Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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=) |