Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.38349385_38349393delinsTCTTGTGTC | CA2170811788 | SPRED1 | c.583-37_583-29delinsTCTTGTGTC (n.583-37_583-29delinsTCTTGTGTC) c.619-37_619-29delinsTCTTGTGTC (n.619-37_619-29delinsTCTTGTGTC) c.361-37_361-29delinsTCTTGTGTC (n.361-37_361-29delinsTCTTGTGTC) c.520-37_520-29delinsTCTTGTGTC (n.520-37_520-29delinsTCTTGTGTC) | |
15 | g.38349386C>A | CA655988844 | SPRED1 | c.583-36C>A (n.583-36C>A) c.619-36C>A (n.619-36C>A) c.361-36C>A (n.361-36C>A) c.520-36C>A (n.520-36C>A) | dbSNP gnomAD v4 COSMIC COSMIC |
15 | g.38349386_38349393del | CA2170811789 | SPRED1 | c.583-36_583-29del (n.583-36_583-29del) c.619-36_619-29del (n.619-36_619-29del) c.361-36_361-29del (n.361-36_361-29del) c.520-36_520-29del (n.520-36_520-29del) | dbSNP |
15 | g.38349387T>C | CA617505698 | SPRED1 | c.583-35T>C (n.583-35T>C) c.619-35T>C (n.619-35T>C) c.361-35T>C (n.361-35T>C) c.520-35T>C (n.520-35T>C) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.38349387T= | CA2170811790 | SPRED1 | c.583-35T= (n.583-35T=) c.619-35T= (n.619-35T=) c.361-35T= (n.361-35T=) c.520-35T= (n.520-35T=) | |
15 | g.38349388del | CA2803806043 | SPRED1 | c.583-34del (n.583-34del) c.619-34del (n.619-34del) c.361-34del (n.361-34del) c.520-34del (n.520-34del) | |
15 | g.38349389G>A | CA7470129 | SPRED1 | c.583-33G>A (n.583-33G>A) c.619-33G>A (n.619-33G>A) c.361-33G>A (n.361-33G>A) c.520-33G>A (n.520-33G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.38349389G= | CA2170811791 | SPRED1 | c.583-33G= (n.583-33G=) c.619-33G= (n.619-33G=) c.361-33G= (n.361-33G=) c.520-33G= (n.520-33G=) | |
15 | g.38349389G>T | CA269293275 | SPRED1 | c.583-33G>T (n.583-33G>T) c.619-33G>T (n.619-33G>T) c.361-33G>T (n.361-33G>T) c.520-33G>T (n.520-33G>T) | dbSNP gnomAD v4 |
15 | g.38349390T>C | CA2575673283 | SPRED1 | c.583-32T>C (n.583-32T>C) c.619-32T>C (n.619-32T>C) c.361-32T>C (n.361-32T>C) c.520-32T>C (n.520-32T>C) | |
15 | g.38349390T>G | CA2575673284 | SPRED1 | c.583-32T>G (n.583-32T>G) c.619-32T>G (n.619-32T>G) c.361-32T>G (n.361-32T>G) c.520-32T>G (n.520-32T>G) | |
15 | g.38349391G>T | CA655988845 | SPRED1 | c.583-31G>T (n.583-31G>T) c.619-31G>T (n.619-31G>T) c.361-31G>T (n.361-31G>T) c.520-31G>T (n.520-31G>T) | COSMIC |
15 | g.38349392T>G | CA2170811793 | SPRED1 | c.583-30T>G (n.583-30T>G) c.619-30T>G (n.619-30T>G) c.361-30T>G (n.361-30T>G) c.520-30T>G (n.520-30T>G) | dbSNP |
15 | g.38349392T= | CA2170811792 | SPRED1 | c.583-30T= (n.583-30T=) c.619-30T= (n.619-30T=) c.361-30T= (n.361-30T=) c.520-30T= (n.520-30T=) | |
15 | g.38349393C>A | CA2627716019 | SPRED1 | c.583-29C>A (n.583-29C>A) c.619-29C>A (n.619-29C>A) c.361-29C>A (n.361-29C>A) c.520-29C>A (n.520-29C>A) | gnomAD v4 |
15 | g.38349395T>C | CA2170811795 | SPRED1 | c.583-27T>C (n.583-27T>C) c.619-27T>C (n.619-27T>C) c.361-27T>C (n.361-27T>C) c.520-27T>C (n.520-27T>C) | dbSNP |
15 | g.38349395T= | CA2170811794 | SPRED1 | c.583-27T= (n.583-27T=) c.619-27T= (n.619-27T=) c.361-27T= (n.361-27T=) c.520-27T= (n.520-27T=) | |
15 | g.38349397T>G | CA2803806044 | SPRED1 | c.583-25T>G (n.583-25T>G) c.619-25T>G (n.619-25T>G) c.361-25T>G (n.361-25T>G) c.520-25T>G (n.520-25T>G) | |
15 | g.38349398A= | CA2170811796 | SPRED1 | c.583-24A= (n.583-24A=) c.619-24A= (n.619-24A=) c.361-24A= (n.361-24A=) c.520-24A= (n.520-24A=) | |
15 | g.38349398A>G | CA617505699 | SPRED1 | c.583-24A>G (n.583-24A>G) c.619-24A>G (n.619-24A>G) c.361-24A>G (n.361-24A>G) c.520-24A>G (n.520-24A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.38349398A>T | CA2575673285 | SPRED1 | c.583-24A>T (n.583-24A>T) c.619-24A>T (n.619-24A>T) c.361-24A>T (n.361-24A>T) c.520-24A>T (n.520-24A>T) | |
15 | g.38349399del | CA2627716020 | SPRED1 | c.583-23del (n.583-23del) c.619-23del (n.619-23del) c.361-23del (n.361-23del) c.520-23del (n.520-23del) | gnomAD v4 |
15 | g.38349398_38349413delinsAAGTAGAAATTGTTTG | CA2170811797 | SPRED1 | c.583-24_583-9delinsAAGTAGAAATTGTTTG (n.583-24_583-9delinsAAGTAGAAATTGTTTG) c.619-24_619-9delinsAAGTAGAAATTGTTTG (n.619-24_619-9delinsAAGTAGAAATTGTTTG) c.361-24_361-9delinsAAGTAGAAATTGTTTG (n.361-24_361-9delinsAAGTAGAAATTGTTTG) c.520-24_520-9delinsAAGTAGAAATTGTTTG (n.520-24_520-9delinsAAGTAGAAATTGTTTG) | |
15 | g.38349399A>G | CA2627716021 | SPRED1 | c.583-23A>G (n.583-23A>G) c.619-23A>G (n.619-23A>G) c.361-23A>G (n.361-23A>G) c.520-23A>G (n.520-23A>G) | gnomAD v4 |
15 | g.38349399_38349413del | CA2170811798 | SPRED1 | c.583-23_583-9del (n.583-23_583-9del) c.619-23_619-9del (n.619-23_619-9del) c.361-23_361-9del (n.361-23_361-9del) c.520-23_520-9del (n.520-23_520-9del) | dbSNP |
15 | g.38349400G>A | CA617505700 | SPRED1 | c.583-22G>A (n.583-22G>A) c.619-22G>A (n.619-22G>A) c.361-22G>A (n.361-22G>A) c.520-22G>A (n.520-22G>A) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.38349400G= | CA2170811799 | SPRED1 | c.583-22G= (n.583-22G=) c.619-22G= (n.619-22G=) c.361-22G= (n.361-22G=) c.520-22G= (n.520-22G=) | |
15 | g.38349402A>G | CA2627716022 | SPRED1 | c.583-20A>G (n.583-20A>G) c.619-20A>G (n.619-20A>G) c.361-20A>G (n.361-20A>G) c.520-20A>G (n.520-20A>G) | gnomAD v4 |
15 | g.38349404A>C | CA2573150668 | SPRED1 | c.583-18A>C (n.583-18A>C) c.619-18A>C (n.619-18A>C) c.361-18A>C (n.361-18A>C) c.520-18A>C (n.520-18A>C) | ClinVar dbSNP |
15 | g.38349404A>G | CA2627716023 | SPRED1 | c.583-18A>G (n.583-18A>G) c.619-18A>G (n.619-18A>G) c.361-18A>G (n.361-18A>G) c.520-18A>G (n.520-18A>G) | gnomAD v4 |
15 | g.38349405A>G | CA2627716024 | SPRED1 | c.583-17A>G (n.583-17A>G) c.619-17A>G (n.619-17A>G) c.361-17A>G (n.361-17A>G) c.520-17A>G (n.520-17A>G) | gnomAD v4 |
15 | g.38349406A= | CA2170811800 | SPRED1 | c.583-16A= (n.583-16A=) c.619-16A= (n.619-16A=) c.361-16A= (n.361-16A=) c.520-16A= (n.520-16A=) | |
15 | g.38349406A>G | CA7470130 | SPRED1 | c.583-16A>G (n.583-16A>G) c.619-16A>G (n.619-16A>G) c.361-16A>G (n.361-16A>G) c.520-16A>G (n.520-16A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.38349407T>C | CA7470131 | SPRED1 | c.583-15T>C (n.583-15T>C) c.619-15T>C (n.619-15T>C) c.361-15T>C (n.361-15T>C) c.520-15T>C (n.520-15T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.38349407T= | CA2170811801 | SPRED1 | c.583-15T= (n.583-15T=) c.619-15T= (n.619-15T=) c.361-15T= (n.361-15T=) c.520-15T= (n.520-15T=) | |
15 | g.38349411_38349414del | CA2580613791 | SPRED1 | c.583-11_583-8del (n.583-11_583-8del) c.619-11_619-8del (n.619-11_619-8del) c.361-11_361-8del (n.361-11_361-8del) c.520-11_520-8del (n.520-11_520-8del) | ClinVar gnomAD v4 |
15 | g.38349409G>C | CA968817096 | SPRED1 | c.583-13G>C (n.583-13G>C) c.619-13G>C (n.619-13G>C) c.361-13G>C (n.361-13G>C) c.520-13G>C (n.520-13G>C) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.38349409G= | CA2170811802 | SPRED1 | c.583-13G= (n.583-13G=) c.619-13G= (n.619-13G=) c.361-13G= (n.361-13G=) c.520-13G= (n.520-13G=) | |
15 | g.38349410T>C | CA7470132 | SPRED1 | c.583-12T>C (n.583-12T>C) c.619-12T>C (n.619-12T>C) c.361-12T>C (n.361-12T>C) c.520-12T>C (n.520-12T>C) | dbSNP ExAC gnomAD v2 |
15 | g.38349410T= | CA2170811803 | SPRED1 | c.583-12T= (n.583-12T=) c.619-12T= (n.619-12T=) c.361-12T= (n.361-12T=) c.520-12T= (n.520-12T=) | |
15 | g.38349412T>C | CA2627716025 | SPRED1 | c.583-10T>C (n.583-10T>C) c.619-10T>C (n.619-10T>C) c.361-10T>C (n.361-10T>C) c.520-10T>C (n.520-10T>C) | gnomAD v4 |
15 | g.38349413G>A | CA2575673286 | SPRED1 | c.583-9G>A (n.583-9G>A) c.619-9G>A (n.619-9G>A) c.361-9G>A (n.361-9G>A) c.520-9G>A (n.520-9G>A) | |
15 | g.38349413G= | CA2170811804 | SPRED1 | c.583-9G= (n.583-9G=) c.619-9G= (n.619-9G=) c.361-9G= (n.361-9G=) c.520-9G= (n.520-9G=) | |
15 | g.38349413G>T | CA617505701 | SPRED1 | c.583-9G>T (n.583-9G>T) c.619-9G>T (n.619-9G>T) c.361-9G>T (n.361-9G>T) c.520-9G>T (n.520-9G>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.38349413_38349414insCCC | CA2170811805 | SPRED1 | c.583-9_583-8insCCC (n.583-9_583-8insCCC) c.619-9_619-8insCCC (n.619-9_619-8insCCC) c.361-9_361-8insCCC (n.361-9_361-8insCCC) c.520-9_520-8insCCC (n.520-9_520-8insCCC) | dbSNP |
15 | g.38349414T>C | CA7470133 | SPRED1 | c.583-8T>C (n.583-8T>C) c.619-8T>C (n.619-8T>C) c.361-8T>C (n.361-8T>C) c.520-8T>C (n.520-8T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.38349414T= | CA2170811806 | SPRED1 | c.583-8T= (n.583-8T=) c.619-8T= (n.619-8T=) c.361-8T= (n.361-8T=) c.520-8T= (n.520-8T=) | |
15 | g.38349415A= | CA2170811807 | SPRED1 | c.583-7A= (n.583-7A=) c.619-7A= (n.619-7A=) c.361-7A= (n.361-7A=) c.520-7A= (n.520-7A=) | |
15 | g.38349415A>G | CA142280 | SPRED1 | c.583-7A>G (n.583-7A>G) c.619-7A>G (n.619-7A>G) c.361-7A>G (n.361-7A>G) c.520-7A>G (n.520-7A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.38349420A>C | CA391932762 | SPRED1 | c.583-2A>C (n.583-2A>C) c.619-2A>C (n.619-2A>C) c.361-2A>C (n.361-2A>C) c.520-2A>C (n.520-2A>C) | |
15 | g.38349420A>G | CA391932760 | SPRED1 | c.583-2A>G (n.583-2A>G) c.619-2A>G (n.619-2A>G) c.361-2A>G (n.361-2A>G) c.520-2A>G (n.520-2A>G) | |
15 | g.38349420A>T | CA391932761 | SPRED1 | c.583-2A>T (n.583-2A>T) c.619-2A>T (n.619-2A>T) c.361-2A>T (n.361-2A>T) c.520-2A>T (n.520-2A>T) | |
15 | g.38349421G>A | CA391932763 | SPRED1 | c.583-1G>A (n.583-1G>A) c.619-1G>A (n.619-1G>A) c.361-1G>A (n.361-1G>A) c.520-1G>A (n.520-1G>A) | |
15 | g.38349421G>C | CA391932764 | SPRED1 | c.583-1G>C (n.583-1G>C) c.619-1G>C (n.619-1G>C) c.361-1G>C (n.361-1G>C) c.520-1G>C (n.520-1G>C) | |
15 | g.38349421G>T | CA391932765 | SPRED1 | c.583-1G>T (n.583-1G>T) c.619-1G>T (n.619-1G>T) c.361-1G>T (n.361-1G>T) c.520-1G>T (n.520-1G>T) | |
15 | g.38349422A= | CA2170811808 | SPRED1 | c.583A= (p.Ile195=) c.619A= (p.Ile207=) c.361A= (p.Ile121=) c.520A= (p.Ile174=) | |
15 | g.38349422A>C | CA391932766 | SPRED1 | c.583A>C (p.Ile195Leu) c.619A>C (p.Ile207Leu) c.361A>C (p.Ile121Leu) c.520A>C (p.Ile174Leu) | |
15 | g.38349422A>G | CA391932767 | SPRED1 | c.583A>G (p.Ile195Val) c.619A>G (p.Ile207Val) c.361A>G (p.Ile121Val) c.520A>G (p.Ile174Val) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.38349422A>T | CA391932768 | SPRED1 | c.583A>T (p.Ile195Leu) c.619A>T (p.Ile207Leu) c.361A>T (p.Ile121Leu) c.520A>T (p.Ile174Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.38349423T>A | CA391932769 | SPRED1 | c.584T>A (p.Ile195Lys) c.620T>A (p.Ile207Lys) c.362T>A (p.Ile121Lys) c.521T>A (p.Ile174Lys) | ClinVar dbSNP gnomAD v4 |
15 | g.38349423T>C | CA391932770 | SPRED1 | c.584T>C (p.Ile195Thr) c.620T>C (p.Ile207Thr) c.362T>C (p.Ile121Thr) c.521T>C (p.Ile174Thr) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.38349423T>G | CA391932771 | SPRED1 | c.584T>G (p.Ile195Arg) c.620T>G (p.Ile207Arg) c.362T>G (p.Ile121Arg) c.521T>G (p.Ile174Arg) | |
15 | g.38349423T= | CA2170811809 | SPRED1 | c.584T= (p.Ile195=) c.620T= (p.Ile207=) c.362T= (p.Ile121=) c.521T= (p.Ile174=) | |
15 | g.38349424A>C | CA489922822 | SPRED1 | c.585A>C (p.Ile195=) c.621A>C (p.Ile207=) c.363A>C (p.Ile121=) c.522A>C (p.Ile174=) | |
15 | g.38349424A>G | CA391932772 | SPRED1 | c.585A>G (p.Ile195Met) c.621A>G (p.Ile207Met) c.363A>G (p.Ile121Met) c.522A>G (p.Ile174Met) | |
15 | g.38349424A>T | CA489922823 | SPRED1 | c.585A>T (p.Ile195=) c.621A>T (p.Ile207=) c.363A>T (p.Ile121=) c.522A>T (p.Ile174=) | |
15 | g.38349425A>C | CA391932773 | SPRED1 | c.586A>C (p.Thr196Pro) c.622A>C (p.Thr208Pro) c.364A>C (p.Thr122Pro) c.523A>C (p.Thr175Pro) | |
15 | g.38349425A>G | CA391932774 | SPRED1 | c.586A>G (p.Thr196Ala) c.622A>G (p.Thr208Ala) c.364A>G (p.Thr122Ala) c.523A>G (p.Thr175Ala) | |
15 | g.38349425A>T | CA391932775 | SPRED1 | c.586A>T (p.Thr196Ser) c.622A>T (p.Thr208Ser) c.364A>T (p.Thr122Ser) c.523A>T (p.Thr175Ser) | |
15 | g.38349426C>A | CA391932776 | SPRED1 | c.587C>A (p.Thr196Lys) c.623C>A (p.Thr208Lys) c.365C>A (p.Thr122Lys) c.524C>A (p.Thr175Lys) | gnomAD v4 |
15 | g.38349426C= | CA2170811810 | SPRED1 | c.587C= (p.Thr196=) c.623C= (p.Thr208=) c.365C= (p.Thr122=) c.524C= (p.Thr175=) | |
15 | g.38349426C>G | CA391932777 | SPRED1 | c.587C>G (p.Thr196Arg) c.623C>G (p.Thr208Arg) c.365C>G (p.Thr122Arg) c.524C>G (p.Thr175Arg) | |
15 | g.38349426C>T | CA501231 | SPRED1 | c.587C>T (p.Thr196Ile) c.623C>T (p.Thr208Ile) c.365C>T (p.Thr122Ile) c.524C>T (p.Thr175Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.38349427A>C | CA489922826 | SPRED1 | c.588A>C (p.Thr196=) c.624A>C (p.Thr208=) c.366A>C (p.Thr122=) c.525A>C (p.Thr175=) | |
15 | g.38349427A>G | CA489922825 | SPRED1 | c.588A>G (p.Thr196=) c.624A>G (p.Thr208=) c.366A>G (p.Thr122=) c.525A>G (p.Thr175=) | |
15 | g.38349427A>T | CA489922824 | SPRED1 | c.588A>T (p.Thr196=) c.624A>T (p.Thr208=) c.366A>T (p.Thr122=) c.525A>T (p.Thr175=) | ClinVar gnomAD v4 |
15 | g.38349428T>A | CA391932779 | SPRED1 | c.589T>A (p.Phe197Ile) c.625T>A (p.Phe209Ile) c.367T>A (p.Phe123Ile) c.526T>A (p.Phe176Ile) | |
15 | g.38349428T>C | CA391932778 | SPRED1 | c.589T>C (p.Phe197Leu) c.625T>C (p.Phe209Leu) c.367T>C (p.Phe123Leu) c.526T>C (p.Phe176Leu) | gnomAD v4 |
15 | g.38349428T>G | CA391932780 | SPRED1 | c.589T>G (p.Phe197Val) c.625T>G (p.Phe209Val) c.367T>G (p.Phe123Val) c.526T>G (p.Phe176Val) | |
15 | g.38349429T>A | CA391932781 | SPRED1 | c.590T>A (p.Phe197Tyr) c.626T>A (p.Phe209Tyr) c.368T>A (p.Phe123Tyr) c.527T>A (p.Phe176Tyr) | |
15 | g.38349429T>C | CA391932782 | SPRED1 | c.590T>C (p.Phe197Ser) c.626T>C (p.Phe209Ser) c.368T>C (p.Phe123Ser) c.527T>C (p.Phe176Ser) | |
15 | g.38349429T>G | CA391932783 | SPRED1 | c.590T>G (p.Phe197Cys) c.626T>G (p.Phe209Cys) c.368T>G (p.Phe123Cys) c.527T>G (p.Phe176Cys) | |
15 | g.38349430T>A | CA391932784 | SPRED1 | c.591T>A (p.Phe197Leu) c.627T>A (p.Phe209Leu) c.369T>A (p.Phe123Leu) c.528T>A (p.Phe176Leu) | |
15 | g.38349430T>C | CA489922827 | SPRED1 | c.591T>C (p.Phe197=) c.627T>C (p.Phe209=) c.369T>C (p.Phe123=) c.528T>C (p.Phe176=) | COSMIC |
15 | g.38349430T>G | CA391932785 | SPRED1 | c.591T>G (p.Phe197Leu) c.627T>G (p.Phe209Leu) c.369T>G (p.Phe123Leu) c.528T>G (p.Phe176Leu) | |
15 | g.38349431G>A | CA391932786 | SPRED1 | c.592G>A (p.Gly198Ser) c.628G>A (p.Gly210Ser) c.370G>A (p.Gly124Ser) c.529G>A (p.Gly177Ser) | |
15 | g.38349431G>C | CA391932787 | SPRED1 | c.592G>C (p.Gly198Arg) c.628G>C (p.Gly210Arg) c.370G>C (p.Gly124Arg) c.529G>C (p.Gly177Arg) | |
15 | g.38349431G= | CA2170811811 | SPRED1 | c.592G= (p.Gly198=) c.628G= (p.Gly210=) c.370G= (p.Gly124=) c.529G= (p.Gly177=) | |
15 | g.38349431G>T | CA391932788 | SPRED1 | c.592G>T (p.Gly198Cys) c.628G>T (p.Gly210Cys) c.370G>T (p.Gly124Cys) c.529G>T (p.Gly177Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.38349432G>A | CA391932789 | SPRED1 | c.593G>A (p.Gly198Asp) c.629G>A (p.Gly210Asp) c.371G>A (p.Gly124Asp) c.530G>A (p.Gly177Asp) | |
15 | g.38349432G>C | CA391932790 | SPRED1 | c.593G>C (p.Gly198Ala) c.629G>C (p.Gly210Ala) c.371G>C (p.Gly124Ala) c.530G>C (p.Gly177Ala) | ClinVar dbSNP gnomAD v4 |
15 | g.38349432G= | CA2170811812 | SPRED1 | c.593G= (p.Gly198=) c.629G= (p.Gly210=) c.371G= (p.Gly124=) c.530G= (p.Gly177=) | |
15 | g.38349432G>T | CA391932791 | SPRED1 | c.593G>T (p.Gly198Val) c.629G>T (p.Gly210Val) c.371G>T (p.Gly124Val) c.530G>T (p.Gly177Val) | |
15 | g.38349433T>A | CA489922828 | SPRED1 | c.594T>A (p.Gly198=) c.630T>A (p.Gly210=) c.372T>A (p.Gly124=) c.531T>A (p.Gly177=) | |
15 | g.38349433T>C | CA7470134 | SPRED1 | c.594T>C (p.Gly198=) c.630T>C (p.Gly210=) c.372T>C (p.Gly124=) c.531T>C (p.Gly177=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.38349433T>G | CA489922829 | SPRED1 | c.594T>G (p.Gly198=) c.630T>G (p.Gly210=) c.372T>G (p.Gly124=) c.531T>G (p.Gly177=) | gnomAD v4 |
15 | g.38349433T= | CA2170811813 | SPRED1 | c.594T= (p.Gly198=) c.630T= (p.Gly210=) c.372T= (p.Gly124=) c.531T= (p.Gly177=) | |
15 | g.38349434C>A | CA391932794 | SPRED1 | c.595C>A (p.Gln199Lys) c.631C>A (p.Gln211Lys) c.373C>A (p.Gln125Lys) c.532C>A (p.Gln178Lys) | gnomAD v4 |
15 | g.38349434C>G | CA391932792 | SPRED1 | c.595C>G (p.Gln199Glu) c.631C>G (p.Gln211Glu) c.373C>G (p.Gln125Glu) c.532C>G (p.Gln178Glu) | |
15 | g.38349434C>T | CA391932793 | SPRED1 | c.595C>T (p.Gln199Ter) c.631C>T (p.Gln211Ter) c.373C>T (p.Gln125Ter) c.532C>T (p.Gln178Ter) | |
15 | g.38349435A>C | CA391932795 | SPRED1 | c.596A>C (p.Gln199Pro) c.632A>C (p.Gln211Pro) c.374A>C (p.Gln125Pro) c.533A>C (p.Gln178Pro) | |
15 | g.38349435A>G | CA391932796 | SPRED1 | c.596A>G (p.Gln199Arg) c.632A>G (p.Gln211Arg) c.374A>G (p.Gln125Arg) c.533A>G (p.Gln178Arg) | |
15 | g.38349435A>T | CA391932797 | SPRED1 | c.596A>T (p.Gln199Leu) c.632A>T (p.Gln211Leu) c.374A>T (p.Gln125Leu) c.533A>T (p.Gln178Leu) | |
15 | g.38349436G>A | CA489922830 | SPRED1 | c.597G>A (p.Gln199=) c.633G>A (p.Gln211=) c.375G>A (p.Gln125=) c.534G>A (p.Gln178=) | dbSNP |
15 | g.38349436G>C | CA391932798 | SPRED1 | c.597G>C (p.Gln199His) c.633G>C (p.Gln211His) c.375G>C (p.Gln125His) c.534G>C (p.Gln178His) | |
15 | g.38349436G= | CA2170811814 | SPRED1 | c.597G= (p.Gln199=) c.633G= (p.Gln211=) c.375G= (p.Gln125=) c.534G= (p.Gln178=) | |
15 | g.38349436G>T | CA391932799 | SPRED1 | c.597G>T (p.Gln199His) c.633G>T (p.Gln211His) c.375G>T (p.Gln125His) c.534G>T (p.Gln178His) | gnomAD v4 |
15 | g.38349437C>A | CA391932800 | SPRED1 | c.598C>A (p.Pro200Thr) c.634C>A (p.Pro212Thr) c.376C>A (p.Pro126Thr) c.535C>A (p.Pro179Thr) | |
15 | g.38349437C>G | CA391932801 | SPRED1 | c.598C>G (p.Pro200Ala) c.634C>G (p.Pro212Ala) c.376C>G (p.Pro126Ala) c.535C>G (p.Pro179Ala) | |
15 | g.38349437C>T | CA391932802 | SPRED1 | c.598C>T (p.Pro200Ser) c.634C>T (p.Pro212Ser) c.376C>T (p.Pro126Ser) c.535C>T (p.Pro179Ser) | |
15 | g.38349438C>A | CA391932803 | SPRED1 | c.599C>A (p.Pro200Gln) c.635C>A (p.Pro212Gln) c.377C>A (p.Pro126Gln) c.536C>A (p.Pro179Gln) | |
15 | g.38349438C= | CA2170811815 | SPRED1 | c.599C= (p.Pro200=) c.635C= (p.Pro212=) c.377C= (p.Pro126=) c.536C= (p.Pro179=) | |
15 | g.38349438C>G | CA391932804 | SPRED1 | c.599C>G (p.Pro200Arg) c.635C>G (p.Pro212Arg) c.377C>G (p.Pro126Arg) c.536C>G (p.Pro179Arg) | |
15 | g.38349438C>T | CA7470135 | SPRED1 | c.599C>T (p.Pro200Leu) c.635C>T (p.Pro212Leu) c.377C>T (p.Pro126Leu) c.536C>T (p.Pro179Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.38349439A>C | CA489922833 | SPRED1 | c.600A>C (p.Pro200=) c.636A>C (p.Pro212=) c.378A>C (p.Pro126=) c.537A>C (p.Pro179=) | |
15 | g.38349439A>G | CA489922831 | SPRED1 | c.600A>G (p.Pro200=) c.636A>G (p.Pro212=) c.378A>G (p.Pro126=) c.537A>G (p.Pro179=) | gnomAD v4 |
15 | g.38349439A>T | CA489922832 | SPRED1 | c.600A>T (p.Pro200=) c.636A>T (p.Pro212=) c.378A>T (p.Pro126=) c.537A>T (p.Pro179=) | |
15 | g.38349440G>A | CA391932807 | SPRED1 | c.601G>A (p.Gly201Ser) c.637G>A (p.Gly213Ser) c.379G>A (p.Gly127Ser) c.538G>A (p.Gly180Ser) | |
15 | g.38349440G>C | CA391932806 | SPRED1 | c.601G>C (p.Gly201Arg) c.637G>C (p.Gly213Arg) c.379G>C (p.Gly127Arg) c.538G>C (p.Gly180Arg) | |
15 | g.38349440G>T | CA391932805 | SPRED1 | c.601G>T (p.Gly201Cys) c.637G>T (p.Gly213Cys) c.379G>T (p.Gly127Cys) c.538G>T (p.Gly180Cys) | |
15 | g.38349441G>A | CA391932808 | SPRED1 | c.602G>A (p.Gly201Asp) c.638G>A (p.Gly213Asp) c.380G>A (p.Gly127Asp) c.539G>A (p.Gly180Asp) | |
15 | g.38349441G>C | CA391932809 | SPRED1 | c.602G>C (p.Gly201Ala) c.638G>C (p.Gly213Ala) c.380G>C (p.Gly127Ala) c.539G>C (p.Gly180Ala) | gnomAD v4 |
15 | g.38349441G= | CA2170811816 | SPRED1 | c.602G= (p.Gly201=) c.638G= (p.Gly213=) c.380G= (p.Gly127=) c.539G= (p.Gly180=) | |
15 | g.38349441G>T | CA391932810 | SPRED1 | c.602G>T (p.Gly201Val) c.638G>T (p.Gly213Val) c.380G>T (p.Gly127Val) c.539G>T (p.Gly180Val) | ClinVar dbSNP |
15 | g.38349442C>A | CA489922834 | SPRED1 | c.603C>A (p.Gly201=) c.639C>A (p.Gly213=) c.381C>A (p.Gly127=) c.540C>A (p.Gly180=) | |
15 | g.38349442C= | CA2170811817 | SPRED1 | c.603C= (p.Gly201=) c.639C= (p.Gly213=) c.381C= (p.Gly127=) c.540C= (p.Gly180=) | |
15 | g.38349442C>G | CA489922835 | SPRED1 | c.603C>G (p.Gly201=) c.639C>G (p.Gly213=) c.381C>G (p.Gly127=) c.540C>G (p.Gly180=) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.38349442C>T | CA489922836 | SPRED1 | c.603C>T (p.Gly201=) c.639C>T (p.Gly213=) c.381C>T (p.Gly127=) c.540C>T (p.Gly180=) | |
15 | g.38349443T>A | CA391932811 | SPRED1 | c.604T>A (p.Leu202Met) c.640T>A (p.Leu214Met) c.382T>A (p.Leu128Met) c.541T>A (p.Leu181Met) | |
15 | g.38349443T>C | CA489922837 | SPRED1 | c.604T>C (p.Leu202=) c.640T>C (p.Leu214=) c.382T>C (p.Leu128=) c.541T>C (p.Leu181=) | dbSNP |
15 | g.38349443T>G | CA391932812 | SPRED1 | c.604T>G (p.Leu202Val) c.640T>G (p.Leu214Val) c.382T>G (p.Leu128Val) c.541T>G (p.Leu181Val) | dbSNP gnomAD v4 |
15 | g.38349443T= | CA2170811818 | SPRED1 | c.604T= (p.Leu202=) c.640T= (p.Leu214=) c.382T= (p.Leu128=) c.541T= (p.Leu181=) | |
15 | g.38349444T>A | CA391932813 | SPRED1 | c.605T>A (p.Leu202Ter) c.641T>A (p.Leu214Ter) c.383T>A (p.Leu128Ter) c.542T>A (p.Leu181Ter) | |
15 | g.38349444T>C | CA391932814 | SPRED1 | c.605T>C (p.Leu202Ser) c.641T>C (p.Leu214Ser) c.383T>C (p.Leu128Ser) c.542T>C (p.Leu181Ser) | ClinVar dbSNP |
15 | g.38349444T>G | CA391932815 | SPRED1 | c.605T>G (p.Leu202Trp) c.641T>G (p.Leu214Trp) c.383T>G (p.Leu128Trp) c.542T>G (p.Leu181Trp) | |
15 | g.38349444T= | CA2170811819 | SPRED1 | c.605T= (p.Leu202=) c.641T= (p.Leu214=) c.383T= (p.Leu128=) c.542T= (p.Leu181=) | |
15 | g.38349445G>A | CA489922838 | SPRED1 | c.606G>A (p.Leu202=) c.642G>A (p.Leu214=) c.384G>A (p.Leu128=) c.543G>A (p.Leu181=) | dbSNP |
15 | g.38349445G>C | CA391932816 | SPRED1 | c.606G>C (p.Leu202Phe) c.642G>C (p.Leu214Phe) c.384G>C (p.Leu128Phe) c.543G>C (p.Leu181Phe) | |
15 | g.38349445G= | CA2170811820 | SPRED1 | c.606G= (p.Leu202=) c.642G= (p.Leu214=) c.384G= (p.Leu128=) c.543G= (p.Leu181=) | |
15 | g.38349445G>T | CA391932817 | SPRED1 | c.606G>T (p.Leu202Phe) c.642G>T (p.Leu214Phe) c.384G>T (p.Leu128Phe) c.543G>T (p.Leu181Phe) | |
15 | g.38349446G>A | CA7470136 | SPRED1 | c.607G>A (p.Asp203Asn) c.643G>A (p.Asp215Asn) c.385G>A (p.Asp129Asn) c.544G>A (p.Asp182Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.38349446G>C | CA391932818 | SPRED1 | c.607G>C (p.Asp203His) c.643G>C (p.Asp215His) c.385G>C (p.Asp129His) c.544G>C (p.Asp182His) | |
15 | g.38349446G= | CA2170811821 | SPRED1 | c.607G= (p.Asp203=) c.643G= (p.Asp215=) c.385G= (p.Asp129=) c.544G= (p.Asp182=) | |
15 | g.38349446G>T | CA391932819 | SPRED1 | c.607G>T (p.Asp203Tyr) c.643G>T (p.Asp215Tyr) c.385G>T (p.Asp129Tyr) c.544G>T (p.Asp182Tyr) | |
15 | g.38349447A>C | CA391932822 | SPRED1 | c.608A>C (p.Asp203Ala) c.644A>C (p.Asp215Ala) c.386A>C (p.Asp129Ala) c.545A>C (p.Asp182Ala) | |
15 | g.38349447A>G | CA391932820 | SPRED1 | c.608A>G (p.Asp203Gly) c.644A>G (p.Asp215Gly) c.386A>G (p.Asp129Gly) c.545A>G (p.Asp182Gly) | gnomAD v4 |
15 | g.38349447A>T | CA391932821 | SPRED1 | c.608A>T (p.Asp203Val) c.644A>T (p.Asp215Val) c.386A>T (p.Asp129Val) c.545A>T (p.Asp182Val) | |
15 | g.38349448C>A | CA391932823 | SPRED1 | c.609C>A (p.Asp203Glu) c.645C>A (p.Asp215Glu) c.387C>A (p.Asp129Glu) c.546C>A (p.Asp182Glu) | |
15 | g.38349448C>G | CA391932824 | SPRED1 | c.609C>G (p.Asp203Glu) c.645C>G (p.Asp215Glu) c.387C>G (p.Asp129Glu) c.546C>G (p.Asp182Glu) | |
15 | g.38349448C>T | CA489922839 | SPRED1 | c.609C>T (p.Asp203=) c.645C>T (p.Asp215=) c.387C>T (p.Asp129=) c.546C>T (p.Asp182=) | |
15 | g.38349449A= | CA2170811822 | SPRED1 | c.610A= (p.Ile204=) c.646A= (p.Ile216=) c.388A= (p.Ile130=) c.547A= (p.Ile183=) | |
15 | g.38349449A>C | CA391932825 | SPRED1 | c.610A>C (p.Ile204Leu) c.646A>C (p.Ile216Leu) c.388A>C (p.Ile130Leu) c.547A>C (p.Ile183Leu) | |
15 | g.38349449A>G | CA7470137 | SPRED1 | c.610A>G (p.Ile204Val) c.646A>G (p.Ile216Val) c.388A>G (p.Ile130Val) c.547A>G (p.Ile183Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.38349449A>T | CA391932826 | SPRED1 | c.610A>T (p.Ile204Phe) c.646A>T (p.Ile216Phe) c.388A>T (p.Ile130Phe) c.547A>T (p.Ile183Phe) | gnomAD v4 |
15 | g.38349450T>A | CA391932827 | SPRED1 | c.611T>A (p.Ile204Asn) c.647T>A (p.Ile216Asn) c.389T>A (p.Ile130Asn) c.548T>A (p.Ile183Asn) | |
15 | g.38349450T>C | CA391932828 | SPRED1 | c.611T>C (p.Ile204Thr) c.647T>C (p.Ile216Thr) c.389T>C (p.Ile130Thr) c.548T>C (p.Ile183Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.38349450T>G | CA391932829 | SPRED1 | c.611T>G (p.Ile204Ser) c.647T>G (p.Ile216Ser) c.389T>G (p.Ile130Ser) c.548T>G (p.Ile183Ser) | |
15 | g.38349450T= | CA2170811823 | SPRED1 | c.611T= (p.Ile204=) c.647T= (p.Ile216=) c.389T= (p.Ile130=) c.548T= (p.Ile183=) | |
15 | g.38349451T>A | CA489922840 | SPRED1 | c.612T>A (p.Ile204=) c.648T>A (p.Ile216=) c.390T>A (p.Ile130=) c.549T>A (p.Ile183=) | |
15 | g.38349451T>C | CA489922841 | SPRED1 | c.612T>C (p.Ile204=) c.648T>C (p.Ile216=) c.390T>C (p.Ile130=) c.549T>C (p.Ile183=) | |
15 | g.38349451T>G | CA391932830 | SPRED1 | c.612T>G (p.Ile204Met) c.648T>G (p.Ile216Met) c.390T>G (p.Ile130Met) c.549T>G (p.Ile183Met) | |
15 | g.38349452C>A | CA391932831 | SPRED1 | c.613C>A (p.Gln205Lys) c.649C>A (p.Gln217Lys) c.391C>A (p.Gln131Lys) c.550C>A (p.Gln184Lys) | |
15 | g.38349452C>G | CA391932832 | SPRED1 | c.613C>G (p.Gln205Glu) c.649C>G (p.Gln217Glu) c.391C>G (p.Gln131Glu) c.550C>G (p.Gln184Glu) | dbSNP gnomAD v3 |
15 | g.38349452C>T | CA391932833 | SPRED1 | c.613C>T (p.Gln205Ter) c.649C>T (p.Gln217Ter) c.391C>T (p.Gln131Ter) c.550C>T (p.Gln184Ter) | ClinVar dbSNP COSMIC |
15 | g.38349453A= | CA2170811824 | SPRED1 | c.614A= (p.Gln205=) c.650A= (p.Gln217=) c.392A= (p.Gln131=) c.551A= (p.Gln184=) | |
15 | g.38349453A>C | CA391932835 | SPRED1 | c.614A>C (p.Gln205Pro) c.650A>C (p.Gln217Pro) c.392A>C (p.Gln131Pro) c.551A>C (p.Gln184Pro) | |
15 | g.38349453A>G | CA7470138 | SPRED1 | c.614A>G (p.Gln205Arg) c.650A>G (p.Gln217Arg) c.392A>G (p.Gln131Arg) c.551A>G (p.Gln184Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.38349453A>T | CA391932834 | SPRED1 | c.614A>T (p.Gln205Leu) c.650A>T (p.Gln217Leu) c.392A>T (p.Gln131Leu) c.551A>T (p.Gln184Leu) | |
15 | g.38349455_38349456dup | CA2832529006 | SPRED1 | c.616_617dup (p.Ser206ArgfsTer19) c.652_653dup (p.Ser218ArgfsTer19) c.394_395dup (p.Ser132ArgfsTer19) c.553_554dup (p.Ser185ArgfsTer19) | |
15 | g.38349454G>A | CA489922842 | SPRED1 | c.615G>A (p.Gln205=) c.651G>A (p.Gln217=) c.393G>A (p.Gln131=) c.552G>A (p.Gln184=) | |
15 | g.38349454G>C | CA391932836 | SPRED1 | c.615G>C (p.Gln205His) c.651G>C (p.Gln217His) c.393G>C (p.Gln131His) c.552G>C (p.Gln184His) | |
15 | g.38349454G>T | CA391932837 | SPRED1 | c.615G>T (p.Gln205His) c.651G>T (p.Gln217His) c.393G>T (p.Gln131His) c.552G>T (p.Gln184His) | |
15 | g.38349455A>C | CA391932838 | SPRED1 | c.616A>C (p.Ser206Arg) c.652A>C (p.Ser218Arg) c.394A>C (p.Ser132Arg) c.553A>C (p.Ser185Arg) | |
15 | g.38349455A>G | CA391932839 | SPRED1 | c.616A>G (p.Ser206Gly) c.652A>G (p.Ser218Gly) c.394A>G (p.Ser132Gly) c.553A>G (p.Ser185Gly) | |
15 | g.38349455A>T | CA391932840 | SPRED1 | c.616A>T (p.Ser206Cys) c.652A>T (p.Ser218Cys) c.394A>T (p.Ser132Cys) c.553A>T (p.Ser185Cys) | |
15 | g.38349456G>A | CA391932841 | SPRED1 | c.617G>A (p.Ser206Asn) c.653G>A (p.Ser218Asn) c.395G>A (p.Ser132Asn) c.554G>A (p.Ser185Asn) | gnomAD v4 |
15 | g.38349456G>C | CA391932842 | SPRED1 | c.617G>C (p.Ser206Thr) c.653G>C (p.Ser218Thr) c.395G>C (p.Ser132Thr) c.554G>C (p.Ser185Thr) | |
15 | g.38349456G>T | CA391932843 | SPRED1 | c.617G>T (p.Ser206Ile) c.653G>T (p.Ser218Ile) c.395G>T (p.Ser132Ile) c.554G>T (p.Ser185Ile) | |
15 | g.38349457C>A | CA391932844 | SPRED1 | c.618C>A (p.Ser206Arg) c.654C>A (p.Ser218Arg) c.396C>A (p.Ser132Arg) c.555C>A (p.Ser185Arg) | |
15 | g.38349457C= | CA2170811825 | SPRED1 | c.618C= (p.Ser206=) c.654C= (p.Ser218=) c.396C= (p.Ser132=) c.555C= (p.Ser185=) | |
15 | g.38349457C>G | CA7470139 | SPRED1 | c.618C>G (p.Ser206Arg) c.654C>G (p.Ser218Arg) c.396C>G (p.Ser132Arg) c.555C>G (p.Ser185Arg) | dbSNP ExAC gnomAD v2 |
15 | g.38349457C>T | CA489922843 | SPRED1 | c.618C>T (p.Ser206=) c.654C>T (p.Ser218=) c.396C>T (p.Ser132=) c.555C>T (p.Ser185=) | COSMIC |
15 | g.38349458A= | CA2170811826 | SPRED1 | c.619A= (p.Arg207=) c.655A= (p.Arg219=) c.397A= (p.Arg133=) c.556A= (p.Arg186=) | |
15 | g.38349458A>C | CA7470140 | SPRED1 | c.619A>C (p.Arg207=) c.655A>C (p.Arg219=) c.397A>C (p.Arg133=) c.556A>C (p.Arg186=) | ClinVar dbSNP ExAC gnomAD v2 |
15 | g.38349458A>G | CA391932845 | SPRED1 | c.619A>G (p.Arg207Gly) c.655A>G (p.Arg219Gly) c.397A>G (p.Arg133Gly) c.556A>G (p.Arg186Gly) | |
15 | g.38349458A>T | CA391932846 | SPRED1 | c.619A>T (p.Arg207Ter) c.655A>T (p.Arg219Ter) c.397A>T (p.Arg133Ter) c.556A>T (p.Arg186Ter) | ClinVar dbSNP |
15 | g.38349459G>A | CA391932849 | SPRED1 | c.620G>A (p.Arg207Lys) c.656G>A (p.Arg219Lys) c.398G>A (p.Arg133Lys) c.557G>A (p.Arg186Lys) | |
15 | g.38349459G>C | CA391932848 | SPRED1 | c.620G>C (p.Arg207Thr) c.656G>C (p.Arg219Thr) c.398G>C (p.Arg133Thr) c.557G>C (p.Arg186Thr) | ClinVar dbSNP gnomAD v4 |
15 | g.38349459G>T | CA391932847 | SPRED1 | c.620G>T (p.Arg207Ile) c.656G>T (p.Arg219Ile) c.398G>T (p.Arg133Ile) c.557G>T (p.Arg186Ile) | |
15 | g.38349460A>C | CA391932850 | SPRED1 | c.621A>C (p.Arg207Ser) c.657A>C (p.Arg219Ser) c.399A>C (p.Arg133Ser) c.558A>C (p.Arg186Ser) | |
15 | g.38349460A>G | CA489922844 | SPRED1 | c.621A>G (p.Arg207=) c.657A>G (p.Arg219=) c.399A>G (p.Arg133=) c.558A>G (p.Arg186=) | |
15 | g.38349460A>T | CA391932851 | SPRED1 | c.621A>T (p.Arg207Ser) c.657A>T (p.Arg219Ser) c.399A>T (p.Arg133Ser) c.558A>T (p.Arg186Ser) | |
15 | g.38349461A>C | CA391932852 | SPRED1 | c.622A>C (p.Ser208Arg) c.658A>C (p.Ser220Arg) c.400A>C (p.Ser134Arg) c.559A>C (p.Ser187Arg) | |
15 | g.38349461A>G | CA391932853 | SPRED1 | c.622A>G (p.Ser208Gly) c.658A>G (p.Ser220Gly) c.400A>G (p.Ser134Gly) c.559A>G (p.Ser187Gly) | |
15 | g.38349461A>T | CA391932854 | SPRED1 | c.622A>T (p.Ser208Cys) c.658A>T (p.Ser220Cys) c.400A>T (p.Ser134Cys) c.559A>T (p.Ser187Cys) | |
15 | g.38349462G>A | CA391932855 | SPRED1 | c.623G>A (p.Ser208Asn) c.659G>A (p.Ser220Asn) c.401G>A (p.Ser134Asn) c.560G>A (p.Ser187Asn) | |
15 | g.38349462G>C | CA391932856 | SPRED1 | c.623G>C (p.Ser208Thr) c.659G>C (p.Ser220Thr) c.401G>C (p.Ser134Thr) c.560G>C (p.Ser187Thr) | |
15 | g.38349462G>T | CA391932857 | SPRED1 | c.623G>T (p.Ser208Ile) c.659G>T (p.Ser220Ile) c.401G>T (p.Ser134Ile) c.560G>T (p.Ser187Ile) | |
15 | g.38349465_38349475del | CA2695197208 | SPRED1 | c.626_636del (p.Met209ThrfsTer16) c.662_672del (p.Met221ThrfsTer16) c.404_414del (p.Met135ThrfsTer16) c.563_573del (p.Met188ThrfsTer16) | ClinVar |
15 | g.38349463T>A | CA391932858 | SPRED1 | c.624T>A (p.Ser208Arg) c.660T>A (p.Ser220Arg) c.402T>A (p.Ser134Arg) c.561T>A (p.Ser187Arg) | |
15 | g.38349463T>C | CA7470141 | SPRED1 | c.624T>C (p.Ser208=) c.660T>C (p.Ser220=) c.402T>C (p.Ser134=) c.561T>C (p.Ser187=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.38349463T>G | CA391932859 | SPRED1 | c.624T>G (p.Ser208Arg) c.660T>G (p.Ser220Arg) c.402T>G (p.Ser134Arg) c.561T>G (p.Ser187Arg) | |
15 | g.38349463T= | CA2170811827 | SPRED1 | c.624T= (p.Ser208=) c.660T= (p.Ser220=) c.402T= (p.Ser134=) c.561T= (p.Ser187=) | |
15 | g.38349464A>C | CA391932860 | SPRED1 | c.625A>C (p.Met209Leu) c.661A>C (p.Met221Leu) c.403A>C (p.Met135Leu) c.562A>C (p.Met188Leu) | |
15 | g.38349464A>G | CA391932861 | SPRED1 | c.625A>G (p.Met209Val) c.661A>G (p.Met221Val) c.403A>G (p.Met135Val) c.562A>G (p.Met188Val) | |
15 | g.38349464A>T | CA391932862 | SPRED1 | c.625A>T (p.Met209Leu) c.661A>T (p.Met221Leu) c.403A>T (p.Met135Leu) c.562A>T (p.Met188Leu) | |
15 | g.38349465T>A | CA391932864 | SPRED1 | c.626T>A (p.Met209Lys) c.662T>A (p.Met221Lys) c.404T>A (p.Met135Lys) c.563T>A (p.Met188Lys) | |
15 | g.38349465T>C | CA391932865 | SPRED1 | c.626T>C (p.Met209Thr) c.662T>C (p.Met221Thr) c.404T>C (p.Met135Thr) c.563T>C (p.Met188Thr) | |
15 | g.38349465T>G | CA391932863 | SPRED1 | c.626T>G (p.Met209Arg) c.662T>G (p.Met221Arg) c.404T>G (p.Met135Arg) c.563T>G (p.Met188Arg) | |
15 | g.38349466G>A | CA391932866 | SPRED1 | c.627G>A (p.Met209Ile) c.663G>A (p.Met221Ile) c.405G>A (p.Met135Ile) c.564G>A (p.Met188Ile) | |
15 | g.38349466G>C | CA391932867 | SPRED1 | c.627G>C (p.Met209Ile) c.663G>C (p.Met221Ile) c.405G>C (p.Met135Ile) c.564G>C (p.Met188Ile) | |
15 | g.38349466G>T | CA391932868 | SPRED1 | c.627G>T (p.Met209Ile) c.663G>T (p.Met221Ile) c.405G>T (p.Met135Ile) c.564G>T (p.Met188Ile) | |
15 | g.38349467G>A | CA391932869 | SPRED1 | c.628G>A (p.Glu210Lys) c.664G>A (p.Glu222Lys) c.406G>A (p.Glu136Lys) c.565G>A (p.Glu189Lys) | |
15 | g.38349467G>C | CA391932870 | SPRED1 | c.628G>C (p.Glu210Gln) c.664G>C (p.Glu222Gln) c.406G>C (p.Glu136Gln) c.565G>C (p.Glu189Gln) | |
15 | g.38349467G>T | CA391932871 | SPRED1 | c.628G>T (p.Glu210Ter) c.664G>T (p.Glu222Ter) c.406G>T (p.Glu136Ter) c.565G>T (p.Glu189Ter) | |
15 | g.38349468A>C | CA391932874 | SPRED1 | c.629A>C (p.Glu210Ala) c.665A>C (p.Glu222Ala) c.407A>C (p.Glu136Ala) c.566A>C (p.Glu189Ala) | |
15 | g.38349468A>G | CA391932872 | SPRED1 | c.629A>G (p.Glu210Gly) c.665A>G (p.Glu222Gly) c.407A>G (p.Glu136Gly) c.566A>G (p.Glu189Gly) | |
15 | g.38349468A>T | CA391932873 | SPRED1 | c.629A>T (p.Glu210Val) c.665A>T (p.Glu222Val) c.407A>T (p.Glu136Val) c.566A>T (p.Glu189Val) | |
15 | g.38349469A>C | CA391932875 | SPRED1 | c.630A>C (p.Glu210Asp) c.666A>C (p.Glu222Asp) c.408A>C (p.Glu136Asp) c.567A>C (p.Glu189Asp) | |
15 | g.38349469A>G | CA489922845 | SPRED1 | c.630A>G (p.Glu210=) c.666A>G (p.Glu222=) c.408A>G (p.Glu136=) c.567A>G (p.Glu189=) | gnomAD v4 |
15 | g.38349469A>T | CA391932876 | SPRED1 | c.630A>T (p.Glu210Asp) c.666A>T (p.Glu222Asp) c.408A>T (p.Glu136Asp) c.567A>T (p.Glu189Asp) | ClinVar dbSNP |
15 | g.38349470T>A | CA391932877 | SPRED1 | c.631T>A (p.Tyr211Asn) c.667T>A (p.Tyr223Asn) c.409T>A (p.Tyr137Asn) c.568T>A (p.Tyr190Asn) | dbSNP |
15 | g.38349470T>C | CA391932878 | SPRED1 | c.631T>C (p.Tyr211His) c.667T>C (p.Tyr223His) c.409T>C (p.Tyr137His) c.568T>C (p.Tyr190His) | ClinVar |
15 | g.38349470T>G | CA391932879 | SPRED1 | c.631T>G (p.Tyr211Asp) c.667T>G (p.Tyr223Asp) c.409T>G (p.Tyr137Asp) c.568T>G (p.Tyr190Asp) | |
15 | g.38349470T= | CA2170811828 | SPRED1 | c.631T= (p.Tyr211=) c.667T= (p.Tyr223=) c.409T= (p.Tyr137=) c.568T= (p.Tyr190=) | |
15 | g.38349471A>C | CA391932880 | SPRED1 | c.632A>C (p.Tyr211Ser) c.668A>C (p.Tyr223Ser) c.410A>C (p.Tyr137Ser) c.569A>C (p.Tyr190Ser) | |
15 | g.38349471A>G | CA391932882 | SPRED1 | c.632A>G (p.Tyr211Cys) c.668A>G (p.Tyr223Cys) c.410A>G (p.Tyr137Cys) c.569A>G (p.Tyr190Cys) | |
15 | g.38349471A>T | CA391932881 | SPRED1 | c.632A>T (p.Tyr211Phe) c.668A>T (p.Tyr223Phe) c.410A>T (p.Tyr137Phe) c.569A>T (p.Tyr190Phe) | |
15 | g.38349472C>A | CA391932883 | SPRED1 | c.633C>A (p.Tyr211Ter) c.669C>A (p.Tyr223Ter) c.411C>A (p.Tyr137Ter) c.570C>A (p.Tyr190Ter) | |
15 | g.38349472C= | CA2170811829 | SPRED1 | c.633C= (p.Tyr211=) c.669C= (p.Tyr223=) c.411C= (p.Tyr137=) c.570C= (p.Tyr190=) | |
15 | g.38349472C>G | CA391932884 | SPRED1 | c.633C>G (p.Tyr211Ter) c.669C>G (p.Tyr223Ter) c.411C>G (p.Tyr137Ter) c.570C>G (p.Tyr190Ter) | |
15 | g.38349472C>T | CA7470142 | SPRED1 | c.633C>T (p.Tyr211=) c.669C>T (p.Tyr223=) c.411C>T (p.Tyr137=) c.570C>T (p.Tyr190=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
15 | g.38349473G>A | CA7470143 | SPRED1 | c.634G>A (p.Val212Ile) c.670G>A (p.Val224Ile) c.412G>A (p.Val138Ile) c.571G>A (p.Val191Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
15 | g.38349473G>C | CA391932885 | SPRED1 | c.634G>C (p.Val212Leu) c.670G>C (p.Val224Leu) c.412G>C (p.Val138Leu) c.571G>C (p.Val191Leu) | |
15 | g.38349473G= | CA2170811830 | SPRED1 | c.634G= (p.Val212=) c.670G= (p.Val224=) c.412G= (p.Val138=) c.571G= (p.Val191=) | |
15 | g.38349473G>T | CA391932886 | SPRED1 | c.634G>T (p.Val212Leu) c.670G>T (p.Val224Leu) c.412G>T (p.Val138Leu) c.571G>T (p.Val191Leu) | |
15 | g.38349474T>A | CA391932887 | SPRED1 | c.635T>A (p.Val212Glu) c.671T>A (p.Val224Glu) c.413T>A (p.Val138Glu) c.572T>A (p.Val191Glu) | |
15 | g.38349474T>C | CA391932888 | SPRED1 | c.635T>C (p.Val212Ala) c.671T>C (p.Val224Ala) c.413T>C (p.Val138Ala) c.572T>C (p.Val191Ala) | |
15 | g.38349474T>G | CA391932889 | SPRED1 | c.635T>G (p.Val212Gly) c.671T>G (p.Val224Gly) c.413T>G (p.Val138Gly) c.572T>G (p.Val191Gly) | |
15 | g.38349475A= | CA2170811831 | SPRED1 | c.636A= (p.Val212=) c.672A= (p.Val224=) c.414A= (p.Val138=) c.573A= (p.Val191=) | |
15 | g.38349475A>C | CA16606923 | SPRED1 | c.636A>C (p.Val212=) c.672A>C (p.Val224=) c.414A>C (p.Val138=) c.573A>C (p.Val191=) | ClinVar dbSNP |
15 | g.38349475A>G | CA489922846 | SPRED1 | c.636A>G (p.Val212=) c.672A>G (p.Val224=) c.414A>G (p.Val138=) c.573A>G (p.Val191=) | |
15 | g.38349475A>T | CA489922847 | SPRED1 | c.636A>T (p.Val212=) c.672A>T (p.Val224=) c.414A>T (p.Val138=) c.573A>T (p.Val191=) | |
15 | g.38349476C>A | CA391932890 | SPRED1 | c.637C>A (p.Gln213Lys) c.673C>A (p.Gln225Lys) c.415C>A (p.Gln139Lys) c.574C>A (p.Gln192Lys) | |
15 | g.38349476C= | CA2170811832 | SPRED1 | c.637C= (p.Gln213=) c.673C= (p.Gln225=) c.415C= (p.Gln139=) c.574C= (p.Gln192=) | |
15 | g.38349476C>G | CA391932891 | SPRED1 | c.637C>G (p.Gln213Glu) c.673C>G (p.Gln225Glu) c.415C>G (p.Gln139Glu) c.574C>G (p.Gln192Glu) | |
15 | g.38349476C>T | CA251957 | SPRED1 | c.637C>T (p.Gln213Ter) c.673C>T (p.Gln225Ter) c.415C>T (p.Gln139Ter) c.574C>T (p.Gln192Ter) | ClinVar dbSNP gnomAD v4 |
15 | g.38349477A>C | CA391932893 | SPRED1 | c.638A>C (p.Gln213Pro) c.674A>C (p.Gln225Pro) c.416A>C (p.Gln139Pro) c.575A>C (p.Gln192Pro) | gnomAD v4 |
15 | g.38349477A>G | CA391932894 | SPRED1 | c.638A>G (p.Gln213Arg) c.674A>G (p.Gln225Arg) c.416A>G (p.Gln139Arg) c.575A>G (p.Gln192Arg) | |
15 | g.38349477A>T | CA391932892 | SPRED1 | c.638A>T (p.Gln213Leu) c.674A>T (p.Gln225Leu) c.416A>T (p.Gln139Leu) c.575A>T (p.Gln192Leu) | |
15 | g.38349478G>A | CA489922848 | SPRED1 | c.639G>A (p.Gln213=) c.675G>A (p.Gln225=) c.417G>A (p.Gln139=) c.576G>A (p.Gln192=) | gnomAD v4 |
15 | g.38349478G>C | CA391932896 | SPRED1 | c.639G>C (p.Gln213His) c.675G>C (p.Gln225His) c.417G>C (p.Gln139His) c.576G>C (p.Gln192His) | |
15 | g.38349478G>T | CA391932895 | SPRED1 | c.639G>T (p.Gln213His) c.675G>T (p.Gln225His) c.417G>T (p.Gln139His) c.576G>T (p.Gln192His) | |
15 | g.38349479C>A | CA269293276 | SPRED1 | c.640C>A (p.Arg214=) c.676C>A (p.Arg226=) c.418C>A (p.Arg140=) c.577C>A (p.Arg193=) | dbSNP |
15 | g.38349479C= | CA2170811833 | SPRED1 | c.640C= (p.Arg214=) c.676C= (p.Arg226=) c.418C= (p.Arg140=) c.577C= (p.Arg193=) | |
15 | g.38349479C>G | CA391932897 | SPRED1 | c.640C>G (p.Arg214Gly) c.676C>G (p.Arg226Gly) c.418C>G (p.Arg140Gly) c.577C>G (p.Arg193Gly) | |
15 | g.38349479C>T | CA7470144 | SPRED1 | c.640C>T (p.Arg214Trp) c.676C>T (p.Arg226Trp) c.418C>T (p.Arg140Trp) c.577C>T (p.Arg193Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.38349480G>A | CA269293277 | SPRED1 | c.641G>A (p.Arg214Gln) c.677G>A (p.Arg226Gln) c.419G>A (p.Arg140Gln) c.578G>A (p.Arg193Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.38349480G>C | CA391932899 | SPRED1 | c.641G>C (p.Arg214Pro) c.677G>C (p.Arg226Pro) c.419G>C (p.Arg140Pro) c.578G>C (p.Arg193Pro) | |
15 | g.38349480G= | CA2170811834 | SPRED1 | c.641G= (p.Arg214=) c.677G= (p.Arg226=) c.419G= (p.Arg140=) c.578G= (p.Arg193=) | |
15 | g.38349480G>T | CA391932898 | SPRED1 | c.641G>T (p.Arg214Leu) c.677G>T (p.Arg226Leu) c.419G>T (p.Arg140Leu) c.578G>T (p.Arg193Leu) | |
15 | g.38349481G>A | CA489922850 | SPRED1 | c.642G>A (p.Arg214=) c.678G>A (p.Arg226=) c.420G>A (p.Arg140=) c.579G>A (p.Arg193=) | ClinVar dbSNP gnomAD v4 |
15 | g.38349481G>C | CA489922851 | SPRED1 | c.642G>C (p.Arg214=) c.678G>C (p.Arg226=) c.420G>C (p.Arg140=) c.579G>C (p.Arg193=) | |
15 | g.38349481G= | CA2170811835 | SPRED1 | c.642G= (p.Arg214=) c.678G= (p.Arg226=) c.420G= (p.Arg140=) c.579G= (p.Arg193=) | |
15 | g.38349481G>T | CA489922852 | SPRED1 | c.642G>T (p.Arg214=) c.678G>T (p.Arg226=) c.420G>T (p.Arg140=) c.579G>T (p.Arg193=) | |
15 | g.38349482C>A | CA391932900 | SPRED1 | c.643C>A (p.Gln215Lys) c.679C>A (p.Gln227Lys) c.421C>A (p.Gln141Lys) c.580C>A (p.Gln194Lys) | |
15 | g.38349482C= | CA2170811836 | SPRED1 | c.643C= (p.Gln215=) c.679C= (p.Gln227=) c.421C= (p.Gln141=) c.580C= (p.Gln194=) | |
15 | g.38349482C>G | CA7470145 | SPRED1 | c.643C>G (p.Gln215Glu) c.679C>G (p.Gln227Glu) c.421C>G (p.Gln141Glu) c.580C>G (p.Gln194Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.38349482C>T | CA251953 | SPRED1 | c.643C>T (p.Gln215Ter) c.679C>T (p.Gln227Ter) c.421C>T (p.Gln141Ter) c.580C>T (p.Gln194Ter) | ClinVar dbSNP |
15 | g.38349483A>C | CA391932901 | SPRED1 | c.644A>C (p.Gln215Pro) c.680A>C (p.Gln227Pro) c.422A>C (p.Gln141Pro) c.581A>C (p.Gln194Pro) | gnomAD v4 |
15 | g.38349483A>G | CA391932902 | SPRED1 | c.644A>G (p.Gln215Arg) c.680A>G (p.Gln227Arg) c.422A>G (p.Gln141Arg) c.581A>G (p.Gln194Arg) | |
15 | g.38349483A>T | CA391932903 | SPRED1 | c.644A>T (p.Gln215Leu) c.680A>T (p.Gln227Leu) c.422A>T (p.Gln141Leu) c.581A>T (p.Gln194Leu) | |
15 | g.38349484A= | CA2170811837 | SPRED1 | c.645A= (p.Gln215=) c.681A= (p.Gln227=) c.423A= (p.Gln141=) c.582A= (p.Gln194=) | |
15 | g.38349484A>C | CA269293278 | SPRED1 | c.645A>C (p.Gln215His) c.681A>C (p.Gln227His) c.423A>C (p.Gln141His) c.582A>C (p.Gln194His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.38349484A>G | CA489922853 | SPRED1 | c.645A>G (p.Gln215=) c.681A>G (p.Gln227=) c.423A>G (p.Gln141=) c.582A>G (p.Gln194=) | |
15 | g.38349484A>T | CA391932904 | SPRED1 | c.645A>T (p.Gln215His) c.681A>T (p.Gln227His) c.423A>T (p.Gln141His) c.582A>T (p.Gln194His) | |
15 | g.38349485A>C | CA391932905 | SPRED1 | c.646A>C (p.Ile216Leu) c.682A>C (p.Ile228Leu) c.424A>C (p.Ile142Leu) c.583A>C (p.Ile195Leu) | |
15 | g.38349485A>G | CA391932906 | SPRED1 | c.646A>G (p.Ile216Val) c.682A>G (p.Ile228Val) c.424A>G (p.Ile142Val) c.583A>G (p.Ile195Val) | |
15 | g.38349485A>T | CA391932907 | SPRED1 | c.646A>T (p.Ile216Leu) c.682A>T (p.Ile228Leu) c.424A>T (p.Ile142Leu) c.583A>T (p.Ile195Leu) | |
15 | g.38349486T>A | CA391932910 | SPRED1 | c.647T>A (p.Ile216Lys) c.683T>A (p.Ile228Lys) c.425T>A (p.Ile142Lys) c.584T>A (p.Ile195Lys) | |
15 | g.38349486T>C | CA391932908 | SPRED1 | c.647T>C (p.Ile216Thr) c.683T>C (p.Ile228Thr) c.425T>C (p.Ile142Thr) c.584T>C (p.Ile195Thr) | gnomAD v4 |
15 | g.38349486T>G | CA391932909 | SPRED1 | c.647T>G (p.Ile216Arg) c.683T>G (p.Ile228Arg) c.425T>G (p.Ile142Arg) c.584T>G (p.Ile195Arg) |