |
15 | g.38351028A>T | CA489922892 | SPRED1 | c.699A>T (p.Ser233=) c.735A>T (p.Ser245=) c.477A>T (p.Ser159=) c.636A>T (p.Ser212=) | |
15 | g.38351029dup | CA658761274 | SPRED1 | c.700dup (p.Ile234AsnfsTer9) c.736dup (p.Ile246AsnfsTer9) c.478dup (p.Ile160AsnfsTer9) c.637dup (p.Ile213AsnfsTer9) | |
15 | g.38351029A= | CA2170812548 | SPRED1 | c.700A= (p.Ile234=) c.736A= (p.Ile246=) c.478A= (p.Ile160=) c.637A= (p.Ile213=) | |
15 | g.38351029A>C | CA391933039 | SPRED1 | c.700A>C (p.Ile234Leu) c.736A>C (p.Ile246Leu) c.478A>C (p.Ile160Leu) c.637A>C (p.Ile213Leu) | |
15 | g.38351029A>G | CA391933040 | SPRED1 | c.700A>G (p.Ile234Val) c.736A>G (p.Ile246Val) c.478A>G (p.Ile160Val) c.637A>G (p.Ile213Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.38351029A>T | CA391933041 | SPRED1 | c.700A>T (p.Ile234Phe) c.736A>T (p.Ile246Phe) c.478A>T (p.Ile160Phe) c.637A>T (p.Ile213Phe) | gnomAD v4 |
15 | g.38351030T>A | CA391933042 | SPRED1 | c.701T>A (p.Ile234Asn) c.737T>A (p.Ile246Asn) c.479T>A (p.Ile160Asn) c.638T>A (p.Ile213Asn) | |
15 | g.38351030T>C | CA391933043 | SPRED1 | c.701T>C (p.Ile234Thr) c.737T>C (p.Ile246Thr) c.479T>C (p.Ile160Thr) c.638T>C (p.Ile213Thr) | |
15 | g.38351030T>G | CA391933044 | SPRED1 | c.701T>G (p.Ile234Ser) c.737T>G (p.Ile246Ser) c.479T>G (p.Ile160Ser) c.638T>G (p.Ile213Ser) | |
15 | g.38351031C>A | CA489922895 | SPRED1 | c.702C>A (p.Ile234=) c.738C>A (p.Ile246=) c.480C>A (p.Ile160=) c.639C>A (p.Ile213=) | |
15 | g.38351031C= | CA2170812549 | SPRED1 | c.702C= (p.Ile234=) c.738C= (p.Ile246=) c.480C= (p.Ile160=) c.639C= (p.Ile213=) | |
15 | g.38351031C>G | CA178031 | SPRED1 | c.702C>G (p.Ile234Met) c.738C>G (p.Ile246Met) c.480C>G (p.Ile160Met) c.639C>G (p.Ile213Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.38351031C>T | CA489922896 | SPRED1 | c.702C>T (p.Ile234=) c.738C>T (p.Ile246=) c.480C>T (p.Ile160=) c.639C>T (p.Ile213=) | gnomAD v4 |
15 | g.38351032A= | CA2170812550 | SPRED1 | c.703A= (p.Arg235=) c.739A= (p.Arg247=) c.481A= (p.Arg161=) c.640A= (p.Arg214=) | |
15 | g.38351032A>C | CA489922897 | SPRED1 | c.703A>C (p.Arg235=) c.739A>C (p.Arg247=) c.481A>C (p.Arg161=) c.640A>C (p.Arg214=) | ClinVar dbSNP |
15 | g.38351032A>G | CA391933045 | SPRED1 | c.703A>G (p.Arg235Gly) c.739A>G (p.Arg247Gly) c.481A>G (p.Arg161Gly) c.640A>G (p.Arg214Gly) | dbSNP |
15 | g.38351032A>T | CA391933046 | SPRED1 | c.703A>T (p.Arg235Ter) c.739A>T (p.Arg247Ter) c.481A>T (p.Arg161Ter) c.640A>T (p.Arg214Ter) | |
15 | g.38351033G>A | CA391933047 | SPRED1 | c.704G>A (p.Arg235Lys) c.740G>A (p.Arg247Lys) c.482G>A (p.Arg161Lys) c.641G>A (p.Arg214Lys) | |
15 | g.38351033G>C | CA391933048 | SPRED1 | c.704G>C (p.Arg235Thr) c.740G>C (p.Arg247Thr) c.482G>C (p.Arg161Thr) c.641G>C (p.Arg214Thr) | |
15 | g.38351033G>T | CA391933049 | SPRED1 | c.704G>T (p.Arg235Ile) c.740G>T (p.Arg247Ile) c.482G>T (p.Arg161Ile) c.641G>T (p.Arg214Ile) | |
15 | g.38351034A>C | CA391933050 | SPRED1 | c.705A>C (p.Arg235Ser) c.741A>C (p.Arg247Ser) c.483A>C (p.Arg161Ser) c.642A>C (p.Arg214Ser) | |
15 | g.38351034A>G | CA489922898 | SPRED1 | c.705A>G (p.Arg235=) c.741A>G (p.Arg247=) c.483A>G (p.Arg161=) c.642A>G (p.Arg214=) | dbSNP |
15 | g.38351034A>T | CA391933051 | SPRED1 | c.705A>T (p.Arg235Ser) c.741A>T (p.Arg247Ser) c.483A>T (p.Arg161Ser) c.642A>T (p.Arg214Ser) | |
15 | g.38351035C>A | CA391933052 | SPRED1 | c.706C>A (p.His236Asn) c.742C>A (p.His248Asn) c.484C>A (p.His162Asn) c.643C>A (p.His215Asn) | |
15 | g.38351035C>G | CA391933053 | SPRED1 | c.706C>G (p.His236Asp) c.742C>G (p.His248Asp) c.484C>G (p.His162Asp) c.643C>G (p.His215Asp) | |
15 | g.38351035C>T | CA391933054 | SPRED1 | c.706C>T (p.His236Tyr) c.742C>T (p.His248Tyr) c.484C>T (p.His162Tyr) c.643C>T (p.His215Tyr) | ClinVar |
15 | g.38351036A= | CA2170812551 | SPRED1 | c.707A= (p.His236=) c.743A= (p.His248=) c.485A= (p.His162=) c.644A= (p.His215=) | |
15 | g.38351036A>C | CA391933055 | SPRED1 | c.707A>C (p.His236Pro) c.743A>C (p.His248Pro) c.485A>C (p.His162Pro) c.644A>C (p.His215Pro) | |
15 | g.38351036A>G | CA10635891 | SPRED1 | c.707A>G (p.His236Arg) c.743A>G (p.His248Arg) c.485A>G (p.His162Arg) c.644A>G (p.His215Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.38351036A>T | CA391933056 | SPRED1 | c.707A>T (p.His236Leu) c.743A>T (p.His248Leu) c.485A>T (p.His162Leu) c.644A>T (p.His215Leu) | gnomAD v4 |
15 | g.38351037T>A | CA391933057 | SPRED1 | c.708T>A (p.His236Gln) c.744T>A (p.His248Gln) c.486T>A (p.His162Gln) c.645T>A (p.His215Gln) | |
15 | g.38351037T>C | CA489922900 | SPRED1 | c.708T>C (p.His236=) c.744T>C (p.His248=) c.486T>C (p.His162=) c.645T>C (p.His215=) | dbSNP |
15 | g.38351037T>G | CA391933058 | SPRED1 | c.708T>G (p.His236Gln) c.744T>G (p.His248Gln) c.486T>G (p.His162Gln) c.645T>G (p.His215Gln) | gnomAD v4 |
15 | g.38351037T= | CA2170812552 | SPRED1 | c.708T= (p.His236=) c.744T= (p.His248=) c.486T= (p.His162=) c.645T= (p.His215=) | |
15 | g.38351038_38351039dup | CA2575673316 | SPRED1 | c.709_710dup (p.Phe239AlafsTer11) c.745_746dup (p.Phe251AlafsTer11) c.487_488dup (p.Phe165AlafsTer11) c.646_647dup (p.Phe218AlafsTer11) | |
15 | g.38351038G>A | CA269293440 | SPRED1 | c.709G>A (p.Val237Ile) c.745G>A (p.Val249Ile) c.487G>A (p.Val163Ile) c.646G>A (p.Val216Ile) | dbSNP gnomAD v4 |
15 | g.38351038G>C | CA391933059 | SPRED1 | c.709G>C (p.Val237Leu) c.745G>C (p.Val249Leu) c.487G>C (p.Val163Leu) c.646G>C (p.Val216Leu) | |
15 | g.38351038G= | CA2170812553 | SPRED1 | c.709G= (p.Val237=) c.745G= (p.Val249=) c.487G= (p.Val163=) c.646G= (p.Val216=) | |
15 | g.38351038G>T | CA391933060 | SPRED1 | c.709G>T (p.Val237Phe) c.745G>T (p.Val249Phe) c.487G>T (p.Val163Phe) c.646G>T (p.Val216Phe) | |
15 | g.38351039T>A | CA391933061 | SPRED1 | c.710T>A (p.Val237Asp) c.746T>A (p.Val249Asp) c.488T>A (p.Val163Asp) c.647T>A (p.Val216Asp) | |
15 | g.38351039T>C | CA391933062 | SPRED1 | c.710T>C (p.Val237Ala) c.746T>C (p.Val249Ala) c.488T>C (p.Val163Ala) c.647T>C (p.Val216Ala) | |
15 | g.38351039T>G | CA391933063 | SPRED1 | c.710T>G (p.Val237Gly) c.746T>G (p.Val249Gly) c.488T>G (p.Val163Gly) c.647T>G (p.Val216Gly) | |
15 | g.38351040C>A | CA489922901 | SPRED1 | c.711C>A (p.Val237=) c.747C>A (p.Val249=) c.489C>A (p.Val163=) c.648C>A (p.Val216=) | |
15 | g.38351040C>G | CA489922902 | SPRED1 | c.711C>G (p.Val237=) c.747C>G (p.Val249=) c.489C>G (p.Val163=) c.648C>G (p.Val216=) | |
15 | g.38351040C>T | CA489922903 | SPRED1 | c.711C>T (p.Val237=) c.747C>T (p.Val249=) c.489C>T (p.Val163=) c.648C>T (p.Val216=) | |
15 | g.38351041A= | CA2170812554 | SPRED1 | c.712A= (p.Ser238=) c.748A= (p.Ser250=) c.490A= (p.Ser164=) c.649A= (p.Ser217=) | |
15 | g.38351041A>C | CA391933065 | SPRED1 | c.712A>C (p.Ser238Arg) c.748A>C (p.Ser250Arg) c.490A>C (p.Ser164Arg) c.649A>C (p.Ser217Arg) | |
15 | g.38351041A>G | CA7470185 | SPRED1 | c.712A>G (p.Ser238Gly) c.748A>G (p.Ser250Gly) c.490A>G (p.Ser164Gly) c.649A>G (p.Ser217Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.38351041A>T | CA391933064 | SPRED1 | c.712A>T (p.Ser238Cys) c.748A>T (p.Ser250Cys) c.490A>T (p.Ser164Cys) c.649A>T (p.Ser217Cys) | |
15 | g.38351042G>A | CA391933066 | SPRED1 | c.713G>A (p.Ser238Asn) c.749G>A (p.Ser250Asn) c.491G>A (p.Ser164Asn) c.650G>A (p.Ser217Asn) | |
15 | g.38351042G>C | CA391933067 | SPRED1 | c.713G>C (p.Ser238Thr) c.749G>C (p.Ser250Thr) c.491G>C (p.Ser164Thr) c.650G>C (p.Ser217Thr) | |
15 | g.38351042G>T | CA391933068 | SPRED1 | c.713G>T (p.Ser238Ile) c.749G>T (p.Ser250Ile) c.491G>T (p.Ser164Ile) c.650G>T (p.Ser217Ile) | |
15 | g.38351043C>A | CA391933069 | SPRED1 | c.714C>A (p.Ser238Arg) c.750C>A (p.Ser250Arg) c.492C>A (p.Ser164Arg) c.651C>A (p.Ser217Arg) | |
15 | g.38351043C>G | CA391933070 | SPRED1 | c.714C>G (p.Ser238Arg) c.750C>G (p.Ser250Arg) c.492C>G (p.Ser164Arg) c.651C>G (p.Ser217Arg) | |
15 | g.38351043C>T | CA489922904 | SPRED1 | c.714C>T (p.Ser238=) c.750C>T (p.Ser250=) c.492C>T (p.Ser164=) c.651C>T (p.Ser217=) | |
15 | g.38351044T>A | CA391933071 | SPRED1 | c.715T>A (p.Phe239Ile) c.751T>A (p.Phe251Ile) c.493T>A (p.Phe165Ile) c.652T>A (p.Phe218Ile) | |
15 | g.38351044T>C | CA391933073 | SPRED1 | c.715T>C (p.Phe239Leu) c.751T>C (p.Phe251Leu) c.493T>C (p.Phe165Leu) c.652T>C (p.Phe218Leu) | |
15 | g.38351044T>G | CA391933072 | SPRED1 | c.715T>G (p.Phe239Val) c.751T>G (p.Phe251Val) c.493T>G (p.Phe165Val) c.652T>G (p.Phe218Val) | |
15 | g.38351045T>A | CA391933074 | SPRED1 | c.716T>A (p.Phe239Tyr) c.752T>A (p.Phe251Tyr) c.494T>A (p.Phe165Tyr) c.653T>A (p.Phe218Tyr) | |
15 | g.38351045T>C | CA391933075 | SPRED1 | c.716T>C (p.Phe239Ser) c.752T>C (p.Phe251Ser) c.494T>C (p.Phe165Ser) c.653T>C (p.Phe218Ser) | |
15 | g.38351045T>G | CA391933076 | SPRED1 | c.716T>G (p.Phe239Cys) c.752T>G (p.Phe251Cys) c.494T>G (p.Phe165Cys) c.653T>G (p.Phe218Cys) | |
15 | g.38351046T>A | CA391933077 | SPRED1 | c.717T>A (p.Phe239Leu) c.753T>A (p.Phe251Leu) c.495T>A (p.Phe165Leu) c.654T>A (p.Phe218Leu) | |
15 | g.38351046T>C | CA489922905 | SPRED1 | c.717T>C (p.Phe239=) c.753T>C (p.Phe251=) c.495T>C (p.Phe165=) c.654T>C (p.Phe218=) | |
15 | g.38351046T>G | CA391933078 | SPRED1 | c.717T>G (p.Phe239Leu) c.753T>G (p.Phe251Leu) c.495T>G (p.Phe165Leu) c.654T>G (p.Phe218Leu) | |
15 | g.38351047C>A | CA391933079 | SPRED1 | c.718C>A (p.Gln240Lys) c.754C>A (p.Gln252Lys) c.496C>A (p.Gln166Lys) c.655C>A (p.Gln219Lys) | |
15 | g.38351047C>G | CA391933080 | SPRED1 | c.718C>G (p.Gln240Glu) c.754C>G (p.Gln252Glu) c.496C>G (p.Gln166Glu) c.655C>G (p.Gln219Glu) | |
15 | g.38351047C>T | CA391933081 | SPRED1 | c.718C>T (p.Gln240Ter) c.754C>T (p.Gln252Ter) c.496C>T (p.Gln166Ter) c.655C>T (p.Gln219Ter) | |
15 | g.38351048A>C | CA391933082 | SPRED1 | c.719A>C (p.Gln240Pro) c.755A>C (p.Gln252Pro) c.497A>C (p.Gln166Pro) c.656A>C (p.Gln219Pro) | |
15 | g.38351048A>G | CA391933083 | SPRED1 | c.719A>G (p.Gln240Arg) c.755A>G (p.Gln252Arg) c.497A>G (p.Gln166Arg) c.656A>G (p.Gln219Arg) | |
15 | g.38351048A>T | CA391933084 | SPRED1 | c.719A>T (p.Gln240Leu) c.755A>T (p.Gln252Leu) c.497A>T (p.Gln166Leu) c.656A>T (p.Gln219Leu) | |
15 | g.38351048_38351054del | CA2739279995 | SPRED1 | c.719_725del (p.Gln240ArgfsTer7) c.755_761del (p.Gln252ArgfsTer7) c.497_503del (p.Gln166ArgfsTer7) c.656_662del (p.Gln219ArgfsTer7) | ClinVar |
15 | g.38351049A>C | CA391933085 | SPRED1 | c.720A>C (p.Gln240His) c.756A>C (p.Gln252His) c.498A>C (p.Gln166His) c.657A>C (p.Gln219His) | |
15 | g.38351049A>G | CA489922906 | SPRED1 | c.720A>G (p.Gln240=) c.756A>G (p.Gln252=) c.498A>G (p.Gln166=) c.657A>G (p.Gln219=) | |
15 | g.38351049A>T | CA391933086 | SPRED1 | c.720A>T (p.Gln240His) c.756A>T (p.Gln252His) c.498A>T (p.Gln166His) c.657A>T (p.Gln219His) | |
15 | g.38351050G>A | CA391933087 | SPRED1 | c.721G>A (p.Asp241Asn) c.757G>A (p.Asp253Asn) c.499G>A (p.Asp167Asn) c.658G>A (p.Asp220Asn) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.38351050G>C | CA391933089 | SPRED1 | c.721G>C (p.Asp241His) c.757G>C (p.Asp253His) c.499G>C (p.Asp167His) c.658G>C (p.Asp220His) | ClinVar |
15 | g.38351050G= | CA2170812555 | SPRED1 | c.721G= (p.Asp241=) c.757G= (p.Asp253=) c.499G= (p.Asp167=) c.658G= (p.Asp220=) | |
15 | g.38351050G>T | CA391933088 | SPRED1 | c.721G>T (p.Asp241Tyr) c.757G>T (p.Asp253Tyr) c.499G>T (p.Asp167Tyr) c.658G>T (p.Asp220Tyr) | |
15 | g.38351051A>C | CA391933090 | SPRED1 | c.722A>C (p.Asp241Ala) c.758A>C (p.Asp253Ala) c.500A>C (p.Asp167Ala) c.659A>C (p.Asp220Ala) | |
15 | g.38351051A>G | CA391933091 | SPRED1 | c.722A>G (p.Asp241Gly) c.758A>G (p.Asp253Gly) c.500A>G (p.Asp167Gly) c.659A>G (p.Asp220Gly) | ClinVar dbSNP |
15 | g.38351051A>T | CA391933092 | SPRED1 | c.722A>T (p.Asp241Val) c.758A>T (p.Asp253Val) c.500A>T (p.Asp167Val) c.659A>T (p.Asp220Val) | |
15 | g.38351052T>A | CA391933093 | SPRED1 | c.723T>A (p.Asp241Glu) c.759T>A (p.Asp253Glu) c.501T>A (p.Asp167Glu) c.660T>A (p.Asp220Glu) | |
15 | g.38351052T>C | CA489922907 | SPRED1 | c.723T>C (p.Asp241=) c.759T>C (p.Asp253=) c.501T>C (p.Asp167=) c.660T>C (p.Asp220=) | |
15 | g.38351052T>G | CA391933094 | SPRED1 | c.723T>G (p.Asp241Glu) c.759T>G (p.Asp253Glu) c.501T>G (p.Asp167Glu) c.660T>G (p.Asp220Glu) | |
15 | g.38351053G>A | CA391933095 | SPRED1 | c.724G>A (p.Glu242Lys) c.760G>A (p.Glu254Lys) c.502G>A (p.Glu168Lys) c.661G>A (p.Glu221Lys) | gnomAD v4 |
15 | g.38351053G>C | CA391933096 | SPRED1 | c.724G>C (p.Glu242Gln) c.760G>C (p.Glu254Gln) c.502G>C (p.Glu168Gln) c.661G>C (p.Glu221Gln) | |
15 | g.38351053G>T | CA391933097 | SPRED1 | c.724G>T (p.Glu242Ter) c.760G>T (p.Glu254Ter) c.502G>T (p.Glu168Ter) c.661G>T (p.Glu221Ter) | ClinVar |
15 | g.38351054A>C | CA391933098 | SPRED1 | c.725A>C (p.Glu242Ala) c.761A>C (p.Glu254Ala) c.503A>C (p.Glu168Ala) c.662A>C (p.Glu221Ala) | |
15 | g.38351054A>G | CA391933099 | SPRED1 | c.725A>G (p.Glu242Gly) c.761A>G (p.Glu254Gly) c.503A>G (p.Glu168Gly) c.662A>G (p.Glu221Gly) | |
15 | g.38351054A>T | CA391933100 | SPRED1 | c.725A>T (p.Glu242Val) c.761A>T (p.Glu254Val) c.503A>T (p.Glu168Val) c.662A>T (p.Glu221Val) | |
15 | g.38351055G>A | CA489922908 | SPRED1 | c.726G>A (p.Glu242=) c.762G>A (p.Glu254=) c.504G>A (p.Glu168=) c.663G>A (p.Glu221=) | gnomAD v4 |
15 | g.38351055G>C | CA391933101 | SPRED1 | c.726G>C (p.Glu242Asp) c.762G>C (p.Glu254Asp) c.504G>C (p.Glu168Asp) c.663G>C (p.Glu221Asp) | |
15 | g.38351055G>T | CA391933102 | SPRED1 | c.726G>T (p.Glu242Asp) c.762G>T (p.Glu254Asp) c.504G>T (p.Glu168Asp) c.663G>T (p.Glu221Asp) | |
15 | g.38351056G>A | CA391933103 | SPRED1 | c.727G>A (p.Asp243Asn) c.763G>A (p.Asp255Asn) c.505G>A (p.Asp169Asn) c.664G>A (p.Asp222Asn) | |
15 | g.38351056G>C | CA391933105 | SPRED1 | c.727G>C (p.Asp243His) c.763G>C (p.Asp255His) c.505G>C (p.Asp169His) c.664G>C (p.Asp222His) | |
15 | g.38351056G>T | CA391933104 | SPRED1 | c.727G>T (p.Asp243Tyr) c.763G>T (p.Asp255Tyr) c.505G>T (p.Asp169Tyr) c.664G>T (p.Asp222Tyr) | |
15 | g.38351057A>C | CA391933106 | SPRED1 | c.728A>C (p.Asp243Ala) c.764A>C (p.Asp255Ala) c.506A>C (p.Asp169Ala) c.665A>C (p.Asp222Ala) | |
15 | g.38351057A>G | CA391933107 | SPRED1 | c.728A>G (p.Asp243Gly) c.764A>G (p.Asp255Gly) c.506A>G (p.Asp169Gly) c.665A>G (p.Asp222Gly) | |
15 | g.38351057A>T | CA391933108 | SPRED1 | c.728A>T (p.Asp243Val) c.764A>T (p.Asp255Val) c.506A>T (p.Asp169Val) c.665A>T (p.Asp222Val) | |
15 | g.38351058T>A | CA391933109 | SPRED1 | c.729T>A (p.Asp243Glu) c.765T>A (p.Asp255Glu) c.507T>A (p.Asp169Glu) c.666T>A (p.Asp222Glu) | |
15 | g.38351058T>C | CA489922909 | SPRED1 | c.729T>C (p.Asp243=) c.765T>C (p.Asp255=) c.507T>C (p.Asp169=) c.666T>C (p.Asp222=) | |
15 | g.38351058T>G | CA391933110 | SPRED1 | c.729T>G (p.Asp243Glu) c.765T>G (p.Asp255Glu) c.507T>G (p.Asp169Glu) c.666T>G (p.Asp222Glu) | gnomAD v4 |
15 | g.38351059G>A | CA391933111 | SPRED1 | c.730G>A (p.Glu244Lys) c.766G>A (p.Glu256Lys) c.508G>A (p.Glu170Lys) c.667G>A (p.Glu223Lys) | |
15 | g.38351059G>C | CA391933112 | SPRED1 | c.730G>C (p.Glu244Gln) c.766G>C (p.Glu256Gln) c.508G>C (p.Glu170Gln) c.667G>C (p.Glu223Gln) | |
15 | g.38351059G>T | CA391933113 | SPRED1 | c.730G>T (p.Glu244Ter) c.766G>T (p.Glu256Ter) c.508G>T (p.Glu170Ter) c.667G>T (p.Glu223Ter) | |
15 | g.38351060A= | CA2170812556 | SPRED1 | c.731A= (p.Glu244=) c.767A= (p.Glu256=) c.509A= (p.Glu170=) c.668A= (p.Glu223=) | |
15 | g.38351060A>C | CA391933114 | SPRED1 | c.731A>C (p.Glu244Ala) c.767A>C (p.Glu256Ala) c.509A>C (p.Glu170Ala) c.668A>C (p.Glu223Ala) | |
15 | g.38351060A>G | CA269293441 | SPRED1 | c.731A>G (p.Glu244Gly) c.767A>G (p.Glu256Gly) c.509A>G (p.Glu170Gly) c.668A>G (p.Glu223Gly) | dbSNP gnomAD v4 |
15 | g.38351060A>T | CA391933115 | SPRED1 | c.731A>T (p.Glu244Val) c.767A>T (p.Glu256Val) c.509A>T (p.Glu170Val) c.668A>T (p.Glu223Val) | |
15 | g.38351061G>A | CA489922910 | SPRED1 | c.732G>A (p.Glu244=) c.768G>A (p.Glu256=) c.510G>A (p.Glu170=) c.669G>A (p.Glu223=) | dbSNP |
15 | g.38351061G>C | CA391933116 | SPRED1 | c.732G>C (p.Glu244Asp) c.768G>C (p.Glu256Asp) c.510G>C (p.Glu170Asp) c.669G>C (p.Glu223Asp) | |
15 | g.38351061G= | CA2170812557 | SPRED1 | c.732G= (p.Glu244=) c.768G= (p.Glu256=) c.510G= (p.Glu170=) c.669G= (p.Glu223=) | |
15 | g.38351061G>T | CA391933117 | SPRED1 | c.732G>T (p.Glu244Asp) c.768G>T (p.Glu256Asp) c.510G>T (p.Glu170Asp) c.669G>T (p.Glu223Asp) | |
15 | g.38351062A>C | CA391933118 | SPRED1 | c.733A>C (p.Ile245Leu) c.769A>C (p.Ile257Leu) c.511A>C (p.Ile171Leu) c.670A>C (p.Ile224Leu) | |
15 | g.38351062A>G | CA391933119 | SPRED1 | c.733A>G (p.Ile245Val) c.769A>G (p.Ile257Val) c.511A>G (p.Ile171Val) c.670A>G (p.Ile224Val) | |
15 | g.38351062A>T | CA391933120 | SPRED1 | c.733A>T (p.Ile245Phe) c.769A>T (p.Ile257Phe) c.511A>T (p.Ile171Phe) c.670A>T (p.Ile224Phe) | |
15 | g.38351063T>A | CA391933121 | SPRED1 | c.734T>A (p.Ile245Asn) c.770T>A (p.Ile257Asn) c.512T>A (p.Ile171Asn) c.671T>A (p.Ile224Asn) | |
15 | g.38351063T>C | CA391933122 | SPRED1 | c.734T>C (p.Ile245Thr) c.770T>C (p.Ile257Thr) c.512T>C (p.Ile171Thr) c.671T>C (p.Ile224Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.38351063T>G | CA391933123 | SPRED1 | c.734T>G (p.Ile245Ser) c.770T>G (p.Ile257Ser) c.512T>G (p.Ile171Ser) c.671T>G (p.Ile224Ser) | |
15 | g.38351063T= | CA2170812558 | SPRED1 | c.734T= (p.Ile245=) c.770T= (p.Ile257=) c.512T= (p.Ile171=) c.671T= (p.Ile224=) | |
15 | g.38351064T>A | CA489922911 | SPRED1 | c.735T>A (p.Ile245=) c.771T>A (p.Ile257=) c.513T>A (p.Ile171=) c.672T>A (p.Ile224=) | |
15 | g.38351064T>C | CA489922912 | SPRED1 | c.735T>C (p.Ile245=) c.771T>C (p.Ile257=) c.513T>C (p.Ile171=) c.672T>C (p.Ile224=) | |
15 | g.38351064T>G | CA391933124 | SPRED1 | c.735T>G (p.Ile245Met) c.771T>G (p.Ile257Met) c.513T>G (p.Ile171Met) c.672T>G (p.Ile224Met) | |
15 | g.38351065G>A | CA391933125 | SPRED1 | c.736G>A (p.Val246Ile) c.772G>A (p.Val258Ile) c.514G>A (p.Val172Ile) c.673G>A (p.Val225Ile) | |
15 | g.38351065G>C | CA391933126 | SPRED1 | c.736G>C (p.Val246Leu) c.772G>C (p.Val258Leu) c.514G>C (p.Val172Leu) c.673G>C (p.Val225Leu) | |
15 | g.38351065G>T | CA391933127 | SPRED1 | c.736G>T (p.Val246Phe) c.772G>T (p.Val258Phe) c.514G>T (p.Val172Phe) c.673G>T (p.Val225Phe) | |
15 | g.38351066T>A | CA391933128 | SPRED1 | c.737T>A (p.Val246Asp) c.773T>A (p.Val258Asp) c.515T>A (p.Val172Asp) c.674T>A (p.Val225Asp) | |
15 | g.38351066T>C | CA391933129 | SPRED1 | c.737T>C (p.Val246Ala) c.773T>C (p.Val258Ala) c.515T>C (p.Val172Ala) c.674T>C (p.Val225Ala) | |
15 | g.38351066T>G | CA391933130 | SPRED1 | c.737T>G (p.Val246Gly) c.773T>G (p.Val258Gly) c.515T>G (p.Val172Gly) c.674T>G (p.Val225Gly) | |
15 | g.38351067C>A | CA489922914 | SPRED1 | c.738C>A (p.Val246=) c.774C>A (p.Val258=) c.516C>A (p.Val172=) c.675C>A (p.Val225=) | |
15 | g.38351067C= | CA2170812559 | SPRED1 | c.738C= (p.Val246=) c.774C= (p.Val258=) c.516C= (p.Val172=) c.675C= (p.Val225=) | |
15 | g.38351067C>G | CA489922915 | SPRED1 | c.738C>G (p.Val246=) c.774C>G (p.Val258=) c.516C>G (p.Val172=) c.675C>G (p.Val225=) | dbSNP COSMIC |
15 | g.38351067C>T | CA489922916 | SPRED1 | c.738C>T (p.Val246=) c.774C>T (p.Val258=) c.516C>T (p.Val172=) c.675C>T (p.Val225=) | |
15 | g.38351068del | CA968817823 | SPRED1 | c.739del (p.Arg247GlufsTer2) c.775del (p.Arg259GlufsTer2) c.517del (p.Arg173GlufsTer2) c.676del (p.Arg226GlufsTer2) | gnomAD v3 gnomAD v4 |
15 | g.38351068A>C | CA489922917 | SPRED1 | c.739A>C (p.Arg247=) c.775A>C (p.Arg259=) c.517A>C (p.Arg173=) c.676A>C (p.Arg226=) | |
15 | g.38351068A>G | CA391933132 | SPRED1 | c.739A>G (p.Arg247Gly) c.775A>G (p.Arg259Gly) c.517A>G (p.Arg173Gly) c.676A>G (p.Arg226Gly) | |
15 | g.38351068A>T | CA391933131 | SPRED1 | c.739A>T (p.Arg247Ter) c.775A>T (p.Arg259Ter) c.517A>T (p.Arg173Ter) c.676A>T (p.Arg226Ter) | |
15 | g.38351069G>A | CA391933133 | SPRED1 | c.740G>A (p.Arg247Lys) c.776G>A (p.Arg259Lys) c.518G>A (p.Arg173Lys) c.677G>A (p.Arg226Lys) | |
15 | g.38351069G>C | CA391933134 | SPRED1 | c.740G>C (p.Arg247Thr) c.776G>C (p.Arg259Thr) c.518G>C (p.Arg173Thr) c.677G>C (p.Arg226Thr) | |
15 | g.38351069G>T | CA391933135 | SPRED1 | c.740G>T (p.Arg247Ile) c.776G>T (p.Arg259Ile) c.518G>T (p.Arg173Ile) c.677G>T (p.Arg226Ile) | |
15 | g.38351070A>C | CA391933136 | SPRED1 | c.741A>C (p.Arg247Ser) c.777A>C (p.Arg259Ser) c.519A>C (p.Arg173Ser) c.678A>C (p.Arg226Ser) | |
15 | g.38351070A>G | CA489922919 | SPRED1 | c.741A>G (p.Arg247=) c.777A>G (p.Arg259=) c.519A>G (p.Arg173=) c.678A>G (p.Arg226=) | |
15 | g.38351070A>T | CA391933137 | SPRED1 | c.741A>T (p.Arg247Ser) c.777A>T (p.Arg259Ser) c.519A>T (p.Arg173Ser) c.678A>T (p.Arg226Ser) | |
15 | g.38351071A>C | CA391933138 | SPRED1 | c.742A>C (p.Ile248Leu) c.778A>C (p.Ile260Leu) c.520A>C (p.Ile174Leu) c.679A>C (p.Ile227Leu) | |
15 | g.38351071A>G | CA391933139 | SPRED1 | c.742A>G (p.Ile248Val) c.778A>G (p.Ile260Val) c.520A>G (p.Ile174Val) c.679A>G (p.Ile227Val) | |
15 | g.38351071A>T | CA391933140 | SPRED1 | c.742A>T (p.Ile248Leu) c.778A>T (p.Ile260Leu) c.520A>T (p.Ile174Leu) c.679A>T (p.Ile227Leu) | |
15 | g.38351072T>A | CA391933141 | SPRED1 | c.743T>A (p.Ile248Lys) c.779T>A (p.Ile260Lys) c.521T>A (p.Ile174Lys) c.680T>A (p.Ile227Lys) | |
15 | g.38351072T>C | CA391933142 | SPRED1 | c.743T>C (p.Ile248Thr) c.779T>C (p.Ile260Thr) c.521T>C (p.Ile174Thr) c.680T>C (p.Ile227Thr) | |
15 | g.38351072T>G | CA391933143 | SPRED1 | c.743T>G (p.Ile248Arg) c.779T>G (p.Ile260Arg) c.521T>G (p.Ile174Arg) c.680T>G (p.Ile227Arg) | |
15 | g.38351073A>C | CA489922920 | SPRED1 | c.744A>C (p.Ile248=) c.780A>C (p.Ile260=) c.522A>C (p.Ile174=) c.681A>C (p.Ile227=) | |
15 | g.38351073A>G | CA391933144 | SPRED1 | c.744A>G (p.Ile248Met) c.780A>G (p.Ile260Met) c.522A>G (p.Ile174Met) c.681A>G (p.Ile227Met) | |
15 | g.38351073A>T | CA489922922 | SPRED1 | c.744A>T (p.Ile248=) c.780A>T (p.Ile260=) c.522A>T (p.Ile174=) c.681A>T (p.Ile227=) | |
15 | g.38351074A>C | CA391933147 | SPRED1 | c.745A>C (p.Asn249His) c.781A>C (p.Asn261His) c.523A>C (p.Asn175His) c.682A>C (p.Asn228His) | |
15 | g.38351074A>G | CA391933146 | SPRED1 | c.745A>G (p.Asn249Asp) c.781A>G (p.Asn261Asp) c.523A>G (p.Asn175Asp) c.682A>G (p.Asn228Asp) | |
15 | g.38351074A>T | CA391933145 | SPRED1 | c.745A>T (p.Asn249Tyr) c.781A>T (p.Asn261Tyr) c.523A>T (p.Asn175Tyr) c.682A>T (p.Asn228Tyr) | |
15 | g.38351074_38351076delinsAAC | CA2170812560 | SPRED1 | c.745_747delinsAAC (p.Asn249=) c.781_783delinsAAC (p.Asn261=) c.523_525delinsAAC (p.Asn175=) c.682_684delinsAAC (p.Asn228=) | |
15 | g.38351075A>C | CA391933148 | SPRED1 | c.746A>C (p.Asn249Thr) c.782A>C (p.Asn261Thr) c.524A>C (p.Asn175Thr) c.683A>C (p.Asn228Thr) | |
15 | g.38351075A>G | CA391933150 | SPRED1 | c.746A>G (p.Asn249Ser) c.782A>G (p.Asn261Ser) c.524A>G (p.Asn175Ser) c.683A>G (p.Asn228Ser) | |
15 | g.38351075A>T | CA391933149 | SPRED1 | c.746A>T (p.Asn249Ile) c.782A>T (p.Asn261Ile) c.524A>T (p.Asn175Ile) c.683A>T (p.Asn228Ile) | |
15 | g.38351075_38351076del | CA2170812561 | SPRED1 | c.746_747del (p.Asn249ThrfsTer16) c.782_783del (p.Asn261ThrfsTer16) c.524_525del (p.Asn175ThrfsTer16) c.683_684del (p.Asn228ThrfsTer16) | dbSNP |
15 | g.38351076C>A | CA391933151 | SPRED1 | c.747C>A (p.Asn249Lys) c.783C>A (p.Asn261Lys) c.525C>A (p.Asn175Lys) c.684C>A (p.Asn228Lys) | gnomAD v4 |
15 | g.38351076C= | CA2170812562 | SPRED1 | c.747C= (p.Asn249=) c.783C= (p.Asn261=) c.525C= (p.Asn175=) c.684C= (p.Asn228=) | |
15 | g.38351076C>G | CA391933152 | SPRED1 | c.747C>G (p.Asn249Lys) c.783C>G (p.Asn261Lys) c.525C>G (p.Asn175Lys) c.684C>G (p.Asn228Lys) | ClinVar dbSNP |
15 | g.38351076C>T | CA489922923 | SPRED1 | c.747C>T (p.Asn249=) c.783C>T (p.Asn261=) c.525C>T (p.Asn175=) c.684C>T (p.Asn228=) | |
15 | g.38351077C>A | CA391933153 | SPRED1 | c.748C>A (p.Pro250Thr) c.784C>A (p.Pro262Thr) c.526C>A (p.Pro176Thr) c.685C>A (p.Pro229Thr) | |
15 | g.38351077C>G | CA391933154 | SPRED1 | c.748C>G (p.Pro250Ala) c.784C>G (p.Pro262Ala) c.526C>G (p.Pro176Ala) c.685C>G (p.Pro229Ala) | |
15 | g.38351077C>T | CA391933155 | SPRED1 | c.748C>T (p.Pro250Ser) c.784C>T (p.Pro262Ser) c.526C>T (p.Pro176Ser) c.685C>T (p.Pro229Ser) | |
15 | g.38351078C>A | CA391933156 | SPRED1 | c.749C>A (p.Pro250His) c.785C>A (p.Pro262His) c.527C>A (p.Pro176His) c.686C>A (p.Pro229His) | |
15 | g.38351078C>G | CA391933157 | SPRED1 | c.749C>G (p.Pro250Arg) c.785C>G (p.Pro262Arg) c.527C>G (p.Pro176Arg) c.686C>G (p.Pro229Arg) | |
15 | g.38351078C>T | CA391933158 | SPRED1 | c.749C>T (p.Pro250Leu) c.785C>T (p.Pro262Leu) c.527C>T (p.Pro176Leu) c.686C>T (p.Pro229Leu) | |
15 | g.38351079T>A | CA489922924 | SPRED1 | c.750T>A (p.Pro250=) c.786T>A (p.Pro262=) c.528T>A (p.Pro176=) c.687T>A (p.Pro229=) | |
15 | g.38351079T>C | CA489922926 | SPRED1 | c.750T>C (p.Pro250=) c.786T>C (p.Pro262=) c.528T>C (p.Pro176=) c.687T>C (p.Pro229=) | |
15 | g.38351079T>G | CA489922925 | SPRED1 | c.750T>G (p.Pro250=) c.786T>G (p.Pro262=) c.528T>G (p.Pro176=) c.687T>G (p.Pro229=) | |
15 | g.38351080C>A | CA489922927 | SPRED1 | c.751C>A (p.Arg251=) c.787C>A (p.Arg263=) c.529C>A (p.Arg177=) c.688C>A (p.Arg230=) | ClinVar dbSNP |
15 | g.38351080C= | CA2170812563 | SPRED1 | c.751C= (p.Arg251=) c.787C= (p.Arg263=) c.529C= (p.Arg177=) c.688C= (p.Arg230=) | |
15 | g.38351080C>G | CA391933159 | SPRED1 | c.751C>G (p.Arg251Gly) c.787C>G (p.Arg263Gly) c.529C>G (p.Arg177Gly) c.688C>G (p.Arg230Gly) | |
15 | g.38351080C>T | CA391933160 | SPRED1 | c.751C>T (p.Arg251Ter) c.787C>T (p.Arg263Ter) c.529C>T (p.Arg177Ter) c.688C>T (p.Arg230Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.38351081G>A | CA391933161 | SPRED1 | c.752G>A (p.Arg251Gln) c.788G>A (p.Arg263Gln) c.530G>A (p.Arg177Gln) c.689G>A (p.Arg230Gln) | dbSNP |
15 | g.38351081G>C | CA391933162 | SPRED1 | c.752G>C (p.Arg251Pro) c.788G>C (p.Arg263Pro) c.530G>C (p.Arg177Pro) c.689G>C (p.Arg230Pro) | |
15 | g.38351081G= | CA2170812564 | SPRED1 | c.752G= (p.Arg251=) c.788G= (p.Arg263=) c.530G= (p.Arg177=) c.689G= (p.Arg230=) | |
15 | g.38351081G>T | CA391933163 | SPRED1 | c.752G>T (p.Arg251Leu) c.788G>T (p.Arg263Leu) c.530G>T (p.Arg177Leu) c.689G>T (p.Arg230Leu) | |
15 | g.38351082A= | CA2170812565 | SPRED1 | c.753A= (p.Arg251=) c.789A= (p.Arg263=) c.531A= (p.Arg177=) c.690A= (p.Arg230=) | |
15 | g.38351082A>C | CA489922928 | SPRED1 | c.753A>C (p.Arg251=) c.789A>C (p.Arg263=) c.531A>C (p.Arg177=) c.690A>C (p.Arg230=) | |
15 | g.38351082A>G | CA269293442 | SPRED1 | c.753A>G (p.Arg251=) c.789A>G (p.Arg263=) c.531A>G (p.Arg177=) c.690A>G (p.Arg230=) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.38351082A>T | CA489922929 | SPRED1 | c.753A>T (p.Arg251=) c.789A>T (p.Arg263=) c.531A>T (p.Arg177=) c.690A>T (p.Arg230=) | ClinVar |
15 | g.38351083G>A | CA391933166 | SPRED1 | c.754G>A (p.Asp252Asn) c.790G>A (p.Asp264Asn) c.532G>A (p.Asp178Asn) c.691G>A (p.Asp231Asn) | gnomAD v4 |
15 | g.38351083G>C | CA391933165 | SPRED1 | c.754G>C (p.Asp252His) c.790G>C (p.Asp264His) c.532G>C (p.Asp178His) c.691G>C (p.Asp231His) | |
15 | g.38351083G>T | CA391933164 | SPRED1 | c.754G>T (p.Asp252Tyr) c.790G>T (p.Asp264Tyr) c.532G>T (p.Asp178Tyr) c.691G>T (p.Asp231Tyr) | |
15 | g.38351084A= | CA2170812566 | SPRED1 | c.755A= (p.Asp252=) c.791A= (p.Asp264=) c.533A= (p.Asp178=) c.692A= (p.Asp231=) | |
15 | g.38351084A>C | CA391933167 | SPRED1 | c.755A>C (p.Asp252Ala) c.791A>C (p.Asp264Ala) c.533A>C (p.Asp178Ala) c.692A>C (p.Asp231Ala) | |
15 | g.38351084A>G | CA391933168 | SPRED1 | c.755A>G (p.Asp252Gly) c.791A>G (p.Asp264Gly) c.533A>G (p.Asp178Gly) c.692A>G (p.Asp231Gly) | |
15 | g.38351084A>T | CA391933169 | SPRED1 | c.755A>T (p.Asp252Val) c.791A>T (p.Asp264Val) c.533A>T (p.Asp178Val) c.692A>T (p.Asp231Val) | dbSNP gnomAD v4 |
15 | g.38351085T>A | CA391933170 | SPRED1 | c.756T>A (p.Asp252Glu) c.792T>A (p.Asp264Glu) c.534T>A (p.Asp178Glu) c.693T>A (p.Asp231Glu) | |
15 | g.38351085T>C | CA489922930 | SPRED1 | c.756T>C (p.Asp252=) c.792T>C (p.Asp264=) c.534T>C (p.Asp178=) c.693T>C (p.Asp231=) | |
15 | g.38351085T>G | CA391933171 | SPRED1 | c.756T>G (p.Asp252Glu) c.792T>G (p.Asp264Glu) c.534T>G (p.Asp178Glu) c.693T>G (p.Asp231Glu) | |
15 | g.38351086A= | CA2170812567 | SPRED1 | c.757A= (p.Ile253=) c.793A= (p.Ile265=) c.535A= (p.Ile179=) c.694A= (p.Ile232=) | |
15 | g.38351086A>C | CA391933172 | SPRED1 | c.757A>C (p.Ile253Leu) c.793A>C (p.Ile265Leu) c.535A>C (p.Ile179Leu) c.694A>C (p.Ile232Leu) | |
15 | g.38351086A>G | CA391933173 | SPRED1 | c.757A>G (p.Ile253Val) c.793A>G (p.Ile265Val) c.535A>G (p.Ile179Val) c.694A>G (p.Ile232Val) | dbSNP |
15 | g.38351086A>T | CA391933174 | SPRED1 | c.757A>T (p.Ile253Phe) c.793A>T (p.Ile265Phe) c.535A>T (p.Ile179Phe) c.694A>T (p.Ile232Phe) | |
15 | g.38351087T>A | CA391933175 | SPRED1 | c.758T>A (p.Ile253Asn) c.794T>A (p.Ile265Asn) c.536T>A (p.Ile179Asn) c.695T>A (p.Ile232Asn) | |
15 | g.38351087T>C | CA391933176 | SPRED1 | c.758T>C (p.Ile253Thr) c.794T>C (p.Ile265Thr) c.536T>C (p.Ile179Thr) c.695T>C (p.Ile232Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.38351087T>G | CA391933177 | SPRED1 | c.758T>G (p.Ile253Ser) c.794T>G (p.Ile265Ser) c.536T>G (p.Ile179Ser) c.695T>G (p.Ile232Ser) | ClinVar dbSNP |
15 | g.38351087T= | CA2170812568 | SPRED1 | c.758T= (p.Ile253=) c.794T= (p.Ile265=) c.536T= (p.Ile179=) c.695T= (p.Ile232=) |