Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.121854619_121854622del | CA1067454870 | BBS7 | c.718+85_718+88del (n.718+85_718+88del) c.721+85_721+88del (n.721+85_721+88del) c.766+85_766+88del (n.766+85_766+88del) c.763+85_763+88del (n.763+85_763+88del) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.121854622A>G | CA2671949149 | BBS7 | c.718+82T>C (n.718+82T>C) c.721+82T>C (n.721+82T>C) c.766+82T>C (n.766+82T>C) c.763+82T>C (n.763+82T>C) | gnomAD v4 |
4 | g.121854622_121854629del | CA2551303216 | BBS7 | c.718+75_718+82del (n.718+75_718+82del) c.721+75_721+82del (n.721+75_721+82del) c.766+75_766+82del (n.766+75_766+82del) c.763+75_763+82del (n.763+75_763+82del) | |
4 | g.121854623G>A | CA786316011 | BBS7 | c.718+81C>T (n.718+81C>T) c.721+81C>T (n.721+81C>T) c.766+81C>T (n.766+81C>T) c.763+81C>T (n.763+81C>T) | dbSNP gnomAD v4 |
4 | g.121854623G= | CA1490025935 | BBS7 | c.718+81C= (n.718+81C=) c.721+81C= (n.721+81C=) c.766+81C= (n.766+81C=) c.763+81C= (n.763+81C=) | |
4 | g.121854623G>T | CA2671949150 | BBS7 | c.718+81C>A (n.718+81C>A) c.721+81C>A (n.721+81C>A) c.766+81C>A (n.766+81C>A) c.763+81C>A (n.763+81C>A) | gnomAD v4 |
4 | g.121854623_121854628delinsGATAAA | CA1490025936 | BBS7 | c.718+76_718+81delinsTTTATC (n.718+76_718+81delinsTTTATC) c.721+76_721+81delinsTTTATC (n.721+76_721+81delinsTTTATC) c.766+76_766+81delinsTTTATC (n.766+76_766+81delinsTTTATC) c.763+76_763+81delinsTTTATC (n.763+76_763+81delinsTTTATC) | |
4 | g.121854624A= | CA1490025938 | BBS7 | c.718+80T= (n.718+80T=) c.721+80T= (n.721+80T=) c.766+80T= (n.766+80T=) c.763+80T= (n.763+80T=) | |
4 | g.121854624A>G | CA104766618 | BBS7 | c.718+80T>C (n.718+80T>C) c.721+80T>C (n.721+80T>C) c.766+80T>C (n.766+80T>C) c.763+80T>C (n.763+80T>C) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.121854627_121854631del | CA1490025937 | BBS7 | c.718+76_718+80del (n.718+76_718+80del) c.721+76_721+80del (n.721+76_721+80del) c.766+76_766+80del (n.766+76_766+80del) c.763+76_763+80del (n.763+76_763+80del) | dbSNP gnomAD v4 |
4 | g.121854625T>A | CA2671949151 | BBS7 | c.718+79A>T (n.718+79A>T) c.721+79A>T (n.721+79A>T) c.766+79A>T (n.766+79A>T) c.763+79A>T (n.763+79A>T) | gnomAD v4 |
4 | g.121854625T>C | CA1490025940 | BBS7 | c.718+79A>G (n.718+79A>G) c.721+79A>G (n.721+79A>G) c.766+79A>G (n.766+79A>G) c.763+79A>G (n.763+79A>G) | dbSNP gnomAD v4 |
4 | g.121854625T= | CA1490025939 | BBS7 | c.718+79A= (n.718+79A=) c.721+79A= (n.721+79A=) c.766+79A= (n.766+79A=) c.763+79A= (n.763+79A=) | |
4 | g.121854629dup | CA2671949152 | BBS7 | c.718+78dup (n.718+78dup) c.721+78dup (n.721+78dup) c.766+78dup (n.766+78dup) c.763+78dup (n.763+78dup) | gnomAD v4 |
4 | g.121854627A>T | CA2578181042 | BBS7 | c.718+77T>A (n.718+77T>A) c.721+77T>A (n.721+77T>A) c.766+77T>A (n.766+77T>A) c.763+77T>A (n.763+77T>A) | |
4 | g.121854629A>G | CA2671949153 | BBS7 | c.718+75T>C (n.718+75T>C) c.721+75T>C (n.721+75T>C) c.766+75T>C (n.766+75T>C) c.763+75T>C (n.763+75T>C) | gnomAD v4 |
4 | g.121854630T>C | CA2578181043 | BBS7 | c.718+74A>G (n.718+74A>G) c.721+74A>G (n.721+74A>G) c.766+74A>G (n.766+74A>G) c.763+74A>G (n.763+74A>G) | gnomAD v4 |
4 | g.121854630T>G | CA786316012 | BBS7 | c.718+74A>C (n.718+74A>C) c.721+74A>C (n.721+74A>C) c.766+74A>C (n.766+74A>C) c.763+74A>C (n.763+74A>C) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.121854630T= | CA1490025941 | BBS7 | c.718+74A= (n.718+74A=) c.721+74A= (n.721+74A=) c.766+74A= (n.766+74A=) c.763+74A= (n.763+74A=) | |
4 | g.121854631A>G | CA2578181044 | BBS7 | c.718+73T>C (n.718+73T>C) c.721+73T>C (n.721+73T>C) c.766+73T>C (n.766+73T>C) c.763+73T>C (n.763+73T>C) | gnomAD v4 |
4 | g.121854631A>T | CA2671949154 | BBS7 | c.718+73T>A (n.718+73T>A) c.721+73T>A (n.721+73T>A) c.766+73T>A (n.766+73T>A) c.763+73T>A (n.763+73T>A) | gnomAD v4 |
4 | g.121854632G>A | CA2671949155 | BBS7 | c.718+72C>T (n.718+72C>T) c.721+72C>T (n.721+72C>T) c.766+72C>T (n.766+72C>T) c.763+72C>T (n.763+72C>T) | gnomAD v4 |
4 | g.121854632G>T | CA2578181045 | BBS7 | c.718+72C>A (n.718+72C>A) c.721+72C>A (n.721+72C>A) c.766+72C>A (n.766+72C>A) c.763+72C>A (n.763+72C>A) | gnomAD v4 |
4 | g.121854632_121854636delinsGAATA | CA1490025942 | BBS7 | c.718+68_718+72delinsTATTC (n.718+68_718+72delinsTATTC) c.721+68_721+72delinsTATTC (n.721+68_721+72delinsTATTC) c.766+68_766+72delinsTATTC (n.766+68_766+72delinsTATTC) c.763+68_763+72delinsTATTC (n.763+68_763+72delinsTATTC) | |
4 | g.121854636_121854639del | CA786316019 | BBS7 | c.718+68_718+71del (n.718+68_718+71del) c.721+68_721+71del (n.721+68_721+71del) c.766+68_766+71del (n.766+68_766+71del) c.763+68_763+71del (n.763+68_763+71del) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.121854634A= | CA1490025943 | BBS7 | c.718+70T= (n.718+70T=) c.721+70T= (n.721+70T=) c.766+70T= (n.766+70T=) c.763+70T= (n.763+70T=) | |
4 | g.121854634A>G | CA786316021 | BBS7 | c.718+70T>C (n.718+70T>C) c.721+70T>C (n.721+70T>C) c.766+70T>C (n.766+70T>C) c.763+70T>C (n.763+70T>C) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.121854634A>T | CA2578181046 | BBS7 | c.718+70T>A (n.718+70T>A) c.721+70T>A (n.721+70T>A) c.766+70T>A (n.766+70T>A) c.763+70T>A (n.763+70T>A) | |
4 | g.121854635T>C | CA2671949156 | BBS7 | c.718+69A>G (n.718+69A>G) c.721+69A>G (n.721+69A>G) c.766+69A>G (n.766+69A>G) c.763+69A>G (n.763+69A>G) | gnomAD v4 |
4 | g.121854637A>G | CA2671949158 | BBS7 | c.718+67T>C (n.718+67T>C) c.721+67T>C (n.721+67T>C) c.766+67T>C (n.766+67T>C) c.763+67T>C (n.763+67T>C) | gnomAD v4 |
4 | g.121854638_121854641del | CA2671949157 | BBS7 | c.718+64_718+67del (n.718+64_718+67del) c.721+64_721+67del (n.721+64_721+67del) c.766+64_766+67del (n.766+64_766+67del) c.763+64_763+67del (n.763+64_763+67del) | gnomAD v4 |
4 | g.121854638A>G | CA2671949159 | BBS7 | c.718+66T>C (n.718+66T>C) c.721+66T>C (n.721+66T>C) c.766+66T>C (n.766+66T>C) c.763+66T>C (n.763+66T>C) | gnomAD v4 |
4 | g.121854639T>A | CA2578181047 | BBS7 | c.718+65A>T (n.718+65A>T) c.721+65A>T (n.721+65A>T) c.766+65A>T (n.766+65A>T) c.763+65A>T (n.763+65A>T) | gnomAD v4 |
4 | g.121854639T>C | CA2671949160 | BBS7 | c.718+65A>G (n.718+65A>G) c.721+65A>G (n.721+65A>G) c.766+65A>G (n.766+65A>G) c.763+65A>G (n.763+65A>G) | gnomAD v4 |
4 | g.121854641A= | CA1490025944 | BBS7 | c.718+63T= (n.718+63T=) c.721+63T= (n.721+63T=) c.766+63T= (n.766+63T=) c.763+63T= (n.763+63T=) | |
4 | g.121854641A>G | CA104766621 | BBS7 | c.718+63T>C (n.718+63T>C) c.721+63T>C (n.721+63T>C) c.766+63T>C (n.766+63T>C) c.763+63T>C (n.763+63T>C) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.121854642T>C | CA104766626 | BBS7 | c.718+62A>G (n.718+62A>G) c.721+62A>G (n.721+62A>G) c.766+62A>G (n.766+62A>G) c.763+62A>G (n.763+62A>G) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.121854642T>G | CA2671949161 | BBS7 | c.718+62A>C (n.718+62A>C) c.721+62A>C (n.721+62A>C) c.766+62A>C (n.766+62A>C) c.763+62A>C (n.763+62A>C) | gnomAD v4 |
4 | g.121854642T= | CA1490025945 | BBS7 | c.718+62A= (n.718+62A=) c.721+62A= (n.721+62A=) c.766+62A= (n.766+62A=) c.763+62A= (n.763+62A=) | |
4 | g.121854643A= | CA1490025946 | BBS7 | c.718+61T= (n.718+61T=) c.721+61T= (n.721+61T=) c.766+61T= (n.766+61T=) c.763+61T= (n.763+61T=) | |
4 | g.121854643A>C | CA1490025947 | BBS7 | c.718+61T>G (n.718+61T>G) c.721+61T>G (n.721+61T>G) c.766+61T>G (n.766+61T>G) c.763+61T>G (n.763+61T>G) | dbSNP |
4 | g.121854643A>G | CA2671949162 | BBS7 | c.718+61T>C (n.718+61T>C) c.721+61T>C (n.721+61T>C) c.766+61T>C (n.766+61T>C) c.763+61T>C (n.763+61T>C) | gnomAD v4 |
4 | g.121854644T>A | CA2671949163 | BBS7 | c.718+60A>T (n.718+60A>T) c.721+60A>T (n.721+60A>T) c.766+60A>T (n.766+60A>T) c.763+60A>T (n.763+60A>T) | gnomAD v4 |
4 | g.121854644T>C | CA786316027 | BBS7 | c.718+60A>G (n.718+60A>G) c.721+60A>G (n.721+60A>G) c.766+60A>G (n.766+60A>G) c.763+60A>G (n.763+60A>G) | dbSNP gnomAD v4 |
4 | g.121854644T= | CA1490025948 | BBS7 | c.718+60A= (n.718+60A=) c.721+60A= (n.721+60A=) c.766+60A= (n.766+60A=) c.763+60A= (n.763+60A=) | |
4 | g.121854645A>G | CA2671949164 | BBS7 | c.718+59T>C (n.718+59T>C) c.721+59T>C (n.721+59T>C) c.766+59T>C (n.766+59T>C) c.763+59T>C (n.763+59T>C) | gnomAD v4 |
4 | g.121854646del | CA2578181048 | BBS7 | c.718+59del (n.718+59del) c.721+59del (n.721+59del) c.766+59del (n.766+59del) c.763+59del (n.763+59del) | |
4 | g.121854647T>C | CA2671949166 | BBS7 | c.718+57A>G (n.718+57A>G) c.721+57A>G (n.721+57A>G) c.766+57A>G (n.766+57A>G) c.763+57A>G (n.763+57A>G) | gnomAD v4 |
4 | g.121854649del | CA2671949165 | BBS7 | c.718+57del (n.718+57del) c.721+57del (n.721+57del) c.766+57del (n.766+57del) c.763+57del (n.763+57del) | gnomAD v4 |
4 | g.121854650A= | CA1490025949 | BBS7 | c.718+54T= (n.718+54T=) c.721+54T= (n.721+54T=) c.766+54T= (n.766+54T=) c.763+54T= (n.763+54T=) | |
4 | g.121854650A>C | CA104766629 | BBS7 | c.718+54T>G (n.718+54T>G) c.721+54T>G (n.721+54T>G) c.766+54T>G (n.766+54T>G) c.763+54T>G (n.763+54T>G) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.121854650A>G | CA104766630 | BBS7 | c.718+54T>C (n.718+54T>C) c.721+54T>C (n.721+54T>C) c.766+54T>C (n.766+54T>C) c.763+54T>C (n.763+54T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.121854651A>G | CA2671949167 | BBS7 | c.718+53T>C (n.718+53T>C) c.721+53T>C (n.721+53T>C) c.766+53T>C (n.766+53T>C) c.763+53T>C (n.763+53T>C) | gnomAD v4 |
4 | g.121854651A>T | CA2671949168 | BBS7 | c.718+53T>A (n.718+53T>A) c.721+53T>A (n.721+53T>A) c.766+53T>A (n.766+53T>A) c.763+53T>A (n.763+53T>A) | gnomAD v4 |
4 | g.121854653A>T | CA2763339193 | BBS7 | c.718+51T>A (n.718+51T>A) c.721+51T>A (n.721+51T>A) c.766+51T>A (n.766+51T>A) c.763+51T>A (n.763+51T>A) | |
4 | g.121854656C= | CA1490025950 | BBS7 | c.718+48G= (n.718+48G=) c.721+48G= (n.721+48G=) c.766+48G= (n.766+48G=) c.763+48G= (n.763+48G=) | |
4 | g.121854656C>T | CA3064422 | BBS7 | c.718+48G>A (n.718+48G>A) c.721+48G>A (n.721+48G>A) c.766+48G>A (n.766+48G>A) c.763+48G>A (n.763+48G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.121854657T>C | CA2671949169 | BBS7 | c.718+47A>G (n.718+47A>G) c.721+47A>G (n.721+47A>G) c.766+47A>G (n.766+47A>G) c.763+47A>G (n.763+47A>G) | gnomAD v4 |
4 | g.121854658T>C | CA2671949170 | BBS7 | c.718+46A>G (n.718+46A>G) c.721+46A>G (n.721+46A>G) c.766+46A>G (n.766+46A>G) c.763+46A>G (n.763+46A>G) | gnomAD v4 |
4 | g.121854659A>C | CA2578181049 | BBS7 | c.718+45T>G (n.718+45T>G) c.721+45T>G (n.721+45T>G) c.766+45T>G (n.766+45T>G) c.763+45T>G (n.763+45T>G) | |
4 | g.121854660A>G | CA2763339194 | BBS7 | c.718+44T>C (n.718+44T>C) c.721+44T>C (n.721+44T>C) c.766+44T>C (n.766+44T>C) c.763+44T>C (n.763+44T>C) | |
4 | g.121854662A= | CA1490025951 | BBS7 | c.718+42T= (n.718+42T=) c.721+42T= (n.721+42T=) c.766+42T= (n.766+42T=) c.763+42T= (n.763+42T=) | |
4 | g.121854662A>G | CA3064423 | BBS7 | c.718+42T>C (n.718+42T>C) c.721+42T>C (n.721+42T>C) c.766+42T>C (n.766+42T>C) c.763+42T>C (n.763+42T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.121854662A>T | CA3064424 | BBS7 | c.718+42T>A (n.718+42T>A) c.721+42T>A (n.721+42T>A) c.766+42T>A (n.766+42T>A) c.763+42T>A (n.763+42T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.121854663A>G | CA2671949172 | BBS7 | c.718+41T>C (n.718+41T>C) c.721+41T>C (n.721+41T>C) c.766+41T>C (n.766+41T>C) c.763+41T>C (n.763+41T>C) | gnomAD v4 |
4 | g.121854664_121854665insTAT | CA2671949171 | BBS7 | c.718+41_718+42insAAT (n.718+41_718+42insAAT) c.721+41_721+42insAAT (n.721+41_721+42insAAT) c.766+41_766+42insAAT (n.766+41_766+42insAAT) c.763+41_763+42insAAT (n.763+41_763+42insAAT) | gnomAD v4 |
4 | g.121854664T>A | CA1490025953 | BBS7 | c.718+40A>T (n.718+40A>T) c.721+40A>T (n.721+40A>T) c.766+40A>T (n.766+40A>T) c.763+40A>T (n.763+40A>T) | dbSNP gnomAD v4 |
4 | g.121854664T>C | CA554188412 | BBS7 | c.718+40A>G (n.718+40A>G) c.721+40A>G (n.721+40A>G) c.766+40A>G (n.766+40A>G) c.763+40A>G (n.763+40A>G) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.121854664T= | CA1490025952 | BBS7 | c.718+40A= (n.718+40A=) c.721+40A= (n.721+40A=) c.766+40A= (n.766+40A=) c.763+40A= (n.763+40A=) | |
4 | g.121854665C>T | CA2671949173 | BBS7 | c.718+39G>A (n.718+39G>A) c.721+39G>A (n.721+39G>A) c.766+39G>A (n.766+39G>A) c.763+39G>A (n.763+39G>A) | gnomAD v4 |
4 | g.121854667T>C | CA1490025955 | BBS7 | c.718+37A>G (n.718+37A>G) c.721+37A>G (n.721+37A>G) c.766+37A>G (n.766+37A>G) c.763+37A>G (n.763+37A>G) | dbSNP gnomAD v4 |
4 | g.121854667T= | CA1490025954 | BBS7 | c.718+37A= (n.718+37A=) c.721+37A= (n.721+37A=) c.766+37A= (n.766+37A=) c.763+37A= (n.763+37A=) | |
4 | g.121854669G>T | CA2671949174 | BBS7 | c.718+35C>A (n.718+35C>A) c.721+35C>A (n.721+35C>A) c.766+35C>A (n.766+35C>A) c.763+35C>A (n.763+35C>A) | gnomAD v4 |
4 | g.121854670A>G | CA2578181050 | BBS7 | c.718+34T>C (n.718+34T>C) c.721+34T>C (n.721+34T>C) c.766+34T>C (n.766+34T>C) c.763+34T>C (n.763+34T>C) | gnomAD v4 |
4 | g.121854672A>C | CA2671949175 | BBS7 | c.718+32T>G (n.718+32T>G) c.721+32T>G (n.721+32T>G) c.766+32T>G (n.766+32T>G) c.763+32T>G (n.763+32T>G) | gnomAD v4 |
4 | g.121854672A>T | CA2763339195 | BBS7 | c.718+32T>A (n.718+32T>A) c.721+32T>A (n.721+32T>A) c.766+32T>A (n.766+32T>A) c.763+32T>A (n.763+32T>A) | |
4 | g.121854673C= | CA1490025956 | BBS7 | c.718+31G= (n.718+31G=) c.721+31G= (n.721+31G=) c.766+31G= (n.766+31G=) c.763+31G= (n.763+31G=) | |
4 | g.121854673C>T | CA554188413 | BBS7 | c.718+31G>A (n.718+31G>A) c.721+31G>A (n.721+31G>A) c.766+31G>A (n.766+31G>A) c.763+31G>A (n.763+31G>A) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.121854674C>A | CA2671949176 | BBS7 | c.718+30G>T (n.718+30G>T) c.721+30G>T (n.721+30G>T) c.766+30G>T (n.766+30G>T) c.763+30G>T (n.763+30G>T) | gnomAD v4 |
4 | g.121854674C>T | CA2578181051 | BBS7 | c.718+30G>A (n.718+30G>A) c.721+30G>A (n.721+30G>A) c.766+30G>A (n.766+30G>A) c.763+30G>A (n.763+30G>A) | |
4 | g.121854676C>A | CA2671949177 | BBS7 | c.718+28G>T (n.718+28G>T) c.721+28G>T (n.721+28G>T) c.766+28G>T (n.766+28G>T) c.763+28G>T (n.763+28G>T) | gnomAD v4 |
4 | g.121854676C>T | CA2671949178 | BBS7 | c.718+28G>A (n.718+28G>A) c.721+28G>A (n.721+28G>A) c.766+28G>A (n.766+28G>A) c.763+28G>A (n.763+28G>A) | gnomAD v4 |
4 | g.121854679A= | CA1490025957 | BBS7 | c.718+25T= (n.718+25T=) c.721+25T= (n.721+25T=) c.766+25T= (n.766+25T=) c.763+25T= (n.763+25T=) | |
4 | g.121854679A>C | CA3064425 | BBS7 | c.718+25T>G (n.718+25T>G) c.721+25T>G (n.721+25T>G) c.766+25T>G (n.766+25T>G) c.763+25T>G (n.763+25T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.121854682C>G | CA2671949179 | BBS7 | c.718+22G>C (n.718+22G>C) c.721+22G>C (n.721+22G>C) c.766+22G>C (n.766+22G>C) c.763+22G>C (n.763+22G>C) | gnomAD v4 |
4 | g.121854683T>C | CA2671949180 | BBS7 | c.718+21A>G (n.718+21A>G) c.721+21A>G (n.721+21A>G) c.766+21A>G (n.766+21A>G) c.763+21A>G (n.763+21A>G) | gnomAD v4 |
4 | g.121854684G>C | CA2671949181 | BBS7 | c.718+20C>G (n.718+20C>G) c.721+20C>G (n.721+20C>G) c.766+20C>G (n.766+20C>G) c.763+20C>G (n.763+20C>G) | ClinVar gnomAD v4 |
4 | g.121854684G= | CA1490025958 | BBS7 | c.718+20C= (n.718+20C=) c.721+20C= (n.721+20C=) c.766+20C= (n.766+20C=) c.763+20C= (n.763+20C=) | |
4 | g.121854684G>T | CA1067454882 | BBS7 | c.718+20C>A (n.718+20C>A) c.721+20C>A (n.721+20C>A) c.766+20C>A (n.766+20C>A) c.763+20C>A (n.763+20C>A) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.121854685A>G | CA2671949182 | BBS7 | c.718+19T>C (n.718+19T>C) c.721+19T>C (n.721+19T>C) c.766+19T>C (n.766+19T>C) c.763+19T>C (n.763+19T>C) | gnomAD v4 |
4 | g.121854688T>A | CA3064426 | BBS7 | c.718+16A>T (n.718+16A>T) c.721+16A>T (n.721+16A>T) c.766+16A>T (n.766+16A>T) c.763+16A>T (n.763+16A>T) | ClinVar dbSNP ExAC gnomAD v2 |
4 | g.121854688T= | CA1490025959 | BBS7 | c.718+16A= (n.718+16A=) c.721+16A= (n.721+16A=) c.766+16A= (n.766+16A=) c.763+16A= (n.763+16A=) | |
4 | g.121854689A= | CA1490025960 | BBS7 | c.718+15T= (n.718+15T=) c.721+15T= (n.721+15T=) c.766+15T= (n.766+15T=) c.763+15T= (n.763+15T=) | |
4 | g.121854689A>G | CA3064427 | BBS7 | c.718+15T>C (n.718+15T>C) c.721+15T>C (n.721+15T>C) c.766+15T>C (n.766+15T>C) c.763+15T>C (n.763+15T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.121854690C>A | CA1490025962 | BBS7 | c.718+14G>T (n.718+14G>T) c.721+14G>T (n.721+14G>T) c.766+14G>T (n.766+14G>T) c.763+14G>T (n.763+14G>T) | dbSNP |
4 | g.121854690C= | CA1490025961 | BBS7 | c.718+14G= (n.718+14G=) c.721+14G= (n.721+14G=) c.766+14G= (n.766+14G=) c.763+14G= (n.763+14G=) | |
4 | g.121854690C>T | CA2671949183 | BBS7 | c.718+14G>A (n.718+14G>A) c.721+14G>A (n.721+14G>A) c.766+14G>A (n.766+14G>A) c.763+14G>A (n.763+14G>A) | gnomAD v4 |
4 | g.121854691A= | CA1490025963 | BBS7 | c.718+13T= (n.718+13T=) c.721+13T= (n.721+13T=) c.766+13T= (n.766+13T=) c.763+13T= (n.763+13T=) | |
4 | g.121854691A>G | CA1490025964 | BBS7 | c.718+13T>C (n.718+13T>C) c.721+13T>C (n.721+13T>C) c.766+13T>C (n.766+13T>C) c.763+13T>C (n.763+13T>C) | dbSNP gnomAD v4 |
4 | g.121854692T>C | CA3064428 | BBS7 | c.718+12A>G (n.718+12A>G) c.721+12A>G (n.721+12A>G) c.766+12A>G (n.766+12A>G) c.763+12A>G (n.763+12A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.121854692T>G | CA554188414 | BBS7 | c.718+12A>C (n.718+12A>C) c.721+12A>C (n.721+12A>C) c.766+12A>C (n.766+12A>C) c.763+12A>C (n.763+12A>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.121854692T= | CA1490025965 | BBS7 | c.718+12A= (n.718+12A=) c.721+12A= (n.721+12A=) c.766+12A= (n.766+12A=) c.763+12A= (n.763+12A=) | |
4 | g.121854693G>A | CA3064429 | BBS7 | c.718+11C>T (n.718+11C>T) c.721+11C>T (n.721+11C>T) c.766+11C>T (n.766+11C>T) c.763+11C>T (n.763+11C>T) | dbSNP ExAC gnomAD v2 |
4 | g.121854693G= | CA1490025966 | BBS7 | c.718+11C= (n.718+11C=) c.721+11C= (n.721+11C=) c.766+11C= (n.766+11C=) c.763+11C= (n.763+11C=) | |
4 | g.121854694A>G | CA2578181052 | BBS7 | c.718+10T>C (n.718+10T>C) c.721+10T>C (n.721+10T>C) c.766+10T>C (n.766+10T>C) c.763+10T>C (n.763+10T>C) | |
4 | g.121854695A= | CA1490025967 | BBS7 | c.718+9T= (n.718+9T=) c.721+9T= (n.721+9T=) c.766+9T= (n.766+9T=) c.763+9T= (n.763+9T=) | |
4 | g.121854695A>G | CA3064430 | BBS7 | c.718+9T>C (n.718+9T>C) c.721+9T>C (n.721+9T>C) c.766+9T>C (n.766+9T>C) c.763+9T>C (n.763+9T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.121854699C>A | CA2671949184 | BBS7 | c.718+5G>T (n.718+5G>T) c.721+5G>T (n.721+5G>T) c.766+5G>T (n.766+5G>T) c.763+5G>T (n.763+5G>T) | gnomAD v4 |
4 | g.121854701T>A | CA2580071437 | BBS7 | c.718+3A>T (n.718+3A>T) c.721+3A>T (n.721+3A>T) c.766+3A>T (n.766+3A>T) c.763+3A>T (n.763+3A>T) | ClinVar |
4 | g.121854701T>C | CA554188415 | BBS7 | c.718+3A>G (n.718+3A>G) c.721+3A>G (n.721+3A>G) c.766+3A>G (n.766+3A>G) c.763+3A>G (n.763+3A>G) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.121854701T= | CA1490025968 | BBS7 | c.718+3A= (n.718+3A=) c.721+3A= (n.721+3A=) c.766+3A= (n.766+3A=) c.763+3A= (n.763+3A=) | |
4 | g.121854702A>C | CA358065481 | BBS7 | c.718+2T>G (n.718+2T>G) c.721+2T>G (n.721+2T>G) c.766+2T>G (n.766+2T>G) c.763+2T>G (n.763+2T>G) | |
4 | g.121854702A>G | CA358065488 | BBS7 | c.718+2T>C (n.718+2T>C) c.721+2T>C (n.721+2T>C) c.766+2T>C (n.766+2T>C) c.763+2T>C (n.763+2T>C) | |
4 | g.121854702A>T | CA358065492 | BBS7 | c.718+2T>A (n.718+2T>A) c.721+2T>A (n.721+2T>A) c.766+2T>A (n.766+2T>A) c.763+2T>A (n.763+2T>A) | |
4 | g.121854703C>A | CA104766659 | BBS7 | c.718+1G>T (n.718+1G>T) c.721+1G>T (n.721+1G>T) c.766+1G>T (n.766+1G>T) c.763+1G>T (n.763+1G>T) | dbSNP |
4 | g.121854703C= | CA1490025969 | BBS7 | c.718+1G= (n.718+1G=) c.721+1G= (n.721+1G=) c.766+1G= (n.766+1G=) c.763+1G= (n.763+1G=) | |
4 | g.121854703C>G | CA358065520 | BBS7 | c.718+1G>C (n.718+1G>C) c.721+1G>C (n.721+1G>C) c.766+1G>C (n.766+1G>C) c.763+1G>C (n.763+1G>C) | ClinVar |
4 | g.121854703C>T | CA358065522 | BBS7 | c.718+1G>A (n.718+1G>A) c.721+1G>A (n.721+1G>A) c.766+1G>A (n.766+1G>A) c.763+1G>A (n.763+1G>A) | |
4 | g.121854707_121854709dup | CA2671949185 | BBS7 | c.717_718+1dup c.720_721+1dup c.765_766+1dup c.762_763+1dup | gnomAD v4 |
4 | g.121854704C>A | CA358065523 | BBS7 | c.718G>T (p.Gly240Cys) c.721G>T (p.Gly241Cys) c.766G>T (p.Gly256Cys) c.763G>T (p.Gly255Cys) | |
4 | g.121854704C= | CA1490025970 | BBS7 | c.718G= (p.Gly240=) c.721G= (p.Gly241=) c.766G= (p.Gly256=) c.763G= (p.Gly255=) | |
4 | g.121854704C>G | CA358065524 | BBS7 | c.718G>C (p.Gly240Arg) c.721G>C (p.Gly241Arg) c.766G>C (p.Gly256Arg) c.763G>C (p.Gly255Arg) | |
4 | g.121854704C>T | CA3064431 | BBS7 | c.718G>A (p.Gly240Ser) c.721G>A (p.Gly241Ser) c.766G>A (p.Gly256Ser) c.763G>A (p.Gly255Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.121854705T>A | CA440922761 | BBS7 | c.717A>T (p.Gly239=) c.720A>T (p.Gly240=) c.765A>T (p.Gly255=) c.762A>T (p.Gly254=) | |
4 | g.121854705T>C | CA440922762 | BBS7 | c.717A>G (p.Gly239=) c.720A>G (p.Gly240=) c.765A>G (p.Gly255=) c.762A>G (p.Gly254=) | |
4 | g.121854705T>G | CA440922763 | BBS7 | c.717A>C (p.Gly239=) c.720A>C (p.Gly240=) c.765A>C (p.Gly255=) c.762A>C (p.Gly254=) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.121854705T= | CA1490025971 | BBS7 | c.717A= (p.Gly239=) c.720A= (p.Gly240=) c.765A= (p.Gly255=) c.762A= (p.Gly254=) | |
4 | g.121854706C>A | CA358065533 | BBS7 | c.716G>T (p.Gly239Val) c.719G>T (p.Gly240Val) c.764G>T (p.Gly255Val) c.761G>T (p.Gly254Val) | |
4 | g.121854706C>G | CA358065540 | BBS7 | c.716G>C (p.Gly239Ala) c.719G>C (p.Gly240Ala) c.764G>C (p.Gly255Ala) c.761G>C (p.Gly254Ala) | |
4 | g.121854706C>T | CA358065529 | BBS7 | c.716G>A (p.Gly239Glu) c.719G>A (p.Gly240Glu) c.764G>A (p.Gly255Glu) c.761G>A (p.Gly254Glu) | |
4 | g.121854706_121854710delinsCCTCT | CA1490025972 | BBS7 | c.712_716delinsAGAGG (p.Arg238=) c.715_719delinsAGAGG (p.Arg239=) c.760_764delinsAGAGG (p.Arg254=) c.757_761delinsAGAGG (p.Arg253=) | |
4 | g.121854707C>A | CA358065544 | BBS7 | c.715G>T (p.Gly239Ter) c.718G>T (p.Gly240Ter) c.763G>T (p.Gly255Ter) c.760G>T (p.Gly254Ter) | |
4 | g.121854707C>G | CA358065545 | BBS7 | c.715G>C (p.Gly239Arg) c.718G>C (p.Gly240Arg) c.763G>C (p.Gly255Arg) c.760G>C (p.Gly254Arg) | |
4 | g.121854707C>T | CA358065546 | BBS7 | c.715G>A (p.Gly239Arg) c.718G>A (p.Gly240Arg) c.763G>A (p.Gly255Arg) c.760G>A (p.Gly254Arg) | |
4 | g.121854709_121854712del | CA3064432 | BBS7 | c.712_715del (p.Arg238GlufsTer?) c.715_718del (p.Arg239GlufsTer?) c.760_763del (p.Arg254GlufsTer?) c.757_760del (p.Arg253GlufsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.121854708T>A | CA358065550 | BBS7 | c.714A>T (p.Arg238Ser) c.717A>T (p.Arg239Ser) c.762A>T (p.Arg254Ser) c.759A>T (p.Arg253Ser) | |
4 | g.121854708T>C | CA440922765 | BBS7 | c.714A>G (p.Arg238=) c.717A>G (p.Arg239=) c.762A>G (p.Arg254=) c.759A>G (p.Arg253=) | gnomAD v4 |
4 | g.121854708T>G | CA358065552 | BBS7 | c.714A>C (p.Arg238Ser) c.717A>C (p.Arg239Ser) c.762A>C (p.Arg254Ser) c.759A>C (p.Arg253Ser) | |
4 | g.121854709C>A | CA358065553 | BBS7 | c.713G>T (p.Arg238Ile) c.716G>T (p.Arg239Ile) c.761G>T (p.Arg254Ile) c.758G>T (p.Arg253Ile) | |
4 | g.121854709C>G | CA358065554 | BBS7 | c.713G>C (p.Arg238Thr) c.716G>C (p.Arg239Thr) c.761G>C (p.Arg254Thr) c.758G>C (p.Arg253Thr) | |
4 | g.121854709C>T | CA358065555 | BBS7 | c.713G>A (p.Arg238Lys) c.716G>A (p.Arg239Lys) c.761G>A (p.Arg254Lys) c.758G>A (p.Arg253Lys) | gnomAD v4 |
4 | g.121854709_121854713delinsCTCTT | CA1490025973 | BBS7 | c.709_713delinsAAGAG (p.Lys237=) c.712_716delinsAAGAG (p.Lys238=) c.757_761delinsAAGAG (p.Lys253=) c.754_758delinsAAGAG (p.Lys252=) | |
4 | g.121854710T>A | CA358065556 | BBS7 | c.712A>T (p.Arg238Ter) c.715A>T (p.Arg239Ter) c.760A>T (p.Arg254Ter) c.757A>T (p.Arg253Ter) | |
4 | g.121854710T>C | CA358065560 | BBS7 | c.712A>G (p.Arg238Gly) c.715A>G (p.Arg239Gly) c.760A>G (p.Arg254Gly) c.757A>G (p.Arg253Gly) | gnomAD v4 |
4 | g.121854710T>G | CA440922768 | BBS7 | c.712A>C (p.Arg238=) c.715A>C (p.Arg239=) c.760A>C (p.Arg254=) c.757A>C (p.Arg253=) | |
4 | g.121854711_121854714del | CA252535 | BBS7 | c.709_712del (p.Lys237GlufsTer?) c.712_715del (p.Lys238GlufsTer?) c.757_760del (p.Lys253GlufsTer?) c.754_757del (p.Lys252GlufsTer?) | ClinVar dbSNP |
4 | g.121854711C>A | CA358065574 | BBS7 | c.711G>T (p.Lys237Asn) c.714G>T (p.Lys238Asn) c.759G>T (p.Lys253Asn) c.756G>T (p.Lys252Asn) | ClinVar |
4 | g.121854711C>G | CA358065573 | BBS7 | c.711G>C (p.Lys237Asn) c.714G>C (p.Lys238Asn) c.759G>C (p.Lys253Asn) c.756G>C (p.Lys252Asn) | |
4 | g.121854711C>T | CA440922769 | BBS7 | c.711G>A (p.Lys237=) c.714G>A (p.Lys238=) c.759G>A (p.Lys253=) c.756G>A (p.Lys252=) | |
4 | g.121854712T>A | CA358065575 | BBS7 | c.710A>T (p.Lys237Met) c.713A>T (p.Lys238Met) c.758A>T (p.Lys253Met) c.755A>T (p.Lys252Met) | |
4 | g.121854712T>C | CA358065576 | BBS7 | c.710A>G (p.Lys237Arg) c.713A>G (p.Lys238Arg) c.758A>G (p.Lys253Arg) c.755A>G (p.Lys252Arg) | dbSNP gnomAD v4 |
4 | g.121854712T>G | CA358065577 | BBS7 | c.710A>C (p.Lys237Thr) c.713A>C (p.Lys238Thr) c.758A>C (p.Lys253Thr) c.755A>C (p.Lys252Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.121854712T= | CA1490025974 | BBS7 | c.710A= (p.Lys237=) c.713A= (p.Lys238=) c.758A= (p.Lys253=) c.755A= (p.Lys252=) | |
4 | g.121854716del | CA2671949186 | BBS7 | c.710del (p.Lys237ArgfsTer?) c.713del (p.Lys238ArgfsTer?) c.758del (p.Lys253ArgfsTer?) c.755del (p.Lys252ArgfsTer?) | gnomAD v4 |
4 | g.121854713T>A | CA358065578 | BBS7 | c.709A>T (p.Lys237Ter) c.712A>T (p.Lys238Ter) c.757A>T (p.Lys253Ter) c.754A>T (p.Lys252Ter) | |
4 | g.121854713T>C | CA358065579 | BBS7 | c.709A>G (p.Lys237Glu) c.712A>G (p.Lys238Glu) c.757A>G (p.Lys253Glu) c.754A>G (p.Lys252Glu) | |
4 | g.121854713T>G | CA358065582 | BBS7 | c.709A>C (p.Lys237Gln) c.712A>C (p.Lys238Gln) c.757A>C (p.Lys253Gln) c.754A>C (p.Lys252Gln) | gnomAD v4 |
4 | g.121854714T>A | CA358065584 | BBS7 | c.708A>T (p.Lys236Asn) c.711A>T (p.Lys237Asn) c.756A>T (p.Lys252Asn) c.753A>T (p.Lys251Asn) | |
4 | g.121854714T>C | CA440922773 | BBS7 | c.708A>G (p.Lys236=) c.711A>G (p.Lys237=) c.756A>G (p.Lys252=) c.753A>G (p.Lys251=) | dbSNP gnomAD v2 |
4 | g.121854714T>G | CA358065587 | BBS7 | c.708A>C (p.Lys236Asn) c.711A>C (p.Lys237Asn) c.756A>C (p.Lys252Asn) c.753A>C (p.Lys251Asn) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.121854714T= | CA1490025975 | BBS7 | c.708A= (p.Lys236=) c.711A= (p.Lys237=) c.756A= (p.Lys252=) c.753A= (p.Lys251=) | |
4 | g.121854715T>A | CA358065591 | BBS7 | c.707A>T (p.Lys236Ile) c.710A>T (p.Lys237Ile) c.755A>T (p.Lys252Ile) c.752A>T (p.Lys251Ile) | |
4 | g.121854715T>C | CA358065595 | BBS7 | c.707A>G (p.Lys236Arg) c.710A>G (p.Lys237Arg) c.755A>G (p.Lys252Arg) c.752A>G (p.Lys251Arg) | |
4 | g.121854715T>G | CA358065606 | BBS7 | c.707A>C (p.Lys236Thr) c.710A>C (p.Lys237Thr) c.755A>C (p.Lys252Thr) c.752A>C (p.Lys251Thr) | |
4 | g.121854716T>A | CA358065612 | BBS7 | c.706A>T (p.Lys236Ter) c.709A>T (p.Lys237Ter) c.754A>T (p.Lys252Ter) c.751A>T (p.Lys251Ter) | |
4 | g.121854716T>C | CA358065613 | BBS7 | c.706A>G (p.Lys236Glu) c.709A>G (p.Lys237Glu) c.754A>G (p.Lys252Glu) c.751A>G (p.Lys251Glu) | |
4 | g.121854716T>G | CA358065614 | BBS7 | c.706A>C (p.Lys236Gln) c.709A>C (p.Lys237Gln) c.754A>C (p.Lys252Gln) c.751A>C (p.Lys251Gln) | |
4 | g.121854717C>A | CA358065615 | BBS7 | c.705G>T (p.Glu235Asp) c.708G>T (p.Glu236Asp) c.753G>T (p.Glu251Asp) c.750G>T (p.Glu250Asp) | |
4 | g.121854717C>G | CA358065616 | BBS7 | c.705G>C (p.Glu235Asp) c.708G>C (p.Glu236Asp) c.753G>C (p.Glu251Asp) c.750G>C (p.Glu250Asp) | |
4 | g.121854717C>T | CA440922775 | BBS7 | c.705G>A (p.Glu235=) c.708G>A (p.Glu236=) c.753G>A (p.Glu251=) c.750G>A (p.Glu250=) | |
4 | g.121854718T>A | CA358065620 | BBS7 | c.704A>T (p.Glu235Val) c.707A>T (p.Glu236Val) c.752A>T (p.Glu251Val) c.749A>T (p.Glu250Val) | |
4 | g.121854718T>C | CA358065639 | BBS7 | c.704A>G (p.Glu235Gly) c.707A>G (p.Glu236Gly) c.752A>G (p.Glu251Gly) c.749A>G (p.Glu250Gly) | |
4 | g.121854718T>G | CA358065636 | BBS7 | c.704A>C (p.Glu235Ala) c.707A>C (p.Glu236Ala) c.752A>C (p.Glu251Ala) c.749A>C (p.Glu250Ala) | |
4 | g.121854719C>A | CA358065641 | BBS7 | c.703G>T (p.Glu235Ter) c.706G>T (p.Glu236Ter) c.751G>T (p.Glu251Ter) c.748G>T (p.Glu250Ter) | |
4 | g.121854719C>G | CA358065646 | BBS7 | c.703G>C (p.Glu235Gln) c.706G>C (p.Glu236Gln) c.751G>C (p.Glu251Gln) c.748G>C (p.Glu250Gln) | |
4 | g.121854719C>T | CA358065643 | BBS7 | c.703G>A (p.Glu235Lys) c.706G>A (p.Glu236Lys) c.751G>A (p.Glu251Lys) c.748G>A (p.Glu250Lys) | |
4 | g.121854720A= | CA1490025976 | BBS7 | c.702T= (p.Asn234=) c.705T= (p.Asn235=) c.750T= (p.Asn250=) c.747T= (p.Asn249=) | |
4 | g.121854720A>C | CA358065651 | BBS7 | c.702T>G (p.Asn234Lys) c.705T>G (p.Asn235Lys) c.750T>G (p.Asn250Lys) c.747T>G (p.Asn249Lys) | gnomAD v4 |
4 | g.121854720A>G | CA440922776 | BBS7 | c.702T>C (p.Asn234=) c.705T>C (p.Asn235=) c.750T>C (p.Asn250=) c.747T>C (p.Asn249=) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.121854720A>T | CA358065653 | BBS7 | c.702T>A (p.Asn234Lys) c.705T>A (p.Asn235Lys) c.750T>A (p.Asn250Lys) c.747T>A (p.Asn249Lys) | |
4 | g.121854721T>A | CA358065656 | BBS7 | c.701A>T (p.Asn234Ile) c.704A>T (p.Asn235Ile) c.749A>T (p.Asn250Ile) c.746A>T (p.Asn249Ile) | |
4 | g.121854721T>C | CA358065659 | BBS7 | c.701A>G (p.Asn234Ser) c.704A>G (p.Asn235Ser) c.749A>G (p.Asn250Ser) c.746A>G (p.Asn249Ser) | |
4 | g.121854721T>G | CA358065662 | BBS7 | c.701A>C (p.Asn234Thr) c.704A>C (p.Asn235Thr) c.749A>C (p.Asn250Thr) c.746A>C (p.Asn249Thr) | |
4 | g.121854722T>A | CA358065664 | BBS7 | c.700A>T (p.Asn234Tyr) c.703A>T (p.Asn235Tyr) c.748A>T (p.Asn250Tyr) c.745A>T (p.Asn249Tyr) | |
4 | g.121854722T>C | CA358065666 | BBS7 | c.700A>G (p.Asn234Asp) c.703A>G (p.Asn235Asp) c.748A>G (p.Asn250Asp) c.745A>G (p.Asn249Asp) | |
4 | g.121854722T>G | CA358065667 | BBS7 | c.700A>C (p.Asn234His) c.703A>C (p.Asn235His) c.748A>C (p.Asn250His) c.745A>C (p.Asn249His) |