Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.127823973_127830053del | CA1139661202 | ENG | c.-327-226_588+331del c.220-226_1134+331del | ClinVar |
9 | g.127823973_127830815del | CA1139661203 | ENG | c.-327-988_588+331del c.220-988_1134+331del | ClinVar |
9 | g.127824679_127826283del | CA1139661205 | ENG | c.-24+229_445+123del c.523+229_991+123del | ClinVar |
9 | g.127824681_127830056del | CA1139661206 | ENG | c.-327-225_445+123del c.220-225_991+123del | ClinVar |
9 | g.127825148G>A | CA590939279 | ENG | c.270+83C>T (n.270+83C>T) c.816+83C>T (n.816+83C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127825148G= | CA1879974109 | ENG | c.270+83C= (n.270+83C=) c.816+83C= (n.816+83C=) | |
9 | g.127825148G>T | CA2839015788 | ENG | c.270+83C>A (n.270+83C>A) c.816+83C>A (n.816+83C>A) | |
9 | g.127825152dup | CA2691809053 | ENG | c.270+83dup (n.270+83dup) c.816+83dup (n.816+83dup) | gnomAD v4 |
9 | g.127825152del | CA2691809052 | ENG | c.270+83del (n.270+83del) c.816+83del (n.816+83del) | gnomAD v4 |
9 | g.127825149G>T | CA2838201081 | ENG | c.270+82C>A (n.270+82C>A) c.816+82C>A (n.816+82C>A) | |
9 | g.127825150G>A | CA590939280 | ENG | c.270+81C>T (n.270+81C>T) c.816+81C>T (n.816+81C>T) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.127825150G= | CA1879974110 | ENG | c.270+81C= (n.270+81C=) c.816+81C= (n.816+81C=) | |
9 | g.127825151G>T | CA2579461304 | ENG | c.270+80C>A (n.270+80C>A) c.816+80C>A (n.816+80C>A) | |
9 | g.127825152G= | CA1879974112 | ENG | c.270+79C= (n.270+79C=) c.816+79C= (n.816+79C=) | |
9 | g.127825152G>T | CA200313328 | ENG | c.270+79C>A (n.270+79C>A) c.816+79C>A (n.816+79C>A) | dbSNP gnomAD v4 |
9 | g.127825153T>G | CA2691809054 | ENG | c.270+78A>C (n.270+78A>C) c.816+78A>C (n.816+78A>C) | gnomAD v4 |
9 | g.127825154dup | CA2840996426 | ENG | c.270+78dup (n.270+78dup) c.816+78dup (n.816+78dup) | |
9 | g.127825156_127825157del | CA2839015806 | ENG | c.270+75_270+76del (n.270+75_270+76del) c.816+75_816+76del (n.816+75_816+76del) | |
9 | g.127825156A= | CA1879974115 | ENG | c.270+75T= (n.270+75T=) c.816+75T= (n.816+75T=) | |
9 | g.127825156A>C | CA590939281 | ENG | c.270+75T>G (n.270+75T>G) c.816+75T>G (n.816+75T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127825158C= | CA1879974117 | ENG | c.270+73G= (n.270+73G=) c.816+73G= (n.816+73G=) | |
9 | g.127825158C>T | CA1879974118 | ENG | c.270+73G>A (n.270+73G>A) c.816+73G>A (n.816+73G>A) | dbSNP |
9 | g.127825158_127825160delinsCTT | CA1879974120 | ENG | c.270+71_270+73delinsAAG (n.270+71_270+73delinsAAG) c.816+71_816+73delinsAAG (n.816+71_816+73delinsAAG) | |
9 | g.127825159T>C | CA2691809055 | ENG | c.270+72A>G (n.270+72A>G) c.816+72A>G (n.816+72A>G) | gnomAD v4 |
9 | g.127825160_127825161del | CA1879974122 | ENG | c.270+71_270+72del (n.270+71_270+72del) c.816+71_816+72del (n.816+71_816+72del) | dbSNP |
9 | g.127825160T>G | CA1129279754 | ENG | c.270+71A>C (n.270+71A>C) c.816+71A>C (n.816+71A>C) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.127825160T= | CA1879974124 | ENG | c.270+71A= (n.270+71A=) c.816+71A= (n.816+71A=) | |
9 | g.127825161T>A | CA2691809056 | ENG | c.270+70A>T (n.270+70A>T) c.816+70A>T (n.816+70A>T) | gnomAD v4 |
9 | g.127825161T>C | CA200313332 | ENG | c.270+70A>G (n.270+70A>G) c.816+70A>G (n.816+70A>G) | dbSNP gnomAD v4 |
9 | g.127825161T= | CA1879974126 | ENG | c.270+70A= (n.270+70A=) c.816+70A= (n.816+70A=) | |
9 | g.127825162C= | CA1879974129 | ENG | c.270+69G= (n.270+69G=) c.816+69G= (n.816+69G=) | |
9 | g.127825162C>T | CA860197218 | ENG | c.270+69G>A (n.270+69G>A) c.816+69G>A (n.816+69G>A) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.127825165G>A | CA2691809057 | ENG | c.270+66C>T (n.270+66C>T) c.816+66C>T (n.816+66C>T) | gnomAD v4 |
9 | g.127825166G>A | CA1879974132 | ENG | c.270+65C>T (n.270+65C>T) c.816+65C>T (n.816+65C>T) | dbSNP |
9 | g.127825166G= | CA1879974131 | ENG | c.270+65C= (n.270+65C=) c.816+65C= (n.816+65C=) | |
9 | g.127825166G>T | CA2840996427 | ENG | c.270+65C>A (n.270+65C>A) c.816+65C>A (n.816+65C>A) | |
9 | g.127825167A>G | CA2579461305 | ENG | c.270+64T>C (n.270+64T>C) c.816+64T>C (n.816+64T>C) | gnomAD v4 |
9 | g.127825168A>C | CA2785996488 | ENG | c.270+63T>G (n.270+63T>G) c.816+63T>G (n.816+63T>G) | |
9 | g.127825169A>G | CA2579461306 | ENG | c.270+62T>C (n.270+62T>C) c.816+62T>C (n.816+62T>C) | |
9 | g.127825170C= | CA1879974133 | ENG | c.270+61G= (n.270+61G=) c.816+61G= (n.816+61G=) | |
9 | g.127825170C>T | CA860197219 | ENG | c.270+61G>A (n.270+61G>A) c.816+61G>A (n.816+61G>A) | dbSNP |
9 | g.127825171T>C | CA2691809058 | ENG | c.270+60A>G (n.270+60A>G) c.816+60A>G (n.816+60A>G) | gnomAD v4 |
9 | g.127825171T>G | CA860197221 | ENG | c.270+60A>C (n.270+60A>C) c.816+60A>C (n.816+60A>C) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.127825171T= | CA1879974136 | ENG | c.270+60A= (n.270+60A=) c.816+60A= (n.816+60A=) | |
9 | g.127825172T>C | CA860197229 | ENG | c.270+59A>G (n.270+59A>G) c.816+59A>G (n.816+59A>G) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.127825172T= | CA1879974138 | ENG | c.270+59A= (n.270+59A=) c.816+59A= (n.816+59A=) | |
9 | g.127825173C>A | CA860197243 | ENG | c.270+58G>T (n.270+58G>T) c.816+58G>T (n.816+58G>T) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.127825173C= | CA1879974140 | ENG | c.270+58G= (n.270+58G=) c.816+58G= (n.816+58G=) | |
9 | g.127825173C>G | CA1129279762 | ENG | c.270+58G>C (n.270+58G>C) c.816+58G>C (n.816+58G>C) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.127825174C>A | CA2691809059 | ENG | c.270+57G>T (n.270+57G>T) c.816+57G>T (n.816+57G>T) | gnomAD v4 |
9 | g.127825174C>G | CA2691809060 | ENG | c.270+57G>C (n.270+57G>C) c.816+57G>C (n.816+57G>C) | gnomAD v4 |
9 | g.127825174C>T | CA2691809061 | ENG | c.270+57G>A (n.270+57G>A) c.816+57G>A (n.816+57G>A) | gnomAD v4 |
9 | g.127825175C>A | CA2502659661 | ENG | c.270+56G>T (n.270+56G>T) c.816+56G>T (n.816+56G>T) | |
9 | g.127825176T>C | CA2691809062 | ENG | c.270+55A>G (n.270+55A>G) c.816+55A>G (n.816+55A>G) | gnomAD v4 |
9 | g.127825177G>T | CA2839015802 | ENG | c.270+54C>A (n.270+54C>A) c.816+54C>A (n.816+54C>A) | |
9 | g.127825179del | CA2538422414 | ENG | c.270+52del (n.270+52del) c.816+52del (n.816+52del) | gnomAD v4 |
9 | g.127825179T>C | CA2579461307 | ENG | c.270+52A>G (n.270+52A>G) c.816+52A>G (n.816+52A>G) | |
9 | g.127825179_127825180delinsTC | CA1879974142 | ENG | c.270+51_270+52delinsGA (n.270+51_270+52delinsGA) c.816+51_816+52delinsGA (n.816+51_816+52delinsGA) | |
9 | g.127825180C= | CA1879974146 | ENG | c.270+51G= (n.270+51G=) c.816+51G= (n.816+51G=) | |
9 | g.127825180C>T | CA200313339 | ENG | c.270+51G>A (n.270+51G>A) c.816+51G>A (n.816+51G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127825181del | CA1879974143 | ENG | c.270+51del (n.270+51del) c.816+51del (n.816+51del) | dbSNP |
9 | g.127825181C>A | CA2558661854 | ENG | c.270+50G>T (n.270+50G>T) c.816+50G>T (n.816+50G>T) | |
9 | g.127825183G>C | CA590939282 | ENG | c.270+48C>G (n.270+48C>G) c.816+48C>G (n.816+48C>G) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.127825183G= | CA1879974148 | ENG | c.270+48C= (n.270+48C=) c.816+48C= (n.816+48C=) | |
9 | g.127825185G>A | CA2691809063 | ENG | c.270+46C>T (n.270+46C>T) c.816+46C>T (n.816+46C>T) | gnomAD v4 |
9 | g.127825185G>C | CA5252966 | ENG | c.270+46C>G (n.270+46C>G) c.816+46C>G (n.816+46C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127825185G= | CA1879974150 | ENG | c.270+46C= (n.270+46C=) c.816+46C= (n.816+46C=) | |
9 | g.127825185G>T | CA2691809064 | ENG | c.270+46C>A (n.270+46C>A) c.816+46C>A (n.816+46C>A) | gnomAD v4 |
9 | g.127825186G= | CA1879974153 | ENG | c.270+45C= (n.270+45C=) c.816+45C= (n.816+45C=) | |
9 | g.127825186G>T | CA590939283 | ENG | c.270+45C>A (n.270+45C>A) c.816+45C>A (n.816+45C>A) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.127825186_127825187delinsGT | CA1879974154 | ENG | c.270+44_270+45delinsAC (n.270+44_270+45delinsAC) c.816+44_816+45delinsAC (n.816+44_816+45delinsAC) | |
9 | g.127825188del | CA590939284 | ENG | c.270+44del (n.270+44del) c.816+44del (n.816+44del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127825189G>T | CA2785996489 | ENG | c.270+42C>A (n.270+42C>A) c.816+42C>A (n.816+42C>A) | |
9 | g.127825190G>A | CA1879974157 | ENG | c.270+41C>T (n.270+41C>T) c.816+41C>T (n.816+41C>T) | dbSNP |
9 | g.127825190G= | CA1879974156 | ENG | c.270+41C= (n.270+41C=) c.816+41C= (n.816+41C=) | |
9 | g.127825192A>G | CA2561384183 | ENG | c.270+39T>C (n.270+39T>C) c.816+39T>C (n.816+39T>C) | gnomAD v4 |
9 | g.127825193G>A | CA5252967 | ENG | c.270+38C>T (n.270+38C>T) c.816+38C>T (n.816+38C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.127825193G= | CA1879974160 | ENG | c.270+38C= (n.270+38C=) c.816+38C= (n.816+38C=) | |
9 | g.127825194T>G | CA1129279766 | ENG | c.270+37A>C (n.270+37A>C) c.816+37A>C (n.816+37A>C) | gnomAD v3 gnomAD v4 |
9 | g.127825196dup | CA590939285 | ENG | c.270+37dup (n.270+37dup) c.816+37dup (n.816+37dup) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.127825195T>A | CA2579461308 | ENG | c.270+36A>T (n.270+36A>T) c.816+36A>T (n.816+36A>T) | gnomAD v4 |
9 | g.127825196T>C | CA2579461309 | ENG | c.270+35A>G (n.270+35A>G) c.816+35A>G (n.816+35A>G) | |
9 | g.127825196T>G | CA5252968 | ENG | c.270+35A>C (n.270+35A>C) c.816+35A>C (n.816+35A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.127825196T= | CA1879974164 | ENG | c.270+35A= (n.270+35A=) c.816+35A= (n.816+35A=) | |
9 | g.127825198G>C | CA2691809065 | ENG | c.270+33C>G (n.270+33C>G) c.816+33C>G (n.816+33C>G) | gnomAD v4 |
9 | g.127825198G>T | CA2691809066 | ENG | c.270+33C>A (n.270+33C>A) c.816+33C>A (n.816+33C>A) | gnomAD v4 |
9 | g.127825199G>A | CA2691809067 | ENG | c.270+32C>T (n.270+32C>T) c.816+32C>T (n.816+32C>T) | gnomAD v4 |
9 | g.127825202T>C | CA2691809068 | ENG | c.270+29A>G (n.270+29A>G) c.816+29A>G (n.816+29A>G) | gnomAD v4 |
9 | g.127825203T>C | CA590939286 | ENG | c.270+28A>G (n.270+28A>G) c.816+28A>G (n.816+28A>G) | dbSNP gnomAD v2 |
9 | g.127825203T= | CA1879974167 | ENG | c.270+28A= (n.270+28A=) c.816+28A= (n.816+28A=) | |
9 | g.127825205T>A | CA2691809069 | ENG | c.270+26A>T (n.270+26A>T) c.816+26A>T (n.816+26A>T) | gnomAD v4 |
9 | g.127825205T>C | CA2691809070 | ENG | c.270+26A>G (n.270+26A>G) c.816+26A>G (n.816+26A>G) | gnomAD v4 |
9 | g.127825206G>A | CA1879974169 | ENG | c.270+25C>T (n.270+25C>T) c.816+25C>T (n.816+25C>T) | dbSNP |
9 | g.127825206G= | CA1879974168 | ENG | c.270+25C= (n.270+25C=) c.816+25C= (n.816+25C=) | |
9 | g.127825208C>A | CA653542276 | ENG | c.270+23G>T (n.270+23G>T) c.816+23G>T (n.816+23G>T) | COSMIC |
9 | g.127825208C= | CA1879974172 | ENG | c.270+23G= (n.270+23G=) c.816+23G= (n.816+23G=) | |
9 | g.127825208C>G | CA5252969 | ENG | c.270+23G>C (n.270+23G>C) c.816+23G>C (n.816+23G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127825209C>A | CA2691809071 | ENG | c.270+22G>T (n.270+22G>T) c.816+22G>T (n.816+22G>T) | gnomAD v4 |
9 | g.127825210C>A | CA2839015795 | ENG | c.270+21G>T (n.270+21G>T) c.816+21G>T (n.816+21G>T) | |
9 | g.127825210C= | CA1879974176 | ENG | c.270+21G= (n.270+21G=) c.816+21G= (n.816+21G=) | |
9 | g.127825210C>G | CA5252971 | ENG | c.270+21G>C (n.270+21G>C) c.816+21G>C (n.816+21G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127825210C>T | CA5252970 | ENG | c.270+21G>A (n.270+21G>A) c.816+21G>A (n.816+21G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127825211G>A | CA5252972 | ENG | c.270+20C>T (n.270+20C>T) c.816+20C>T (n.816+20C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127825211G= | CA1879974180 | ENG | c.270+20C= (n.270+20C=) c.816+20C= (n.816+20C=) | |
9 | g.127825211G>T | CA5252973 | ENG | c.270+20C>A (n.270+20C>A) c.816+20C>A (n.816+20C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.127825212G>A | CA1879974187 | ENG | c.270+19C>T (n.270+19C>T) c.816+19C>T (n.816+19C>T) | dbSNP |
9 | g.127825212G= | CA1879974184 | ENG | c.270+19C= (n.270+19C=) c.816+19C= (n.816+19C=) | |
9 | g.127825214A>T | CA2695211286 | ENG | c.270+17T>A (n.270+17T>A) c.816+17T>A (n.816+17T>A) | |
9 | g.127825216C>T | CA2691809072 | ENG | c.270+15G>A (n.270+15G>A) c.816+15G>A (n.816+15G>A) | gnomAD v4 |
9 | g.127825217T>C | CA5252974 | ENG | c.270+14A>G (n.270+14A>G) c.816+14A>G (n.816+14A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127825217T= | CA1879974188 | ENG | c.270+14A= (n.270+14A=) c.816+14A= (n.816+14A=) | |
9 | g.127825218G>A | CA860197258 | ENG | c.270+13C>T (n.270+13C>T) c.816+13C>T (n.816+13C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
9 | g.127825218G= | CA1879974190 | ENG | c.270+13C= (n.270+13C=) c.816+13C= (n.816+13C=) | |
9 | g.127825219C= | CA1879974193 | ENG | c.270+12G= (n.270+12G=) c.816+12G= (n.816+12G=) | |
9 | g.127825219C>T | CA5252975 | ENG | c.270+12G>A (n.270+12G>A) c.816+12G>A (n.816+12G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127825220G>A | CA200313382 | ENG | c.270+11C>T (n.270+11C>T) c.816+11C>T (n.816+11C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127825220G= | CA1879974194 | ENG | c.270+11C= (n.270+11C=) c.816+11C= (n.816+11C=) | |
9 | g.127825222A= | CA1879974201 | ENG | c.270+9T= (n.270+9T=) c.816+9T= (n.816+9T=) | |
9 | g.127825222A>G | CA1879974202 | ENG | c.270+9T>C (n.270+9T>C) c.816+9T>C (n.816+9T>C) | dbSNP |
9 | g.127825222A>T | CA2573143974 | ENG | c.270+9T>A (n.270+9T>A) c.816+9T>A (n.816+9T>A) | ClinVar dbSNP |
9 | g.127825223C= | CA1879974205 | ENG | c.270+8G= (n.270+8G=) c.816+8G= (n.816+8G=) | |
9 | g.127825223C>G | CA5252977 | ENG | c.270+8G>C (n.270+8G>C) c.816+8G>C (n.816+8G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.127825223C>T | CA5252976 | ENG | c.270+8G>A (n.270+8G>A) c.816+8G>A (n.816+8G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127825225A= | CA1879974210 | ENG | c.270+6T= (n.270+6T=) c.816+6T= (n.816+6T=) | |
9 | g.127825225A>G | CA5252978 | ENG | c.270+6T>C (n.270+6T>C) c.816+6T>C (n.816+6T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127825226C>G | CA2580079651 | ENG | c.270+5G>C (n.270+5G>C) c.816+5G>C (n.816+5G>C) | ClinVar |
9 | g.127825228C>A | CA2740089967 | ENG | c.270+3G>T (n.270+3G>T) c.816+3G>T (n.816+3G>T) | ClinVar |
9 | g.127825228C= | CA1879974217 | ENG | c.270+3G= (n.270+3G=) c.816+3G= (n.816+3G=) | |
9 | g.127825228C>T | CA1879974218 | ENG | c.270+3G>A (n.270+3G>A) c.816+3G>A (n.816+3G>A) | dbSNP gnomAD v4 |
9 | g.127825229A= | CA1879974221 | ENG | c.270+2T= (n.270+2T=) c.816+2T= (n.816+2T=) | |
9 | g.127825229A>C | CA374982979 | ENG | c.270+2T>G (n.270+2T>G) c.816+2T>G (n.816+2T>G) | |
9 | g.127825229A>G | CA374982987 | ENG | c.270+2T>C (n.270+2T>C) c.816+2T>C (n.816+2T>C) | ClinVar dbSNP |
9 | g.127825229A>T | CA374982981 | ENG | c.270+2T>A (n.270+2T>A) c.816+2T>A (n.816+2T>A) | |
9 | g.127825230C>A | CA374982989 | ENG | c.270+1G>T (n.270+1G>T) c.816+1G>T (n.816+1G>T) | |
9 | g.127825230C= | CA1879974227 | ENG | c.270+1G= (n.270+1G=) c.816+1G= (n.816+1G=) | |
9 | g.127825230C>G | CA374982990 | ENG | c.270+1G>C (n.270+1G>C) c.816+1G>C (n.816+1G>C) | |
9 | g.127825230C>T | CA200313398 | ENG | c.270+1G>A (n.270+1G>A) c.816+1G>A (n.816+1G>A) | ClinVar dbSNP |
9 | g.127825231C>A | CA374982995 | ENG | c.270G>T (p.Trp90Cys) c.816G>T (p.Trp272Cys) | |
9 | g.127825231C= | CA1879974233 | ENG | c.270G= (p.Trp90=) c.816G= (p.Trp272=) | |
9 | g.127825231C>G | CA374982997 | ENG | c.270G>C (p.Trp90Cys) c.816G>C (p.Trp272Cys) | |
9 | g.127825231C>T | CA10603083 | ENG | c.270G>A (p.Trp90Ter) c.816G>A (p.Trp272Ter) | ClinVar dbSNP |
9 | g.127825232C>A | CA374983002 | ENG | c.269G>T (p.Trp90Leu) c.815G>T (p.Trp272Leu) | |
9 | g.127825232C= | CA1879974242 | ENG | c.269G= (p.Trp90=) c.815G= (p.Trp272=) | |
9 | g.127825232C>G | CA374983004 | ENG | c.269G>C (p.Trp90Ser) c.815G>C (p.Trp272Ser) | |
9 | g.127825232C>T | CA374983007 | ENG | c.269G>A (p.Trp90Ter) c.815G>A (p.Trp272Ter) | ClinVar dbSNP |
9 | g.127825233A>C | CA374983008 | ENG | c.268T>G (p.Trp90Gly) c.814T>G (p.Trp272Gly) | |
9 | g.127825233A>G | CA374983010 | ENG | c.268T>C (p.Trp90Arg) c.814T>C (p.Trp272Arg) | |
9 | g.127825233A>T | CA374983012 | ENG | c.268T>A (p.Trp90Arg) c.814T>A (p.Trp272Arg) | |
9 | g.127825234G>A | CA467475080 | ENG | c.267C>T (p.Ile89=) c.813C>T (p.Ile271=) | |
9 | g.127825234G>C | CA374983015 | ENG | c.267C>G (p.Ile89Met) c.813C>G (p.Ile271Met) | |
9 | g.127825234G>T | CA467475081 | ENG | c.267C>A (p.Ile89=) c.813C>A (p.Ile271=) | |
9 | g.127825235A= | CA1879974244 | ENG | c.266T= (p.Ile89=) c.812T= (p.Ile271=) | |
9 | g.127825235A>C | CA374983018 | ENG | c.266T>G (p.Ile89Ser) c.812T>G (p.Ile271Ser) | |
9 | g.127825235A>G | CA374983022 | ENG | c.266T>C (p.Ile89Thr) c.812T>C (p.Ile271Thr) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.127825235A>T | CA374983020 | ENG | c.266T>A (p.Ile89Asn) c.812T>A (p.Ile271Asn) | |
9 | g.127825236T>A | CA374983024 | ENG | c.265A>T (p.Ile89Phe) c.811A>T (p.Ile271Phe) | |
9 | g.127825236T>C | CA374983027 | ENG | c.265A>G (p.Ile89Val) c.811A>G (p.Ile271Val) | |
9 | g.127825236T>G | CA374983029 | ENG | c.265A>C (p.Ile89Leu) c.811A>C (p.Ile271Leu) | |
9 | g.127825237C>A | CA374983032 | ENG | c.264G>T (p.Gln88His) c.810G>T (p.Gln270His) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.127825237C= | CA1879974248 | ENG | c.264G= (p.Gln88=) c.810G= (p.Gln270=) | |
9 | g.127825237C>G | CA374983034 | ENG | c.264G>C (p.Gln88His) c.810G>C (p.Gln270His) | |
9 | g.127825237C>T | CA467475082 | ENG | c.264G>A (p.Gln88=) c.810G>A (p.Gln270=) | |
9 | g.127825238T>A | CA374983036 | ENG | c.263A>T (p.Gln88Leu) c.809A>T (p.Gln270Leu) | |
9 | g.127825238T>C | CA5252979 | ENG | c.263A>G (p.Gln88Arg) c.809A>G (p.Gln270Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.127825238T>G | CA374983038 | ENG | c.263A>C (p.Gln88Pro) c.809A>C (p.Gln270Pro) | |
9 | g.127825238T= | CA1879974254 | ENG | c.263A= (p.Gln88=) c.809A= (p.Gln270=) | |
9 | g.127825239G>A | CA374983040 | ENG | c.262C>T (p.Gln88Ter) c.808C>T (p.Gln270Ter) | ClinVar dbSNP |
9 | g.127825239G>C | CA374983041 | ENG | c.262C>G (p.Gln88Glu) c.808C>G (p.Gln270Glu) | |
9 | g.127825239G= | CA1879974260 | ENG | c.262C= (p.Gln88=) c.808C= (p.Gln270=) | |
9 | g.127825239G>T | CA374983044 | ENG | c.262C>A (p.Gln88Lys) c.808C>A (p.Gln270Lys) | gnomAD v4 |
9 | g.127825240C>A | CA374983051 | ENG | c.261G>T (p.Met87Ile) c.807G>T (p.Met269Ile) | |
9 | g.127825240C>G | CA374983049 | ENG | c.261G>C (p.Met87Ile) c.807G>C (p.Met269Ile) | |
9 | g.127825240C>T | CA374983047 | ENG | c.261G>A (p.Met87Ile) c.807G>A (p.Met269Ile) | gnomAD v4 |
9 | g.127825241A= | CA1879974278 | ENG | c.260T= (p.Met87=) c.806T= (p.Met269=) | |
9 | g.127825241A>C | CA374983056 | ENG | c.260T>G (p.Met87Arg) c.806T>G (p.Met269Arg) | ClinVar dbSNP |
9 | g.127825241A>G | CA5252980 | ENG | c.260T>C (p.Met87Thr) c.806T>C (p.Met269Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.127825241A>T | CA374983058 | ENG | c.260T>A (p.Met87Lys) c.806T>A (p.Met269Lys) | ClinVar dbSNP |
9 | g.127825242T>A | CA374983061 | ENG | c.259A>T (p.Met87Leu) c.805A>T (p.Met269Leu) | gnomAD v4 |
9 | g.127825242T>C | CA374983063 | ENG | c.259A>G (p.Met87Val) c.805A>G (p.Met269Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127825242T>G | CA374983065 | ENG | c.259A>C (p.Met87Leu) c.805A>C (p.Met269Leu) | dbSNP gnomAD v2 |
9 | g.127825242T= | CA1879974294 | ENG | c.259A= (p.Met87=) c.805A= (p.Met269=) | |
9 | g.127825242_127825248delinsTGTTGTG | CA1879974299 | ENG | c.253_259delinsCACAACA (p.His85=) c.799_805delinsCACAACA (p.His267=) | |
9 | g.127825243G>A | CA467475083 | ENG | c.258C>T (p.Asn86=) c.804C>T (p.Asn268=) | gnomAD v4 |
9 | g.127825243G>C | CA374983068 | ENG | c.258C>G (p.Asn86Lys) c.804C>G (p.Asn268Lys) | |
9 | g.127825243G>T | CA374983070 | ENG | c.258C>A (p.Asn86Lys) c.804C>A (p.Asn268Lys) | |
9 | g.127825247_127825252del | CA915947174 | ENG | c.253_258del (p.His85_Asn86del) c.799_804del (p.His267_Asn268del) | ClinVar dbSNP |
9 | g.127825244T>A | CA374983073 | ENG | c.257A>T (p.Asn86Ile) c.803A>T (p.Asn268Ile) | |
9 | g.127825244T>C | CA374983075 | ENG | c.257A>G (p.Asn86Ser) c.803A>G (p.Asn268Ser) | |
9 | g.127825244T>G | CA374983077 | ENG | c.257A>C (p.Asn86Thr) c.803A>C (p.Asn268Thr) | |
9 | g.127825245T>A | CA374983080 | ENG | c.256A>T (p.Asn86Tyr) c.802A>T (p.Asn268Tyr) | |
9 | g.127825245T>C | CA374983082 | ENG | c.256A>G (p.Asn86Asp) c.802A>G (p.Asn268Asp) | |
9 | g.127825245T>G | CA374983084 | ENG | c.256A>C (p.Asn86His) c.802A>C (p.Asn268His) | |
9 | g.127825246G>A | CA467475084 | ENG | c.255C>T (p.His85=) c.801C>T (p.His267=) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.127825246G>C | CA374983086 | ENG | c.255C>G (p.His85Gln) c.801C>G (p.His267Gln) | |
9 | g.127825246G= | CA1879974308 | ENG | c.255C= (p.His85=) c.801C= (p.His267=) | |
9 | g.127825246G>T | CA374983090 | ENG | c.255C>A (p.His85Gln) c.801C>A (p.His267Gln) | |
9 | g.127825247T>A | CA374983096 | ENG | c.254A>T (p.His85Leu) c.800A>T (p.His267Leu) | |
9 | g.127825247T>C | CA374983092 | ENG | c.254A>G (p.His85Arg) c.800A>G (p.His267Arg) | |
9 | g.127825247T>G | CA374983094 | ENG | c.254A>C (p.His85Pro) c.800A>C (p.His267Pro) | |
9 | g.127825248G>A | CA374983101 | ENG | c.253C>T (p.His85Tyr) c.799C>T (p.His267Tyr) | |
9 | g.127825248G>C | CA374983102 | ENG | c.253C>G (p.His85Asp) c.799C>G (p.His267Asp) | |
9 | g.127825248G= | CA1879974313 | ENG | c.253C= (p.His85=) c.799C= (p.His267=) | |
9 | g.127825248G>T | CA374983104 | ENG | c.253C>A (p.His85Asn) c.799C>A (p.His267Asn) | dbSNP |