Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.41767307C>A | CA2637858917 | JUP | c.909+72G>T (n.909+72G>T) c.960+72G>T (n.960+72G>T) | gnomAD v4 |
17 | g.41767307C>T | CA2637858918 | JUP | c.909+72G>A (n.909+72G>A) c.960+72G>A (n.960+72G>A) | gnomAD v4 |
17 | g.41767309C>A | CA2260175088 | JUP | c.909+70G>T (n.909+70G>T) c.960+70G>T (n.960+70G>T) | dbSNP gnomAD v4 |
17 | g.41767309C= | CA2260175087 | JUP | c.909+70G= (n.909+70G=) c.960+70G= (n.960+70G=) | |
17 | g.41767309C>T | CA2637858919 | JUP | c.909+70G>A (n.909+70G>A) c.960+70G>A (n.960+70G>A) | gnomAD v4 |
17 | g.41767311A>G | CA2576268938 | JUP | c.909+68T>C (n.909+68T>C) c.960+68T>C (n.960+68T>C) | |
17 | g.41767312G>A | CA2260175089 | JUP | c.909+67C>T (n.909+67C>T) c.960+67C>T (n.960+67C>T) | dbSNP gnomAD v4 |
17 | g.41767312G= | CA2260175090 | JUP | c.909+67C= (n.909+67C=) c.960+67C= (n.960+67C=) | |
17 | g.41767312G>T | CA2576268939 | JUP | c.909+67C>A (n.909+67C>A) c.960+67C>A (n.960+67C>A) | gnomAD v4 |
17 | g.41767313G>A | CA626216149 | JUP | c.909+66C>T (n.909+66C>T) c.960+66C>T (n.960+66C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.41767313G>C | CA2260175092 | JUP | c.909+66C>G (n.909+66C>G) c.960+66C>G (n.960+66C>G) | dbSNP |
17 | g.41767313G= | CA2260175091 | JUP | c.909+66C= (n.909+66C=) c.960+66C= (n.960+66C=) | |
17 | g.41767313G>T | CA2637858920 | JUP | c.909+66C>A (n.909+66C>A) c.960+66C>A (n.960+66C>A) | gnomAD v4 |
17 | g.41767314C>G | CA2637858921 | JUP | c.909+65G>C (n.909+65G>C) c.960+65G>C (n.960+65G>C) | gnomAD v4 |
17 | g.41767314C>T | CA2637858922 | JUP | c.909+65G>A (n.909+65G>A) c.960+65G>A (n.960+65G>A) | gnomAD v4 |
17 | g.41767316G>A | CA2637858923 | JUP | c.909+63C>T (n.909+63C>T) c.960+63C>T (n.960+63C>T) | gnomAD v4 |
17 | g.41767316G>T | CA2637858924 | JUP | c.909+63C>A (n.909+63C>A) c.960+63C>A (n.960+63C>A) | gnomAD v4 |
17 | g.41767317T>C | CA626216150 | JUP | c.909+62A>G (n.909+62A>G) c.960+62A>G (n.960+62A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.41767317T= | CA2260175093 | JUP | c.909+62A= (n.909+62A=) c.960+62A= (n.960+62A=) | |
17 | g.41767318G>A | CA2637858926 | JUP | c.909+61C>T (n.909+61C>T) c.960+61C>T (n.960+61C>T) | gnomAD v4 |
17 | g.41767318G>T | CA2637858925 | JUP | c.909+61C>A (n.909+61C>A) c.960+61C>A (n.960+61C>A) | gnomAD v4 |
17 | g.41767319C>T | CA2576268940 | JUP | c.909+60G>A (n.909+60G>A) c.960+60G>A (n.960+60G>A) | gnomAD v4 |
17 | g.41767321G>A | CA626216151 | JUP | c.909+58C>T (n.909+58C>T) c.960+58C>T (n.960+58C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.41767321G= | CA2260175094 | JUP | c.909+58C= (n.909+58C=) c.960+58C= (n.960+58C=) | |
17 | g.41767321G>T | CA2637858927 | JUP | c.909+58C>A (n.909+58C>A) c.960+58C>A (n.960+58C>A) | gnomAD v4 |
17 | g.41767322G>T | CA2637858928 | JUP | c.909+57C>A (n.909+57C>A) c.960+57C>A (n.960+57C>A) | gnomAD v4 |
17 | g.41767324T>C | CA2576268941 | JUP | c.909+55A>G (n.909+55A>G) c.960+55A>G (n.960+55A>G) | gnomAD v4 |
17 | g.41767324T>G | CA2637858929 | JUP | c.909+55A>C (n.909+55A>C) c.960+55A>C (n.960+55A>C) | gnomAD v4 |
17 | g.41767325A= | CA2260175095 | JUP | c.909+54T= (n.909+54T=) c.960+54T= (n.960+54T=) | |
17 | g.41767325A>G | CA983787900 | JUP | c.909+54T>C (n.909+54T>C) c.960+54T>C (n.960+54T>C) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.41767328_41767330del | CA2809501656 | JUP | c.909+52_909+54del (n.909+52_909+54del) c.960+52_960+54del (n.960+52_960+54del) | |
17 | g.41767326G>A | CA290699959 | JUP | c.909+53C>T (n.909+53C>T) c.960+53C>T (n.960+53C>T) | dbSNP gnomAD v4 |
17 | g.41767326G= | CA2260175096 | JUP | c.909+53C= (n.909+53C=) c.960+53C= (n.960+53C=) | |
17 | g.41767326G>T | CA2637858930 | JUP | c.909+53C>A (n.909+53C>A) c.960+53C>A (n.960+53C>A) | gnomAD v4 |
17 | g.41767327A= | CA2260175097 | JUP | c.909+52T= (n.909+52T=) c.960+52T= (n.960+52T=) | |
17 | g.41767327A>C | CA2637858931 | JUP | c.909+52T>G (n.909+52T>G) c.960+52T>G (n.960+52T>G) | gnomAD v4 |
17 | g.41767327A>G | CA2260175098 | JUP | c.909+52T>C (n.909+52T>C) c.960+52T>C (n.960+52T>C) | dbSNP |
17 | g.41767328A>G | CA2576268943 | JUP | c.909+51T>C (n.909+51T>C) c.960+51T>C (n.960+51T>C) | |
17 | g.41767328_41767331del | CA2576268942 | JUP | c.909+48_909+51del (n.909+48_909+51del) c.960+48_960+51del (n.960+48_960+51del) | |
17 | g.41767329G>A | CA2576268944 | JUP | c.909+50C>T (n.909+50C>T) c.960+50C>T (n.960+50C>T) | |
17 | g.41767329G>T | CA2637858932 | JUP | c.909+50C>A (n.909+50C>A) c.960+50C>A (n.960+50C>A) | gnomAD v4 |
17 | g.41767330A= | CA2260175099 | JUP | c.909+49T= (n.909+49T=) c.960+49T= (n.960+49T=) | |
17 | g.41767330A>C | CA2581308412 | JUP | c.909+49T>G (n.909+49T>G) c.960+49T>G (n.960+49T>G) | |
17 | g.41767330A>G | CA8565353 | JUP | c.909+49T>C (n.909+49T>C) c.960+49T>C (n.960+49T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.41767330A>T | CA2581308413 | JUP | c.909+49T>A (n.909+49T>A) c.960+49T>A (n.960+49T>A) | |
17 | g.41767331T>C | CA290699964 | JUP | c.909+48A>G (n.909+48A>G) c.960+48A>G (n.960+48A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.41767331T>G | CA2809501657 | JUP | c.909+48A>C (n.909+48A>C) c.960+48A>C (n.960+48A>C) | |
17 | g.41767331T= | CA2260175100 | JUP | c.909+48A= (n.909+48A=) c.960+48A= (n.960+48A=) | |
17 | g.41767332G>A | CA8565354 | JUP | c.909+47C>T (n.909+47C>T) c.960+47C>T (n.960+47C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.41767332G= | CA2260175101 | JUP | c.909+47C= (n.909+47C=) c.960+47C= (n.960+47C=) | |
17 | g.41767332G>T | CA2637858933 | JUP | c.909+47C>A (n.909+47C>A) c.960+47C>A (n.960+47C>A) | gnomAD v4 |
17 | g.41767333G>A | CA626216152 | JUP | c.909+46C>T (n.909+46C>T) c.960+46C>T (n.960+46C>T) | dbSNP gnomAD v2 |
17 | g.41767333G= | CA2260175102 | JUP | c.909+46C= (n.909+46C=) c.960+46C= (n.960+46C=) | |
17 | g.41767333G>T | CA2637858934 | JUP | c.909+46C>A (n.909+46C>A) c.960+46C>A (n.960+46C>A) | gnomAD v4 |
17 | g.41767334C>A | CA626216153 | JUP | c.909+45G>T (n.909+45G>T) c.960+45G>T (n.960+45G>T) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.41767334C= | CA2260175103 | JUP | c.909+45G= (n.909+45G=) c.960+45G= (n.960+45G=) | |
17 | g.41767334C>T | CA626216154 | JUP | c.909+45G>A (n.909+45G>A) c.960+45G>A (n.960+45G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.41767335G>A | CA8565355 | JUP | c.909+44C>T (n.909+44C>T) c.960+44C>T (n.960+44C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.41767335G= | CA2260175104 | JUP | c.909+44C= (n.909+44C=) c.960+44C= (n.960+44C=) | |
17 | g.41767335G>T | CA626216155 | JUP | c.909+44C>A (n.909+44C>A) c.960+44C>A (n.960+44C>A) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.41767336C>T | CA2809501658 | JUP | c.909+43G>A (n.909+43G>A) c.960+43G>A (n.960+43G>A) | |
17 | g.41767338dup | CA2637858935 | JUP | c.909+42dup (n.909+42dup) c.960+42dup (n.960+42dup) | gnomAD v4 |
17 | g.41767338A>T | CA2637858936 | JUP | c.909+41T>A (n.909+41T>A) c.960+41T>A (n.960+41T>A) | gnomAD v4 |
17 | g.41767339G>A | CA2637858937 | JUP | c.909+40C>T (n.909+40C>T) c.960+40C>T (n.960+40C>T) | gnomAD v4 |
17 | g.41767339G>C | CA2637858938 | JUP | c.909+40C>G (n.909+40C>G) c.960+40C>G (n.960+40C>G) | gnomAD v4 |
17 | g.41767339G>T | CA2637858939 | JUP | c.909+40C>A (n.909+40C>A) c.960+40C>A (n.960+40C>A) | gnomAD v4 |
17 | g.41767340G>A | CA8565356 | JUP | c.909+39C>T (n.909+39C>T) c.960+39C>T (n.960+39C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.41767340G>C | CA2637858940 | JUP | c.909+39C>G (n.909+39C>G) c.960+39C>G (n.960+39C>G) | gnomAD v4 |
17 | g.41767340G= | CA2260175105 | JUP | c.909+39C= (n.909+39C=) c.960+39C= (n.960+39C=) | |
17 | g.41767340G>T | CA2576268945 | JUP | c.909+39C>A (n.909+39C>A) c.960+39C>A (n.960+39C>A) | gnomAD v4 |
17 | g.41767341G>A | CA626216156 | JUP | c.909+38C>T (n.909+38C>T) c.960+38C>T (n.960+38C>T) | dbSNP gnomAD v2 |
17 | g.41767341G= | CA2260175106 | JUP | c.909+38C= (n.909+38C=) c.960+38C= (n.960+38C=) | |
17 | g.41767341G>T | CA2637858941 | JUP | c.909+38C>A (n.909+38C>A) c.960+38C>A (n.960+38C>A) | gnomAD v4 |
17 | g.41767342T>C | CA2637858942 | JUP | c.909+37A>G (n.909+37A>G) c.960+37A>G (n.960+37A>G) | gnomAD v4 |
17 | g.41767342T>G | CA2637858943 | JUP | c.909+37A>C (n.909+37A>C) c.960+37A>C (n.960+37A>C) | gnomAD v4 |
17 | g.41767343G>A | CA2576268947 | JUP | c.909+36C>T (n.909+36C>T) c.960+36C>T (n.960+36C>T) | gnomAD v4 |
17 | g.41767343G>T | CA2637858944 | JUP | c.909+36C>A (n.909+36C>A) c.960+36C>A (n.960+36C>A) | gnomAD v4 |
17 | g.41767345del | CA2576268946 | JUP | c.909+36del (n.909+36del) c.960+36del (n.960+36del) | gnomAD v4 |
17 | g.41767344G>A | CA8565357 | JUP | c.909+35C>T (n.909+35C>T) c.960+35C>T (n.960+35C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.41767344G= | CA2260175107 | JUP | c.909+35C= (n.909+35C=) c.960+35C= (n.960+35C=) | |
17 | g.41767344G>T | CA2637858945 | JUP | c.909+35C>A (n.909+35C>A) c.960+35C>A (n.960+35C>A) | gnomAD v4 |
17 | g.41767345G>A | CA626216157 | JUP | c.909+34C>T (n.909+34C>T) c.960+34C>T (n.960+34C>T) | gnomAD v2 gnomAD v4 |
17 | g.41767345G>C | CA8565358 | JUP | c.909+34C>G (n.909+34C>G) c.960+34C>G (n.960+34C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.41767345G= | CA2260175108 | JUP | c.909+34C= (n.909+34C=) c.960+34C= (n.960+34C=) | |
17 | g.41767345G>T | CA2637858946 | JUP | c.909+34C>A (n.909+34C>A) c.960+34C>A (n.960+34C>A) | gnomAD v4 |
17 | g.41767345_41767346delinsGC | CA2260175109 | JUP | c.909+33_909+34delinsGC (n.909+33_909+34delinsGC) c.960+33_960+34delinsGC (n.960+33_960+34delinsGC) | |
17 | g.41767346del | CA626216158 | JUP | c.909+33del (n.909+33del) c.960+33del (n.960+33del) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.41767347T>G | CA626216159 | JUP | c.909+32A>C (n.909+32A>C) c.960+32A>C (n.960+32A>C) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.41767347T= | CA2260175110 | JUP | c.909+32A= (n.909+32A=) c.960+32A= (n.960+32A=) | |
17 | g.41767348T>C | CA2809501659 | JUP | c.909+31A>G (n.909+31A>G) c.960+31A>G (n.960+31A>G) | |
17 | g.41767350A>G | CA2637858947 | JUP | c.909+29T>C (n.909+29T>C) c.960+29T>C (n.960+29T>C) | gnomAD v4 |
17 | g.41767351G>A | CA2637858948 | JUP | c.909+28C>T (n.909+28C>T) c.960+28C>T (n.960+28C>T) | gnomAD v4 |
17 | g.41767351G>T | CA2637858949 | JUP | c.909+28C>A (n.909+28C>A) c.960+28C>A (n.960+28C>A) | gnomAD v4 |
17 | g.41767352G>A | CA983787920 | JUP | c.909+27C>T (n.909+27C>T) c.960+27C>T (n.960+27C>T) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.41767352G= | CA2260175111 | JUP | c.909+27C= (n.909+27C=) c.960+27C= (n.960+27C=) | |
17 | g.41767352G>T | CA2576268948 | JUP | c.909+27C>A (n.909+27C>A) c.960+27C>A (n.960+27C>A) | gnomAD v4 |
17 | g.41767353C>A | CA2637858951 | JUP | c.909+26G>T (n.909+26G>T) c.960+26G>T (n.960+26G>T) | gnomAD v4 |
17 | g.41767353C>T | CA2637858950 | JUP | c.909+26G>A (n.909+26G>A) c.960+26G>A (n.960+26G>A) | gnomAD v4 |
17 | g.41767354C= | CA2260175112 | JUP | c.909+25G= (n.909+25G=) c.960+25G= (n.960+25G=) | |
17 | g.41767354C>T | CA2260175113 | JUP | c.909+25G>A (n.909+25G>A) c.960+25G>A (n.960+25G>A) | dbSNP |
17 | g.41767355T>C | CA2809501660 | JUP | c.909+24A>G (n.909+24A>G) c.960+24A>G (n.960+24A>G) | |
17 | g.41767356C>A | CA772068376 | JUP | c.909+23G>T (n.909+23G>T) c.960+23G>T (n.960+23G>T) | dbSNP |
17 | g.41767356C= | CA2260175114 | JUP | c.909+23G= (n.909+23G=) c.960+23G= (n.960+23G=) | |
17 | g.41767356C>T | CA8565359 | JUP | c.909+23G>A (n.909+23G>A) c.960+23G>A (n.960+23G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.41767357G>A | CA8565360 | JUP | c.909+22C>T (n.909+22C>T) c.960+22C>T (n.960+22C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.41767357G= | CA2260175115 | JUP | c.909+22C= (n.909+22C=) c.960+22C= (n.960+22C=) | |
17 | g.41767357G>T | CA2637858952 | JUP | c.909+22C>A (n.909+22C>A) c.960+22C>A (n.960+22C>A) | gnomAD v4 |
17 | g.41767358G>T | CA2637858953 | JUP | c.909+21C>A (n.909+21C>A) c.960+21C>A (n.960+21C>A) | gnomAD v4 |
17 | g.41767359G>A | CA2573153772 | JUP | c.909+20C>T (n.909+20C>T) c.960+20C>T (n.960+20C>T) | ClinVar dbSNP |
17 | g.41767360del | CA656362536 | JUP | c.909+19del (n.909+19del) c.960+19del (n.960+19del) | COSMIC |
17 | g.41767360A>G | CA983787928 | JUP | c.909+19T>C (n.909+19T>C) c.960+19T>C (n.960+19T>C) | gnomAD v3 gnomAD v4 |
17 | g.41767360A>T | CA2637858954 | JUP | c.909+19T>A (n.909+19T>A) c.960+19T>A (n.960+19T>A) | gnomAD v4 |
17 | g.41767361G>T | CA2637858955 | JUP | c.909+18C>A (n.909+18C>A) c.960+18C>A (n.960+18C>A) | gnomAD v4 |
17 | g.41767362del | CA2637858956 | JUP | c.909+17del (n.909+17del) c.960+17del (n.960+17del) | gnomAD v4 |
17 | g.41767362A= | CA2260175116 | JUP | c.909+17T= (n.909+17T=) c.960+17T= (n.960+17T=) | |
17 | g.41767362A>C | CA2581308414 | JUP | c.909+17T>G (n.909+17T>G) c.960+17T>G (n.960+17T>G) | |
17 | g.41767362A>G | CA8565361 | JUP | c.909+17T>C (n.909+17T>C) c.960+17T>C (n.960+17T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.41767362A>T | CA2260175117 | JUP | c.909+17T>A (n.909+17T>A) c.960+17T>A (n.960+17T>A) | dbSNP gnomAD v4 |
17 | g.41767363G>A | CA2637858959 | JUP | c.909+16C>T (n.909+16C>T) c.960+16C>T (n.960+16C>T) | gnomAD v4 |
17 | g.41767363_41767364insGCCTCGGGAGGG | CA2637858957 | JUP | c.909+16_909+17insCCTCCCGAGGCC (n.909+16_909+17insCCTCCCGAGGCC) c.960+16_960+17insCCTCCCGAGGCC (n.960+16_960+17insCCTCCCGAGGCC) | gnomAD v4 |
17 | g.41767364_41767366del | CA2637858958 | JUP | c.909+14_909+16del (n.909+14_909+16del) c.960+14_960+16del (n.960+14_960+16del) | gnomAD v4 |
17 | g.41767364T>G | CA983787935 | JUP | c.909+15A>C (n.909+15A>C) c.960+15A>C (n.960+15A>C) | gnomAD v3 gnomAD v4 |
17 | g.41767365T>C | CA626216160 | JUP | c.909+14A>G (n.909+14A>G) c.960+14A>G (n.960+14A>G) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.41767365T>G | CA2809501661 | JUP | c.909+14A>C (n.909+14A>C) c.960+14A>C (n.960+14A>C) | |
17 | g.41767365T= | CA2260175118 | JUP | c.909+14A= (n.909+14A=) c.960+14A= (n.960+14A=) | |
17 | g.41767366G>A | CA2637858960 | JUP | c.909+13C>T (n.909+13C>T) c.960+13C>T (n.960+13C>T) | gnomAD v4 |
17 | g.41767366G= | CA2260175119 | JUP | c.909+13C= (n.909+13C=) c.960+13C= (n.960+13C=) | |
17 | g.41767366G>T | CA772068380 | JUP | c.909+13C>A (n.909+13C>A) c.960+13C>A (n.960+13C>A) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.41767369del | CA2576268949 | JUP | c.909+13del (n.909+13del) c.960+13del (n.960+13del) | |
17 | g.41767367G>C | CA626216161 | JUP | c.909+12C>G (n.909+12C>G) c.960+12C>G (n.960+12C>G) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.41767367G= | CA2260175120 | JUP | c.909+12C= (n.909+12C=) c.960+12C= (n.960+12C=) | |
17 | g.41767367G>T | CA2637858961 | JUP | c.909+12C>A (n.909+12C>A) c.960+12C>A (n.960+12C>A) | gnomAD v4 |
17 | g.41767368G>T | CA2637858963 | JUP | c.909+11C>A (n.909+11C>A) c.960+11C>A (n.960+11C>A) | gnomAD v4 |
17 | g.41767369G>A | CA2499224320 | JUP | c.909+10C>T (n.909+10C>T) c.960+10C>T (n.960+10C>T) | ClinVar dbSNP |
17 | g.41767369G>T | CA2637858964 | JUP | c.909+10C>A (n.909+10C>A) c.960+10C>A (n.960+10C>A) | gnomAD v4 |
17 | g.41767371G>T | CA2637858965 | JUP | c.909+8C>A (n.909+8C>A) c.960+8C>A (n.960+8C>A) | gnomAD v4 |
17 | g.41767372G>A | CA2576268950 | JUP | c.909+7C>T (n.909+7C>T) c.960+7C>T (n.960+7C>T) | |
17 | g.41767373G>A | CA137250 | JUP | c.909+6C>T (n.909+6C>T) c.960+6C>T (n.960+6C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.41767373G= | CA2260175121 | JUP | c.909+6C= (n.909+6C=) c.960+6C= (n.960+6C=) | |
17 | g.41767373G>T | CA8565362 | JUP | c.909+6C>A (n.909+6C>A) c.960+6C>A (n.960+6C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.41767374C>A | CA2260175122 | JUP | c.909+5G>T (n.909+5G>T) c.960+5G>T (n.960+5G>T) | dbSNP |
17 | g.41767374C= | CA2260175123 | JUP | c.909+5G= (n.909+5G=) c.960+5G= (n.960+5G=) | |
17 | g.41767376del | CA2637858966 | JUP | c.909+5del (n.909+5del) c.960+5del (n.960+5del) | gnomAD v4 |
17 | g.41767375C>T | CA2637858967 | JUP | c.909+4G>A (n.909+4G>A) c.960+4G>A (n.960+4G>A) | gnomAD v4 |
17 | g.41767377A>C | CA399500392 | JUP | c.909+2T>G (n.909+2T>G) c.960+2T>G (n.960+2T>G) | |
17 | g.41767377A>G | CA399500383 | JUP | c.909+2T>C (n.909+2T>C) c.960+2T>C (n.960+2T>C) | |
17 | g.41767377A>T | CA399500385 | JUP | c.909+2T>A (n.909+2T>A) c.960+2T>A (n.960+2T>A) | |
17 | g.41767378C>A | CA399500396 | JUP | c.909+1G>T (n.909+1G>T) c.960+1G>T (n.960+1G>T) | |
17 | g.41767378C= | CA2260175124 | JUP | c.909+1G= (n.909+1G=) c.960+1G= (n.960+1G=) | |
17 | g.41767378C>G | CA290699978 | JUP | c.909+1G>C (n.909+1G>C) c.960+1G>C (n.960+1G>C) | dbSNP |
17 | g.41767378C>T | CA399500400 | JUP | c.909+1G>A (n.909+1G>A) c.960+1G>A (n.960+1G>A) | dbSNP gnomAD v2 |
17 | g.41767379del | CA2580613133 | JUP | c.909+1del c.960+1del | ClinVar |
17 | g.41767379C>A | CA399500403 | JUP | c.909G>T (p.Lys303Asn) c.960G>T (p.Lys320Asn) | |
17 | g.41767379C>G | CA399500406 | JUP | c.909G>C (p.Lys303Asn) c.960G>C (p.Lys320Asn) | |
17 | g.41767379C>T | CA500024389 | JUP | c.909G>A (p.Lys303=) c.960G>A (p.Lys320=) | gnomAD v4 |
17 | g.41767380T>A | CA399500414 | JUP | c.908A>T (p.Lys303Met) c.959A>T (p.Lys320Met) | |
17 | g.41767380T>C | CA399500417 | JUP | c.908A>G (p.Lys303Arg) c.959A>G (p.Lys320Arg) | |
17 | g.41767380T>G | CA399500424 | JUP | c.908A>C (p.Lys303Thr) c.959A>C (p.Lys320Thr) | COSMIC |
17 | g.41767381T>A | CA399500427 | JUP | c.907A>T (p.Lys303Ter) c.958A>T (p.Lys320Ter) | |
17 | g.41767381T>C | CA399500435 | JUP | c.907A>G (p.Lys303Glu) c.958A>G (p.Lys320Glu) | |
17 | g.41767381T>G | CA399500437 | JUP | c.907A>C (p.Lys303Gln) c.958A>C (p.Lys320Gln) | |
17 | g.41767382G>A | CA500024390 | JUP | c.906C>T (p.Ser302=) c.957C>T (p.Ser319=) | dbSNP gnomAD v2 |
17 | g.41767382G>C | CA399500438 | JUP | c.906C>G (p.Ser302Arg) c.957C>G (p.Ser319Arg) | |
17 | g.41767382G= | CA2260175125 | JUP | c.906C= (p.Ser302=) c.957C= (p.Ser319=) | |
17 | g.41767382G>T | CA399500439 | JUP | c.906C>A (p.Ser302Arg) c.957C>A (p.Ser319Arg) | gnomAD v4 |
17 | g.41767383C>A | CA399500441 | JUP | c.905G>T (p.Ser302Ile) c.956G>T (p.Ser319Ile) | |
17 | g.41767383C= | CA2260175126 | JUP | c.905G= (p.Ser302=) c.956G= (p.Ser319=) | |
17 | g.41767383C>G | CA399500444 | JUP | c.905G>C (p.Ser302Thr) c.956G>C (p.Ser319Thr) | |
17 | g.41767383C>T | CA8565363 | JUP | c.905G>A (p.Ser302Asn) c.956G>A (p.Ser319Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.41767384T>A | CA399500451 | JUP | c.904A>T (p.Ser302Cys) c.955A>T (p.Ser319Cys) | |
17 | g.41767384T>C | CA399500464 | JUP | c.904A>G (p.Ser302Gly) c.955A>G (p.Ser319Gly) | |
17 | g.41767384T>G | CA399500468 | JUP | c.904A>C (p.Ser302Arg) c.955A>C (p.Ser319Arg) | |
17 | g.41767385C>A | CA399500472 | JUP | c.903G>T (p.Glu301Asp) c.954G>T (p.Glu318Asp) | |
17 | g.41767385C>G | CA399500478 | JUP | c.903G>C (p.Glu301Asp) c.954G>C (p.Glu318Asp) | |
17 | g.41767385C>T | CA500024394 | JUP | c.903G>A (p.Glu301=) c.954G>A (p.Glu318=) | |
17 | g.41767387_41767389del | CA2695225893 | JUP | c.901_903del (p.Glu301del) c.952_954del (p.Glu318del) | |
17 | g.41767386T>A | CA399500481 | JUP | c.902A>T (p.Glu301Val) c.953A>T (p.Glu318Val) | |
17 | g.41767386T>C | CA353980 | JUP | c.902A>G (p.Glu301Gly) c.953A>G (p.Glu318Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.41767386T>G | CA399500484 | JUP | c.902A>C (p.Glu301Ala) c.953A>C (p.Glu318Ala) | |
17 | g.41767386T= | CA2260175127 | JUP | c.902A= (p.Glu301=) c.953A= (p.Glu318=) | |
17 | g.41767387C>A | CA399500491 | JUP | c.901G>T (p.Glu301Ter) c.952G>T (p.Glu318Ter) | |
17 | g.41767387C= | CA2260175128 | JUP | c.901G= (p.Glu301=) c.952G= (p.Glu318=) | |
17 | g.41767387C>G | CA8565364 | JUP | c.901G>C (p.Glu301Gln) c.952G>C (p.Glu318Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.41767387C>T | CA399500488 | JUP | c.901G>A (p.Glu301Lys) c.952G>A (p.Glu318Lys) | |
17 | g.41767388C>A | CA399500500 | JUP | c.900G>T (p.Gln300His) c.951G>T (p.Gln317His) | |
17 | g.41767388C>G | CA399500502 | JUP | c.900G>C (p.Gln300His) c.951G>C (p.Gln317His) | |
17 | g.41767388C>T | CA500024396 | JUP | c.900G>A (p.Gln300=) c.951G>A (p.Gln317=) | |
17 | g.41767389T>A | CA399500505 | JUP | c.899A>T (p.Gln300Leu) c.950A>T (p.Gln317Leu) | |
17 | g.41767389T>C | CA399500508 | JUP | c.899A>G (p.Gln300Arg) c.950A>G (p.Gln317Arg) | |
17 | g.41767389T>G | CA399500513 | JUP | c.899A>C (p.Gln300Pro) c.950A>C (p.Gln317Pro) | |
17 | g.41767390G>A | CA399500516 | JUP | c.898C>T (p.Gln300Ter) c.949C>T (p.Gln317Ter) | |
17 | g.41767390G>C | CA399500518 | JUP | c.898C>G (p.Gln300Glu) c.949C>G (p.Gln317Glu) | |
17 | g.41767390G>T | CA399500531 | JUP | c.898C>A (p.Gln300Lys) c.949C>A (p.Gln317Lys) | |
17 | g.41767391G>A | CA500024399 | JUP | c.897C>T (p.Asn299=) c.948C>T (p.Asn316=) | |
17 | g.41767391G>C | CA399500534 | JUP | c.897C>G (p.Asn299Lys) c.948C>G (p.Asn316Lys) | |
17 | g.41767391G>T | CA399500536 | JUP | c.897C>A (p.Asn299Lys) c.948C>A (p.Asn316Lys) | |
17 | g.41767392T>A | CA399500539 | JUP | c.896A>T (p.Asn299Ile) c.947A>T (p.Asn316Ile) | |
17 | g.41767392T>C | CA8565365 | JUP | c.896A>G (p.Asn299Ser) c.947A>G (p.Asn316Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.41767392T>G | CA399500544 | JUP | c.896A>C (p.Asn299Thr) c.947A>C (p.Asn316Thr) | |
17 | g.41767392T= | CA2260175129 | JUP | c.896A= (p.Asn299=) c.947A= (p.Asn316=) | |
17 | g.41767393T>A | CA399500552 | JUP | c.895A>T (p.Asn299Tyr) c.946A>T (p.Asn316Tyr) | |
17 | g.41767393T>C | CA399500550 | JUP | c.895A>G (p.Asn299Asp) c.946A>G (p.Asn316Asp) | |
17 | g.41767393T>G | CA399500547 | JUP | c.895A>C (p.Asn299His) c.946A>C (p.Asn316His) | |
17 | g.41767394G>A | CA500024400 | JUP | c.894C>T (p.Gly298=) c.945C>T (p.Gly315=) | |
17 | g.41767394G>C | CA500024402 | JUP | c.894C>G (p.Gly298=) c.945C>G (p.Gly315=) | |
17 | g.41767394G>T | CA500024401 | JUP | c.894C>A (p.Gly298=) c.945C>A (p.Gly315=) | COSMIC |
17 | g.41767395C>A | CA399500556 | JUP | c.893G>T (p.Gly298Val) c.893G>T c.944G>T (p.Gly315Val) | |
17 | g.41767395C>G | CA399500561 | JUP | c.893G>C (p.Gly298Ala) c.893G>C c.944G>C (p.Gly315Ala) | |
17 | g.41767395C>T | CA399500563 | JUP | c.893G>A (p.Gly298Asp) c.893G>A c.944G>A (p.Gly315Asp) | COSMIC |
17 | g.41767396C>A | CA399500567 | JUP | c.892G>T (p.Gly298Cys) c.892G>T c.943G>T (p.Gly315Cys) | |
17 | g.41767396C= | CA2260175130 | JUP | c.892G= (p.Gly298=) c.892G= c.943G= (p.Gly315=) | |
17 | g.41767396C>G | CA399500570 | JUP | c.892G>C (p.Gly298Arg) c.892G>C c.943G>C (p.Gly315Arg) | |
17 | g.41767396C>T | CA308501 | JUP | c.892G>A (p.Gly298Ser) c.892G>A c.943G>A (p.Gly315Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.41767397G>A | CA137245 | JUP | c.891C>T (p.Tyr297=) c.942C>T (p.Tyr314=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.41767397G>C | CA399500575 | JUP | c.891C>G (p.Tyr297Ter) c.942C>G (p.Tyr314Ter) | |
17 | g.41767397G= | CA2260175131 | JUP | c.891C= (p.Tyr297=) c.942C= (p.Tyr314=) | |
17 | g.41767397G>T | CA399500579 | JUP | c.891C>A (p.Tyr297Ter) c.942C>A (p.Tyr314Ter) | |
17 | g.41767398T>A | CA399500583 | JUP | c.890A>T (p.Tyr297Phe) c.941A>T (p.Tyr314Phe) | |
17 | g.41767398T>C | CA8565366 | JUP | c.890A>G (p.Tyr297Cys) c.941A>G (p.Tyr314Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.41767398T>G | CA399500589 | JUP | c.890A>C (p.Tyr297Ser) c.941A>C (p.Tyr314Ser) | |
17 | g.41767398T= | CA2260175132 | JUP | c.890A= (p.Tyr297=) c.941A= (p.Tyr314=) | |
17 | g.41767399A>C | CA399500611 | JUP | c.889T>G (p.Tyr297Asp) c.940T>G (p.Tyr314Asp) | |
17 | g.41767399A>G | CA399500596 | JUP | c.889T>C (p.Tyr297His) c.940T>C (p.Tyr314His) | |
17 | g.41767399A>T | CA399500594 | JUP | c.889T>A (p.Tyr297Asn) c.940T>A (p.Tyr314Asn) | |
17 | g.41767400G>A | CA8565367 | JUP | c.888C>T (p.Ala296=) c.939C>T (p.Ala313=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.41767400G>C | CA500024403 | JUP | c.888C>G (p.Ala296=) c.939C>G (p.Ala313=) | gnomAD v4 |
17 | g.41767400G= | CA2260175133 | JUP | c.888C= (p.Ala296=) c.939C= (p.Ala313=) | |
17 | g.41767400G>T | CA500024404 | JUP | c.888C>A (p.Ala296=) c.939C>A (p.Ala313=) | |
17 | g.41767401G>A | CA399500621 | JUP | c.887C>T (p.Ala296Val) c.887C>T c.938C>T (p.Ala313Val) | |
17 | g.41767401G>C | CA399500618 | JUP | c.887C>G (p.Ala296Gly) c.887C>G c.938C>G (p.Ala313Gly) | |
17 | g.41767401G>T | CA399500625 | JUP | c.887C>A (p.Ala296Asp) c.887C>A c.938C>A (p.Ala313Asp) | gnomAD v4 |
17 | g.41767402C>A | CA290700000 | JUP | c.886G>T (p.Ala296Ser) c.886G>T c.937G>T (p.Ala313Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.41767402C= | CA2260175134 | JUP | c.886G= (p.Ala296=) c.886G= c.937G= (p.Ala313=) | |
17 | g.41767402C>G | CA399500632 | JUP | c.886G>C (p.Ala296Pro) c.886G>C c.937G>C (p.Ala313Pro) | |
17 | g.41767402C>T | CA399500631 | JUP | c.886G>A (p.Ala296Thr) c.886G>A c.937G>A (p.Ala313Thr) | |
17 | g.41767403C>A | CA500024405 | JUP | c.885G>T (p.Leu295=) c.936G>T (p.Leu312=) | |
17 | g.41767403C>G | CA500024406 | JUP | c.885G>C (p.Leu295=) c.936G>C (p.Leu312=) | |
17 | g.41767403C>T | CA500024407 | JUP | c.885G>A (p.Leu295=) c.936G>A (p.Leu312=) | |
17 | g.41767404A= | CA2260175135 | JUP | c.884T= (p.Leu295=) c.935T= (p.Leu312=) | |
17 | g.41767404A>C | CA399500633 | JUP | c.884T>G (p.Leu295Arg) c.935T>G (p.Leu312Arg) | |
17 | g.41767404A>G | CA399500634 | JUP | c.884T>C (p.Leu295Pro) c.935T>C (p.Leu312Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.41767404A>T | CA399500635 | JUP | c.884T>A (p.Leu295Gln) c.935T>A (p.Leu312Gln) | |
17 | g.41767405G>A | CA500024408 | JUP | c.883C>T (p.Leu295=) c.934C>T (p.Leu312=) | |
17 | g.41767405G>C | CA399500636 | JUP | c.883C>G (p.Leu295Val) c.934C>G (p.Leu312Val) | |
17 | g.41767405G>T | CA399500638 | JUP | c.883C>A (p.Leu295Met) c.934C>A (p.Leu312Met) | |
17 | g.41767406G>A | CA500024409 | JUP | c.882C>T (p.Leu294=) c.933C>T (p.Leu311=) | gnomAD v4 |
17 | g.41767406G>C | CA500024411 | JUP | c.882C>G (p.Leu294=) c.933C>G (p.Leu311=) | dbSNP |
17 | g.41767406G>T | CA500024410 | JUP | c.882C>A (p.Leu294=) c.933C>A (p.Leu311=) | |
17 | g.41767407A>C | CA399500639 | JUP | c.881T>G (p.Leu294Arg) c.932T>G (p.Leu311Arg) | |
17 | g.41767407A>G | CA399500640 | JUP | c.881T>C (p.Leu294Pro) c.932T>C (p.Leu311Pro) | |
17 | g.41767407A>T | CA399500641 | JUP | c.881T>A (p.Leu294His) c.932T>A (p.Leu311His) |