| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.47441791_47441797dup | CA2574817147 | RAPSN | c.789+37_789+43dup (n.789+37_789+43dup) c.630+37_630+43dup (n.630+37_630+43dup) | gnomAD v4 |
| 11 | g.47441791_47441797del | CA937663729 | RAPSN | c.789+37_789+43del (n.789+37_789+43del) c.630+37_630+43del (n.630+37_630+43del) | gnomAD v3 gnomAD v4 |
| 11 | g.47441794_47441806del | CA2791336100 | RAPSN | c.789+24_789+36del (n.789+24_789+36del) c.630+24_630+36del (n.630+24_630+36del) | |
| 11 | g.47441797_47441803dup | CA599374812 | RAPSN | c.789+25_789+31dup (n.789+25_789+31dup) c.630+25_630+31dup (n.630+25_630+31dup) | gnomAD v2 gnomAD v4 |
| 11 | g.47441797_47441798insCCCCCC | CA2613413366 | RAPSN | c.789+30_789+31insGGGGGG (n.789+30_789+31insGGGGGG) c.630+30_630+31insGGGGGG (n.630+30_630+31insGGGGGG) | gnomAD v4 |
| 11 | g.47441797del | CA2574817149 | RAPSN | c.789+30del (n.789+30del) c.630+30del (n.630+30del) | gnomAD v4 |
| 11 | g.47441795C>A | CA2613413379 | RAPSN | c.789+28G>T (n.789+28G>T) c.630+28G>T (n.630+28G>T) | gnomAD v4 |
| 11 | g.47441795C= | CA1969387663 | RAPSN | c.789+28G= (n.789+28G=) c.630+28G= (n.630+28G=) | |
| 11 | g.47441795C>G | CA599374816 | RAPSN | c.789+28G>C (n.789+28G>C) c.630+28G>C (n.630+28G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47441795C>T | CA2613413385 | RAPSN | c.789+28G>A (n.789+28G>A) c.630+28G>A (n.630+28G>A) | gnomAD v4 |
| 11 | g.47441795_47441798del | CA2564174804 | RAPSN | c.789+25_789+28del (n.789+25_789+28del) c.630+25_630+28del (n.630+25_630+28del) | |
| 11 | g.47441796C>A | CA2613413390 | RAPSN | c.789+27G>T (n.789+27G>T) c.630+27G>T (n.630+27G>T) | gnomAD v4 |
| 11 | g.47441796C>T | CA2613413387 | RAPSN | c.789+27G>A (n.789+27G>A) c.630+27G>A (n.630+27G>A) | gnomAD v4 |
| 11 | g.47441797C>A | CA2613413392 | RAPSN | c.789+26G>T (n.789+26G>T) c.630+26G>T (n.630+26G>T) | gnomAD v4 |
| 11 | g.47441797C>T | CA2574817150 | RAPSN | c.789+26G>A (n.789+26G>A) c.630+26G>A (n.630+26G>A) | gnomAD v4 |
| 11 | g.47441797_47441799delinsCAG | CA1969387664 | RAPSN | c.789+24_789+26delinsCTG (n.789+24_789+26delinsCTG) c.630+24_630+26delinsCTG (n.630+24_630+26delinsCTG) | |
| 11 | g.47441798_47441800del | CA2527938009 | RAPSN | c.789+24_789+26del (n.789+24_789+26del) c.630+24_630+26del (n.630+24_630+26del) | |
| 11 | g.47441798A= | CA1969387665 | RAPSN | c.789+25T= (n.789+25T=) c.630+25T= (n.630+25T=) | |
| 11 | g.47441798A>C | CA221716573 | RAPSN | c.789+25T>G (n.789+25T>G) c.630+25T>G (n.630+25T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47441798A>G | CA1969387666 | RAPSN | c.789+25T>C (n.789+25T>C) c.630+25T>C (n.630+25T>C) | dbSNP |
| 11 | g.47441798_47441799del | CA599374817 | RAPSN | c.789+24_789+25del (n.789+24_789+25del) c.630+24_630+25del (n.630+24_630+25del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47441799G>A | CA599374820 | RAPSN | c.789+24C>T (n.789+24C>T) c.630+24C>T (n.630+24C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47441799G>C | CA599374819 | RAPSN | c.789+24C>G (n.789+24C>G) c.630+24C>G (n.630+24C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47441799G= | CA1969387667 | RAPSN | c.789+24C= (n.789+24C=) c.630+24C= (n.630+24C=) | |
| 11 | g.47441799G>T | CA2568268344 | RAPSN | c.789+24C>A (n.789+24C>A) c.630+24C>A (n.630+24C>A) | gnomAD v4 |
| 11 | g.47441800C>A | CA2613413405 | RAPSN | c.789+23G>T (n.789+23G>T) c.630+23G>T (n.630+23G>T) | gnomAD v4 |
| 11 | g.47441800C= | CA1969387668 | RAPSN | c.789+23G= (n.789+23G=) c.630+23G= (n.630+23G=) | |
| 11 | g.47441800C>G | CA677010352 | RAPSN | c.789+23G>C (n.789+23G>C) c.630+23G>C (n.630+23G>C) | dbSNP |
| 11 | g.47441800C>T | CA5976635 | RAPSN | c.789+23G>A (n.789+23G>A) c.630+23G>A (n.630+23G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47441803_47441804insCCCCCCCCCCC | CA599374821 | RAPSN | c.789+23_789+24insGGGGGGGGGGG (n.789+23_789+24insGGGGGGGGGGG) c.630+23_630+24insGGGGGGGGGGG (n.630+23_630+24insGGGGGGGGGGG) | gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47441801C>A | CA2613413409 | RAPSN | c.789+22G>T (n.789+22G>T) c.630+22G>T (n.630+22G>T) | gnomAD v4 |
| 11 | g.47441801C>T | CA2613413410 | RAPSN | c.789+22G>A (n.789+22G>A) c.630+22G>A (n.630+22G>A) | gnomAD v4 |
| 11 | g.47441802C>A | CA2613413413 | RAPSN | c.789+21G>T (n.789+21G>T) c.630+21G>T (n.630+21G>T) | gnomAD v4 |
| 11 | g.47441802C>T | CA2613413418 | RAPSN | c.789+21G>A (n.789+21G>A) c.630+21G>A (n.630+21G>A) | gnomAD v4 |
| 11 | g.47441803C>A | CA2613413421 | RAPSN | c.789+20G>T (n.789+20G>T) c.630+20G>T (n.630+20G>T) | gnomAD v4 |
| 11 | g.47441803C>T | CA2613413423 | RAPSN | c.789+20G>A (n.789+20G>A) c.630+20G>A (n.630+20G>A) | gnomAD v4 |
| 11 | g.47441803_47441808delinsCTGCAT | CA1969387669 | RAPSN | c.789+15_789+20delinsATGCAG (n.789+15_789+20delinsATGCAG) c.630+15_630+20delinsATGCAG (n.630+15_630+20delinsATGCAG) | |
| 11 | g.47441804T>A | CA937663770 | RAPSN | c.789+19A>T (n.789+19A>T) c.630+19A>T (n.630+19A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47441804T>C | CA599374824 | RAPSN | c.789+19A>G (n.789+19A>G) c.630+19A>G (n.630+19A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47441804T= | CA1969387670 | RAPSN | c.789+19A= (n.789+19A=) c.630+19A= (n.630+19A=) | |
| 11 | g.47441804_47441805del | CA599374823 | RAPSN | c.789+18_789+19del (n.789+18_789+19del) c.630+18_630+19del (n.630+18_630+19del) | gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47441804_47441808del | CA599374822 | RAPSN | c.789+15_789+19del (n.789+15_789+19del) c.630+15_630+19del (n.630+15_630+19del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47441805G>A | CA2613413427 | RAPSN | c.789+18C>T (n.789+18C>T) c.630+18C>T (n.630+18C>T) | gnomAD v4 |
| 11 | g.47441805G>C | CA599374825 | RAPSN | c.789+18C>G (n.789+18C>G) c.630+18C>G (n.630+18C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47441805G= | CA1969387671 | RAPSN | c.789+18C= (n.789+18C=) c.630+18C= (n.630+18C=) | |
| 11 | g.47441805G>T | CA2613413428 | RAPSN | c.789+18C>A (n.789+18C>A) c.630+18C>A (n.630+18C>A) | gnomAD v4 |
| 11 | g.47441806C>A | CA2574817151 | RAPSN | c.789+17G>T (n.789+17G>T) c.630+17G>T (n.630+17G>T) | ClinVar gnomAD v4 |
| 11 | g.47441806C= | CA1969387672 | RAPSN | c.789+17G= (n.789+17G=) c.630+17G= (n.630+17G=) | |
| 11 | g.47441806C>T | CA5976636 | RAPSN | c.789+17G>A (n.789+17G>A) c.630+17G>A (n.630+17G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47441806dup | CA2613413433 | RAPSN | c.789+17dup (n.789+17dup) c.630+17dup (n.630+17dup) | gnomAD v4 |
| 11 | g.47441807A= | CA1969387673 | RAPSN | c.789+16T= (n.789+16T=) c.630+16T= (n.630+16T=) | |
| 11 | g.47441807A>C | CA599374828 | RAPSN | c.789+16T>G (n.789+16T>G) c.630+16T>G (n.630+16T>G) | gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47441807A>G | CA599374827 | RAPSN | c.789+16T>C (n.789+16T>C) c.630+16T>C (n.630+16T>C) | gnomAD v2 gnomAD v4 |
| 11 | g.47441807dup | CA2613413440 | RAPSN | c.789+16dup (n.789+16dup) c.630+16dup (n.630+16dup) | dbSNP gnomAD v4 |
| 11 | g.47441808T>A | CA937663780 | RAPSN | c.789+15A>T (n.789+15A>T) c.630+15A>T (n.630+15A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47441808T>C | CA599374830 | RAPSN | c.789+15A>G (n.789+15A>G) c.630+15A>G (n.630+15A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47441808T= | CA1969387674 | RAPSN | c.789+15A= (n.789+15A=) c.630+15A= (n.630+15A=) | |
| 11 | g.47441811_47441826dup | CA5976637 | RAPSN | c.789_789+15dup c.630_630+15dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47441809C>A | CA599374832 | RAPSN | c.789+14G>T (n.789+14G>T) c.630+14G>T (n.630+14G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47441809C= | CA1969387675 | RAPSN | c.789+14G= (n.789+14G=) c.630+14G= (n.630+14G=) | |
| 11 | g.47441809C>G | CA599374833 | RAPSN | c.789+14G>C (n.789+14G>C) c.630+14G>C (n.630+14G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47441809C>T | CA677010360 | RAPSN | c.789+14G>A (n.789+14G>A) c.630+14G>A (n.630+14G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47441810C>A | CA2613413451 | RAPSN | c.789+13G>T (n.789+13G>T) c.630+13G>T (n.630+13G>T) | gnomAD v4 |
| 11 | g.47441811C>A | CA2613413461 | RAPSN | c.789+12G>T (n.789+12G>T) c.630+12G>T (n.630+12G>T) | gnomAD v4 |
| 11 | g.47441811C= | CA1969387676 | RAPSN | c.789+12G= (n.789+12G=) c.630+12G= (n.630+12G=) | |
| 11 | g.47441811C>T | CA5976638 | RAPSN | c.789+12G>A (n.789+12G>A) c.630+12G>A (n.630+12G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47441812G>A | CA5976640 | RAPSN | c.789+11C>T (n.789+11C>T) c.630+11C>T (n.630+11C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47441812G>C | CA5976639 | RAPSN | c.789+11C>G (n.789+11C>G) c.630+11C>G (n.630+11C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47441812G= | CA1969387677 | RAPSN | c.789+11C= (n.789+11C=) c.630+11C= (n.630+11C=) | |
| 11 | g.47441812G>T | CA2613413495 | RAPSN | c.789+11C>A (n.789+11C>A) c.630+11C>A (n.630+11C>A) | gnomAD v4 |
| 11 | g.47441812_47441816del | CA937663788 | RAPSN | c.789+7_789+11del (n.789+7_789+11del) c.630+7_630+11del (n.630+7_630+11del) | gnomAD v3 gnomAD v4 |
| 11 | g.47441813G>C | CA1969387679 | RAPSN | c.789+10C>G (n.789+10C>G) c.630+10C>G (n.630+10C>G) | dbSNP gnomAD v4 |
| 11 | g.47441813G= | CA1969387678 | RAPSN | c.789+10C= (n.789+10C=) c.630+10C= (n.630+10C=) | |
| 11 | g.47441813G>T | CA2613413503 | RAPSN | c.789+10C>A (n.789+10C>A) c.630+10C>A (n.630+10C>A) | gnomAD v4 |
| 11 | g.47441814T>G | CA2613413504 | RAPSN | c.789+9A>C (n.789+9A>C) c.630+9A>C (n.630+9A>C) | gnomAD v4 |
| 11 | g.47441815del | CA2791336102 | RAPSN | c.789+8del (n.789+8del) c.630+8del (n.630+8del) | |
| 11 | g.47441815G>C | CA2580084186 | RAPSN | c.789+8C>G (n.789+8C>G) c.630+8C>G (n.630+8C>G) | ClinVar |
| 11 | g.47441815G>T | CA2613413508 | RAPSN | c.789+8C>A (n.789+8C>A) c.630+8C>A (n.630+8C>A) | gnomAD v4 |
| 11 | g.47441817C>A | CA2613413523 | RAPSN | c.789+6G>T (n.789+6G>T) c.630+6G>T (n.630+6G>T) | gnomAD v4 |
| 11 | g.47441818C>T | CA2613413526 | RAPSN | c.789+5G>A (n.789+5G>A) c.630+5G>A (n.630+5G>A) | gnomAD v4 |
| 11 | g.47441819T>C | CA2613413527 | RAPSN | c.789+4A>G (n.789+4A>G) c.630+4A>G (n.630+4A>G) | gnomAD v4 |
| 11 | g.47441820C>A | CA2613413533 | RAPSN | c.789+3G>T (n.789+3G>T) c.630+3G>T (n.630+3G>T) | gnomAD v4 |
| 11 | g.47441820C= | CA1969387680 | RAPSN | c.789+3G= (n.789+3G=) c.630+3G= (n.630+3G=) | |
| 11 | g.47441820C>T | CA1969387681 | RAPSN | c.789+3G>A (n.789+3G>A) c.630+3G>A (n.630+3G>A) | dbSNP gnomAD v4 |
| 11 | g.47441821A>C | CA380329882 | RAPSN | c.789+2T>G (n.789+2T>G) c.630+2T>G (n.630+2T>G) | gnomAD v3 gnomAD v4 |
| 11 | g.47441821A>G | CA380329884 | RAPSN | c.789+2T>C (n.789+2T>C) c.630+2T>C (n.630+2T>C) | gnomAD v4 |
| 11 | g.47441821A>T | CA380329887 | RAPSN | c.789+2T>A (n.789+2T>A) c.630+2T>A (n.630+2T>A) | |
| 11 | g.47441822C>A | CA380329888 | RAPSN | c.789+1G>T (n.789+1G>T) c.630+1G>T (n.630+1G>T) | gnomAD v4 |
| 11 | g.47441822C>G | CA380329889 | RAPSN | c.789+1G>C (n.789+1G>C) c.630+1G>C (n.630+1G>C) | |
| 11 | g.47441822C>T | CA380329890 | RAPSN | c.789+1G>A (n.789+1G>A) c.630+1G>A (n.630+1G>A) | |
| 11 | g.47441823C>A | CA380329893 | RAPSN | c.789G>T (p.Glu263Asp) c.630G>T (p.Glu210Asp) | gnomAD v4 |
| 11 | g.47441823C>G | CA380329892 | RAPSN | c.789G>C (p.Glu263Asp) c.630G>C (p.Glu210Asp) | |
| 11 | g.47441823C>T | CA474218211 | RAPSN | c.789G>A (p.Glu263=) c.630G>A (p.Glu210=) | gnomAD v4 |
| 11 | g.47441824T>A | CA380329896 | RAPSN | c.788A>T (p.Glu263Val) c.629A>T (p.Glu210Val) | gnomAD v4 |
| 11 | g.47441824T>C | CA380329898 | RAPSN | c.788A>G (p.Glu263Gly) c.629A>G (p.Glu210Gly) | |
| 11 | g.47441824T>G | CA380329904 | RAPSN | c.788A>C (p.Glu263Ala) c.629A>C (p.Glu210Ala) | |
| 11 | g.47441825C>A | CA380329907 | RAPSN | c.787G>T (p.Glu263Ter) c.628G>T (p.Glu210Ter) | gnomAD v4 |
| 11 | g.47441825C>G | CA380329909 | RAPSN | c.787G>C (p.Glu263Gln) c.628G>C (p.Glu210Gln) | |
| 11 | g.47441825C>T | CA380329910 | RAPSN | c.787G>A (p.Glu263Lys) c.628G>A (p.Glu210Lys) | |
| 11 | g.47441826C>A | CA474218213 | RAPSN | c.786G>T (p.Leu262=) c.627G>T (p.Leu209=) | gnomAD v4 |
| 11 | g.47441826C>G | CA474218214 | RAPSN | c.786G>C (p.Leu262=) c.627G>C (p.Leu209=) | |
| 11 | g.47441826C>T | CA474218215 | RAPSN | c.786G>A (p.Leu262=) c.627G>A (p.Leu209=) | gnomAD v4 |
| 11 | g.47441827A>C | CA380329913 | RAPSN | c.785T>G (p.Leu262Arg) c.626T>G (p.Leu209Arg) | |
| 11 | g.47441827A>G | CA380329915 | RAPSN | c.785T>C (p.Leu262Pro) c.626T>C (p.Leu209Pro) | gnomAD v4 |
| 11 | g.47441827A>T | CA380329914 | RAPSN | c.785T>A (p.Leu262Gln) c.626T>A (p.Leu209Gln) | |
| 11 | g.47441827_47441828del | CA1462199068 | RAPSN | c.784_785del (p.Leu262GlyfsTer?) c.625_626del (p.Leu209GlyfsTer?) | |
| 11 | g.47441828G>A | CA221716601 | RAPSN | c.784C>T (p.Leu262=) c.625C>T (p.Leu209=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47441828G>C | CA380329916 | RAPSN | c.784C>G (p.Leu262Val) c.625C>G (p.Leu209Val) | ClinVar |
| 11 | g.47441828G= | CA1969387682 | RAPSN | c.784C= (p.Leu262=) c.625C= (p.Leu209=) | |
| 11 | g.47441828G>T | CA380329918 | RAPSN | c.784C>A (p.Leu262Met) c.625C>A (p.Leu209Met) | gnomAD v4 |
| 11 | g.47441829G>A | CA474218219 | RAPSN | c.783C>T (p.Asp261=) c.624C>T (p.Asp208=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47441829G>C | CA380329920 | RAPSN | c.783C>G (p.Asp261Glu) c.624C>G (p.Asp208Glu) | |
| 11 | g.47441829G= | CA1969387683 | RAPSN | c.783C= (p.Asp261=) c.624C= (p.Asp208=) | |
| 11 | g.47441829G>T | CA380329921 | RAPSN | c.783C>A (p.Asp261Glu) c.624C>A (p.Asp208Glu) | gnomAD v4 |
| 11 | g.47441830T>A | CA380329928 | RAPSN | c.782A>T (p.Asp261Val) c.623A>T (p.Asp208Val) | |
| 11 | g.47441830T>C | CA380329930 | RAPSN | c.782A>G (p.Asp261Gly) c.623A>G (p.Asp208Gly) | |
| 11 | g.47441830T>G | CA380329932 | RAPSN | c.782A>C (p.Asp261Ala) c.623A>C (p.Asp208Ala) | |
| 11 | g.47441831C>A | CA380329934 | RAPSN | c.781G>T (p.Asp261Tyr) c.622G>T (p.Asp208Tyr) | gnomAD v4 |
| 11 | g.47441831C= | CA1969387684 | RAPSN | c.781G= (p.Asp261=) c.622G= (p.Asp208=) | |
| 11 | g.47441831C>G | CA380329936 | RAPSN | c.781G>C (p.Asp261His) c.622G>C (p.Asp208His) | |
| 11 | g.47441831C>T | CA5976641 | RAPSN | c.781G>A (p.Asp261Asn) c.622G>A (p.Asp208Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47441834del | CA2613413576 | RAPSN | c.781del (p.Asp261ThrfsTer13) c.781del (p.Asp261ThrfsTer4) c.622del (p.Asp208ThrfsTer13) c.781del (p.Asp261ThrfsTer22) | gnomAD v4 |
| 11 | g.47441832C>A | CA474218222 | RAPSN | c.780G>T (p.Gly260=) c.621G>T (p.Gly207=) | |
| 11 | g.47441832C= | CA1969387685 | RAPSN | c.780G= (p.Gly260=) c.621G= (p.Gly207=) | |
| 11 | g.47441832C>G | CA474218223 | RAPSN | c.780G>C (p.Gly260=) c.621G>C (p.Gly207=) | |
| 11 | g.47441832C>T | CA474218224 | RAPSN | c.780G>A (p.Gly260=) c.621G>A (p.Gly207=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47441833C>A | CA380329942 | RAPSN | c.779G>T (p.Gly260Val) c.620G>T (p.Gly207Val) | gnomAD v4 |
| 11 | g.47441833C>G | CA380329944 | RAPSN | c.779G>C (p.Gly260Ala) c.620G>C (p.Gly207Ala) | |
| 11 | g.47441833C>T | CA380329945 | RAPSN | c.779G>A (p.Gly260Glu) c.620G>A (p.Gly207Glu) | |
| 11 | g.47441834C>A | CA380329951 | RAPSN | c.778G>T (p.Gly260Trp) c.619G>T (p.Gly207Trp) | gnomAD v4 |
| 11 | g.47441834C>G | CA380329949 | RAPSN | c.778G>C (p.Gly260Arg) c.619G>C (p.Gly207Arg) | |
| 11 | g.47441834C>T | CA380329946 | RAPSN | c.778G>A (p.Gly260Arg) c.619G>A (p.Gly207Arg) | gnomAD v4 |
| 11 | g.47441835A>C | CA474218229 | RAPSN | c.777T>G (p.Arg259=) c.618T>G (p.Arg206=) | |
| 11 | g.47441835A>G | CA474218230 | RAPSN | c.777T>C (p.Arg259=) c.618T>C (p.Arg206=) | gnomAD v4 |
| 11 | g.47441835A>T | CA474218228 | RAPSN | c.777T>A (p.Arg259=) c.618T>A (p.Arg206=) | |
| 11 | g.47441836C>A | CA380329952 | RAPSN | c.776G>T (p.Arg259Leu) c.617G>T (p.Arg206Leu) | gnomAD v4 |
| 11 | g.47441836C= | CA1969387686 | RAPSN | c.776G= (p.Arg259=) c.617G= (p.Arg206=) | |
| 11 | g.47441836C>G | CA380329954 | RAPSN | c.776G>C (p.Arg259Pro) c.617G>C (p.Arg206Pro) | gnomAD v4 |
| 11 | g.47441836C>T | CA5976642 | RAPSN | c.776G>A (p.Arg259His) c.617G>A (p.Arg206His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47441837G>A | CA5976643 | RAPSN | c.775C>T (p.Arg259Cys) c.616C>T (p.Arg206Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47441837G>C | CA5976644 | RAPSN | c.775C>G (p.Arg259Gly) c.616C>G (p.Arg206Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47441837G= | CA1969387687 | RAPSN | c.775C= (p.Arg259=) c.616C= (p.Arg206=) | |
| 11 | g.47441837G>T | CA380329966 | RAPSN | c.775C>A (p.Arg259Ser) c.616C>A (p.Arg206Ser) | gnomAD v4 |
| 11 | g.47441838G>A | CA474218231 | RAPSN | c.774C>T (p.Ser258=) c.615C>T (p.Ser205=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47441838G>C | CA380329970 | RAPSN | c.774C>G (p.Ser258Arg) c.615C>G (p.Ser205Arg) | |
| 11 | g.47441838G>T | CA380329973 | RAPSN | c.774C>A (p.Ser258Arg) c.615C>A (p.Ser205Arg) | gnomAD v4 |
| 11 | g.47441839C>A | CA380329976 | RAPSN | c.773G>T (p.Ser258Ile) c.614G>T (p.Ser205Ile) | gnomAD v4 |
| 11 | g.47441839C>G | CA380329978 | RAPSN | c.773G>C (p.Ser258Thr) c.614G>C (p.Ser205Thr) | |
| 11 | g.47441839C>T | CA380329981 | RAPSN | c.773G>A (p.Ser258Asn) c.614G>A (p.Ser205Asn) | gnomAD v4 COSMIC |
| 11 | g.47441840T>A | CA380329985 | RAPSN | c.772A>T (p.Ser258Cys) c.613A>T (p.Ser205Cys) | |
| 11 | g.47441840T>C | CA380329987 | RAPSN | c.772A>G (p.Ser258Gly) c.613A>G (p.Ser205Gly) | gnomAD v4 |
| 11 | g.47441840T>G | CA380329989 | RAPSN | c.772A>C (p.Ser258Arg) c.613A>C (p.Ser205Arg) | |
| 11 | g.47441841C>A | CA474218233 | RAPSN | c.771G>T (p.Arg257=) c.612G>T (p.Arg204=) | gnomAD v4 |
| 11 | g.47441841C>G | CA474218235 | RAPSN | c.771G>C (p.Arg257=) c.612G>C (p.Arg204=) | |
| 11 | g.47441841C>T | CA474218234 | RAPSN | c.771G>A (p.Arg257=) c.612G>A (p.Arg204=) | gnomAD v4 |
| 11 | g.47441842C>A | CA380329996 | RAPSN | c.770G>T (p.Arg257Leu) c.611G>T (p.Arg204Leu) | gnomAD v4 |
| 11 | g.47441842C= | CA1969387688 | RAPSN | c.770G= (p.Arg257=) c.611G= (p.Arg204=) | |
| 11 | g.47441842C>G | CA380329998 | RAPSN | c.770G>C (p.Arg257Pro) c.611G>C (p.Arg204Pro) | gnomAD v4 |
| 11 | g.47441842C>T | CA5976645 | RAPSN | c.770G>A (p.Arg257Gln) c.611G>A (p.Arg204Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47441843G>A | CA5976646 | RAPSN | c.769C>T (p.Arg257Trp) c.610C>T (p.Arg204Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47441843G>C | CA380330004 | RAPSN | c.769C>G (p.Arg257Gly) c.610C>G (p.Arg204Gly) | ClinVar |
| 11 | g.47441843G= | CA1969387689 | RAPSN | c.769C= (p.Arg257=) c.610C= (p.Arg204=) | |
| 11 | g.47441843G>T | CA474218236 | RAPSN | c.769C>A (p.Arg257=) c.610C>A (p.Arg204=) | gnomAD v4 |
| 11 | g.47441844G>A | CA5976647 | RAPSN | c.768C>T (p.His256=) c.609C>T (p.His203=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47441844G>C | CA380330010 | RAPSN | c.768C>G (p.His256Gln) c.609C>G (p.His203Gln) | |
| 11 | g.47441844G= | CA1969387690 | RAPSN | c.768C= (p.His256=) c.609C= (p.His203=) | |
| 11 | g.47441844G>T | CA380330013 | RAPSN | c.768C>A (p.His256Gln) c.609C>A (p.His203Gln) | gnomAD v4 |
| 11 | g.47441845T>A | CA380330016 | RAPSN | c.767A>T (p.His256Leu) c.608A>T (p.His203Leu) | |
| 11 | g.47441845T>C | CA380330018 | RAPSN | c.767A>G (p.His256Arg) c.608A>G (p.His203Arg) | dbSNP |
| 11 | g.47441845T>G | CA380330020 | RAPSN | c.767A>C (p.His256Pro) c.608A>C (p.His203Pro) | dbSNP |
| 11 | g.47441845T= | CA1969387691 | RAPSN | c.767A= (p.His256=) c.608A= (p.His203=) | |
| 11 | g.47441846G>A | CA380330023 | RAPSN | c.766C>T (p.His256Tyr) c.607C>T (p.His203Tyr) | gnomAD v4 |
| 11 | g.47441846G>C | CA380330030 | RAPSN | c.766C>G (p.His256Asp) c.607C>G (p.His203Asp) | |
| 11 | g.47441846G>T | CA380330032 | RAPSN | c.766C>A (p.His256Asn) c.607C>A (p.His203Asn) | gnomAD v4 |
| 11 | g.47441847G>A | CA474218237 | RAPSN | c.765C>T (p.Ile255=) c.606C>T (p.Ile202=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47441847G>C | CA380330034 | RAPSN | c.765C>G (p.Ile255Met) c.606C>G (p.Ile202Met) | |
| 11 | g.47441847G= | CA1969387692 | RAPSN | c.765C= (p.Ile255=) c.606C= (p.Ile202=) | |
| 11 | g.47441847G>T | CA474218238 | RAPSN | c.765C>A (p.Ile255=) c.606C>A (p.Ile202=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47441848A= | CA1969387693 | RAPSN | c.764T= (p.Ile255=) c.605T= (p.Ile202=) | |
| 11 | g.47441848A>C | CA380330046 | RAPSN | c.764T>G (p.Ile255Ser) c.605T>G (p.Ile202Ser) | |
| 11 | g.47441848A>G | CA380330042 | RAPSN | c.764T>C (p.Ile255Thr) c.605T>C (p.Ile202Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47441848A>T | CA380330039 | RAPSN | c.764T>A (p.Ile255Asn) c.605T>A (p.Ile202Asn) | |
| 11 | g.47441849T>A | CA380330057 | RAPSN | c.763A>T (p.Ile255Phe) c.604A>T (p.Ile202Phe) | |
| 11 | g.47441849T>C | CA5976648 | RAPSN | c.763A>G (p.Ile255Val) c.604A>G (p.Ile202Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47441849T>G | CA380330061 | RAPSN | c.763A>C (p.Ile255Leu) c.604A>C (p.Ile202Leu) | |
| 11 | g.47441849T= | CA1969387694 | RAPSN | c.763A= (p.Ile255=) c.604A= (p.Ile202=) | |
| 11 | g.47441850G>A | CA474218241 | RAPSN | c.762C>T (p.Asp254=) c.603C>T (p.Asp201=) | gnomAD v4 |
| 11 | g.47441850G>C | CA380330064 | RAPSN | c.762C>G (p.Asp254Glu) c.603C>G (p.Asp201Glu) | |
| 11 | g.47441850G>T | CA380330065 | RAPSN | c.762C>A (p.Asp254Glu) c.603C>A (p.Asp201Glu) | gnomAD v4 |
| 11 | g.47441851T>A | CA380330069 | RAPSN | c.761A>T (p.Asp254Val) c.602A>T (p.Asp201Val) | gnomAD v4 |
| 11 | g.47441851T>C | CA380330077 | RAPSN | c.761A>G (p.Asp254Gly) c.602A>G (p.Asp201Gly) | |
| 11 | g.47441851T>G | CA380330081 | RAPSN | c.761A>C (p.Asp254Ala) c.602A>C (p.Asp201Ala) | |
| 11 | g.47441852C>A | CA380330082 | RAPSN | c.760G>T (p.Asp254Tyr) c.601G>T (p.Asp201Tyr) | |
| 11 | g.47441852C= | CA1969387695 | RAPSN | c.760G= (p.Asp254=) c.601G= (p.Asp201=) | |
| 11 | g.47441852C>G | CA380330083 | RAPSN | c.760G>C (p.Asp254His) c.601G>C (p.Asp201His) | |
| 11 | g.47441852C>T | CA5976649 | RAPSN | c.760G>A (p.Asp254Asn) c.601G>A (p.Asp201Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47441853A= | CA1969387696 | RAPSN | c.759T= (p.Ala253=) c.600T= (p.Ala200=) | |
| 11 | g.47441853A>C | CA474218256 | RAPSN | c.759T>G (p.Ala253=) c.600T>G (p.Ala200=) | |
| 11 | g.47441853A>G | CA221716691 | RAPSN | c.759T>C (p.Ala253=) c.600T>C (p.Ala200=) | dbSNP gnomAD v4 |
| 11 | g.47441853A>T | CA474218260 | RAPSN | c.759T>A (p.Ala253=) c.600T>A (p.Ala200=) | gnomAD v4 |
| 11 | g.47441854G>A | CA380330086 | RAPSN | c.758C>T (p.Ala253Val) c.599C>T (p.Ala200Val) | gnomAD v4 |
| 11 | g.47441854G>C | CA380330095 | RAPSN | c.758C>G (p.Ala253Gly) c.599C>G (p.Ala200Gly) | |
| 11 | g.47441854G>T | CA380330089 | RAPSN | c.758C>A (p.Ala253Asp) c.599C>A (p.Ala200Asp) | gnomAD v4 |
| 11 | g.47441855C>A | CA380330099 | RAPSN | c.757G>T (p.Ala253Ser) c.598G>T (p.Ala200Ser) | gnomAD v4 |
| 11 | g.47441855C>G | CA380330103 | RAPSN | c.757G>C (p.Ala253Pro) c.598G>C (p.Ala200Pro) | |
| 11 | g.47441855C>T | CA380330101 | RAPSN | c.757G>A (p.Ala253Thr) c.598G>A (p.Ala200Thr) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47441856G>A | CA5976650 | RAPSN | c.756C>T (p.Phe252=) c.597C>T (p.Phe199=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47441856G>C | CA380330112 | RAPSN | c.756C>G (p.Phe252Leu) c.597C>G (p.Phe199Leu) | |
| 11 | g.47441856G= | CA1969387697 | RAPSN | c.756C= (p.Phe252=) c.597C= (p.Phe199=) | |
| 11 | g.47441856G>T | CA380330110 | RAPSN | c.756C>A (p.Phe252Leu) c.597C>A (p.Phe199Leu) | gnomAD v4 |
| 11 | g.47441857A>C | CA380330115 | RAPSN | c.755T>G (p.Phe252Cys) c.596T>G (p.Phe199Cys) | |
| 11 | g.47441857A>G | CA380330116 | RAPSN | c.755T>C (p.Phe252Ser) c.596T>C (p.Phe199Ser) | |
| 11 | g.47441857A>T | CA380330117 | RAPSN | c.755T>A (p.Phe252Tyr) c.596T>A (p.Phe199Tyr) | |
| 11 | g.47441858A>C | CA380330118 | RAPSN | c.754T>G (p.Phe252Val) c.595T>G (p.Phe199Val) | |
| 11 | g.47441858A>G | CA380330119 | RAPSN | c.754T>C (p.Phe252Leu) c.595T>C (p.Phe199Leu) | |
| 11 | g.47441858A>T | CA380330121 | RAPSN | c.754T>A (p.Phe252Ile) c.595T>A (p.Phe199Ile) | gnomAD v4 |
| 11 | g.47441860_47441862del | CA2830782724 | RAPSN | c.752_754del (p.Cys251del) c.593_595del (p.Cys198del) | |
| 11 | g.47441859G>A | CA474218274 | RAPSN | c.753C>T (p.Cys251=) c.594C>T (p.Cys198=) | gnomAD v4 |
| 11 | g.47441859G>C | CA380330123 | RAPSN | c.753C>G (p.Cys251Trp) c.594C>G (p.Cys198Trp) | |
| 11 | g.47441859G>T | CA380330126 | RAPSN | c.753C>A (p.Cys251Ter) c.594C>A (p.Cys198Ter) | gnomAD v4 |
| 11 | g.47441860C>A | CA380330135 | RAPSN | c.752G>T (p.Cys251Phe) c.593G>T (p.Cys198Phe) | gnomAD v4 |
| 11 | g.47441860C>G | CA380330136 | RAPSN | c.752G>C (p.Cys251Ser) c.593G>C (p.Cys198Ser) | |
| 11 | g.47441860C>T | CA380330139 | RAPSN | c.752G>A (p.Cys251Tyr) c.593G>A (p.Cys198Tyr) | gnomAD v4 |
| 11 | g.47441861A>C | CA380330144 | RAPSN | c.751T>G (p.Cys251Gly) c.592T>G (p.Cys198Gly) | |
| 11 | g.47441861A>G | CA380330143 | RAPSN | c.751T>C (p.Cys251Arg) c.592T>C (p.Cys198Arg) | |
| 11 | g.47441861A>T | CA380330142 | RAPSN | c.751T>A (p.Cys251Ser) c.592T>A (p.Cys198Ser) | |
| 11 | g.47441862G>A | CA474218285 | RAPSN | c.750C>T (p.Leu250=) c.591C>T (p.Leu197=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47441862G>C | CA474218288 | RAPSN | c.750C>G (p.Leu250=) c.591C>G (p.Leu197=) | |
| 11 | g.47441862G>T | CA474218297 | RAPSN | c.750C>A (p.Leu250=) c.591C>A (p.Leu197=) | gnomAD v4 |
| 11 | g.47441863A= | CA1969387698 | RAPSN | c.749T= (p.Leu250=) c.590T= (p.Leu197=) | |
| 11 | g.47441863A>C | CA380330147 | RAPSN | c.749T>G (p.Leu250Arg) c.590T>G (p.Leu197Arg) | |
| 11 | g.47441863A>G | CA380330148 | RAPSN | c.749T>C (p.Leu250Pro) c.590T>C (p.Leu197Pro) | |
| 11 | g.47441863A>T | CA380330154 | RAPSN | c.749T>A (p.Leu250His) c.590T>A (p.Leu197His) | dbSNP |
| 11 | g.47441864G>A | CA380330157 | RAPSN | c.748C>T (p.Leu250Phe) c.589C>T (p.Leu197Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47441864G>C | CA380330163 | RAPSN | c.748C>G (p.Leu250Val) c.589C>G (p.Leu197Val) | |
| 11 | g.47441864G= | CA1969387699 | RAPSN | c.748C= (p.Leu250=) c.589C= (p.Leu197=) | |
| 11 | g.47441864G>T | CA380330170 | RAPSN | c.748C>A (p.Leu250Ile) c.589C>A (p.Leu197Ile) | gnomAD v4 |
| 11 | g.47441865C>A | CA474218306 | RAPSN | c.747G>T (p.Leu249=) c.588G>T (p.Leu196=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47441865C= | CA1969387700 | RAPSN | c.747G= (p.Leu249=) c.588G= (p.Leu196=) | |
| 11 | g.47441865C>G | CA474218309 | RAPSN | c.747G>C (p.Leu249=) c.588G>C (p.Leu196=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47441865C>T | CA474218312 | RAPSN | c.747G>A (p.Leu249=) c.588G>A (p.Leu196=) | gnomAD v4 |
| 11 | g.47441866A>C | CA380330172 | RAPSN | c.746T>G (p.Leu249Arg) c.587T>G (p.Leu196Arg) | |
| 11 | g.47441866A>G | CA380330174 | RAPSN | c.746T>C (p.Leu249Pro) c.587T>C (p.Leu196Pro) | |
| 11 | g.47441866A>T | CA380330181 | RAPSN | c.746T>A (p.Leu249Gln) c.587T>A (p.Leu196Gln) | gnomAD v4 |
| 11 | g.47441867G>A | CA474218319 | RAPSN | c.745C>T (p.Leu249=) c.586C>T (p.Leu196=) | ClinVar |
| 11 | g.47441867G>C | CA380330189 | RAPSN | c.745C>G (p.Leu249Val) c.586C>G (p.Leu196Val) | |
| 11 | g.47441867G>T | CA380330191 | RAPSN | c.745C>A (p.Leu249Met) c.586C>A (p.Leu196Met) | gnomAD v4 |
| 11 | g.47441868del | CA2613403478 | RAPSN | c.745del (p.Leu249CysfsTer25) c.745del (p.Leu249CysfsTer16) c.586del (p.Leu196CysfsTer25) c.745del (p.Leu249CysfsTer?) | gnomAD v4 |
| 11 | g.47441868G>A | CA5976651 | RAPSN | c.744C>T (p.Cys248=) c.585C>T (p.Cys195=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47441868G>C | CA380330195 | RAPSN | c.744C>G (p.Cys248Trp) c.585C>G (p.Cys195Trp) | |
| 11 | g.47441868G= | CA1969387701 | RAPSN | c.744C= (p.Cys248=) c.585C= (p.Cys195=) | |
| 11 | g.47441868G>T | CA380330193 | RAPSN | c.744C>A (p.Cys248Ter) c.585C>A (p.Cys195Ter) | gnomAD v4 |
| 11 | g.47441869C>A | CA380330197 | RAPSN | c.743G>T (p.Cys248Phe) c.584G>T (p.Cys195Phe) | gnomAD v4 |
| 11 | g.47441869C>G | CA380330207 | RAPSN | c.743G>C (p.Cys248Ser) c.584G>C (p.Cys195Ser) | |
| 11 | g.47441869C>T | CA380330209 | RAPSN | c.743G>A (p.Cys248Tyr) c.584G>A (p.Cys195Tyr) | gnomAD v4 |
| 11 | g.47441870A>C | CA380330210 | RAPSN | c.742T>G (p.Cys248Gly) c.583T>G (p.Cys195Gly) | |
| 11 | g.47441870A>G | CA380330212 | RAPSN | c.742T>C (p.Cys248Arg) c.583T>C (p.Cys195Arg) | gnomAD v4 |
| 11 | g.47441870A>T | CA380330222 | RAPSN | c.742T>A (p.Cys248Ser) c.583T>A (p.Cys195Ser) | |
| 11 | g.47441871G>A | CA474218337 | RAPSN | c.741C>T (p.Leu247=) c.582C>T (p.Leu194=) | gnomAD v4 COSMIC |
| 11 | g.47441871G>C | CA5976652 | RAPSN | c.741C>G (p.Leu247=) c.582C>G (p.Leu194=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47441871G= | CA1969387702 | RAPSN | c.741C= (p.Leu247=) c.582C= (p.Leu194=) | |
| 11 | g.47441871G>T | CA474218340 | RAPSN | c.741C>A (p.Leu247=) c.582C>A (p.Leu194=) | gnomAD v4 |
| 11 | g.47441872A>C | CA380330229 | RAPSN | c.740T>G (p.Leu247Arg) c.581T>G (p.Leu194Arg) | |
| 11 | g.47441872A>G | CA380330230 | RAPSN | c.740T>C (p.Leu247Pro) c.581T>C (p.Leu194Pro) | gnomAD v4 |
| 11 | g.47441872A>T | CA380330231 | RAPSN | c.740T>A (p.Leu247His) c.581T>A (p.Leu194His) | |
| 11 | g.47441873G>A | CA380330232 | RAPSN | c.739C>T (p.Leu247Phe) c.580C>T (p.Leu194Phe) | dbSNP gnomAD v4 COSMIC |
| 11 | g.47441873G>C | CA380330233 | RAPSN | c.739C>G (p.Leu247Val) c.580C>G (p.Leu194Val) | |
| 11 | g.47441873G= | CA1969387703 | RAPSN | c.739C= (p.Leu247=) c.580C= (p.Leu194=) | |
| 11 | g.47441873G>T | CA380330235 | RAPSN | c.739C>A (p.Leu247Ile) c.580C>A (p.Leu194Ile) | gnomAD v4 |
| 11 | g.47441874C>A | CA474218346 | RAPSN | c.738G>T (p.Ala246=) c.579G>T (p.Ala193=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47441874C= | CA1969387704 | RAPSN | c.738G= (p.Ala246=) c.579G= (p.Ala193=) | |
| 11 | g.47441874C>G | CA474218344 | RAPSN | c.738G>C (p.Ala246=) c.579G>C (p.Ala193=) | gnomAD v4 |
| 11 | g.47441874C>T | CA221716734 | RAPSN | c.738G>A (p.Ala246=) c.579G>A (p.Ala193=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47441874_47441875insT | CA2574817152 | RAPSN | c.737_738insA (p.Leu247AlafsTer8) c.578_579insA (p.Leu194AlafsTer8) | ClinVar |
| 11 | g.47441875G>A | CA275256 | RAPSN | c.737C>T (p.Ala246Val) c.578C>T (p.Ala193Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47441875G>C | CA380330238 | RAPSN | c.737C>G (p.Ala246Gly) c.578C>G (p.Ala193Gly) | |
| 11 | g.47441875G= | CA1969387705 | RAPSN | c.737C= (p.Ala246=) c.578C= (p.Ala193=) | |
| 11 | g.47441875G>T | CA380330239 | RAPSN | c.737C>A (p.Ala246Glu) c.578C>A (p.Ala193Glu) | gnomAD v4 |
| 11 | g.47441876C>A | CA380330244 | RAPSN | c.736G>T (p.Ala246Ser) c.577G>T (p.Ala193Ser) | gnomAD v4 |
| 11 | g.47441876C>G | CA380330246 | RAPSN | c.736G>C (p.Ala246Pro) c.577G>C (p.Ala193Pro) | |
| 11 | g.47441876C>T | CA380330251 | RAPSN | c.736G>A (p.Ala246Thr) c.577G>A (p.Ala193Thr) | gnomAD v4 |
| 11 | g.47441877C>A | CA380330253 | RAPSN | c.735G>T (p.Gln245His) c.576G>T (p.Gln192His) | gnomAD v4 |
| 11 | g.47441877C>G | CA380330256 | RAPSN | c.735G>C (p.Gln245His) c.576G>C (p.Gln192His) | |
| 11 | g.47441877C>T | CA474218361 | RAPSN | c.735G>A (p.Gln245=) c.576G>A (p.Gln192=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47441878T>A | CA380330260 | RAPSN | c.734A>T (p.Gln245Leu) c.575A>T (p.Gln192Leu) | |
| 11 | g.47441878T>C | CA380330264 | RAPSN | c.734A>G (p.Gln245Arg) c.575A>G (p.Gln192Arg) | gnomAD v4 |
| 11 | g.47441878T>G | CA380330265 | RAPSN | c.734A>C (p.Gln245Pro) c.575A>C (p.Gln192Pro) | |
| 11 | g.47441879G>A | CA380330266 | RAPSN | c.733C>T (p.Gln245Ter) c.574C>T (p.Gln192Ter) | ClinVar gnomAD v4 |
| 11 | g.47441879G>C | CA380330267 | RAPSN | c.733C>G (p.Gln245Glu) c.574C>G (p.Gln192Glu) | gnomAD v4 |
| 11 | g.47441879G= | CA1969387706 | RAPSN | c.733C= (p.Gln245=) c.574C= (p.Gln192=) | |
| 11 | g.47441879G>T | CA380330268 | RAPSN | c.733C>A (p.Gln245Lys) c.574C>A (p.Gln192Lys) | gnomAD v4 |
| 11 | g.47441880C>A | CA474218369 | RAPSN | c.732G>T (p.Leu244=) c.573G>T (p.Leu191=) | gnomAD v4 |
| 11 | g.47441880C>G | CA474218372 | RAPSN | c.732G>C (p.Leu244=) c.573G>C (p.Leu191=) | |
| 11 | g.47441880C>T | CA474218371 | RAPSN | c.732G>A (p.Leu244=) c.573G>A (p.Leu191=) | gnomAD v4 |
| 11 | g.47441880_47441923dup | CA1139661959 | RAPSN | c.691-2_732dup c.532-2_573dup | ClinVar dbSNP |
| 11 | g.47441881A= | CA1969387707 | RAPSN | c.731T= (p.Leu244=) c.572T= (p.Leu191=) | |
| 11 | g.47441881A>C | CA380330281 | RAPSN | c.731T>G (p.Leu244Arg) c.572T>G (p.Leu191Arg) | |
| 11 | g.47441881A>G | CA380330278 | RAPSN | c.731T>C (p.Leu244Pro) c.572T>C (p.Leu191Pro) | ClinVar dbSNP |
| 11 | g.47441881A>T | CA380330271 | RAPSN | c.731T>A (p.Leu244Gln) c.572T>A (p.Leu191Gln) | gnomAD v4 |
| 11 | g.47441882G>A | CA474218383 | RAPSN | c.730C>T (p.Leu244=) c.571C>T (p.Leu191=) | gnomAD v4 |
| 11 | g.47441882G>C | CA380330285 | RAPSN | c.730C>G (p.Leu244Val) c.571C>G (p.Leu191Val) | |
| 11 | g.47441882G>T | CA380330292 | RAPSN | c.730C>A (p.Leu244Met) c.571C>A (p.Leu191Met) | gnomAD v4 |
| 11 | g.47441883T>A | CA474218385 | RAPSN | c.729A>T (p.Pro243=) c.570A>T (p.Pro190=) | gnomAD v4 |
| 11 | g.47441883T>C | CA474218386 | RAPSN | c.729A>G (p.Pro243=) c.570A>G (p.Pro190=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47441883T>G | CA474218389 | RAPSN | c.729A>C (p.Pro243=) c.570A>C (p.Pro190=) | dbSNP |
| 11 | g.47441883T= | CA1969387708 | RAPSN | c.729A= (p.Pro243=) c.570A= (p.Pro190=) | |
| 11 | g.47441884G>A | CA380330296 | RAPSN | c.728C>T (p.Pro243Leu) c.569C>T (p.Pro190Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47441884G>C | CA380330298 | RAPSN | c.728C>G (p.Pro243Arg) c.569C>G (p.Pro190Arg) | |
| 11 | g.47441884G= | CA1969387709 | RAPSN | c.728C= (p.Pro243=) c.569C= (p.Pro190=) | |
| 11 | g.47441884G>T | CA380330305 | RAPSN | c.728C>A (p.Pro243Gln) c.569C>A (p.Pro190Gln) | gnomAD v4 |
| 11 | g.47441885G>A | CA380330316 | RAPSN | c.727C>T (p.Pro243Ser) c.568C>T (p.Pro190Ser) | gnomAD v4 |
| 11 | g.47441885G>C | CA380330318 | RAPSN | c.727C>G (p.Pro243Ala) c.568C>G (p.Pro190Ala) | gnomAD v4 |
| 11 | g.47441885G>T | CA380330321 | RAPSN | c.727C>A (p.Pro243Thr) c.568C>A (p.Pro190Thr) | gnomAD v4 |
| 11 | g.47441886C>A | CA474218398 | RAPSN | c.726G>T (p.Arg242=) c.567G>T (p.Arg189=) | |
| 11 | g.47441886C= | CA1969387710 | RAPSN | c.726G= (p.Arg242=) c.567G= (p.Arg189=) | |
| 11 | g.47441886C>G | CA474218400 | RAPSN | c.726G>C (p.Arg242=) c.567G>C (p.Arg189=) | |
| 11 | g.47441886C>T | CA5976653 | RAPSN | c.726G>A (p.Arg242=) c.567G>A (p.Arg189=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47441887C>A | CA380330336 | RAPSN | c.725G>T (p.Arg242Leu) c.566G>T (p.Arg189Leu) | gnomAD v4 |
| 11 | g.47441887C= | CA1969387711 | RAPSN | c.725G= (p.Arg242=) c.566G= (p.Arg189=) | |
| 11 | g.47441887C>G | CA5976655 | RAPSN | c.725G>C (p.Arg242Pro) c.566G>C (p.Arg189Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47441887C>T | CA5976654 | RAPSN | c.725G>A (p.Arg242Gln) c.566G>A (p.Arg189Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47441888G>A | CA221716778 | RAPSN | c.724C>T (p.Arg242Trp) c.565C>T (p.Arg189Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47441888G>C | CA380330346 | RAPSN | c.724C>G (p.Arg242Gly) c.565C>G (p.Arg189Gly) | ClinVar |
| 11 | g.47441888G= | CA1969387712 | RAPSN | c.724C= (p.Arg242=) c.565C= (p.Arg189=) | |
| 11 | g.47441888G>T | CA474218415 | RAPSN | c.724C>A (p.Arg242=) c.565C>A (p.Arg189=) | gnomAD v4 |
| 11 | g.47441889G>A | CA5976656 | RAPSN | c.723C>T (p.Asp241=) c.564C>T (p.Asp188=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47441889G>C | CA380330356 | RAPSN | c.723C>G (p.Asp241Glu) c.564C>G (p.Asp188Glu) | |
| 11 | g.47441889G= | CA1969387713 | RAPSN | c.723C= (p.Asp241=) c.564C= (p.Asp188=) | |
| 11 | g.47441889G>T | CA380330353 | RAPSN | c.723C>A (p.Asp241Glu) c.564C>A (p.Asp188Glu) | gnomAD v4 |
| 11 | g.47441890T>A | CA380330361 | RAPSN | c.722A>T (p.Asp241Val) c.563A>T (p.Asp188Val) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47441890T>C | CA380330364 | RAPSN | c.722A>G (p.Asp241Gly) c.563A>G (p.Asp188Gly) | gnomAD v4 |
| 11 | g.47441890T>G | CA380330367 | RAPSN | c.722A>C (p.Asp241Ala) c.563A>C (p.Asp188Ala) | dbSNP gnomAD v4 |
| 11 | g.47441890T= | CA1969387714 | RAPSN | c.722A= (p.Asp241=) c.563A= (p.Asp188=) | |
| 11 | g.47441891C>A | CA380330369 | RAPSN | c.721G>T (p.Asp241Tyr) c.562G>T (p.Asp188Tyr) | gnomAD v4 |
| 11 | g.47441891C= | CA1969387715 | RAPSN | c.721G= (p.Asp241=) c.562G= (p.Asp188=) | |
| 11 | g.47441891C>G | CA380330370 | RAPSN | c.721G>C (p.Asp241His) c.562G>C (p.Asp188His) | |
| 11 | g.47441891C>T | CA380330371 | RAPSN | c.721G>A (p.Asp241Asn) c.562G>A (p.Asp188Asn) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.47441894del | CA2613403883 | RAPSN | c.721del (p.Asp241ThrfsTer?) c.721del (p.Asp241ThrfsTer24) c.562del (p.Asp188ThrfsTer?) | gnomAD v4 |
| 11 | g.47441892C>A | CA474218428 | RAPSN | c.720G>T (p.Gly240=) c.561G>T (p.Gly187=) | gnomAD v4 |
| 11 | g.47441892C>G | CA474218429 | RAPSN | c.720G>C (p.Gly240=) c.561G>C (p.Gly187=) | gnomAD v4 |
| 11 | g.47441892C>T | CA474218431 | RAPSN | c.720G>A (p.Gly240=) c.561G>A (p.Gly187=) | gnomAD v4 |
| 11 | g.47441893C>A | CA380330375 | RAPSN | c.719G>T (p.Gly240Val) c.560G>T (p.Gly187Val) | gnomAD v4 |
| 11 | g.47441893C>G | CA380330377 | RAPSN | c.719G>C (p.Gly240Ala) c.560G>C (p.Gly187Ala) | |
| 11 | g.47441893C>T | CA380330381 | RAPSN | c.719G>A (p.Gly240Glu) c.560G>A (p.Gly187Glu) | gnomAD v4 |
| 11 | g.47441894C>A | CA221716809 | RAPSN | c.718G>T (p.Gly240Trp) c.559G>T (p.Gly187Trp) | dbSNP gnomAD v4 |
| 11 | g.47441894C= | CA1969387716 | RAPSN | c.718G= (p.Gly240=) c.559G= (p.Gly187=) | |
| 11 | g.47441894C>G | CA380330388 | RAPSN | c.718G>C (p.Gly240Arg) c.559G>C (p.Gly187Arg) | dbSNP gnomAD v4 |
| 11 | g.47441894C>T | CA5976657 | RAPSN | c.718G>A (p.Gly240Arg) c.559G>A (p.Gly187Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47441895G>A | CA5976658 | RAPSN | c.717C>T (p.His239=) c.558C>T (p.His186=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47441895G>C | CA380330395 | RAPSN | c.717C>G (p.His239Gln) c.558C>G (p.His186Gln) | |
| 11 | g.47441895G= | CA1969387717 | RAPSN | c.717C= (p.His239=) c.558C= (p.His186=) | |
| 11 | g.47441895G>T | CA380330393 | RAPSN | c.717C>A (p.His239Gln) c.558C>A (p.His186Gln) | gnomAD v4 |