Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.41769335_41769381dup | CA983789086 | JUP | c.468+39_468+85dup (n.468+39_468+85dup) c.519+39_519+85dup (n.519+39_519+85dup) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.41769357G>A | CA2637859994 | JUP | c.468+61C>T (n.468+61C>T) c.519+61C>T (n.519+61C>T) | dbSNP gnomAD v4 |
17 | g.41769357G>T | CA2576269016 | JUP | c.468+61C>A (n.468+61C>A) c.519+61C>A (n.519+61C>A) | gnomAD v4 |
17 | g.41769358A>G | CA2637859996 | JUP | c.468+60T>C (n.468+60T>C) c.519+60T>C (n.519+60T>C) | gnomAD v4 |
17 | g.41769359G>A | CA772070076 | JUP | c.468+59C>T (n.468+59C>T) c.519+59C>T (n.519+59C>T) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.41769359G= | CA2260176089 | JUP | c.468+59C= (n.468+59C=) c.519+59C= (n.519+59C=) | |
17 | g.41769359G>T | CA2637859997 | JUP | c.468+59C>A (n.468+59C>A) c.519+59C>A (n.519+59C>A) | gnomAD v4 |
17 | g.41769360G>A | CA290700718 | JUP | c.468+58C>T (n.468+58C>T) c.519+58C>T (n.519+58C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.41769360G= | CA2260176090 | JUP | c.468+58C= (n.468+58C=) c.519+58C= (n.519+58C=) | |
17 | g.41769360G>T | CA2637859998 | JUP | c.468+58C>A (n.468+58C>A) c.519+58C>A (n.519+58C>A) | gnomAD v4 |
17 | g.41769361A= | CA2260176091 | JUP | c.468+57T= (n.468+57T=) c.519+57T= (n.519+57T=) | |
17 | g.41769361A>C | CA772070080 | JUP | c.468+57T>G (n.468+57T>G) c.519+57T>G (n.519+57T>G) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.41769362C>A | CA2637860019 | JUP | c.468+56G>T (n.468+56G>T) c.519+56G>T (n.519+56G>T) | gnomAD v4 |
17 | g.41769363A= | CA2260176092 | JUP | c.468+55T= (n.468+55T=) c.519+55T= (n.519+55T=) | |
17 | g.41769363A>C | CA626215881 | JUP | c.468+55T>G (n.468+55T>G) c.519+55T>G (n.519+55T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.41769364T>G | CA2733740352 | JUP | c.468+54A>C (n.468+54A>C) c.519+54A>C (n.519+54A>C) | dbSNP |
17 | g.41769365C>A | CA2637860022 | JUP | c.468+53G>T (n.468+53G>T) c.519+53G>T (n.519+53G>T) | dbSNP gnomAD v4 |
17 | g.41769365C= | CA2260176093 | JUP | c.468+53G= (n.468+53G=) c.519+53G= (n.519+53G=) | |
17 | g.41769365C>T | CA290700721 | JUP | c.468+53G>A (n.468+53G>A) c.519+53G>A (n.519+53G>A) | dbSNP |
17 | g.41769366T>A | CA2637860026 | JUP | c.468+52A>T (n.468+52A>T) c.519+52A>T (n.519+52A>T) | gnomAD v4 |
17 | g.41769366T>C | CA2637860025 | JUP | c.468+52A>G (n.468+52A>G) c.519+52A>G (n.519+52A>G) | dbSNP gnomAD v4 |
17 | g.41769367G>A | CA2637860027 | JUP | c.468+51C>T (n.468+51C>T) c.519+51C>T (n.519+51C>T) | gnomAD v4 |
17 | g.41769367G>T | CA2637860028 | JUP | c.468+51C>A (n.468+51C>A) c.519+51C>A (n.519+51C>A) | gnomAD v4 |
17 | g.41769368C>A | CA290700724 | JUP | c.468+50G>T (n.468+50G>T) c.519+50G>T (n.519+50G>T) | dbSNP gnomAD v4 |
17 | g.41769368C= | CA2260176095 | JUP | c.468+50G= (n.468+50G=) c.519+50G= (n.519+50G=) | |
17 | g.41769368C>G | CA2733652398 | JUP | c.468+50G>C (n.468+50G>C) c.519+50G>C (n.519+50G>C) | dbSNP |
17 | g.41769368C>T | CA2260176096 | JUP | c.468+50G>A (n.468+50G>A) c.519+50G>A (n.519+50G>A) | dbSNP |
17 | g.41769368_41769371delinsCTCT | CA2260176094 | JUP | c.468+47_468+50delinsAGAG (n.468+47_468+50delinsAGAG) c.519+47_519+50delinsAGAG (n.519+47_519+50delinsAGAG) | |
17 | g.41769369_41769371del | CA8565480 | JUP | c.468+47_468+49del (n.468+47_468+49del) c.519+47_519+49del (n.519+47_519+49del) | dbSNP ExAC gnomAD v3 gnomAD v4 |
17 | g.41769370C>A | CA2637860032 | JUP | c.468+48G>T (n.468+48G>T) c.519+48G>T (n.519+48G>T) | gnomAD v4 |
17 | g.41769370C>T | CA2637860033 | JUP | c.468+48G>A (n.468+48G>A) c.519+48G>A (n.519+48G>A) | gnomAD v4 |
17 | g.41769370_41769372del | CA399504686 | JUP | c.468+46_468+48del (n.468+46_468+48del) c.519+46_519+48del (n.519+46_519+48del) | |
17 | g.41769372C>A | CA2637860034 | JUP | c.468+46G>T (n.468+46G>T) c.519+46G>T (n.519+46G>T) | gnomAD v4 |
17 | g.41769373T>C | CA2637860035 | JUP | c.468+45A>G (n.468+45A>G) c.519+45A>G (n.519+45A>G) | gnomAD v4 |
17 | g.41769374C>A | CA2637860037 | JUP | c.468+44G>T (n.468+44G>T) c.519+44G>T (n.519+44G>T) | gnomAD v4 |
17 | g.41769374C>T | CA2733740355 | JUP | c.468+44G>A (n.468+44G>A) c.519+44G>A (n.519+44G>A) | dbSNP |
17 | g.41769377del | CA2637860036 | JUP | c.468+44del (n.468+44del) c.519+44del (n.519+44del) | gnomAD v4 |
17 | g.41769375C= | CA2260176097 | JUP | c.468+43G= (n.468+43G=) c.519+43G= (n.519+43G=) | |
17 | g.41769375C>T | CA626215882 | JUP | c.468+43G>A (n.468+43G>A) c.519+43G>A (n.519+43G>A) | dbSNP gnomAD v2 |
17 | g.41769376C>A | CA2637860038 | JUP | c.468+42G>T (n.468+42G>T) c.519+42G>T (n.519+42G>T) | gnomAD v4 |
17 | g.41769376C= | CA2260176098 | JUP | c.468+42G= (n.468+42G=) c.519+42G= (n.519+42G=) | |
17 | g.41769376C>T | CA626215883 | JUP | c.468+42G>A (n.468+42G>A) c.519+42G>A (n.519+42G>A) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.41769377C>A | CA2637860043 | JUP | c.468+41G>T (n.468+41G>T) c.519+41G>T (n.519+41G>T) | gnomAD v4 |
17 | g.41769377C= | CA2260176099 | JUP | c.468+41G= (n.468+41G=) c.519+41G= (n.519+41G=) | |
17 | g.41769377C>G | CA8565481 | JUP | c.468+41G>C (n.468+41G>C) c.519+41G>C (n.519+41G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.41769377C>T | CA8565482 | JUP | c.468+41G>A (n.468+41G>A) c.519+41G>A (n.519+41G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.41769378T>C | CA2637860045 | JUP | c.468+40A>G (n.468+40A>G) c.519+40A>G (n.519+40A>G) | gnomAD v4 |
17 | g.41769379C>A | CA2637860047 | JUP | c.468+39G>T (n.468+39G>T) c.519+39G>T (n.519+39G>T) | gnomAD v4 |
17 | g.41769380C>A | CA2637860048 | JUP | c.468+38G>T (n.468+38G>T) c.519+38G>T (n.519+38G>T) | gnomAD v4 |
17 | g.41769380C= | CA2260176100 | JUP | c.468+38G= (n.468+38G=) c.519+38G= (n.519+38G=) | |
17 | g.41769380C>G | CA2733685435 | JUP | c.468+38G>C (n.468+38G>C) c.519+38G>C (n.519+38G>C) | dbSNP |
17 | g.41769380C>T | CA2260176101 | JUP | c.468+38G>A (n.468+38G>A) c.519+38G>A (n.519+38G>A) | dbSNP gnomAD v4 |
17 | g.41769381C>A | CA2637860050 | JUP | c.468+37G>T (n.468+37G>T) c.519+37G>T (n.519+37G>T) | gnomAD v4 |
17 | g.41769382T>A | CA2637860051 | JUP | c.468+36A>T (n.468+36A>T) c.519+36A>T (n.519+36A>T) | dbSNP gnomAD v4 |
17 | g.41769382T>C | CA290700744 | JUP | c.468+36A>G (n.468+36A>G) c.519+36A>G (n.519+36A>G) | dbSNP gnomAD v4 |
17 | g.41769382T>G | CA2733657706 | JUP | c.468+36A>C (n.468+36A>C) c.519+36A>C (n.519+36A>C) | dbSNP |
17 | g.41769382T= | CA2260176103 | JUP | c.468+36A= (n.468+36A=) c.519+36A= (n.519+36A=) | |
17 | g.41769382_41769386delinsTGCCC | CA2260176102 | JUP | c.468+32_468+36delinsGGGCA (n.468+32_468+36delinsGGGCA) c.519+32_519+36delinsGGGCA (n.519+32_519+36delinsGGGCA) | |
17 | g.41769383G>A | CA2637860055 | JUP | c.468+35C>T (n.468+35C>T) c.519+35C>T (n.519+35C>T) | gnomAD v4 |
17 | g.41769383G>T | CA2637860057 | JUP | c.468+35C>A (n.468+35C>A) c.519+35C>A (n.519+35C>A) | gnomAD v4 |
17 | g.41769383_41769386del | CA772070088 | JUP | c.468+32_468+35del (n.468+32_468+35del) c.519+32_519+35del (n.519+32_519+35del) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.41769384C>A | CA2637860062 | JUP | c.468+34G>T (n.468+34G>T) c.519+34G>T (n.519+34G>T) | gnomAD v4 |
17 | g.41769384C>T | CA2637860063 | JUP | c.468+34G>A (n.468+34G>A) c.519+34G>A (n.519+34G>A) | gnomAD v4 |
17 | g.41769386del | CA2637860060 | JUP | c.468+34del (n.468+34del) c.519+34del (n.519+34del) | gnomAD v4 |
17 | g.41769385C>A | CA2637860065 | JUP | c.468+33G>T (n.468+33G>T) c.519+33G>T (n.519+33G>T) | gnomAD v4 |
17 | g.41769385_41769386insTTTG | CA2545802817 | JUP | c.468+32_468+33insCAAA (n.468+32_468+33insCAAA) c.519+32_519+33insCAAA (n.519+32_519+33insCAAA) | |
17 | g.41769386C>A | CA8565483 | JUP | c.468+32G>T (n.468+32G>T) c.519+32G>T (n.519+32G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.41769386C= | CA2260176104 | JUP | c.468+32G= (n.468+32G=) c.519+32G= (n.519+32G=) | |
17 | g.41769386C>T | CA2637860067 | JUP | c.468+32G>A (n.468+32G>A) c.519+32G>A (n.519+32G>A) | gnomAD v4 |
17 | g.41769387A= | CA2260176105 | JUP | c.468+31T= (n.468+31T=) c.519+31T= (n.519+31T=) | |
17 | g.41769387A>G | CA2637860069 | JUP | c.468+31T>C (n.468+31T>C) c.519+31T>C (n.519+31T>C) | gnomAD v4 |
17 | g.41769387A>T | CA290700751 | JUP | c.468+31T>A (n.468+31T>A) c.519+31T>A (n.519+31T>A) | dbSNP |
17 | g.41769388G>A | CA2576269017 | JUP | c.468+30C>T (n.468+30C>T) c.519+30C>T (n.519+30C>T) | gnomAD v4 |
17 | g.41769388G>T | CA2637860070 | JUP | c.468+30C>A (n.468+30C>A) c.519+30C>A (n.519+30C>A) | gnomAD v4 |
17 | g.41769389C>A | CA2637860073 | JUP | c.468+29G>T (n.468+29G>T) c.519+29G>T (n.519+29G>T) | gnomAD v4 |
17 | g.41769389C= | CA2260176106 | JUP | c.468+29G= (n.468+29G=) c.519+29G= (n.519+29G=) | |
17 | g.41769389C>G | CA8565484 | JUP | c.468+29G>C (n.468+29G>C) c.519+29G>C (n.519+29G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.41769389C>T | CA2260176107 | JUP | c.468+29G>A (n.468+29G>A) c.519+29G>A (n.519+29G>A) | dbSNP gnomAD v4 |
17 | g.41769393del | CA2637860072 | JUP | c.468+29del (n.468+29del) c.519+29del (n.519+29del) | gnomAD v4 |
17 | g.41769390C= | CA2260176108 | JUP | c.468+28G= (n.468+28G=) c.519+28G= (n.519+28G=) | |
17 | g.41769390C>T | CA626215884 | JUP | c.468+28G>A (n.468+28G>A) c.519+28G>A (n.519+28G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.41769391C= | CA2260176109 | JUP | c.468+27G= (n.468+27G=) c.519+27G= (n.519+27G=) | |
17 | g.41769391C>G | CA2637860078 | JUP | c.468+27G>C (n.468+27G>C) c.519+27G>C (n.519+27G>C) | gnomAD v4 |
17 | g.41769391C>T | CA626215885 | JUP | c.468+27G>A (n.468+27G>A) c.519+27G>A (n.519+27G>A) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.41769392C>A | CA2637860081 | JUP | c.468+26G>T (n.468+26G>T) c.519+26G>T (n.519+26G>T) | gnomAD v4 |
17 | g.41769392C= | CA2260176110 | JUP | c.468+26G= (n.468+26G=) c.519+26G= (n.519+26G=) | |
17 | g.41769392C>G | CA8565485 | JUP | c.468+26G>C (n.468+26G>C) c.519+26G>C (n.519+26G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.41769392C>T | CA772070095 | JUP | c.468+26G>A (n.468+26G>A) c.519+26G>A (n.519+26G>A) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.41769393C>A | CA626215886 | JUP | c.468+25G>T (n.468+25G>T) c.519+25G>T (n.519+25G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.41769393C= | CA2260176111 | JUP | c.468+25G= (n.468+25G=) c.519+25G= (n.519+25G=) | |
17 | g.41769393C>G | CA8565486 | JUP | c.468+25G>C (n.468+25G>C) c.519+25G>C (n.519+25G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.41769393C>T | CA2637860086 | JUP | c.468+25G>A (n.468+25G>A) c.519+25G>A (n.519+25G>A) | gnomAD v4 |
17 | g.41769397del | CA2637860088 | JUP | c.468+23del (n.468+23del) c.519+23del (n.519+23del) | gnomAD v4 |
17 | g.41769396C>A | CA2576269018 | JUP | c.468+22G>T (n.468+22G>T) c.519+22G>T (n.519+22G>T) | gnomAD v4 |
17 | g.41769397C>T | CA2637860089 | JUP | c.468+21G>A (n.468+21G>A) c.519+21G>A (n.519+21G>A) | gnomAD v4 |
17 | g.41769398T>C | CA2637860091 | JUP | c.468+20A>G (n.468+20A>G) c.519+20A>G (n.519+20A>G) | gnomAD v4 |
17 | g.41769399A>C | CA2573153775 | JUP | c.468+19T>G (n.468+19T>G) c.519+19T>G (n.519+19T>G) | ClinVar dbSNP |
17 | g.41769399A>G | CA2637860094 | JUP | c.468+19T>C (n.468+19T>C) c.519+19T>C (n.519+19T>C) | gnomAD v4 |
17 | g.41769400G>A | CA626215887 | JUP | c.468+18C>T (n.468+18C>T) c.519+18C>T (n.519+18C>T) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.41769400G>C | CA983789105 | JUP | c.468+18C>G (n.468+18C>G) c.519+18C>G (n.519+18C>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.41769400G= | CA2260176112 | JUP | c.468+18C= (n.468+18C=) c.519+18C= (n.519+18C=) | |
17 | g.41769400G>T | CA2637860099 | JUP | c.468+18C>A (n.468+18C>A) c.519+18C>A (n.519+18C>A) | gnomAD v4 |
17 | g.41769401C>A | CA626215888 | JUP | c.468+17G>T (n.468+17G>T) c.519+17G>T (n.519+17G>T) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.41769401C= | CA2260176113 | JUP | c.468+17G= (n.468+17G=) c.519+17G= (n.519+17G=) | |
17 | g.41769402A= | CA2260176115 | JUP | c.468+16T= (n.468+16T=) c.519+16T= (n.519+16T=) | |
17 | g.41769402A>T | CA626215889 | JUP | c.468+16T>A (n.468+16T>A) c.519+16T>A (n.519+16T>A) | dbSNP gnomAD v2 |
17 | g.41769402_41769404delinsAGG | CA2260176114 | JUP | c.468+14_468+16delinsCCT (n.468+14_468+16delinsCCT) c.519+14_519+16delinsCCT (n.519+14_519+16delinsCCT) | |
17 | g.41769404_41769405del | CA772070097 | JUP | c.468+14_468+15del (n.468+14_468+15del) c.519+14_519+15del (n.519+14_519+15del) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.41769404G>A | CA2637860102 | JUP | c.468+14C>T (n.468+14C>T) c.519+14C>T (n.519+14C>T) | gnomAD v4 |
17 | g.41769404G= | CA2260176116 | JUP | c.468+14C= (n.468+14C=) c.519+14C= (n.519+14C=) | |
17 | g.41769404G>T | CA626215890 | JUP | c.468+14C>A (n.468+14C>A) c.519+14C>A (n.519+14C>A) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.41769405G>A | CA626215891 | JUP | c.468+13C>T (n.468+13C>T) c.519+13C>T (n.519+13C>T) | dbSNP gnomAD v2 |
17 | g.41769405G= | CA2260176117 | JUP | c.468+13C= (n.468+13C=) c.519+13C= (n.519+13C=) | |
17 | g.41769405G>T | CA2637860104 | JUP | c.468+13C>A (n.468+13C>A) c.519+13C>A (n.519+13C>A) | gnomAD v4 |
17 | g.41769407C>A | CA2637860105 | JUP | c.468+11G>T (n.468+11G>T) c.519+11G>T (n.519+11G>T) | gnomAD v4 |
17 | g.41769408C>A | CA2637860106 | JUP | c.468+10G>T (n.468+10G>T) c.519+10G>T (n.519+10G>T) | gnomAD v4 |
17 | g.41769408C>G | CA2637860107 | JUP | c.468+10G>C (n.468+10G>C) c.519+10G>C (n.519+10G>C) | gnomAD v4 |
17 | g.41769408C>T | CA2637860109 | JUP | c.468+10G>A (n.468+10G>A) c.519+10G>A (n.519+10G>A) | gnomAD v4 |
17 | g.41769409C>A | CA2637860114 | JUP | c.468+9G>T (n.468+9G>T) c.519+9G>T (n.519+9G>T) | gnomAD v4 |
17 | g.41769409C= | CA2260176118 | JUP | c.468+9G= (n.468+9G=) c.519+9G= (n.519+9G=) | |
17 | g.41769409C>G | CA626215892 | JUP | c.468+9G>C (n.468+9G>C) c.519+9G>C (n.519+9G>C) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.41769409C>T | CA290700763 | JUP | c.468+9G>A (n.468+9G>A) c.519+9G>A (n.519+9G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.41769410T>A | CA2637860117 | JUP | c.468+8A>T (n.468+8A>T) c.519+8A>T (n.519+8A>T) | gnomAD v4 |
17 | g.41769410T>C | CA2740090944 | JUP | c.468+8A>G (n.468+8A>G) c.519+8A>G (n.519+8A>G) | ClinVar |
17 | g.41769410T>G | CA626215893 | JUP | c.468+8A>C (n.468+8A>C) c.519+8A>C (n.519+8A>C) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.41769410T= | CA2260176119 | JUP | c.468+8A= (n.468+8A=) c.519+8A= (n.519+8A=) | |
17 | g.41769411C= | CA2260176120 | JUP | c.468+7G= (n.468+7G=) c.519+7G= (n.519+7G=) | |
17 | g.41769411C>T | CA2260176121 | JUP | c.468+7G>A (n.468+7G>A) c.519+7G>A (n.519+7G>A) | ClinVar dbSNP gnomAD v4 |
17 | g.41769413C= | CA2260176122 | JUP | c.468+5G= (n.468+5G=) c.519+5G= (n.519+5G=) | |
17 | g.41769413C>T | CA626215894 | JUP | c.468+5G>A (n.468+5G>A) c.519+5G>A (n.519+5G>A) | dbSNP gnomAD v2 |
17 | g.41769414A= | CA2260176123 | JUP | c.468+4T= (n.468+4T=) c.519+4T= (n.519+4T=) | |
17 | g.41769414A>G | CA8565487 | JUP | c.468+4T>C (n.468+4T>C) c.519+4T>C (n.519+4T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.41769415G>A | CA626215895 | JUP | c.468+3C>T (n.468+3C>T) c.519+3C>T (n.519+3C>T) | dbSNP gnomAD v2 |
17 | g.41769415G= | CA2260176124 | JUP | c.468+3C= (n.468+3C=) c.519+3C= (n.519+3C=) | |
17 | g.41769415G>T | CA8565488 | JUP | c.468+3C>A (n.468+3C>A) c.519+3C>A (n.519+3C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.41769416A>C | CA399504708 | JUP | c.468+2T>G (n.468+2T>G) c.519+2T>G (n.519+2T>G) | |
17 | g.41769416A>G | CA399504711 | JUP | c.468+2T>C (n.468+2T>C) c.519+2T>C (n.519+2T>C) | |
17 | g.41769416A>T | CA399504714 | JUP | c.468+2T>A (n.468+2T>A) c.519+2T>A (n.519+2T>A) | |
17 | g.41769417C>A | CA399504715 | JUP | c.468+1G>T (n.468+1G>T) c.519+1G>T (n.519+1G>T) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.41769417C= | CA2260176125 | JUP | c.468+1G= (n.468+1G=) c.519+1G= (n.519+1G=) | |
17 | g.41769417C>G | CA399504716 | JUP | c.468+1G>C (n.468+1G>C) c.519+1G>C (n.519+1G>C) | |
17 | g.41769417C>T | CA399504719 | JUP | c.468+1G>A (n.468+1G>A) c.519+1G>A (n.519+1G>A) | |
17 | g.41769418C>A | CA500207561 | JUP | c.468G>T (p.Pro156=) c.519G>T (p.Pro173=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.41769418C= | CA2260176126 | JUP | c.468G= (p.Pro156=) c.519G= (p.Pro173=) | |
17 | g.41769418C>G | CA500207560 | JUP | c.468G>C (p.Pro156=) c.519G>C (p.Pro173=) | |
17 | g.41769418C>T | CA10575789 | JUP | c.468G>A (p.Pro156=) c.519G>A (p.Pro173=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.41769419G>A | CA8565489 | JUP | c.467C>T (p.Pro156Leu) c.518C>T (p.Pro173Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.41769419G>C | CA399504725 | JUP | c.467C>G (p.Pro156Arg) c.518C>G (p.Pro173Arg) | |
17 | g.41769419G= | CA2260176127 | JUP | c.467C= (p.Pro156=) c.518C= (p.Pro173=) | |
17 | g.41769419G>T | CA399504731 | JUP | c.467C>A (p.Pro156Gln) c.518C>A (p.Pro173Gln) | gnomAD v4 |
17 | g.41769420_41769421del | CA2695225896 | JUP | c.466_467del (p.Pro156GlyfsTer?) c.517_518del (p.Pro173GlyfsTer?) | |
17 | g.41769420G>A | CA399504736 | JUP | c.466C>T (p.Pro156Ser) c.517C>T (p.Pro173Ser) | |
17 | g.41769420G>C | CA290700780 | JUP | c.466C>G (p.Pro156Ala) c.517C>G (p.Pro173Ala) | dbSNP gnomAD v4 |
17 | g.41769420G= | CA2260176128 | JUP | c.466C= (p.Pro156=) c.517C= (p.Pro173=) | |
17 | g.41769420G>T | CA399504733 | JUP | c.466C>A (p.Pro156Thr) c.517C>A (p.Pro173Thr) | gnomAD v4 |
17 | g.41769421G>A | CA500207563 | JUP | c.465C>T (p.Asp155=) c.516C>T (p.Asp172=) | |
17 | g.41769421G>C | CA399504738 | JUP | c.465C>G (p.Asp155Glu) c.516C>G (p.Asp172Glu) | dbSNP |
17 | g.41769421G= | CA2260176129 | JUP | c.465C= (p.Asp155=) c.516C= (p.Asp172=) | |
17 | g.41769421G>T | CA399504740 | JUP | c.465C>A (p.Asp155Glu) c.516C>A (p.Asp172Glu) | gnomAD v4 |
17 | g.41769422T>A | CA399504742 | JUP | c.464A>T (p.Asp155Val) c.515A>T (p.Asp172Val) | |
17 | g.41769422T>C | CA399504745 | JUP | c.464A>G (p.Asp155Gly) c.515A>G (p.Asp172Gly) | |
17 | g.41769422T>G | CA399504746 | JUP | c.464A>C (p.Asp155Ala) c.515A>C (p.Asp172Ala) | |
17 | g.41769423C>A | CA399504749 | JUP | c.463G>T (p.Asp155Tyr) c.514G>T (p.Asp172Tyr) | gnomAD v4 |
17 | g.41769423C= | CA2260176130 | JUP | c.463G= (p.Asp155=) c.514G= (p.Asp172=) | |
17 | g.41769423C>G | CA399504752 | JUP | c.463G>C (p.Asp155His) c.514G>C (p.Asp172His) | |
17 | g.41769423C>T | CA399504760 | JUP | c.463G>A (p.Asp155Asn) c.514G>A (p.Asp172Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.41769424C>A | CA399504763 | JUP | c.462G>T (p.Glu154Asp) c.513G>T (p.Glu171Asp) | gnomAD v4 |
17 | g.41769424C= | CA2260176131 | JUP | c.462G= (p.Glu154=) c.513G= (p.Glu171=) | |
17 | g.41769424C>G | CA399504764 | JUP | c.462G>C (p.Glu154Asp) c.513G>C (p.Glu171Asp) | dbSNP gnomAD v2 |
17 | g.41769424C>T | CA500207566 | JUP | c.462G>A (p.Glu154=) c.513G>A (p.Glu171=) | ClinVar dbSNP gnomAD v4 |
17 | g.41769425T>A | CA399504767 | JUP | c.461A>T (p.Glu154Val) c.512A>T (p.Glu171Val) | |
17 | g.41769425T>C | CA399504770 | JUP | c.461A>G (p.Glu154Gly) c.512A>G (p.Glu171Gly) | |
17 | g.41769425T>G | CA399504772 | JUP | c.461A>C (p.Glu154Ala) c.512A>C (p.Glu171Ala) | |
17 | g.41769426C>A | CA399504777 | JUP | c.460G>T (p.Glu154Ter) c.511G>T (p.Glu171Ter) | |
17 | g.41769426C= | CA2260176132 | JUP | c.460G= (p.Glu154=) c.511G= (p.Glu171=) | |
17 | g.41769426C>G | CA399504775 | JUP | c.460G>C (p.Glu154Gln) c.511G>C (p.Glu171Gln) | gnomAD v4 |
17 | g.41769426C>T | CA8565490 | JUP | c.460G>A (p.Glu154Lys) c.511G>A (p.Glu171Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.41769427G>A | CA8565491 | JUP | c.459C>T (p.Asp153=) c.510C>T (p.Asp170=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.41769427G>C | CA399504784 | JUP | c.459C>G (p.Asp153Glu) c.510C>G (p.Asp170Glu) | gnomAD v4 |
17 | g.41769427G= | CA2260176133 | JUP | c.459C= (p.Asp153=) c.510C= (p.Asp170=) | |
17 | g.41769427G>T | CA8565492 | JUP | c.459C>A (p.Asp153Glu) c.510C>A (p.Asp170Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.41769428T>A | CA399504788 | JUP | c.458A>T (p.Asp153Val) c.509A>T (p.Asp170Val) | |
17 | g.41769428T>C | CA399504790 | JUP | c.458A>G (p.Asp153Gly) c.509A>G (p.Asp170Gly) | |
17 | g.41769428T>G | CA399504793 | JUP | c.458A>C (p.Asp153Ala) c.509A>C (p.Asp170Ala) | |
17 | g.41769429C>A | CA399504798 | JUP | c.457G>T (p.Asp153Tyr) c.508G>T (p.Asp170Tyr) | gnomAD v4 |
17 | g.41769429C= | CA2260176134 | JUP | c.457G= (p.Asp153=) c.508G= (p.Asp170=) | |
17 | g.41769429C>G | CA399504800 | JUP | c.457G>C (p.Asp153His) c.508G>C (p.Asp170His) | dbSNP |
17 | g.41769429C>T | CA8565493 | JUP | c.457G>A (p.Asp153Asn) c.508G>A (p.Asp170Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.41769430G>A | CA8565495 | JUP | c.456C>T (p.Asn152=) c.507C>T (p.Asn169=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.41769430G>C | CA8565494 | JUP | c.456C>G (p.Asn152Lys) c.507C>G (p.Asn169Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.41769430G= | CA2260176135 | JUP | c.456C= (p.Asn152=) c.507C= (p.Asn169=) | |
17 | g.41769430G>T | CA399504805 | JUP | c.456C>A (p.Asn152Lys) c.507C>A (p.Asn169Lys) | |
17 | g.41769431T>A | CA399504810 | JUP | c.455A>T (p.Asn152Ile) c.506A>T (p.Asn169Ile) | |
17 | g.41769431T>C | CA399504811 | JUP | c.455A>G (p.Asn152Ser) c.506A>G (p.Asn169Ser) | ClinVar dbSNP |
17 | g.41769431T>G | CA399504808 | JUP | c.455A>C (p.Asn152Thr) c.506A>C (p.Asn169Thr) | gnomAD v4 |
17 | g.41769431T= | CA2260176136 | JUP | c.455A= (p.Asn152=) c.506A= (p.Asn169=) | |
17 | g.41769432T>A | CA399504819 | JUP | c.454A>T (p.Asn152Tyr) c.505A>T (p.Asn169Tyr) | |
17 | g.41769432T>C | CA399504813 | JUP | c.454A>G (p.Asn152Asp) c.505A>G (p.Asn169Asp) | |
17 | g.41769432T>G | CA399504817 | JUP | c.454A>C (p.Asn152His) c.505A>C (p.Asn169His) | |
17 | g.41769433G>A | CA500207575 | JUP | c.453C>T (p.Leu151=) c.504C>T (p.Leu168=) | dbSNP gnomAD v2 |
17 | g.41769433G>C | CA290700800 | JUP | c.453C>G (p.Leu151=) c.504C>G (p.Leu168=) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
17 | g.41769433G= | CA2260176137 | JUP | c.453C= (p.Leu151=) c.504C= (p.Leu168=) | |
17 | g.41769433G>T | CA500207576 | JUP | c.453C>A (p.Leu151=) c.504C>A (p.Leu168=) | gnomAD v4 |
17 | g.41769434A>C | CA399504821 | JUP | c.452T>G (p.Leu151Arg) c.503T>G (p.Leu168Arg) | |
17 | g.41769434A>G | CA399504823 | JUP | c.452T>C (p.Leu151Pro) c.503T>C (p.Leu168Pro) | |
17 | g.41769434A>T | CA399504826 | JUP | c.452T>A (p.Leu151His) c.503T>A (p.Leu168His) | |
17 | g.41769435G>A | CA399504828 | JUP | c.451C>T (p.Leu151Phe) c.502C>T (p.Leu168Phe) | |
17 | g.41769435G>C | CA399504831 | JUP | c.451C>G (p.Leu151Val) c.502C>G (p.Leu168Val) | |
17 | g.41769435G>T | CA399504834 | JUP | c.451C>A (p.Leu151Ile) c.502C>A (p.Leu168Ile) | |
17 | g.41769435_41769436delinsTG | CA2573153776 | JUP | c.450_451delinsCA (p.Leu151Ile) c.501_502delinsCA (p.Leu168Ile) | ClinVar dbSNP |
17 | g.41769436C>A | CA500207580 | JUP | c.450G>T (p.Leu150=) c.501G>T (p.Leu167=) | gnomAD v4 |
17 | g.41769436C= | CA2260176138 | JUP | c.450G= (p.Leu150=) c.501G= (p.Leu167=) | |
17 | g.41769436C>G | CA500207581 | JUP | c.450G>C (p.Leu150=) c.501G>C (p.Leu167=) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.41769436C>T | CA500207582 | JUP | c.450G>A (p.Leu150=) c.501G>A (p.Leu167=) | |
17 | g.41769437A>C | CA399504837 | JUP | c.449T>G (p.Leu150Arg) c.500T>G (p.Leu167Arg) | |
17 | g.41769437A>G | CA399504840 | JUP | c.449T>C (p.Leu150Pro) c.500T>C (p.Leu167Pro) | |
17 | g.41769437A>T | CA399504842 | JUP | c.449T>A (p.Leu150Gln) c.500T>A (p.Leu167Gln) | |
17 | g.41769438G>A | CA500207583 | JUP | c.448C>T (p.Leu150=) c.499C>T (p.Leu167=) | |
17 | g.41769438G>C | CA399504843 | JUP | c.448C>G (p.Leu150Val) c.499C>G (p.Leu167Val) | |
17 | g.41769438G>T | CA399504844 | JUP | c.448C>A (p.Leu150Met) c.499C>A (p.Leu167Met) | |
17 | g.41769439T>A | CA399504848 | JUP | c.447A>T (p.Lys149Asn) c.498A>T (p.Lys166Asn) | |
17 | g.41769439T>C | CA290700810 | JUP | c.447A>G (p.Lys149=) c.498A>G (p.Lys166=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.41769439T>G | CA399504847 | JUP | c.447A>C (p.Lys149Asn) c.498A>C (p.Lys166Asn) | |
17 | g.41769439T= | CA2260176139 | JUP | c.447A= (p.Lys149=) c.498A= (p.Lys166=) | |
17 | g.41769440T>A | CA399504853 | JUP | c.446A>T (p.Lys149Ile) c.497A>T (p.Lys166Ile) | |
17 | g.41769440T>C | CA399504856 | JUP | c.446A>G (p.Lys149Arg) c.497A>G (p.Lys166Arg) | |
17 | g.41769440T>G | CA399504858 | JUP | c.446A>C (p.Lys149Thr) c.497A>C (p.Lys166Thr) | |
17 | g.41769441T>A | CA399504861 | JUP | c.445A>T (p.Lys149Ter) c.496A>T (p.Lys166Ter) | |
17 | g.41769441T>C | CA399504862 | JUP | c.445A>G (p.Lys149Glu) c.496A>G (p.Lys166Glu) | |
17 | g.41769441T>G | CA399504867 | JUP | c.445A>C (p.Lys149Gln) c.496A>C (p.Lys166Gln) | |
17 | g.41769442G>A | CA500207587 | JUP | c.444C>T (p.Thr148=) c.495C>T (p.Thr165=) | |
17 | g.41769442G>C | CA500207585 | JUP | c.444C>G (p.Thr148=) c.495C>G (p.Thr165=) | gnomAD v4 |
17 | g.41769442G>T | CA500207586 | JUP | c.444C>A (p.Thr148=) c.495C>A (p.Thr165=) | gnomAD v4 |
17 | g.41769443G>A | CA399504868 | JUP | c.443C>T (p.Thr148Ile) c.494C>T (p.Thr165Ile) | |
17 | g.41769443G>C | CA399504869 | JUP | c.443C>G (p.Thr148Ser) c.494C>G (p.Thr165Ser) | |
17 | g.41769443G= | CA2260176140 | JUP | c.443C= (p.Thr148=) c.494C= (p.Thr165=) | |
17 | g.41769443G>T | CA399504872 | JUP | c.443C>A (p.Thr148Asn) c.494C>A (p.Thr165Asn) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.41769444T>A | CA399504874 | JUP | c.442A>T (p.Thr148Ser) c.493A>T (p.Thr165Ser) | |
17 | g.41769444T>C | CA399504875 | JUP | c.442A>G (p.Thr148Ala) c.493A>G (p.Thr165Ala) | |
17 | g.41769444T>G | CA399504877 | JUP | c.442A>C (p.Thr148Pro) c.493A>C (p.Thr165Pro) | |
17 | g.41769445G>A | CA500207590 | JUP | c.441C>T (p.Leu147=) c.492C>T (p.Leu164=) | |
17 | g.41769445G>C | CA500207591 | JUP | c.441C>G (p.Leu147=) c.492C>G (p.Leu164=) | |
17 | g.41769445G>T | CA500207593 | JUP | c.441C>A (p.Leu147=) c.492C>A (p.Leu164=) | gnomAD v4 |
17 | g.41769446A>C | CA399504885 | JUP | c.440T>G (p.Leu147Arg) c.491T>G (p.Leu164Arg) | |
17 | g.41769446A>G | CA399504883 | JUP | c.440T>C (p.Leu147Pro) c.491T>C (p.Leu164Pro) | |
17 | g.41769446A>T | CA399504881 | JUP | c.440T>A (p.Leu147His) c.491T>A (p.Leu164His) | |
17 | g.41769447G>A | CA399504890 | JUP | c.439C>T (p.Leu147Phe) c.490C>T (p.Leu164Phe) | gnomAD v4 |
17 | g.41769447G>C | CA399504889 | JUP | c.439C>G (p.Leu147Val) c.490C>G (p.Leu164Val) | |
17 | g.41769447G>T | CA399504891 | JUP | c.439C>A (p.Leu147Ile) c.490C>A (p.Leu164Ile) | |
17 | g.41769448C>A | CA399504892 | JUP | c.438G>T (p.Glu146Asp) c.489G>T (p.Glu163Asp) | |
17 | g.41769448C= | CA2260176141 | JUP | c.438G= (p.Glu146=) c.489G= (p.Glu163=) | |
17 | g.41769448C>G | CA399504893 | JUP | c.438G>C (p.Glu146Asp) c.489G>C (p.Glu163Asp) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.41769448C>T | CA500207595 | JUP | c.438G>A (p.Glu146=) c.489G>A (p.Glu163=) | |
17 | g.41769449T>A | CA399504894 | JUP | c.437A>T (p.Glu146Val) c.488A>T (p.Glu163Val) | |
17 | g.41769449T>C | CA399504896 | JUP | c.437A>G (p.Glu146Gly) c.488A>G (p.Glu163Gly) | |
17 | g.41769449T>G | CA399504898 | JUP | c.437A>C (p.Glu146Ala) c.488A>C (p.Glu163Ala) | gnomAD v4 |
17 | g.41769450C>A | CA399504899 | JUP | c.436G>T (p.Glu146Ter) c.487G>T (p.Glu163Ter) | ClinVar dbSNP |
17 | g.41769450C= | CA2260176142 | JUP | c.436G= (p.Glu146=) c.487G= (p.Glu163=) | |
17 | g.41769450C>G | CA399504901 | JUP | c.436G>C (p.Glu146Gln) c.487G>C (p.Glu163Gln) | |
17 | g.41769450C>T | CA8565496 | JUP | c.436G>A (p.Glu146Lys) c.487G>A (p.Glu163Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.41769451G>A | CA8565497 | JUP | c.435C>T (p.Pro145=) c.486C>T (p.Pro162=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.41769451G>C | CA500207597 | JUP | c.435C>G (p.Pro145=) c.486C>G (p.Pro162=) | dbSNP gnomAD v4 |
17 | g.41769451G= | CA2260176143 | JUP | c.435C= (p.Pro145=) c.486C= (p.Pro162=) | |
17 | g.41769451G>T | CA500207598 | JUP | c.435C>A (p.Pro145=) c.486C>A (p.Pro162=) | |
17 | g.41769452G>A | CA399504903 | JUP | c.434C>T (p.Pro145Leu) c.485C>T (p.Pro162Leu) | |
17 | g.41769452G>C | CA399504904 | JUP | c.434C>G (p.Pro145Arg) c.485C>G (p.Pro162Arg) | gnomAD v4 |
17 | g.41769452G>T | CA399504906 | JUP | c.434C>A (p.Pro145His) c.485C>A (p.Pro162His) | gnomAD v4 |
17 | g.41769453G>A | CA8565498 | JUP | c.433C>T (p.Pro145Ser) c.484C>T (p.Pro162Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.41769453G>C | CA399504912 | JUP | c.433C>G (p.Pro145Ala) c.484C>G (p.Pro162Ala) | |
17 | g.41769453G= | CA2260176144 | JUP | c.433C= (p.Pro145=) c.484C= (p.Pro162=) | |
17 | g.41769453G>T | CA399504909 | JUP | c.433C>A (p.Pro145Thr) c.484C>A (p.Pro162Thr) | |
17 | g.41769454C>A | CA500207603 | JUP | c.432G>T (p.Leu144=) c.483G>T (p.Leu161=) | |
17 | g.41769454C= | CA2260176145 | JUP | c.432G= (p.Leu144=) c.483G= (p.Leu161=) | |
17 | g.41769454C>G | CA500207601 | JUP | c.432G>C (p.Leu144=) c.483G>C (p.Leu161=) | |
17 | g.41769454C>T | CA500207602 | JUP | c.432G>A (p.Leu144=) c.483G>A (p.Leu161=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.41769455A>C | CA399504914 | JUP | c.431T>G (p.Leu144Arg) c.482T>G (p.Leu161Arg) | |
17 | g.41769455A>G | CA399504915 | JUP | c.431T>C (p.Leu144Pro) c.482T>C (p.Leu161Pro) | |
17 | g.41769455A>T | CA399504917 | JUP | c.431T>A (p.Leu144Gln) c.482T>A (p.Leu161Gln) | |
17 | g.41769456G>A | CA500207607 | JUP | c.430C>T (p.Leu144=) c.481C>T (p.Leu161=) | |
17 | g.41769456G>C | CA399504919 | JUP | c.430C>G (p.Leu144Val) c.481C>G (p.Leu161Val) | |
17 | g.41769456G>T | CA399504921 | JUP | c.430C>A (p.Leu144Met) c.481C>A (p.Leu161Met) | |
17 | g.41769457G>A | CA8565499 | JUP | c.429C>T (p.Ala143=) c.480C>T (p.Ala160=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.41769457G>C | CA500207608 | JUP | c.429C>G (p.Ala143=) c.480C>G (p.Ala160=) | |
17 | g.41769457G= | CA2260176146 | JUP | c.429C= (p.Ala143=) c.480C= (p.Ala160=) | |
17 | g.41769457G>T | CA500207609 | JUP | c.429C>A (p.Ala143=) c.480C>A (p.Ala160=) | gnomAD v4 |