Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.6474657_6474672del | CA998179084 | PLEKHG5 | c.303-76_303-61del (n.303-76_303-61del) c.477-76_477-61del (n.477-76_477-61del) c.414-76_414-61del (n.414-76_414-61del) n.703_718del c.510-76_510-61del (n.510-76_510-61del) c.600-76_600-61del (n.600-76_600-61del) c.*515-76_*515-61del (n.*515-76_*515-61del) c.*131-76_*131-61del (n.*131-76_*131-61del) c.264+34_264+49del (n.264+34_264+49del) c.534-76_534-61del (n.534-76_534-61del) c.471-76_471-61del (n.471-76_471-61del) c.540-76_540-61del (n.540-76_540-61del) | gnomAD v3 gnomAD v4 |
1 | g.6474651_6474652delinsCG | CA1151507213 | PLEKHG5 | c.303-65_303-64delinsCG (n.303-65_303-64delinsCG) c.477-65_477-64delinsCG (n.477-65_477-64delinsCG) c.414-65_414-64delinsCG (n.414-65_414-64delinsCG) n.714_715delinsCG c.510-65_510-64delinsCG (n.510-65_510-64delinsCG) c.600-65_600-64delinsCG (n.600-65_600-64delinsCG) c.*515-65_*515-64delinsCG (n.*515-65_*515-64delinsCG) c.*131-65_*131-64delinsCG (n.*131-65_*131-64delinsCG) c.264+45_264+46delinsCG (n.264+45_264+46delinsCG) c.534-65_534-64delinsCG (n.534-65_534-64delinsCG) c.471-65_471-64delinsCG (n.471-65_471-64delinsCG) c.540-65_540-64delinsCG (n.540-65_540-64delinsCG) | |
1 | g.6474652del | CA520766031 | PLEKHG5 | c.303-65del (n.303-65del) c.477-65del (n.477-65del) c.414-65del (n.414-65del) n.714del c.510-65del (n.510-65del) c.600-65del (n.600-65del) c.*515-65del (n.*515-65del) c.*131-65del (n.*131-65del) c.264+45del (n.264+45del) c.534-65del (n.534-65del) c.471-65del (n.471-65del) c.540-65del (n.540-65del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474652G>A | CA520766029 | PLEKHG5 | c.303-65C>T (n.303-65C>T) c.477-65C>T (n.477-65C>T) c.414-65C>T (n.414-65C>T) n.714C>T c.510-65C>T (n.510-65C>T) c.600-65C>T (n.600-65C>T) c.*515-65C>T (n.*515-65C>T) c.*131-65C>T (n.*131-65C>T) c.264+45C>T (n.264+45C>T) c.534-65C>T (n.534-65C>T) c.471-65C>T (n.471-65C>T) c.540-65C>T (n.540-65C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474652G>C | CA17243959 | PLEKHG5 | c.303-65C>G (n.303-65C>G) c.477-65C>G (n.477-65C>G) c.414-65C>G (n.414-65C>G) n.714C>G c.510-65C>G (n.510-65C>G) c.600-65C>G (n.600-65C>G) c.*515-65C>G (n.*515-65C>G) c.*131-65C>G (n.*131-65C>G) c.264+45C>G (n.264+45C>G) c.534-65C>G (n.534-65C>G) c.471-65C>G (n.471-65C>G) c.540-65C>G (n.540-65C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474652G= | CA1151507219 | PLEKHG5 | c.303-65C= (n.303-65C=) c.477-65C= (n.477-65C=) c.414-65C= (n.414-65C=) n.714C= c.510-65C= (n.510-65C=) c.600-65C= (n.600-65C=) c.*515-65C= (n.*515-65C=) c.*131-65C= (n.*131-65C=) c.264+45C= (n.264+45C=) c.534-65C= (n.534-65C=) c.471-65C= (n.471-65C=) c.540-65C= (n.540-65C=) | |
1 | g.6474652G>T | CA998179104 | PLEKHG5 | c.303-65C>A (n.303-65C>A) c.477-65C>A (n.477-65C>A) c.414-65C>A (n.414-65C>A) n.714C>A c.510-65C>A (n.510-65C>A) c.600-65C>A (n.600-65C>A) c.*515-65C>A (n.*515-65C>A) c.*131-65C>A (n.*131-65C>A) c.264+45C>A (n.264+45C>A) c.534-65C>A (n.534-65C>A) c.471-65C>A (n.471-65C>A) c.540-65C>A (n.540-65C>A) | gnomAD v3 gnomAD v4 |
1 | g.6474652_6474662del | CA998179099 | PLEKHG5 | c.303-75_303-65del (n.303-75_303-65del) c.477-75_477-65del (n.477-75_477-65del) c.414-75_414-65del (n.414-75_414-65del) n.704_714del c.510-75_510-65del (n.510-75_510-65del) c.600-75_600-65del (n.600-75_600-65del) c.*515-75_*515-65del (n.*515-75_*515-65del) c.*131-75_*131-65del (n.*131-75_*131-65del) c.264+35_264+45del (n.264+35_264+45del) c.534-75_534-65del (n.534-75_534-65del) c.471-75_471-65del (n.471-75_471-65del) c.540-75_540-65del (n.540-75_540-65del) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.6474660_6474696del | CA2642979433 | PLEKHG5 | c.303-101_303-65del (n.303-101_303-65del) c.477-101_477-65del (n.477-101_477-65del) c.414-101_414-65del (n.414-101_414-65del) n.678_714del c.510-101_510-65del (n.510-101_510-65del) c.600-101_600-65del (n.600-101_600-65del) c.*515-101_*515-65del (n.*515-101_*515-65del) c.*131-101_*131-65del (n.*131-101_*131-65del) c.264+9_264+45del (n.264+9_264+45del) c.534-101_534-65del (n.534-101_534-65del) c.471-101_471-65del (n.471-101_471-65del) c.540-101_540-65del (n.540-101_540-65del) | gnomAD v4 |
1 | g.6474652_6474653insGCC | CA2742323562 | PLEKHG5 | c.303-66_303-65insGGC (n.303-66_303-65insGGC) c.477-66_477-65insGGC (n.477-66_477-65insGGC) c.414-66_414-65insGGC (n.414-66_414-65insGGC) n.713_714insGGC c.510-66_510-65insGGC (n.510-66_510-65insGGC) c.600-66_600-65insGGC (n.600-66_600-65insGGC) c.*515-66_*515-65insGGC (n.*515-66_*515-65insGGC) c.*131-66_*131-65insGGC (n.*131-66_*131-65insGGC) c.264+44_264+45insGGC (n.264+44_264+45insGGC) c.534-66_534-65insGGC (n.534-66_534-65insGGC) c.471-66_471-65insGGC (n.471-66_471-65insGGC) c.540-66_540-65insGGC (n.540-66_540-65insGGC) | |
1 | g.6474653C>T | CA2642979485 | PLEKHG5 | c.303-66G>A (n.303-66G>A) c.477-66G>A (n.477-66G>A) c.414-66G>A (n.414-66G>A) n.713G>A c.510-66G>A (n.510-66G>A) c.600-66G>A (n.600-66G>A) c.*515-66G>A (n.*515-66G>A) c.*131-66G>A (n.*131-66G>A) c.264+44G>A (n.264+44G>A) c.534-66G>A (n.534-66G>A) c.471-66G>A (n.471-66G>A) c.540-66G>A (n.540-66G>A) | gnomAD v4 |
1 | g.6474657_6474658insCCCCCCCCCCCC | CA2642979479 | PLEKHG5 | c.303-66_303-65insGGGGGGGGGGGG (n.303-66_303-65insGGGGGGGGGGGG) c.477-66_477-65insGGGGGGGGGGGG (n.477-66_477-65insGGGGGGGGGGGG) c.414-66_414-65insGGGGGGGGGGGG (n.414-66_414-65insGGGGGGGGGGGG) n.713_714insGGGGGGGGGGGG c.510-66_510-65insGGGGGGGGGGGG (n.510-66_510-65insGGGGGGGGGGGG) c.600-66_600-65insGGGGGGGGGGGG (n.600-66_600-65insGGGGGGGGGGGG) c.*515-66_*515-65insGGGGGGGGGGGG (n.*515-66_*515-65insGGGGGGGGGGGG) c.*131-66_*131-65insGGGGGGGGGGGG (n.*131-66_*131-65insGGGGGGGGGGGG) c.264+44_264+45insGGGGGGGGGGGG (n.264+44_264+45insGGGGGGGGGGGG) c.534-66_534-65insGGGGGGGGGGGG (n.534-66_534-65insGGGGGGGGGGGG) c.471-66_471-65insGGGGGGGGGGGG (n.471-66_471-65insGGGGGGGGGGGG) c.540-66_540-65insGGGGGGGGGGGG (n.540-66_540-65insGGGGGGGGGGGG) | gnomAD v4 |
1 | g.6474657dup | CA998179128 | PLEKHG5 | c.303-66dup (n.303-66dup) c.477-66dup (n.477-66dup) c.414-66dup (n.414-66dup) n.713dup c.510-66dup (n.510-66dup) c.600-66dup (n.600-66dup) c.*515-66dup (n.*515-66dup) c.*131-66dup (n.*131-66dup) c.264+44dup (n.264+44dup) c.534-66dup (n.534-66dup) c.471-66dup (n.471-66dup) c.540-66dup (n.540-66dup) | gnomAD v3 gnomAD v4 |
1 | g.6474655_6474657dup | CA2642979446 | PLEKHG5 | c.303-68_303-66dup (n.303-68_303-66dup) c.477-68_477-66dup (n.477-68_477-66dup) c.414-68_414-66dup (n.414-68_414-66dup) n.711_713dup c.510-68_510-66dup (n.510-68_510-66dup) c.600-68_600-66dup (n.600-68_600-66dup) c.*515-68_*515-66dup (n.*515-68_*515-66dup) c.*131-68_*131-66dup (n.*131-68_*131-66dup) c.264+42_264+44dup (n.264+42_264+44dup) c.534-68_534-66dup (n.534-68_534-66dup) c.471-68_471-66dup (n.471-68_471-66dup) c.540-68_540-66dup (n.540-68_540-66dup) | gnomAD v4 |
1 | g.6474654_6474657dup | CA2642979452 | PLEKHG5 | c.303-69_303-66dup (n.303-69_303-66dup) c.477-69_477-66dup (n.477-69_477-66dup) c.414-69_414-66dup (n.414-69_414-66dup) n.710_713dup c.510-69_510-66dup (n.510-69_510-66dup) c.600-69_600-66dup (n.600-69_600-66dup) c.*515-69_*515-66dup (n.*515-69_*515-66dup) c.*131-69_*131-66dup (n.*131-69_*131-66dup) c.264+41_264+44dup (n.264+41_264+44dup) c.534-69_534-66dup (n.534-69_534-66dup) c.471-69_471-66dup (n.471-69_471-66dup) c.540-69_540-66dup (n.540-69_540-66dup) | gnomAD v4 |
1 | g.6474657del | CA2642979480 | PLEKHG5 | c.303-66del (n.303-66del) c.477-66del (n.477-66del) c.414-66del (n.414-66del) n.713del c.510-66del (n.510-66del) c.600-66del (n.600-66del) c.*515-66del (n.*515-66del) c.*131-66del (n.*131-66del) c.264+44del (n.264+44del) c.534-66del (n.534-66del) c.471-66del (n.471-66del) c.540-66del (n.540-66del) | gnomAD v4 |
1 | g.6474659_6474660insCAGCCCCCCCCCCCCCCCCCACCCCCAC | CA2642979477 | PLEKHG5 | c.303-66_303-65insTGGGGGGGGGGGGGGGGGCTGGTGGGGG (n.303-66_303-65insTGGGGGGGGGGGGGGGGGCTGGTGGGGG) c.477-66_477-65insTGGGGGGGGGGGGGGGGGCTGGTGGGGG (n.477-66_477-65insTGGGGGGGGGGGGGGGGGCTGGTGGGGG) c.414-66_414-65insTGGGGGGGGGGGGGGGGGCTGGTGGGGG (n.414-66_414-65insTGGGGGGGGGGGGGGGGGCTGGTGGGGG) n.713_714insTGGGGGGGGGGGGGGGGGCTGGTGGGGG c.510-66_510-65insTGGGGGGGGGGGGGGGGGCTGGTGGGGG (n.510-66_510-65insTGGGGGGGGGGGGGGGGGCTGGTGGGGG) c.600-66_600-65insTGGGGGGGGGGGGGGGGGCTGGTGGGGG (n.600-66_600-65insTGGGGGGGGGGGGGGGGGCTGGTGGGGG) c.*515-66_*515-65insTGGGGGGGGGGGGGGGGGCTGGTGGGGG (n.*515-66_*515-65insTGGGGGGGGGGGGGGGGGCTGGTGGGGG) c.*131-66_*131-65insTGGGGGGGGGGGGGGGGGCTGGTGGGGG (n.*131-66_*131-65insTGGGGGGGGGGGGGGGGGCTGGTGGGGG) c.264+44_264+45insTGGGGGGGGGGGGGGGGGCTGGTGGGGG (n.264+44_264+45insTGGGGGGGGGGGGGGGGGCTGGTGGGGG) c.534-66_534-65insTGGGGGGGGGGGGGGGGGCTGGTGGGGG (n.534-66_534-65insTGGGGGGGGGGGGGGGGGCTGGTGGGGG) c.471-66_471-65insTGGGGGGGGGGGGGGGGGCTGGTGGGGG (n.471-66_471-65insTGGGGGGGGGGGGGGGGGCTGGTGGGGG) c.540-66_540-65insTGGGGGGGGGGGGGGGGGCTGGTGGGGG (n.540-66_540-65insTGGGGGGGGGGGGGGGGGCTGGTGGGGG) | gnomAD v4 |
1 | g.6474657_6474658insCCCACCCCCCCCCCCCCCCCCCCCCACCCC | CA2642979494 | PLEKHG5 | c.303-67_303-66insTGGGGGGGGGGGGGGGGGGGGGTGGGGGGG (n.303-67_303-66insTGGGGGGGGGGGGGGGGGGGGGTGGGGGGG) c.477-67_477-66insTGGGGGGGGGGGGGGGGGGGGGTGGGGGGG (n.477-67_477-66insTGGGGGGGGGGGGGGGGGGGGGTGGGGGGG) c.414-67_414-66insTGGGGGGGGGGGGGGGGGGGGGTGGGGGGG (n.414-67_414-66insTGGGGGGGGGGGGGGGGGGGGGTGGGGGGG) n.712_713insTGGGGGGGGGGGGGGGGGGGGGTGGGGGGG c.510-67_510-66insTGGGGGGGGGGGGGGGGGGGGGTGGGGGGG (n.510-67_510-66insTGGGGGGGGGGGGGGGGGGGGGTGGGGGGG) c.600-67_600-66insTGGGGGGGGGGGGGGGGGGGGGTGGGGGGG (n.600-67_600-66insTGGGGGGGGGGGGGGGGGGGGGTGGGGGGG) c.*515-67_*515-66insTGGGGGGGGGGGGGGGGGGGGGTGGGGGGG (n.*515-67_*515-66insTGGGGGGGGGGGGGGGGGGGGGTGGGGGGG) c.*131-67_*131-66insTGGGGGGGGGGGGGGGGGGGGGTGGGGGGG (n.*131-67_*131-66insTGGGGGGGGGGGGGGGGGGGGGTGGGGGGG) c.264+43_264+44insTGGGGGGGGGGGGGGGGGGGGGTGGGGGGG (n.264+43_264+44insTGGGGGGGGGGGGGGGGGGGGGTGGGGGGG) c.534-67_534-66insTGGGGGGGGGGGGGGGGGGGGGTGGGGGGG (n.534-67_534-66insTGGGGGGGGGGGGGGGGGGGGGTGGGGGGG) c.471-67_471-66insTGGGGGGGGGGGGGGGGGGGGGTGGGGGGG (n.471-67_471-66insTGGGGGGGGGGGGGGGGGGGGGTGGGGGGG) c.540-67_540-66insTGGGGGGGGGGGGGGGGGGGGGTGGGGGGG (n.540-67_540-66insTGGGGGGGGGGGGGGGGGGGGGTGGGGGGG) | gnomAD v4 |
1 | g.6474657_6474658insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCAACCCC | CA2642979495 | PLEKHG5 | c.303-67_303-66insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.303-67_303-66insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.477-67_477-66insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.477-67_477-66insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.414-67_414-66insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.414-67_414-66insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.712_713insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.510-67_510-66insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.510-67_510-66insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.600-67_600-66insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.600-67_600-66insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*515-67_*515-66insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*515-67_*515-66insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*131-67_*131-66insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*131-67_*131-66insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.264+43_264+44insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.264+43_264+44insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.534-67_534-66insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.534-67_534-66insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.471-67_471-66insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.471-67_471-66insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.540-67_540-66insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.540-67_540-66insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
1 | g.6474655C>A | CA2574193695 | PLEKHG5 | c.303-68G>T (n.303-68G>T) c.477-68G>T (n.477-68G>T) c.414-68G>T (n.414-68G>T) n.711G>T c.510-68G>T (n.510-68G>T) c.600-68G>T (n.600-68G>T) c.*515-68G>T (n.*515-68G>T) c.*131-68G>T (n.*131-68G>T) c.264+42G>T (n.264+42G>T) c.534-68G>T (n.534-68G>T) c.471-68G>T (n.471-68G>T) c.540-68G>T (n.540-68G>T) | |
1 | g.6474655C>T | CA2642979499 | PLEKHG5 | c.303-68G>A (n.303-68G>A) c.477-68G>A (n.477-68G>A) c.414-68G>A (n.414-68G>A) n.711G>A c.510-68G>A (n.510-68G>A) c.600-68G>A (n.600-68G>A) c.*515-68G>A (n.*515-68G>A) c.*131-68G>A (n.*131-68G>A) c.264+42G>A (n.264+42G>A) c.534-68G>A (n.534-68G>A) c.471-68G>A (n.471-68G>A) c.540-68G>A (n.540-68G>A) | gnomAD v4 |
1 | g.6474656C>A | CA2559684544 | PLEKHG5 | c.303-69G>T (n.303-69G>T) c.477-69G>T (n.477-69G>T) c.414-69G>T (n.414-69G>T) n.710G>T c.510-69G>T (n.510-69G>T) c.600-69G>T (n.600-69G>T) c.*515-69G>T (n.*515-69G>T) c.*131-69G>T (n.*131-69G>T) c.264+41G>T (n.264+41G>T) c.534-69G>T (n.534-69G>T) c.471-69G>T (n.471-69G>T) c.540-69G>T (n.540-69G>T) | |
1 | g.6474656C= | CA1151507244 | PLEKHG5 | c.303-69G= (n.303-69G=) c.477-69G= (n.477-69G=) c.414-69G= (n.414-69G=) n.710G= c.510-69G= (n.510-69G=) c.600-69G= (n.600-69G=) c.*515-69G= (n.*515-69G=) c.*131-69G= (n.*131-69G=) c.264+41G= (n.264+41G=) c.534-69G= (n.534-69G=) c.471-69G= (n.471-69G=) c.540-69G= (n.540-69G=) | |
1 | g.6474656C>G | CA998179132 | PLEKHG5 | c.303-69G>C (n.303-69G>C) c.477-69G>C (n.477-69G>C) c.414-69G>C (n.414-69G>C) n.710G>C c.510-69G>C (n.510-69G>C) c.600-69G>C (n.600-69G>C) c.*515-69G>C (n.*515-69G>C) c.*131-69G>C (n.*131-69G>C) c.264+41G>C (n.264+41G>C) c.534-69G>C (n.534-69G>C) c.471-69G>C (n.471-69G>C) c.540-69G>C (n.540-69G>C) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.6474658_6474664del | CA2642979504 | PLEKHG5 | c.303-75_303-69del (n.303-75_303-69del) c.477-75_477-69del (n.477-75_477-69del) c.414-75_414-69del (n.414-75_414-69del) n.704_710del c.510-75_510-69del (n.510-75_510-69del) c.600-75_600-69del (n.600-75_600-69del) c.*515-75_*515-69del (n.*515-75_*515-69del) c.*131-75_*131-69del (n.*131-75_*131-69del) c.264+35_264+41del (n.264+35_264+41del) c.534-75_534-69del (n.534-75_534-69del) c.471-75_471-69del (n.471-75_471-69del) c.540-75_540-69del (n.540-75_540-69del) | gnomAD v4 |
1 | g.6474657C>A | CA2574193699 | PLEKHG5 | c.303-70G>T (n.303-70G>T) c.477-70G>T (n.477-70G>T) c.414-70G>T (n.414-70G>T) n.709G>T c.510-70G>T (n.510-70G>T) c.600-70G>T (n.600-70G>T) c.*515-70G>T (n.*515-70G>T) c.*131-70G>T (n.*131-70G>T) c.264+40G>T (n.264+40G>T) c.534-70G>T (n.534-70G>T) c.471-70G>T (n.471-70G>T) c.540-70G>T (n.540-70G>T) | gnomAD v4 |
1 | g.6474657C= | CA1151507251 | PLEKHG5 | c.303-70G= (n.303-70G=) c.477-70G= (n.477-70G=) c.414-70G= (n.414-70G=) n.709G= c.510-70G= (n.510-70G=) c.600-70G= (n.600-70G=) c.*515-70G= (n.*515-70G=) c.*131-70G= (n.*131-70G=) c.264+40G= (n.264+40G=) c.534-70G= (n.534-70G=) c.471-70G= (n.471-70G=) c.540-70G= (n.540-70G=) | |
1 | g.6474657C>G | CA2642979513 | PLEKHG5 | c.303-70G>C (n.303-70G>C) c.477-70G>C (n.477-70G>C) c.414-70G>C (n.414-70G>C) n.709G>C c.510-70G>C (n.510-70G>C) c.600-70G>C (n.600-70G>C) c.*515-70G>C (n.*515-70G>C) c.*131-70G>C (n.*131-70G>C) c.264+40G>C (n.264+40G>C) c.534-70G>C (n.534-70G>C) c.471-70G>C (n.471-70G>C) c.540-70G>C (n.540-70G>C) | gnomAD v4 |
1 | g.6474657C>T | CA1151507252 | PLEKHG5 | c.303-70G>A (n.303-70G>A) c.477-70G>A (n.477-70G>A) c.414-70G>A (n.414-70G>A) n.709G>A c.510-70G>A (n.510-70G>A) c.600-70G>A (n.600-70G>A) c.*515-70G>A (n.*515-70G>A) c.*131-70G>A (n.*131-70G>A) c.264+40G>A (n.264+40G>A) c.534-70G>A (n.534-70G>A) c.471-70G>A (n.471-70G>A) c.540-70G>A (n.540-70G>A) | dbSNP |
1 | g.6474657_6474662delinsCACGAG | CA1151507249 | PLEKHG5 | c.303-75_303-70delinsCTCGTG (n.303-75_303-70delinsCTCGTG) c.477-75_477-70delinsCTCGTG (n.477-75_477-70delinsCTCGTG) c.414-75_414-70delinsCTCGTG (n.414-75_414-70delinsCTCGTG) n.704_709delinsCTCGTG c.510-75_510-70delinsCTCGTG (n.510-75_510-70delinsCTCGTG) c.600-75_600-70delinsCTCGTG (n.600-75_600-70delinsCTCGTG) c.*515-75_*515-70delinsCTCGTG (n.*515-75_*515-70delinsCTCGTG) c.*131-75_*131-70delinsCTCGTG (n.*131-75_*131-70delinsCTCGTG) c.264+35_264+40delinsCTCGTG (n.264+35_264+40delinsCTCGTG) c.534-75_534-70delinsCTCGTG (n.534-75_534-70delinsCTCGTG) c.471-75_471-70delinsCTCGTG (n.471-75_471-70delinsCTCGTG) c.540-75_540-70delinsCTCGTG (n.540-75_540-70delinsCTCGTG) | |
1 | g.6474658_6474663del | CA998179146 | PLEKHG5 | c.303-75_303-70del (n.303-75_303-70del) c.477-75_477-70del (n.477-75_477-70del) c.414-75_414-70del (n.414-75_414-70del) n.704_709del c.510-75_510-70del (n.510-75_510-70del) c.600-75_600-70del (n.600-75_600-70del) c.*515-75_*515-70del (n.*515-75_*515-70del) c.*131-75_*131-70del (n.*131-75_*131-70del) c.264+35_264+40del (n.264+35_264+40del) c.534-75_534-70del (n.534-75_534-70del) c.471-75_471-70del (n.471-75_471-70del) c.540-75_540-70del (n.540-75_540-70del) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.6474657_6474658insCCCA | CA998179148 | PLEKHG5 | c.303-71_303-70insTGGG (n.303-71_303-70insTGGG) c.477-71_477-70insTGGG (n.477-71_477-70insTGGG) c.414-71_414-70insTGGG (n.414-71_414-70insTGGG) n.708_709insTGGG c.510-71_510-70insTGGG (n.510-71_510-70insTGGG) c.600-71_600-70insTGGG (n.600-71_600-70insTGGG) c.*515-71_*515-70insTGGG (n.*515-71_*515-70insTGGG) c.*131-71_*131-70insTGGG (n.*131-71_*131-70insTGGG) c.264+39_264+40insTGGG (n.264+39_264+40insTGGG) c.534-71_534-70insTGGG (n.534-71_534-70insTGGG) c.471-71_471-70insTGGG (n.471-71_471-70insTGGG) c.540-71_540-70insTGGG (n.540-71_540-70insTGGG) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.6474657_6474658insCCCCACCCCCCCCCCCCCCCCCA | CA2642979528 | PLEKHG5 | c.303-71_303-70insTGGGGGGGGGGGGGGGGGTGGGG (n.303-71_303-70insTGGGGGGGGGGGGGGGGGTGGGG) c.477-71_477-70insTGGGGGGGGGGGGGGGGGTGGGG (n.477-71_477-70insTGGGGGGGGGGGGGGGGGTGGGG) c.414-71_414-70insTGGGGGGGGGGGGGGGGGTGGGG (n.414-71_414-70insTGGGGGGGGGGGGGGGGGTGGGG) n.708_709insTGGGGGGGGGGGGGGGGGTGGGG c.510-71_510-70insTGGGGGGGGGGGGGGGGGTGGGG (n.510-71_510-70insTGGGGGGGGGGGGGGGGGTGGGG) c.600-71_600-70insTGGGGGGGGGGGGGGGGGTGGGG (n.600-71_600-70insTGGGGGGGGGGGGGGGGGTGGGG) c.*515-71_*515-70insTGGGGGGGGGGGGGGGGGTGGGG (n.*515-71_*515-70insTGGGGGGGGGGGGGGGGGTGGGG) c.*131-71_*131-70insTGGGGGGGGGGGGGGGGGTGGGG (n.*131-71_*131-70insTGGGGGGGGGGGGGGGGGTGGGG) c.264+39_264+40insTGGGGGGGGGGGGGGGGGTGGGG (n.264+39_264+40insTGGGGGGGGGGGGGGGGGTGGGG) c.534-71_534-70insTGGGGGGGGGGGGGGGGGTGGGG (n.534-71_534-70insTGGGGGGGGGGGGGGGGGTGGGG) c.471-71_471-70insTGGGGGGGGGGGGGGGGGTGGGG (n.471-71_471-70insTGGGGGGGGGGGGGGGGGTGGGG) c.540-71_540-70insTGGGGGGGGGGGGGGGGGTGGGG (n.540-71_540-70insTGGGGGGGGGGGGGGGGGTGGGG) | gnomAD v4 |
1 | g.6474658A= | CA1151507262 | PLEKHG5 | c.303-71T= (n.303-71T=) c.477-71T= (n.477-71T=) c.414-71T= (n.414-71T=) n.708T= c.510-71T= (n.510-71T=) c.600-71T= (n.600-71T=) c.*515-71T= (n.*515-71T=) c.*131-71T= (n.*131-71T=) c.264+39T= (n.264+39T=) c.534-71T= (n.534-71T=) c.471-71T= (n.471-71T=) c.540-71T= (n.540-71T=) | |
1 | g.6474658A>C | CA17243966 | PLEKHG5 | c.303-71T>G (n.303-71T>G) c.477-71T>G (n.477-71T>G) c.414-71T>G (n.414-71T>G) n.708T>G c.510-71T>G (n.510-71T>G) c.600-71T>G (n.600-71T>G) c.*515-71T>G (n.*515-71T>G) c.*131-71T>G (n.*131-71T>G) c.264+39T>G (n.264+39T>G) c.534-71T>G (n.534-71T>G) c.471-71T>G (n.471-71T>G) c.540-71T>G (n.540-71T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474658A>G | CA1151507265 | PLEKHG5 | c.303-71T>C (n.303-71T>C) c.477-71T>C (n.477-71T>C) c.414-71T>C (n.414-71T>C) n.708T>C c.510-71T>C (n.510-71T>C) c.600-71T>C (n.600-71T>C) c.*515-71T>C (n.*515-71T>C) c.*131-71T>C (n.*131-71T>C) c.264+39T>C (n.264+39T>C) c.534-71T>C (n.534-71T>C) c.471-71T>C (n.471-71T>C) c.540-71T>C (n.540-71T>C) | dbSNP |
1 | g.6474658_6474662del | CA520766032 | PLEKHG5 | c.303-75_303-71del (n.303-75_303-71del) c.477-75_477-71del (n.477-75_477-71del) c.414-75_414-71del (n.414-75_414-71del) n.704_708del c.510-75_510-71del (n.510-75_510-71del) c.600-75_600-71del (n.600-75_600-71del) c.*515-75_*515-71del (n.*515-75_*515-71del) c.*131-75_*131-71del (n.*131-75_*131-71del) c.264+35_264+39del (n.264+35_264+39del) c.534-75_534-71del (n.534-75_534-71del) c.471-75_471-71del (n.471-75_471-71del) c.540-75_540-71del (n.540-75_540-71del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474658_6474668del | CA998179153 | PLEKHG5 | c.303-81_303-71del (n.303-81_303-71del) c.477-81_477-71del (n.477-81_477-71del) c.414-81_414-71del (n.414-81_414-71del) n.698_708del c.510-81_510-71del (n.510-81_510-71del) c.600-81_600-71del (n.600-81_600-71del) c.*515-81_*515-71del (n.*515-81_*515-71del) c.*131-81_*131-71del (n.*131-81_*131-71del) c.264+29_264+39del (n.264+29_264+39del) c.534-81_534-71del (n.534-81_534-71del) c.471-81_471-71del (n.471-81_471-71del) c.540-81_540-71del (n.540-81_540-71del) | gnomAD v3 gnomAD v4 |
1 | g.6474658_6474659insGCCCCCCCCCCCCCCC | CA2642979549 | PLEKHG5 | c.303-72_303-71insGGGGGGGGGGGGGGGC (n.303-72_303-71insGGGGGGGGGGGGGGGC) c.477-72_477-71insGGGGGGGGGGGGGGGC (n.477-72_477-71insGGGGGGGGGGGGGGGC) c.414-72_414-71insGGGGGGGGGGGGGGGC (n.414-72_414-71insGGGGGGGGGGGGGGGC) n.707_708insGGGGGGGGGGGGGGGC c.510-72_510-71insGGGGGGGGGGGGGGGC (n.510-72_510-71insGGGGGGGGGGGGGGGC) c.600-72_600-71insGGGGGGGGGGGGGGGC (n.600-72_600-71insGGGGGGGGGGGGGGGC) c.*515-72_*515-71insGGGGGGGGGGGGGGGC (n.*515-72_*515-71insGGGGGGGGGGGGGGGC) c.*131-72_*131-71insGGGGGGGGGGGGGGGC (n.*131-72_*131-71insGGGGGGGGGGGGGGGC) c.264+38_264+39insGGGGGGGGGGGGGGGC (n.264+38_264+39insGGGGGGGGGGGGGGGC) c.534-72_534-71insGGGGGGGGGGGGGGGC (n.534-72_534-71insGGGGGGGGGGGGGGGC) c.471-72_471-71insGGGGGGGGGGGGGGGC (n.471-72_471-71insGGGGGGGGGGGGGGGC) c.540-72_540-71insGGGGGGGGGGGGGGGC (n.540-72_540-71insGGGGGGGGGGGGGGGC) | gnomAD v4 |
1 | g.6474659C>A | CA2642979546 | PLEKHG5 | c.303-72G>T (n.303-72G>T) c.477-72G>T (n.477-72G>T) c.414-72G>T (n.414-72G>T) n.707G>T c.510-72G>T (n.510-72G>T) c.600-72G>T (n.600-72G>T) c.*515-72G>T (n.*515-72G>T) c.*131-72G>T (n.*131-72G>T) c.264+38G>T (n.264+38G>T) c.534-72G>T (n.534-72G>T) c.471-72G>T (n.471-72G>T) c.540-72G>T (n.540-72G>T) | gnomAD v4 |
1 | g.6474659C= | CA1151507275 | PLEKHG5 | c.303-72G= (n.303-72G=) c.477-72G= (n.477-72G=) c.414-72G= (n.414-72G=) n.707G= c.510-72G= (n.510-72G=) c.600-72G= (n.600-72G=) c.*515-72G= (n.*515-72G=) c.*131-72G= (n.*131-72G=) c.264+38G= (n.264+38G=) c.534-72G= (n.534-72G=) c.471-72G= (n.471-72G=) c.540-72G= (n.540-72G=) | |
1 | g.6474659C>G | CA998179162 | PLEKHG5 | c.303-72G>C (n.303-72G>C) c.477-72G>C (n.477-72G>C) c.414-72G>C (n.414-72G>C) n.707G>C c.510-72G>C (n.510-72G>C) c.600-72G>C (n.600-72G>C) c.*515-72G>C (n.*515-72G>C) c.*131-72G>C (n.*131-72G>C) c.264+38G>C (n.264+38G>C) c.534-72G>C (n.534-72G>C) c.471-72G>C (n.471-72G>C) c.540-72G>C (n.540-72G>C) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.6474659C>T | CA17243970 | PLEKHG5 | c.303-72G>A (n.303-72G>A) c.477-72G>A (n.477-72G>A) c.414-72G>A (n.414-72G>A) n.707G>A c.510-72G>A (n.510-72G>A) c.600-72G>A (n.600-72G>A) c.*515-72G>A (n.*515-72G>A) c.*131-72G>A (n.*131-72G>A) c.264+38G>A (n.264+38G>A) c.534-72G>A (n.534-72G>A) c.471-72G>A (n.471-72G>A) c.540-72G>A (n.540-72G>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.6474659_6474660insCCCCCCCCCCCCCCCCACCCCCCC | CA2642979552 | PLEKHG5 | c.303-72_303-71insGGGGGGTGGGGGGGGGGGGGGGGG (n.303-72_303-71insGGGGGGTGGGGGGGGGGGGGGGGG) c.477-72_477-71insGGGGGGTGGGGGGGGGGGGGGGGG (n.477-72_477-71insGGGGGGTGGGGGGGGGGGGGGGGG) c.414-72_414-71insGGGGGGTGGGGGGGGGGGGGGGGG (n.414-72_414-71insGGGGGGTGGGGGGGGGGGGGGGGG) n.707_708insGGGGGGTGGGGGGGGGGGGGGGGG c.510-72_510-71insGGGGGGTGGGGGGGGGGGGGGGGG (n.510-72_510-71insGGGGGGTGGGGGGGGGGGGGGGGG) c.600-72_600-71insGGGGGGTGGGGGGGGGGGGGGGGG (n.600-72_600-71insGGGGGGTGGGGGGGGGGGGGGGGG) c.*515-72_*515-71insGGGGGGTGGGGGGGGGGGGGGGGG (n.*515-72_*515-71insGGGGGGTGGGGGGGGGGGGGGGGG) c.*131-72_*131-71insGGGGGGTGGGGGGGGGGGGGGGGG (n.*131-72_*131-71insGGGGGGTGGGGGGGGGGGGGGGGG) c.264+38_264+39insGGGGGGTGGGGGGGGGGGGGGGGG (n.264+38_264+39insGGGGGGTGGGGGGGGGGGGGGGGG) c.534-72_534-71insGGGGGGTGGGGGGGGGGGGGGGGG (n.534-72_534-71insGGGGGGTGGGGGGGGGGGGGGGGG) c.471-72_471-71insGGGGGGTGGGGGGGGGGGGGGGGG (n.471-72_471-71insGGGGGGTGGGGGGGGGGGGGGGGG) c.540-72_540-71insGGGGGGTGGGGGGGGGGGGGGGGG (n.540-72_540-71insGGGGGGTGGGGGGGGGGGGGGGGG) | gnomAD v4 |
1 | g.6474659_6474660insCCCCCCCCCCCCCCCCCCCCCCCCC | CA2742323563 | PLEKHG5 | c.303-72_303-71insGGGGGGGGGGGGGGGGGGGGGGGGG (n.303-72_303-71insGGGGGGGGGGGGGGGGGGGGGGGGG) c.477-72_477-71insGGGGGGGGGGGGGGGGGGGGGGGGG (n.477-72_477-71insGGGGGGGGGGGGGGGGGGGGGGGGG) c.414-72_414-71insGGGGGGGGGGGGGGGGGGGGGGGGG (n.414-72_414-71insGGGGGGGGGGGGGGGGGGGGGGGGG) n.707_708insGGGGGGGGGGGGGGGGGGGGGGGGG c.510-72_510-71insGGGGGGGGGGGGGGGGGGGGGGGGG (n.510-72_510-71insGGGGGGGGGGGGGGGGGGGGGGGGG) c.600-72_600-71insGGGGGGGGGGGGGGGGGGGGGGGGG (n.600-72_600-71insGGGGGGGGGGGGGGGGGGGGGGGGG) c.*515-72_*515-71insGGGGGGGGGGGGGGGGGGGGGGGGG (n.*515-72_*515-71insGGGGGGGGGGGGGGGGGGGGGGGGG) c.*131-72_*131-71insGGGGGGGGGGGGGGGGGGGGGGGGG (n.*131-72_*131-71insGGGGGGGGGGGGGGGGGGGGGGGGG) c.264+38_264+39insGGGGGGGGGGGGGGGGGGGGGGGGG (n.264+38_264+39insGGGGGGGGGGGGGGGGGGGGGGGGG) c.534-72_534-71insGGGGGGGGGGGGGGGGGGGGGGGGG (n.534-72_534-71insGGGGGGGGGGGGGGGGGGGGGGGGG) c.471-72_471-71insGGGGGGGGGGGGGGGGGGGGGGGGG (n.471-72_471-71insGGGGGGGGGGGGGGGGGGGGGGGGG) c.540-72_540-71insGGGGGGGGGGGGGGGGGGGGGGGGG (n.540-72_540-71insGGGGGGGGGGGGGGGGGGGGGGGGG) | |
1 | g.6474659_6474660insCCCCCCCCCCCCCCCCCCCCCCCCCCACCCCCCC | CA2642979543 | PLEKHG5 | c.303-72_303-71insGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.303-72_303-71insGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.477-72_477-71insGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.477-72_477-71insGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.414-72_414-71insGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.414-72_414-71insGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.707_708insGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGG c.510-72_510-71insGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.510-72_510-71insGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.600-72_600-71insGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.600-72_600-71insGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*515-72_*515-71insGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*515-72_*515-71insGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*131-72_*131-71insGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*131-72_*131-71insGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.264+38_264+39insGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.264+38_264+39insGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.534-72_534-71insGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.534-72_534-71insGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.471-72_471-71insGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.471-72_471-71insGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.540-72_540-71insGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.540-72_540-71insGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
1 | g.6474659_6474660del | CA998179161 | PLEKHG5 | c.303-73_303-72del (n.303-73_303-72del) c.477-73_477-72del (n.477-73_477-72del) c.414-73_414-72del (n.414-73_414-72del) n.706_707del c.510-73_510-72del (n.510-73_510-72del) c.600-73_600-72del (n.600-73_600-72del) c.*515-73_*515-72del (n.*515-73_*515-72del) c.*131-73_*131-72del (n.*131-73_*131-72del) c.264+37_264+38del (n.264+37_264+38del) c.534-73_534-72del (n.534-73_534-72del) c.471-73_471-72del (n.471-73_471-72del) c.540-73_540-72del (n.540-73_540-72del) | gnomAD v3 gnomAD v4 |
1 | g.6474659_6474660delinsCG | CA1151507271 | PLEKHG5 | c.303-73_303-72delinsCG (n.303-73_303-72delinsCG) c.477-73_477-72delinsCG (n.477-73_477-72delinsCG) c.414-73_414-72delinsCG (n.414-73_414-72delinsCG) n.706_707delinsCG c.510-73_510-72delinsCG (n.510-73_510-72delinsCG) c.600-73_600-72delinsCG (n.600-73_600-72delinsCG) c.*515-73_*515-72delinsCG (n.*515-73_*515-72delinsCG) c.*131-73_*131-72delinsCG (n.*131-73_*131-72delinsCG) c.264+37_264+38delinsCG (n.264+37_264+38delinsCG) c.534-73_534-72delinsCG (n.534-73_534-72delinsCG) c.471-73_471-72delinsCG (n.471-73_471-72delinsCG) c.540-73_540-72delinsCG (n.540-73_540-72delinsCG) | |
1 | g.6474659_6474661delinsCGA | CA1151507269 | PLEKHG5 | c.303-74_303-72delinsTCG (n.303-74_303-72delinsTCG) c.477-74_477-72delinsTCG (n.477-74_477-72delinsTCG) c.414-74_414-72delinsTCG (n.414-74_414-72delinsTCG) n.705_707delinsTCG c.510-74_510-72delinsTCG (n.510-74_510-72delinsTCG) c.600-74_600-72delinsTCG (n.600-74_600-72delinsTCG) c.*515-74_*515-72delinsTCG (n.*515-74_*515-72delinsTCG) c.*131-74_*131-72delinsTCG (n.*131-74_*131-72delinsTCG) c.264+36_264+38delinsTCG (n.264+36_264+38delinsTCG) c.534-74_534-72delinsTCG (n.534-74_534-72delinsTCG) c.471-74_471-72delinsTCG (n.471-74_471-72delinsTCG) c.540-74_540-72delinsTCG (n.540-74_540-72delinsTCG) | |
1 | g.6474659_6474662delinsCGAG | CA1151507268 | PLEKHG5 | c.303-75_303-72delinsCTCG (n.303-75_303-72delinsCTCG) c.477-75_477-72delinsCTCG (n.477-75_477-72delinsCTCG) c.414-75_414-72delinsCTCG (n.414-75_414-72delinsCTCG) n.704_707delinsCTCG c.510-75_510-72delinsCTCG (n.510-75_510-72delinsCTCG) c.600-75_600-72delinsCTCG (n.600-75_600-72delinsCTCG) c.*515-75_*515-72delinsCTCG (n.*515-75_*515-72delinsCTCG) c.*131-75_*131-72delinsCTCG (n.*131-75_*131-72delinsCTCG) c.264+35_264+38delinsCTCG (n.264+35_264+38delinsCTCG) c.534-75_534-72delinsCTCG (n.534-75_534-72delinsCTCG) c.471-75_471-72delinsCTCG (n.471-75_471-72delinsCTCG) c.540-75_540-72delinsCTCG (n.540-75_540-72delinsCTCG) | |
1 | g.6474660del | CA998179166 | PLEKHG5 | c.303-73del (n.303-73del) c.477-73del (n.477-73del) c.414-73del (n.414-73del) n.706del c.510-73del (n.510-73del) c.600-73del (n.600-73del) c.*515-73del (n.*515-73del) c.*131-73del (n.*131-73del) c.264+37del (n.264+37del) c.534-73del (n.534-73del) c.471-73del (n.471-73del) c.540-73del (n.540-73del) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.6474660G>A | CA998179173 | PLEKHG5 | c.303-73C>T (n.303-73C>T) c.477-73C>T (n.477-73C>T) c.414-73C>T (n.414-73C>T) n.706C>T c.510-73C>T (n.510-73C>T) c.600-73C>T (n.600-73C>T) c.*515-73C>T (n.*515-73C>T) c.*131-73C>T (n.*131-73C>T) c.264+37C>T (n.264+37C>T) c.534-73C>T (n.534-73C>T) c.471-73C>T (n.471-73C>T) c.540-73C>T (n.540-73C>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.6474660G>C | CA17243974 | PLEKHG5 | c.303-73C>G (n.303-73C>G) c.477-73C>G (n.477-73C>G) c.414-73C>G (n.414-73C>G) n.706C>G c.510-73C>G (n.510-73C>G) c.600-73C>G (n.600-73C>G) c.*515-73C>G (n.*515-73C>G) c.*131-73C>G (n.*131-73C>G) c.264+37C>G (n.264+37C>G) c.534-73C>G (n.534-73C>G) c.471-73C>G (n.471-73C>G) c.540-73C>G (n.540-73C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474660G= | CA1151507287 | PLEKHG5 | c.303-73C= (n.303-73C=) c.477-73C= (n.477-73C=) c.414-73C= (n.414-73C=) n.706C= c.510-73C= (n.510-73C=) c.600-73C= (n.600-73C=) c.*515-73C= (n.*515-73C=) c.*131-73C= (n.*131-73C=) c.264+37C= (n.264+37C=) c.534-73C= (n.534-73C=) c.471-73C= (n.471-73C=) c.540-73C= (n.540-73C=) | |
1 | g.6474660G>T | CA2642979563 | PLEKHG5 | c.303-73C>A (n.303-73C>A) c.477-73C>A (n.477-73C>A) c.414-73C>A (n.414-73C>A) n.706C>A c.510-73C>A (n.510-73C>A) c.600-73C>A (n.600-73C>A) c.*515-73C>A (n.*515-73C>A) c.*131-73C>A (n.*131-73C>A) c.264+37C>A (n.264+37C>A) c.534-73C>A (n.534-73C>A) c.471-73C>A (n.471-73C>A) c.540-73C>A (n.540-73C>A) | gnomAD v4 |
1 | g.6474660_6474662del | CA520766033 | PLEKHG5 | c.303-75_303-73del (n.303-75_303-73del) c.477-75_477-73del (n.477-75_477-73del) c.414-75_414-73del (n.414-75_414-73del) n.704_706del c.510-75_510-73del (n.510-75_510-73del) c.600-75_600-73del (n.600-75_600-73del) c.*515-75_*515-73del (n.*515-75_*515-73del) c.*131-75_*131-73del (n.*131-75_*131-73del) c.264+35_264+37del (n.264+35_264+37del) c.534-75_534-73del (n.534-75_534-73del) c.471-75_471-73del (n.471-75_471-73del) c.540-75_540-73del (n.540-75_540-73del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474661_6474662del | CA1151507281 | PLEKHG5 | c.303-74_303-73del (n.303-74_303-73del) c.477-74_477-73del (n.477-74_477-73del) c.414-74_414-73del (n.414-74_414-73del) n.705_706del c.510-74_510-73del (n.510-74_510-73del) c.600-74_600-73del (n.600-74_600-73del) c.*515-74_*515-73del (n.*515-74_*515-73del) c.*131-74_*131-73del (n.*131-74_*131-73del) c.264+36_264+37del (n.264+36_264+37del) c.534-74_534-73del (n.534-74_534-73del) c.471-74_471-73del (n.471-74_471-73del) c.540-74_540-73del (n.540-74_540-73del) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.6474660_6474661insCCCCCCCCCCCCCCCC | CA2642979573 | PLEKHG5 | c.303-74_303-73insGGGGGGGGGGGGGGGG (n.303-74_303-73insGGGGGGGGGGGGGGGG) c.477-74_477-73insGGGGGGGGGGGGGGGG (n.477-74_477-73insGGGGGGGGGGGGGGGG) c.414-74_414-73insGGGGGGGGGGGGGGGG (n.414-74_414-73insGGGGGGGGGGGGGGGG) n.705_706insGGGGGGGGGGGGGGGG c.510-74_510-73insGGGGGGGGGGGGGGGG (n.510-74_510-73insGGGGGGGGGGGGGGGG) c.600-74_600-73insGGGGGGGGGGGGGGGG (n.600-74_600-73insGGGGGGGGGGGGGGGG) c.*515-74_*515-73insGGGGGGGGGGGGGGGG (n.*515-74_*515-73insGGGGGGGGGGGGGGGG) c.*131-74_*131-73insGGGGGGGGGGGGGGGG (n.*131-74_*131-73insGGGGGGGGGGGGGGGG) c.264+36_264+37insGGGGGGGGGGGGGGGG (n.264+36_264+37insGGGGGGGGGGGGGGGG) c.534-74_534-73insGGGGGGGGGGGGGGGG (n.534-74_534-73insGGGGGGGGGGGGGGGG) c.471-74_471-73insGGGGGGGGGGGGGGGG (n.471-74_471-73insGGGGGGGGGGGGGGGG) c.540-74_540-73insGGGGGGGGGGGGGGGG (n.540-74_540-73insGGGGGGGGGGGGGGGG) | gnomAD v4 |
1 | g.6474661del | CA2642979576 | PLEKHG5 | c.303-74del (n.303-74del) c.477-74del (n.477-74del) c.414-74del (n.414-74del) n.705del c.510-74del (n.510-74del) c.600-74del (n.600-74del) c.*515-74del (n.*515-74del) c.*131-74del (n.*131-74del) c.264+36del (n.264+36del) c.534-74del (n.534-74del) c.471-74del (n.471-74del) c.540-74del (n.540-74del) | gnomAD v4 |
1 | g.6474661A= | CA1151507291 | PLEKHG5 | c.303-74T= (n.303-74T=) c.477-74T= (n.477-74T=) c.414-74T= (n.414-74T=) n.705T= c.510-74T= (n.510-74T=) c.600-74T= (n.600-74T=) c.*515-74T= (n.*515-74T=) c.*131-74T= (n.*131-74T=) c.264+36T= (n.264+36T=) c.534-74T= (n.534-74T=) c.471-74T= (n.471-74T=) c.540-74T= (n.540-74T=) | |
1 | g.6474661A>C | CA998179175 | PLEKHG5 | c.303-74T>G (n.303-74T>G) c.477-74T>G (n.477-74T>G) c.414-74T>G (n.414-74T>G) n.705T>G c.510-74T>G (n.510-74T>G) c.600-74T>G (n.600-74T>G) c.*515-74T>G (n.*515-74T>G) c.*131-74T>G (n.*131-74T>G) c.264+36T>G (n.264+36T>G) c.534-74T>G (n.534-74T>G) c.471-74T>G (n.471-74T>G) c.540-74T>G (n.540-74T>G) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.6474661A>G | CA2642979582 | PLEKHG5 | c.303-74T>C (n.303-74T>C) c.477-74T>C (n.477-74T>C) c.414-74T>C (n.414-74T>C) n.705T>C c.510-74T>C (n.510-74T>C) c.600-74T>C (n.600-74T>C) c.*515-74T>C (n.*515-74T>C) c.*131-74T>C (n.*131-74T>C) c.264+36T>C (n.264+36T>C) c.534-74T>C (n.534-74T>C) c.471-74T>C (n.471-74T>C) c.540-74T>C (n.540-74T>C) | gnomAD v4 |
1 | g.6474661A>T | CA2642979581 | PLEKHG5 | c.303-74T>A (n.303-74T>A) c.477-74T>A (n.477-74T>A) c.414-74T>A (n.414-74T>A) n.705T>A c.510-74T>A (n.510-74T>A) c.600-74T>A (n.600-74T>A) c.*515-74T>A (n.*515-74T>A) c.*131-74T>A (n.*131-74T>A) c.264+36T>A (n.264+36T>A) c.534-74T>A (n.534-74T>A) c.471-74T>A (n.471-74T>A) c.540-74T>A (n.540-74T>A) | gnomAD v4 |
1 | g.6474661_6474662insACC | CA998179178 | PLEKHG5 | c.303-75_303-74insGGT (n.303-75_303-74insGGT) c.477-75_477-74insGGT (n.477-75_477-74insGGT) c.414-75_414-74insGGT (n.414-75_414-74insGGT) n.704_705insGGT c.510-75_510-74insGGT (n.510-75_510-74insGGT) c.600-75_600-74insGGT (n.600-75_600-74insGGT) c.*515-75_*515-74insGGT (n.*515-75_*515-74insGGT) c.*131-75_*131-74insGGT (n.*131-75_*131-74insGGT) c.264+35_264+36insGGT (n.264+35_264+36insGGT) c.534-75_534-74insGGT (n.534-75_534-74insGGT) c.471-75_471-74insGGT (n.471-75_471-74insGGT) c.540-75_540-74insGGT (n.540-75_540-74insGGT) | gnomAD v3 gnomAD v4 |
1 | g.6474661_6474662insACCCCC | CA2642979613 | PLEKHG5 | c.303-75_303-74insGGGGGT (n.303-75_303-74insGGGGGT) c.477-75_477-74insGGGGGT (n.477-75_477-74insGGGGGT) c.414-75_414-74insGGGGGT (n.414-75_414-74insGGGGGT) n.704_705insGGGGGT c.510-75_510-74insGGGGGT (n.510-75_510-74insGGGGGT) c.600-75_600-74insGGGGGT (n.600-75_600-74insGGGGGT) c.*515-75_*515-74insGGGGGT (n.*515-75_*515-74insGGGGGT) c.*131-75_*131-74insGGGGGT (n.*131-75_*131-74insGGGGGT) c.264+35_264+36insGGGGGT (n.264+35_264+36insGGGGGT) c.534-75_534-74insGGGGGT (n.534-75_534-74insGGGGGT) c.471-75_471-74insGGGGGT (n.471-75_471-74insGGGGGT) c.540-75_540-74insGGGGGT (n.540-75_540-74insGGGGGT) | gnomAD v4 |
1 | g.6474661_6474662insCCCCCCC | CA2642979607 | PLEKHG5 | c.303-75_303-74insGGGGGGG (n.303-75_303-74insGGGGGGG) c.477-75_477-74insGGGGGGG (n.477-75_477-74insGGGGGGG) c.414-75_414-74insGGGGGGG (n.414-75_414-74insGGGGGGG) n.704_705insGGGGGGG c.510-75_510-74insGGGGGGG (n.510-75_510-74insGGGGGGG) c.600-75_600-74insGGGGGGG (n.600-75_600-74insGGGGGGG) c.*515-75_*515-74insGGGGGGG (n.*515-75_*515-74insGGGGGGG) c.*131-75_*131-74insGGGGGGG (n.*131-75_*131-74insGGGGGGG) c.264+35_264+36insGGGGGGG (n.264+35_264+36insGGGGGGG) c.534-75_534-74insGGGGGGG (n.534-75_534-74insGGGGGGG) c.471-75_471-74insGGGGGGG (n.471-75_471-74insGGGGGGG) c.540-75_540-74insGGGGGGG (n.540-75_540-74insGGGGGGG) | gnomAD v4 |
1 | g.6474661_6474662insCCCCCCCC | CA2642979606 | PLEKHG5 | c.303-75_303-74insGGGGGGGG (n.303-75_303-74insGGGGGGGG) c.477-75_477-74insGGGGGGGG (n.477-75_477-74insGGGGGGGG) c.414-75_414-74insGGGGGGGG (n.414-75_414-74insGGGGGGGG) n.704_705insGGGGGGGG c.510-75_510-74insGGGGGGGG (n.510-75_510-74insGGGGGGGG) c.600-75_600-74insGGGGGGGG (n.600-75_600-74insGGGGGGGG) c.*515-75_*515-74insGGGGGGGG (n.*515-75_*515-74insGGGGGGGG) c.*131-75_*131-74insGGGGGGGG (n.*131-75_*131-74insGGGGGGGG) c.264+35_264+36insGGGGGGGG (n.264+35_264+36insGGGGGGGG) c.534-75_534-74insGGGGGGGG (n.534-75_534-74insGGGGGGGG) c.471-75_471-74insGGGGGGGG (n.471-75_471-74insGGGGGGGG) c.540-75_540-74insGGGGGGGG (n.540-75_540-74insGGGGGGGG) | gnomAD v4 |
1 | g.6474661_6474662insACCCCCCCCC | CA2642979609 | PLEKHG5 | c.303-75_303-74insGGGGGGGGGT (n.303-75_303-74insGGGGGGGGGT) c.477-75_477-74insGGGGGGGGGT (n.477-75_477-74insGGGGGGGGGT) c.414-75_414-74insGGGGGGGGGT (n.414-75_414-74insGGGGGGGGGT) n.704_705insGGGGGGGGGT c.510-75_510-74insGGGGGGGGGT (n.510-75_510-74insGGGGGGGGGT) c.600-75_600-74insGGGGGGGGGT (n.600-75_600-74insGGGGGGGGGT) c.*515-75_*515-74insGGGGGGGGGT (n.*515-75_*515-74insGGGGGGGGGT) c.*131-75_*131-74insGGGGGGGGGT (n.*131-75_*131-74insGGGGGGGGGT) c.264+35_264+36insGGGGGGGGGT (n.264+35_264+36insGGGGGGGGGT) c.534-75_534-74insGGGGGGGGGT (n.534-75_534-74insGGGGGGGGGT) c.471-75_471-74insGGGGGGGGGT (n.471-75_471-74insGGGGGGGGGT) c.540-75_540-74insGGGGGGGGGT (n.540-75_540-74insGGGGGGGGGT) | gnomAD v4 |
1 | g.6474661_6474662insCCCCCCCCCCCCCC | CA2543590574 | PLEKHG5 | c.303-75_303-74insGGGGGGGGGGGGGG (n.303-75_303-74insGGGGGGGGGGGGGG) c.477-75_477-74insGGGGGGGGGGGGGG (n.477-75_477-74insGGGGGGGGGGGGGG) c.414-75_414-74insGGGGGGGGGGGGGG (n.414-75_414-74insGGGGGGGGGGGGGG) n.704_705insGGGGGGGGGGGGGG c.510-75_510-74insGGGGGGGGGGGGGG (n.510-75_510-74insGGGGGGGGGGGGGG) c.600-75_600-74insGGGGGGGGGGGGGG (n.600-75_600-74insGGGGGGGGGGGGGG) c.*515-75_*515-74insGGGGGGGGGGGGGG (n.*515-75_*515-74insGGGGGGGGGGGGGG) c.*131-75_*131-74insGGGGGGGGGGGGGG (n.*131-75_*131-74insGGGGGGGGGGGGGG) c.264+35_264+36insGGGGGGGGGGGGGG (n.264+35_264+36insGGGGGGGGGGGGGG) c.534-75_534-74insGGGGGGGGGGGGGG (n.534-75_534-74insGGGGGGGGGGGGGG) c.471-75_471-74insGGGGGGGGGGGGGG (n.471-75_471-74insGGGGGGGGGGGGGG) c.540-75_540-74insGGGGGGGGGGGGGG (n.540-75_540-74insGGGGGGGGGGGGGG) | |
1 | g.6474661_6474662insACCCCCCCCCCCCCCCCCCCCCCCCCC | CA2592134465 | PLEKHG5 | c.303-75_303-74insGGGGGGGGGGGGGGGGGGGGGGGGGGT (n.303-75_303-74insGGGGGGGGGGGGGGGGGGGGGGGGGGT) c.477-75_477-74insGGGGGGGGGGGGGGGGGGGGGGGGGGT (n.477-75_477-74insGGGGGGGGGGGGGGGGGGGGGGGGGGT) c.414-75_414-74insGGGGGGGGGGGGGGGGGGGGGGGGGGT (n.414-75_414-74insGGGGGGGGGGGGGGGGGGGGGGGGGGT) n.704_705insGGGGGGGGGGGGGGGGGGGGGGGGGGT c.510-75_510-74insGGGGGGGGGGGGGGGGGGGGGGGGGGT (n.510-75_510-74insGGGGGGGGGGGGGGGGGGGGGGGGGGT) c.600-75_600-74insGGGGGGGGGGGGGGGGGGGGGGGGGGT (n.600-75_600-74insGGGGGGGGGGGGGGGGGGGGGGGGGGT) c.*515-75_*515-74insGGGGGGGGGGGGGGGGGGGGGGGGGGT (n.*515-75_*515-74insGGGGGGGGGGGGGGGGGGGGGGGGGGT) c.*131-75_*131-74insGGGGGGGGGGGGGGGGGGGGGGGGGGT (n.*131-75_*131-74insGGGGGGGGGGGGGGGGGGGGGGGGGGT) c.264+35_264+36insGGGGGGGGGGGGGGGGGGGGGGGGGGT (n.264+35_264+36insGGGGGGGGGGGGGGGGGGGGGGGGGGT) c.534-75_534-74insGGGGGGGGGGGGGGGGGGGGGGGGGGT (n.534-75_534-74insGGGGGGGGGGGGGGGGGGGGGGGGGGT) c.471-75_471-74insGGGGGGGGGGGGGGGGGGGGGGGGGGT (n.471-75_471-74insGGGGGGGGGGGGGGGGGGGGGGGGGGT) c.540-75_540-74insGGGGGGGGGGGGGGGGGGGGGGGGGGT (n.540-75_540-74insGGGGGGGGGGGGGGGGGGGGGGGGGGT) | gnomAD v3 gnomAD v4 |
1 | g.6474661_6474662insCCCCCCCCCCCCCCCCCCCCCCCCCCCC | CA2592134464 | PLEKHG5 | c.303-75_303-74insGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.303-75_303-74insGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.477-75_477-74insGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.477-75_477-74insGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.414-75_414-74insGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.414-75_414-74insGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.704_705insGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.510-75_510-74insGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.510-75_510-74insGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.600-75_600-74insGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.600-75_600-74insGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*515-75_*515-74insGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*515-75_*515-74insGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*131-75_*131-74insGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*131-75_*131-74insGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.264+35_264+36insGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.264+35_264+36insGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.534-75_534-74insGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.534-75_534-74insGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.471-75_471-74insGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.471-75_471-74insGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.540-75_540-74insGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.540-75_540-74insGGGGGGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
1 | g.6474661_6474662insCCCCCCCCCCCCCCCCCCCCCCCCCCCCC | CA2642979605 | PLEKHG5 | c.303-75_303-74insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.303-75_303-74insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.477-75_477-74insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.477-75_477-74insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.414-75_414-74insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.414-75_414-74insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.704_705insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.510-75_510-74insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.510-75_510-74insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.600-75_600-74insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.600-75_600-74insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*515-75_*515-74insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*515-75_*515-74insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*131-75_*131-74insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*131-75_*131-74insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.264+35_264+36insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.264+35_264+36insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.534-75_534-74insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.534-75_534-74insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.471-75_471-74insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.471-75_471-74insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.540-75_540-74insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.540-75_540-74insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
1 | g.6474661_6474662insCCCCCCCCCCCCCCCCCCCCCCCCCCCACC | CA2742323564 | PLEKHG5 | c.303-75_303-74insGGTGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.303-75_303-74insGGTGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.477-75_477-74insGGTGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.477-75_477-74insGGTGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.414-75_414-74insGGTGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.414-75_414-74insGGTGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.704_705insGGTGGGGGGGGGGGGGGGGGGGGGGGGGGG c.510-75_510-74insGGTGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.510-75_510-74insGGTGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.600-75_600-74insGGTGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.600-75_600-74insGGTGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*515-75_*515-74insGGTGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*515-75_*515-74insGGTGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*131-75_*131-74insGGTGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*131-75_*131-74insGGTGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.264+35_264+36insGGTGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.264+35_264+36insGGTGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.534-75_534-74insGGTGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.534-75_534-74insGGTGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.471-75_471-74insGGTGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.471-75_471-74insGGTGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.540-75_540-74insGGTGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.540-75_540-74insGGTGGGGGGGGGGGGGGGGGGGGGGGGGGG) | |
1 | g.6474662del | CA2642979602 | PLEKHG5 | c.303-75del (n.303-75del) c.477-75del (n.477-75del) c.414-75del (n.414-75del) n.704del c.510-75del (n.510-75del) c.600-75del (n.600-75del) c.*515-75del (n.*515-75del) c.*131-75del (n.*131-75del) c.264+35del (n.264+35del) c.534-75del (n.534-75del) c.471-75del (n.471-75del) c.540-75del (n.540-75del) | gnomAD v4 |
1 | g.6474662G>A | CA998179181 | PLEKHG5 | c.303-75C>T (n.303-75C>T) c.477-75C>T (n.477-75C>T) c.414-75C>T (n.414-75C>T) n.704C>T c.510-75C>T (n.510-75C>T) c.600-75C>T (n.600-75C>T) c.*515-75C>T (n.*515-75C>T) c.*131-75C>T (n.*131-75C>T) c.264+35C>T (n.264+35C>T) c.534-75C>T (n.534-75C>T) c.471-75C>T (n.471-75C>T) c.540-75C>T (n.540-75C>T) | gnomAD v3 gnomAD v4 |
1 | g.6474662G>C | CA520766034 | PLEKHG5 | c.303-75C>G (n.303-75C>G) c.477-75C>G (n.477-75C>G) c.414-75C>G (n.414-75C>G) n.704C>G c.510-75C>G (n.510-75C>G) c.600-75C>G (n.600-75C>G) c.*515-75C>G (n.*515-75C>G) c.*131-75C>G (n.*131-75C>G) c.264+35C>G (n.264+35C>G) c.534-75C>G (n.534-75C>G) c.471-75C>G (n.471-75C>G) c.540-75C>G (n.540-75C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474662G= | CA1151507296 | PLEKHG5 | c.303-75C= (n.303-75C=) c.477-75C= (n.477-75C=) c.414-75C= (n.414-75C=) n.704C= c.510-75C= (n.510-75C=) c.600-75C= (n.600-75C=) c.*515-75C= (n.*515-75C=) c.*131-75C= (n.*131-75C=) c.264+35C= (n.264+35C=) c.534-75C= (n.534-75C=) c.471-75C= (n.471-75C=) c.540-75C= (n.540-75C=) | |
1 | g.6474662G>T | CA998179188 | PLEKHG5 | c.303-75C>A (n.303-75C>A) c.477-75C>A (n.477-75C>A) c.414-75C>A (n.414-75C>A) n.704C>A c.510-75C>A (n.510-75C>A) c.600-75C>A (n.600-75C>A) c.*515-75C>A (n.*515-75C>A) c.*131-75C>A (n.*131-75C>A) c.264+35C>A (n.264+35C>A) c.534-75C>A (n.534-75C>A) c.471-75C>A (n.471-75C>A) c.540-75C>A (n.540-75C>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.6474662dup | CA998179179 | PLEKHG5 | c.303-75dup (n.303-75dup) c.477-75dup (n.477-75dup) c.414-75dup (n.414-75dup) n.704dup c.510-75dup (n.510-75dup) c.600-75dup (n.600-75dup) c.*515-75dup (n.*515-75dup) c.*131-75dup (n.*131-75dup) c.264+35dup (n.264+35dup) c.534-75dup (n.534-75dup) c.471-75dup (n.471-75dup) c.540-75dup (n.540-75dup) | gnomAD v3 gnomAD v4 |
1 | g.6474662_6474663insA | CA2642979814 | PLEKHG5 | c.303-76_303-75insT (n.303-76_303-75insT) c.477-76_477-75insT (n.477-76_477-75insT) c.414-76_414-75insT (n.414-76_414-75insT) n.703_704insT c.510-76_510-75insT (n.510-76_510-75insT) c.600-76_600-75insT (n.600-76_600-75insT) c.*515-76_*515-75insT (n.*515-76_*515-75insT) c.*131-76_*131-75insT (n.*131-76_*131-75insT) c.264+34_264+35insT (n.264+34_264+35insT) c.534-76_534-75insT (n.534-76_534-75insT) c.471-76_471-75insT (n.471-76_471-75insT) c.540-76_540-75insT (n.540-76_540-75insT) | gnomAD v4 |
1 | g.6474662_6474663insGC | CA998179227 | PLEKHG5 | c.303-76_303-75insGC (n.303-76_303-75insGC) c.477-76_477-75insGC (n.477-76_477-75insGC) c.414-76_414-75insGC (n.414-76_414-75insGC) n.703_704insGC c.510-76_510-75insGC (n.510-76_510-75insGC) c.600-76_600-75insGC (n.600-76_600-75insGC) c.*515-76_*515-75insGC (n.*515-76_*515-75insGC) c.*131-76_*131-75insGC (n.*131-76_*131-75insGC) c.264+34_264+35insGC (n.264+34_264+35insGC) c.534-76_534-75insGC (n.534-76_534-75insGC) c.471-76_471-75insGC (n.471-76_471-75insGC) c.540-76_540-75insGC (n.540-76_540-75insGC) | gnomAD v3 gnomAD v4 |
1 | g.6474662_6474663insACC | CA2642979816 | PLEKHG5 | c.303-76_303-75insGGT (n.303-76_303-75insGGT) c.477-76_477-75insGGT (n.477-76_477-75insGGT) c.414-76_414-75insGGT (n.414-76_414-75insGGT) n.703_704insGGT c.510-76_510-75insGGT (n.510-76_510-75insGGT) c.600-76_600-75insGGT (n.600-76_600-75insGGT) c.*515-76_*515-75insGGT (n.*515-76_*515-75insGGT) c.*131-76_*131-75insGGT (n.*131-76_*131-75insGGT) c.264+34_264+35insGGT (n.264+34_264+35insGGT) c.534-76_534-75insGGT (n.534-76_534-75insGGT) c.471-76_471-75insGGT (n.471-76_471-75insGGT) c.540-76_540-75insGGT (n.540-76_540-75insGGT) | gnomAD v4 |
1 | g.6474662_6474663insGCC | CA998179225 | PLEKHG5 | c.303-76_303-75insGGC (n.303-76_303-75insGGC) c.477-76_477-75insGGC (n.477-76_477-75insGGC) c.414-76_414-75insGGC (n.414-76_414-75insGGC) n.703_704insGGC c.510-76_510-75insGGC (n.510-76_510-75insGGC) c.600-76_600-75insGGC (n.600-76_600-75insGGC) c.*515-76_*515-75insGGC (n.*515-76_*515-75insGGC) c.*131-76_*131-75insGGC (n.*131-76_*131-75insGGC) c.264+34_264+35insGGC (n.264+34_264+35insGGC) c.534-76_534-75insGGC (n.534-76_534-75insGGC) c.471-76_471-75insGGC (n.471-76_471-75insGGC) c.540-76_540-75insGGC (n.540-76_540-75insGGC) | gnomAD v3 gnomAD v4 |
1 | g.6474662_6474663insGCCC | CA998179224 | PLEKHG5 | c.303-76_303-75insGGGC (n.303-76_303-75insGGGC) c.477-76_477-75insGGGC (n.477-76_477-75insGGGC) c.414-76_414-75insGGGC (n.414-76_414-75insGGGC) n.703_704insGGGC c.510-76_510-75insGGGC (n.510-76_510-75insGGGC) c.600-76_600-75insGGGC (n.600-76_600-75insGGGC) c.*515-76_*515-75insGGGC (n.*515-76_*515-75insGGGC) c.*131-76_*131-75insGGGC (n.*131-76_*131-75insGGGC) c.264+34_264+35insGGGC (n.264+34_264+35insGGGC) c.534-76_534-75insGGGC (n.534-76_534-75insGGGC) c.471-76_471-75insGGGC (n.471-76_471-75insGGGC) c.540-76_540-75insGGGC (n.540-76_540-75insGGGC) | gnomAD v3 gnomAD v4 |
1 | g.6474662_6474663insGCCCC | CA2642979728 | PLEKHG5 | c.303-76_303-75insGGGGC (n.303-76_303-75insGGGGC) c.477-76_477-75insGGGGC (n.477-76_477-75insGGGGC) c.414-76_414-75insGGGGC (n.414-76_414-75insGGGGC) n.703_704insGGGGC c.510-76_510-75insGGGGC (n.510-76_510-75insGGGGC) c.600-76_600-75insGGGGC (n.600-76_600-75insGGGGC) c.*515-76_*515-75insGGGGC (n.*515-76_*515-75insGGGGC) c.*131-76_*131-75insGGGGC (n.*131-76_*131-75insGGGGC) c.264+34_264+35insGGGGC (n.264+34_264+35insGGGGC) c.534-76_534-75insGGGGC (n.534-76_534-75insGGGGC) c.471-76_471-75insGGGGC (n.471-76_471-75insGGGGC) c.540-76_540-75insGGGGC (n.540-76_540-75insGGGGC) | gnomAD v4 |
1 | g.6474662_6474663insGCCCCC | CA998179223 | PLEKHG5 | c.303-76_303-75insGGGGGC (n.303-76_303-75insGGGGGC) c.477-76_477-75insGGGGGC (n.477-76_477-75insGGGGGC) c.414-76_414-75insGGGGGC (n.414-76_414-75insGGGGGC) n.703_704insGGGGGC c.510-76_510-75insGGGGGC (n.510-76_510-75insGGGGGC) c.600-76_600-75insGGGGGC (n.600-76_600-75insGGGGGC) c.*515-76_*515-75insGGGGGC (n.*515-76_*515-75insGGGGGC) c.*131-76_*131-75insGGGGGC (n.*131-76_*131-75insGGGGGC) c.264+34_264+35insGGGGGC (n.264+34_264+35insGGGGGC) c.534-76_534-75insGGGGGC (n.534-76_534-75insGGGGGC) c.471-76_471-75insGGGGGC (n.471-76_471-75insGGGGGC) c.540-76_540-75insGGGGGC (n.540-76_540-75insGGGGGC) | gnomAD v3 gnomAD v4 |
1 | g.6474662_6474663insGCCCCCC | CA998179222 | PLEKHG5 | c.303-76_303-75insGGGGGGC (n.303-76_303-75insGGGGGGC) c.477-76_477-75insGGGGGGC (n.477-76_477-75insGGGGGGC) c.414-76_414-75insGGGGGGC (n.414-76_414-75insGGGGGGC) n.703_704insGGGGGGC c.510-76_510-75insGGGGGGC (n.510-76_510-75insGGGGGGC) c.600-76_600-75insGGGGGGC (n.600-76_600-75insGGGGGGC) c.*515-76_*515-75insGGGGGGC (n.*515-76_*515-75insGGGGGGC) c.*131-76_*131-75insGGGGGGC (n.*131-76_*131-75insGGGGGGC) c.264+34_264+35insGGGGGGC (n.264+34_264+35insGGGGGGC) c.534-76_534-75insGGGGGGC (n.534-76_534-75insGGGGGGC) c.471-76_471-75insGGGGGGC (n.471-76_471-75insGGGGGGC) c.540-76_540-75insGGGGGGC (n.540-76_540-75insGGGGGGC) | gnomAD v3 gnomAD v4 |
1 | g.6474662_6474663insGCCCCCCC | CA2547281353 | PLEKHG5 | c.303-76_303-75insGGGGGGGC (n.303-76_303-75insGGGGGGGC) c.477-76_477-75insGGGGGGGC (n.477-76_477-75insGGGGGGGC) c.414-76_414-75insGGGGGGGC (n.414-76_414-75insGGGGGGGC) n.703_704insGGGGGGGC c.510-76_510-75insGGGGGGGC (n.510-76_510-75insGGGGGGGC) c.600-76_600-75insGGGGGGGC (n.600-76_600-75insGGGGGGGC) c.*515-76_*515-75insGGGGGGGC (n.*515-76_*515-75insGGGGGGGC) c.*131-76_*131-75insGGGGGGGC (n.*131-76_*131-75insGGGGGGGC) c.264+34_264+35insGGGGGGGC (n.264+34_264+35insGGGGGGGC) c.534-76_534-75insGGGGGGGC (n.534-76_534-75insGGGGGGGC) c.471-76_471-75insGGGGGGGC (n.471-76_471-75insGGGGGGGC) c.540-76_540-75insGGGGGGGC (n.540-76_540-75insGGGGGGGC) | gnomAD v4 |
1 | g.6474662_6474663insGCCCCCCCC | CA2742323567 | PLEKHG5 | c.303-76_303-75insGGGGGGGGC (n.303-76_303-75insGGGGGGGGC) c.477-76_477-75insGGGGGGGGC (n.477-76_477-75insGGGGGGGGC) c.414-76_414-75insGGGGGGGGC (n.414-76_414-75insGGGGGGGGC) n.703_704insGGGGGGGGC c.510-76_510-75insGGGGGGGGC (n.510-76_510-75insGGGGGGGGC) c.600-76_600-75insGGGGGGGGC (n.600-76_600-75insGGGGGGGGC) c.*515-76_*515-75insGGGGGGGGC (n.*515-76_*515-75insGGGGGGGGC) c.*131-76_*131-75insGGGGGGGGC (n.*131-76_*131-75insGGGGGGGGC) c.264+34_264+35insGGGGGGGGC (n.264+34_264+35insGGGGGGGGC) c.534-76_534-75insGGGGGGGGC (n.534-76_534-75insGGGGGGGGC) c.471-76_471-75insGGGGGGGGC (n.471-76_471-75insGGGGGGGGC) c.540-76_540-75insGGGGGGGGC (n.540-76_540-75insGGGGGGGGC) | |
1 | g.6474662_6474663insGCCCCCCCCCCCC | CA2642979746 | PLEKHG5 | c.303-76_303-75insGGGGGGGGGGGGC (n.303-76_303-75insGGGGGGGGGGGGC) c.477-76_477-75insGGGGGGGGGGGGC (n.477-76_477-75insGGGGGGGGGGGGC) c.414-76_414-75insGGGGGGGGGGGGC (n.414-76_414-75insGGGGGGGGGGGGC) n.703_704insGGGGGGGGGGGGC c.510-76_510-75insGGGGGGGGGGGGC (n.510-76_510-75insGGGGGGGGGGGGC) c.600-76_600-75insGGGGGGGGGGGGC (n.600-76_600-75insGGGGGGGGGGGGC) c.*515-76_*515-75insGGGGGGGGGGGGC (n.*515-76_*515-75insGGGGGGGGGGGGC) c.*131-76_*131-75insGGGGGGGGGGGGC (n.*131-76_*131-75insGGGGGGGGGGGGC) c.264+34_264+35insGGGGGGGGGGGGC (n.264+34_264+35insGGGGGGGGGGGGC) c.534-76_534-75insGGGGGGGGGGGGC (n.534-76_534-75insGGGGGGGGGGGGC) c.471-76_471-75insGGGGGGGGGGGGC (n.471-76_471-75insGGGGGGGGGGGGC) c.540-76_540-75insGGGGGGGGGGGGC (n.540-76_540-75insGGGGGGGGGGGGC) | gnomAD v4 |
1 | g.6474662_6474663insGCCCCCCCCCCCCCCCCCCCC | CA2642979757 | PLEKHG5 | c.303-76_303-75insGGGGGGGGGGGGGGGGGGGGC (n.303-76_303-75insGGGGGGGGGGGGGGGGGGGGC) c.477-76_477-75insGGGGGGGGGGGGGGGGGGGGC (n.477-76_477-75insGGGGGGGGGGGGGGGGGGGGC) c.414-76_414-75insGGGGGGGGGGGGGGGGGGGGC (n.414-76_414-75insGGGGGGGGGGGGGGGGGGGGC) n.703_704insGGGGGGGGGGGGGGGGGGGGC c.510-76_510-75insGGGGGGGGGGGGGGGGGGGGC (n.510-76_510-75insGGGGGGGGGGGGGGGGGGGGC) c.600-76_600-75insGGGGGGGGGGGGGGGGGGGGC (n.600-76_600-75insGGGGGGGGGGGGGGGGGGGGC) c.*515-76_*515-75insGGGGGGGGGGGGGGGGGGGGC (n.*515-76_*515-75insGGGGGGGGGGGGGGGGGGGGC) c.*131-76_*131-75insGGGGGGGGGGGGGGGGGGGGC (n.*131-76_*131-75insGGGGGGGGGGGGGGGGGGGGC) c.264+34_264+35insGGGGGGGGGGGGGGGGGGGGC (n.264+34_264+35insGGGGGGGGGGGGGGGGGGGGC) c.534-76_534-75insGGGGGGGGGGGGGGGGGGGGC (n.534-76_534-75insGGGGGGGGGGGGGGGGGGGGC) c.471-76_471-75insGGGGGGGGGGGGGGGGGGGGC (n.471-76_471-75insGGGGGGGGGGGGGGGGGGGGC) c.540-76_540-75insGGGGGGGGGGGGGGGGGGGGC (n.540-76_540-75insGGGGGGGGGGGGGGGGGGGGC) | gnomAD v4 |
1 | g.6474662_6474663insGCCCCCCCCCCCCCCCCCCCCC | CA998179204 | PLEKHG5 | c.303-76_303-75insGGGGGGGGGGGGGGGGGGGGGC (n.303-76_303-75insGGGGGGGGGGGGGGGGGGGGGC) c.477-76_477-75insGGGGGGGGGGGGGGGGGGGGGC (n.477-76_477-75insGGGGGGGGGGGGGGGGGGGGGC) c.414-76_414-75insGGGGGGGGGGGGGGGGGGGGGC (n.414-76_414-75insGGGGGGGGGGGGGGGGGGGGGC) n.703_704insGGGGGGGGGGGGGGGGGGGGGC c.510-76_510-75insGGGGGGGGGGGGGGGGGGGGGC (n.510-76_510-75insGGGGGGGGGGGGGGGGGGGGGC) c.600-76_600-75insGGGGGGGGGGGGGGGGGGGGGC (n.600-76_600-75insGGGGGGGGGGGGGGGGGGGGGC) c.*515-76_*515-75insGGGGGGGGGGGGGGGGGGGGGC (n.*515-76_*515-75insGGGGGGGGGGGGGGGGGGGGGC) c.*131-76_*131-75insGGGGGGGGGGGGGGGGGGGGGC (n.*131-76_*131-75insGGGGGGGGGGGGGGGGGGGGGC) c.264+34_264+35insGGGGGGGGGGGGGGGGGGGGGC (n.264+34_264+35insGGGGGGGGGGGGGGGGGGGGGC) c.534-76_534-75insGGGGGGGGGGGGGGGGGGGGGC (n.534-76_534-75insGGGGGGGGGGGGGGGGGGGGGC) c.471-76_471-75insGGGGGGGGGGGGGGGGGGGGGC (n.471-76_471-75insGGGGGGGGGGGGGGGGGGGGGC) c.540-76_540-75insGGGGGGGGGGGGGGGGGGGGGC (n.540-76_540-75insGGGGGGGGGGGGGGGGGGGGGC) | gnomAD v3 gnomAD v4 |
1 | g.6474662_6474663insGCCCCCCCCCCCCCCCCCCCCCCCCCC | CA2642979763 | PLEKHG5 | c.303-76_303-75insGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.303-76_303-75insGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.477-76_477-75insGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.477-76_477-75insGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.414-76_414-75insGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.414-76_414-75insGGGGGGGGGGGGGGGGGGGGGGGGGGC) n.703_704insGGGGGGGGGGGGGGGGGGGGGGGGGGC c.510-76_510-75insGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.510-76_510-75insGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.600-76_600-75insGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.600-76_600-75insGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.*515-76_*515-75insGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.*515-76_*515-75insGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.*131-76_*131-75insGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.*131-76_*131-75insGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.264+34_264+35insGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.264+34_264+35insGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.534-76_534-75insGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.534-76_534-75insGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.471-76_471-75insGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.471-76_471-75insGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.540-76_540-75insGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.540-76_540-75insGGGGGGGGGGGGGGGGGGGGGGGGGGC) | gnomAD v4 |
1 | g.6474662_6474663insGCCCCCCCCCCCCCCCACCCCCCCCCCC | CA2642979753 | PLEKHG5 | c.303-76_303-75insGGGGGGGGGGGTGGGGGGGGGGGGGGGC (n.303-76_303-75insGGGGGGGGGGGTGGGGGGGGGGGGGGGC) c.477-76_477-75insGGGGGGGGGGGTGGGGGGGGGGGGGGGC (n.477-76_477-75insGGGGGGGGGGGTGGGGGGGGGGGGGGGC) c.414-76_414-75insGGGGGGGGGGGTGGGGGGGGGGGGGGGC (n.414-76_414-75insGGGGGGGGGGGTGGGGGGGGGGGGGGGC) n.703_704insGGGGGGGGGGGTGGGGGGGGGGGGGGGC c.510-76_510-75insGGGGGGGGGGGTGGGGGGGGGGGGGGGC (n.510-76_510-75insGGGGGGGGGGGTGGGGGGGGGGGGGGGC) c.600-76_600-75insGGGGGGGGGGGTGGGGGGGGGGGGGGGC (n.600-76_600-75insGGGGGGGGGGGTGGGGGGGGGGGGGGGC) c.*515-76_*515-75insGGGGGGGGGGGTGGGGGGGGGGGGGGGC (n.*515-76_*515-75insGGGGGGGGGGGTGGGGGGGGGGGGGGGC) c.*131-76_*131-75insGGGGGGGGGGGTGGGGGGGGGGGGGGGC (n.*131-76_*131-75insGGGGGGGGGGGTGGGGGGGGGGGGGGGC) c.264+34_264+35insGGGGGGGGGGGTGGGGGGGGGGGGGGGC (n.264+34_264+35insGGGGGGGGGGGTGGGGGGGGGGGGGGGC) c.534-76_534-75insGGGGGGGGGGGTGGGGGGGGGGGGGGGC (n.534-76_534-75insGGGGGGGGGGGTGGGGGGGGGGGGGGGC) c.471-76_471-75insGGGGGGGGGGGTGGGGGGGGGGGGGGGC (n.471-76_471-75insGGGGGGGGGGGTGGGGGGGGGGGGGGGC) c.540-76_540-75insGGGGGGGGGGGTGGGGGGGGGGGGGGGC (n.540-76_540-75insGGGGGGGGGGGTGGGGGGGGGGGGGGGC) | gnomAD v4 |
1 | g.6474662_6474663insGCCCCCCCCCCCCCCCCCCCCCCCCCCCC | CA2642979769 | PLEKHG5 | c.303-76_303-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.303-76_303-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.477-76_477-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.477-76_477-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.414-76_414-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.414-76_414-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGC) n.703_704insGGGGGGGGGGGGGGGGGGGGGGGGGGGGC c.510-76_510-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.510-76_510-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.600-76_600-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.600-76_600-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.*515-76_*515-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.*515-76_*515-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.*131-76_*131-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.*131-76_*131-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.264+34_264+35insGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.264+34_264+35insGGGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.534-76_534-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.534-76_534-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.471-76_471-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.471-76_471-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.540-76_540-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.540-76_540-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGC) | gnomAD v4 |
1 | g.6474662_6474663insGCCCCCCCCCCCCCCCCACCCCCCCCCCCCCCCCCC | CA998179220 | PLEKHG5 | c.303-76_303-75insGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGC (n.303-76_303-75insGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGC) c.477-76_477-75insGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGC (n.477-76_477-75insGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGC) c.414-76_414-75insGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGC (n.414-76_414-75insGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGC) n.703_704insGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGC c.510-76_510-75insGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGC (n.510-76_510-75insGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGC) c.600-76_600-75insGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGC (n.600-76_600-75insGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGC) c.*515-76_*515-75insGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGC (n.*515-76_*515-75insGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGC) c.*131-76_*131-75insGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGC (n.*131-76_*131-75insGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGC) c.264+34_264+35insGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGC (n.264+34_264+35insGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGC) c.534-76_534-75insGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGC (n.534-76_534-75insGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGC) c.471-76_471-75insGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGC (n.471-76_471-75insGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGC) c.540-76_540-75insGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGC (n.540-76_540-75insGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGC) | gnomAD v3 gnomAD v4 |
1 | g.6474662_6474663insGCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCACCC | CA2642979773 | PLEKHG5 | c.303-76_303-75insGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.303-76_303-75insGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.477-76_477-75insGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.477-76_477-75insGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.414-76_414-75insGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.414-76_414-75insGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC) n.703_704insGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC c.510-76_510-75insGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.510-76_510-75insGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.600-76_600-75insGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.600-76_600-75insGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.*515-76_*515-75insGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.*515-76_*515-75insGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.*131-76_*131-75insGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.*131-76_*131-75insGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.264+34_264+35insGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.264+34_264+35insGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.534-76_534-75insGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.534-76_534-75insGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.471-76_471-75insGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.471-76_471-75insGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC) c.540-76_540-75insGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.540-76_540-75insGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC) | gnomAD v4 |
1 | g.6474663C>A | CA2642979785 | PLEKHG5 | c.303-76G>T (n.303-76G>T) c.477-76G>T (n.477-76G>T) c.414-76G>T (n.414-76G>T) n.703G>T c.510-76G>T (n.510-76G>T) c.600-76G>T (n.600-76G>T) c.*515-76G>T (n.*515-76G>T) c.*131-76G>T (n.*131-76G>T) c.264+34G>T (n.264+34G>T) c.534-76G>T (n.534-76G>T) c.471-76G>T (n.471-76G>T) c.540-76G>T (n.540-76G>T) | gnomAD v4 |
1 | g.6474663C= | CA1151507306 | PLEKHG5 | c.303-76G= (n.303-76G=) c.477-76G= (n.477-76G=) c.414-76G= (n.414-76G=) n.703G= c.510-76G= (n.510-76G=) c.600-76G= (n.600-76G=) c.*515-76G= (n.*515-76G=) c.*131-76G= (n.*131-76G=) c.264+34G= (n.264+34G=) c.534-76G= (n.534-76G=) c.471-76G= (n.471-76G=) c.540-76G= (n.540-76G=) | |
1 | g.6474663C>G | CA998179206 | PLEKHG5 | c.303-76G>C (n.303-76G>C) c.477-76G>C (n.477-76G>C) c.414-76G>C (n.414-76G>C) n.703G>C c.510-76G>C (n.510-76G>C) c.600-76G>C (n.600-76G>C) c.*515-76G>C (n.*515-76G>C) c.*131-76G>C (n.*131-76G>C) c.264+34G>C (n.264+34G>C) c.534-76G>C (n.534-76G>C) c.471-76G>C (n.471-76G>C) c.540-76G>C (n.540-76G>C) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.6474663C>T | CA2574193723 | PLEKHG5 | c.303-76G>A (n.303-76G>A) c.477-76G>A (n.477-76G>A) c.414-76G>A (n.414-76G>A) n.703G>A c.510-76G>A (n.510-76G>A) c.600-76G>A (n.600-76G>A) c.*515-76G>A (n.*515-76G>A) c.*131-76G>A (n.*131-76G>A) c.264+34G>A (n.264+34G>A) c.534-76G>A (n.534-76G>A) c.471-76G>A (n.471-76G>A) c.540-76G>A (n.540-76G>A) | gnomAD v4 |
1 | g.6474667_6474668insCCCCCC | CA998179257 | PLEKHG5 | c.303-76_303-75insGGGGGG (n.303-76_303-75insGGGGGG) c.477-76_477-75insGGGGGG (n.477-76_477-75insGGGGGG) c.414-76_414-75insGGGGGG (n.414-76_414-75insGGGGGG) n.703_704insGGGGGG c.510-76_510-75insGGGGGG (n.510-76_510-75insGGGGGG) c.600-76_600-75insGGGGGG (n.600-76_600-75insGGGGGG) c.*515-76_*515-75insGGGGGG (n.*515-76_*515-75insGGGGGG) c.*131-76_*131-75insGGGGGG (n.*131-76_*131-75insGGGGGG) c.264+34_264+35insGGGGGG (n.264+34_264+35insGGGGGG) c.534-76_534-75insGGGGGG (n.534-76_534-75insGGGGGG) c.471-76_471-75insGGGGGG (n.471-76_471-75insGGGGGG) c.540-76_540-75insGGGGGG (n.540-76_540-75insGGGGGG) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.6474667_6474668insCCCCCCC | CA520766035 | PLEKHG5 | c.303-76_303-75insGGGGGGG (n.303-76_303-75insGGGGGGG) c.477-76_477-75insGGGGGGG (n.477-76_477-75insGGGGGGG) c.414-76_414-75insGGGGGGG (n.414-76_414-75insGGGGGGG) n.703_704insGGGGGGG c.510-76_510-75insGGGGGGG (n.510-76_510-75insGGGGGGG) c.600-76_600-75insGGGGGGG (n.600-76_600-75insGGGGGGG) c.*515-76_*515-75insGGGGGGG (n.*515-76_*515-75insGGGGGGG) c.*131-76_*131-75insGGGGGGG (n.*131-76_*131-75insGGGGGGG) c.264+34_264+35insGGGGGGG (n.264+34_264+35insGGGGGGG) c.534-76_534-75insGGGGGGG (n.534-76_534-75insGGGGGGG) c.471-76_471-75insGGGGGGG (n.471-76_471-75insGGGGGGG) c.540-76_540-75insGGGGGGG (n.540-76_540-75insGGGGGGG) | gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474667_6474668insCCCCCCCC | CA998179261 | PLEKHG5 | c.303-76_303-75insGGGGGGGG (n.303-76_303-75insGGGGGGGG) c.477-76_477-75insGGGGGGGG (n.477-76_477-75insGGGGGGGG) c.414-76_414-75insGGGGGGGG (n.414-76_414-75insGGGGGGGG) n.703_704insGGGGGGGG c.510-76_510-75insGGGGGGGG (n.510-76_510-75insGGGGGGGG) c.600-76_600-75insGGGGGGGG (n.600-76_600-75insGGGGGGGG) c.*515-76_*515-75insGGGGGGGG (n.*515-76_*515-75insGGGGGGGG) c.*131-76_*131-75insGGGGGGGG (n.*131-76_*131-75insGGGGGGGG) c.264+34_264+35insGGGGGGGG (n.264+34_264+35insGGGGGGGG) c.534-76_534-75insGGGGGGGG (n.534-76_534-75insGGGGGGGG) c.471-76_471-75insGGGGGGGG (n.471-76_471-75insGGGGGGGG) c.540-76_540-75insGGGGGGGG (n.540-76_540-75insGGGGGGGG) | gnomAD v3 gnomAD v4 |
1 | g.6474667_6474668insCCCCCCCCC | CA2642979829 | PLEKHG5 | c.303-76_303-75insGGGGGGGGG (n.303-76_303-75insGGGGGGGGG) c.477-76_477-75insGGGGGGGGG (n.477-76_477-75insGGGGGGGGG) c.414-76_414-75insGGGGGGGGG (n.414-76_414-75insGGGGGGGGG) n.703_704insGGGGGGGGG c.510-76_510-75insGGGGGGGGG (n.510-76_510-75insGGGGGGGGG) c.600-76_600-75insGGGGGGGGG (n.600-76_600-75insGGGGGGGGG) c.*515-76_*515-75insGGGGGGGGG (n.*515-76_*515-75insGGGGGGGGG) c.*131-76_*131-75insGGGGGGGGG (n.*131-76_*131-75insGGGGGGGGG) c.264+34_264+35insGGGGGGGGG (n.264+34_264+35insGGGGGGGGG) c.534-76_534-75insGGGGGGGGG (n.534-76_534-75insGGGGGGGGG) c.471-76_471-75insGGGGGGGGG (n.471-76_471-75insGGGGGGGGG) c.540-76_540-75insGGGGGGGGG (n.540-76_540-75insGGGGGGGGG) | gnomAD v4 |
1 | g.6474667_6474668insCCCCCCCCCC | CA2742323568 | PLEKHG5 | c.303-76_303-75insGGGGGGGGGG (n.303-76_303-75insGGGGGGGGGG) c.477-76_477-75insGGGGGGGGGG (n.477-76_477-75insGGGGGGGGGG) c.414-76_414-75insGGGGGGGGGG (n.414-76_414-75insGGGGGGGGGG) n.703_704insGGGGGGGGGG c.510-76_510-75insGGGGGGGGGG (n.510-76_510-75insGGGGGGGGGG) c.600-76_600-75insGGGGGGGGGG (n.600-76_600-75insGGGGGGGGGG) c.*515-76_*515-75insGGGGGGGGGG (n.*515-76_*515-75insGGGGGGGGGG) c.*131-76_*131-75insGGGGGGGGGG (n.*131-76_*131-75insGGGGGGGGGG) c.264+34_264+35insGGGGGGGGGG (n.264+34_264+35insGGGGGGGGGG) c.534-76_534-75insGGGGGGGGGG (n.534-76_534-75insGGGGGGGGGG) c.471-76_471-75insGGGGGGGGGG (n.471-76_471-75insGGGGGGGGGG) c.540-76_540-75insGGGGGGGGGG (n.540-76_540-75insGGGGGGGGGG) | |
1 | g.6474667_6474668insCCCCCCCCCCC | CA2642979833 | PLEKHG5 | c.303-76_303-75insGGGGGGGGGGG (n.303-76_303-75insGGGGGGGGGGG) c.477-76_477-75insGGGGGGGGGGG (n.477-76_477-75insGGGGGGGGGGG) c.414-76_414-75insGGGGGGGGGGG (n.414-76_414-75insGGGGGGGGGGG) n.703_704insGGGGGGGGGGG c.510-76_510-75insGGGGGGGGGGG (n.510-76_510-75insGGGGGGGGGGG) c.600-76_600-75insGGGGGGGGGGG (n.600-76_600-75insGGGGGGGGGGG) c.*515-76_*515-75insGGGGGGGGGGG (n.*515-76_*515-75insGGGGGGGGGGG) c.*131-76_*131-75insGGGGGGGGGGG (n.*131-76_*131-75insGGGGGGGGGGG) c.264+34_264+35insGGGGGGGGGGG (n.264+34_264+35insGGGGGGGGGGG) c.534-76_534-75insGGGGGGGGGGG (n.534-76_534-75insGGGGGGGGGGG) c.471-76_471-75insGGGGGGGGGGG (n.471-76_471-75insGGGGGGGGGGG) c.540-76_540-75insGGGGGGGGGGG (n.540-76_540-75insGGGGGGGGGGG) | gnomAD v4 |
1 | g.6474667_6474668insCCCCCCCCCCCC | CA998179263 | PLEKHG5 | c.303-76_303-75insGGGGGGGGGGGG (n.303-76_303-75insGGGGGGGGGGGG) c.477-76_477-75insGGGGGGGGGGGG (n.477-76_477-75insGGGGGGGGGGGG) c.414-76_414-75insGGGGGGGGGGGG (n.414-76_414-75insGGGGGGGGGGGG) n.703_704insGGGGGGGGGGGG c.510-76_510-75insGGGGGGGGGGGG (n.510-76_510-75insGGGGGGGGGGGG) c.600-76_600-75insGGGGGGGGGGGG (n.600-76_600-75insGGGGGGGGGGGG) c.*515-76_*515-75insGGGGGGGGGGGG (n.*515-76_*515-75insGGGGGGGGGGGG) c.*131-76_*131-75insGGGGGGGGGGGG (n.*131-76_*131-75insGGGGGGGGGGGG) c.264+34_264+35insGGGGGGGGGGGG (n.264+34_264+35insGGGGGGGGGGGG) c.534-76_534-75insGGGGGGGGGGGG (n.534-76_534-75insGGGGGGGGGGGG) c.471-76_471-75insGGGGGGGGGGGG (n.471-76_471-75insGGGGGGGGGGGG) c.540-76_540-75insGGGGGGGGGGGG (n.540-76_540-75insGGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
1 | g.6474667_6474668insCCCCCCCCCCCCC | CA998179270 | PLEKHG5 | c.303-76_303-75insGGGGGGGGGGGGG (n.303-76_303-75insGGGGGGGGGGGGG) c.477-76_477-75insGGGGGGGGGGGGG (n.477-76_477-75insGGGGGGGGGGGGG) c.414-76_414-75insGGGGGGGGGGGGG (n.414-76_414-75insGGGGGGGGGGGGG) n.703_704insGGGGGGGGGGGGG c.510-76_510-75insGGGGGGGGGGGGG (n.510-76_510-75insGGGGGGGGGGGGG) c.600-76_600-75insGGGGGGGGGGGGG (n.600-76_600-75insGGGGGGGGGGGGG) c.*515-76_*515-75insGGGGGGGGGGGGG (n.*515-76_*515-75insGGGGGGGGGGGGG) c.*131-76_*131-75insGGGGGGGGGGGGG (n.*131-76_*131-75insGGGGGGGGGGGGG) c.264+34_264+35insGGGGGGGGGGGGG (n.264+34_264+35insGGGGGGGGGGGGG) c.534-76_534-75insGGGGGGGGGGGGG (n.534-76_534-75insGGGGGGGGGGGGG) c.471-76_471-75insGGGGGGGGGGGGG (n.471-76_471-75insGGGGGGGGGGGGG) c.540-76_540-75insGGGGGGGGGGGGG (n.540-76_540-75insGGGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
1 | g.6474667_6474668insCCCCCCCCCCCCCC | CA2642979839 | PLEKHG5 | c.303-76_303-75insGGGGGGGGGGGGGG (n.303-76_303-75insGGGGGGGGGGGGGG) c.477-76_477-75insGGGGGGGGGGGGGG (n.477-76_477-75insGGGGGGGGGGGGGG) c.414-76_414-75insGGGGGGGGGGGGGG (n.414-76_414-75insGGGGGGGGGGGGGG) n.703_704insGGGGGGGGGGGGGG c.510-76_510-75insGGGGGGGGGGGGGG (n.510-76_510-75insGGGGGGGGGGGGGG) c.600-76_600-75insGGGGGGGGGGGGGG (n.600-76_600-75insGGGGGGGGGGGGGG) c.*515-76_*515-75insGGGGGGGGGGGGGG (n.*515-76_*515-75insGGGGGGGGGGGGGG) c.*131-76_*131-75insGGGGGGGGGGGGGG (n.*131-76_*131-75insGGGGGGGGGGGGGG) c.264+34_264+35insGGGGGGGGGGGGGG (n.264+34_264+35insGGGGGGGGGGGGGG) c.534-76_534-75insGGGGGGGGGGGGGG (n.534-76_534-75insGGGGGGGGGGGGGG) c.471-76_471-75insGGGGGGGGGGGGGG (n.471-76_471-75insGGGGGGGGGGGGGG) c.540-76_540-75insGGGGGGGGGGGGGG (n.540-76_540-75insGGGGGGGGGGGGGG) | gnomAD v4 |
1 | g.6474667_6474668insCCCCCCCCCCCCCCCC | CA2509496594 | PLEKHG5 | c.303-76_303-75insGGGGGGGGGGGGGGGG (n.303-76_303-75insGGGGGGGGGGGGGGGG) c.477-76_477-75insGGGGGGGGGGGGGGGG (n.477-76_477-75insGGGGGGGGGGGGGGGG) c.414-76_414-75insGGGGGGGGGGGGGGGG (n.414-76_414-75insGGGGGGGGGGGGGGGG) n.703_704insGGGGGGGGGGGGGGGG c.510-76_510-75insGGGGGGGGGGGGGGGG (n.510-76_510-75insGGGGGGGGGGGGGGGG) c.600-76_600-75insGGGGGGGGGGGGGGGG (n.600-76_600-75insGGGGGGGGGGGGGGGG) c.*515-76_*515-75insGGGGGGGGGGGGGGGG (n.*515-76_*515-75insGGGGGGGGGGGGGGGG) c.*131-76_*131-75insGGGGGGGGGGGGGGGG (n.*131-76_*131-75insGGGGGGGGGGGGGGGG) c.264+34_264+35insGGGGGGGGGGGGGGGG (n.264+34_264+35insGGGGGGGGGGGGGGGG) c.534-76_534-75insGGGGGGGGGGGGGGGG (n.534-76_534-75insGGGGGGGGGGGGGGGG) c.471-76_471-75insGGGGGGGGGGGGGGGG (n.471-76_471-75insGGGGGGGGGGGGGGGG) c.540-76_540-75insGGGGGGGGGGGGGGGG (n.540-76_540-75insGGGGGGGGGGGGGGGG) | |
1 | g.6474667_6474668insCCCCCCCCCCCCACCCCC | CA2642979880 | PLEKHG5 | c.303-76_303-75insTGGGGGGGGGGGGGGGGG (n.303-76_303-75insTGGGGGGGGGGGGGGGGG) c.477-76_477-75insTGGGGGGGGGGGGGGGGG (n.477-76_477-75insTGGGGGGGGGGGGGGGGG) c.414-76_414-75insTGGGGGGGGGGGGGGGGG (n.414-76_414-75insTGGGGGGGGGGGGGGGGG) n.703_704insTGGGGGGGGGGGGGGGGG c.510-76_510-75insTGGGGGGGGGGGGGGGGG (n.510-76_510-75insTGGGGGGGGGGGGGGGGG) c.600-76_600-75insTGGGGGGGGGGGGGGGGG (n.600-76_600-75insTGGGGGGGGGGGGGGGGG) c.*515-76_*515-75insTGGGGGGGGGGGGGGGGG (n.*515-76_*515-75insTGGGGGGGGGGGGGGGGG) c.*131-76_*131-75insTGGGGGGGGGGGGGGGGG (n.*131-76_*131-75insTGGGGGGGGGGGGGGGGG) c.264+34_264+35insTGGGGGGGGGGGGGGGGG (n.264+34_264+35insTGGGGGGGGGGGGGGGGG) c.534-76_534-75insTGGGGGGGGGGGGGGGGG (n.534-76_534-75insTGGGGGGGGGGGGGGGGG) c.471-76_471-75insTGGGGGGGGGGGGGGGGG (n.471-76_471-75insTGGGGGGGGGGGGGGGGG) c.540-76_540-75insTGGGGGGGGGGGGGGGGG (n.540-76_540-75insTGGGGGGGGGGGGGGGGG) | gnomAD v4 |
1 | g.6474667_6474668insCCCCCCCCCCCCCCCCCCC | CA998179273 | PLEKHG5 | c.303-76_303-75insGGGGGGGGGGGGGGGGGGG (n.303-76_303-75insGGGGGGGGGGGGGGGGGGG) c.477-76_477-75insGGGGGGGGGGGGGGGGGGG (n.477-76_477-75insGGGGGGGGGGGGGGGGGGG) c.414-76_414-75insGGGGGGGGGGGGGGGGGGG (n.414-76_414-75insGGGGGGGGGGGGGGGGGGG) n.703_704insGGGGGGGGGGGGGGGGGGG c.510-76_510-75insGGGGGGGGGGGGGGGGGGG (n.510-76_510-75insGGGGGGGGGGGGGGGGGGG) c.600-76_600-75insGGGGGGGGGGGGGGGGGGG (n.600-76_600-75insGGGGGGGGGGGGGGGGGGG) c.*515-76_*515-75insGGGGGGGGGGGGGGGGGGG (n.*515-76_*515-75insGGGGGGGGGGGGGGGGGGG) c.*131-76_*131-75insGGGGGGGGGGGGGGGGGGG (n.*131-76_*131-75insGGGGGGGGGGGGGGGGGGG) c.264+34_264+35insGGGGGGGGGGGGGGGGGGG (n.264+34_264+35insGGGGGGGGGGGGGGGGGGG) c.534-76_534-75insGGGGGGGGGGGGGGGGGGG (n.534-76_534-75insGGGGGGGGGGGGGGGGGGG) c.471-76_471-75insGGGGGGGGGGGGGGGGGGG (n.471-76_471-75insGGGGGGGGGGGGGGGGGGG) c.540-76_540-75insGGGGGGGGGGGGGGGGGGG (n.540-76_540-75insGGGGGGGGGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
1 | g.6474667_6474668insCCCCCCCCCCCAACCCCCCCC | CA2642979849 | PLEKHG5 | c.303-76_303-75insGGGTTGGGGGGGGGGGGGGGG (n.303-76_303-75insGGGTTGGGGGGGGGGGGGGGG) c.477-76_477-75insGGGTTGGGGGGGGGGGGGGGG (n.477-76_477-75insGGGTTGGGGGGGGGGGGGGGG) c.414-76_414-75insGGGTTGGGGGGGGGGGGGGGG (n.414-76_414-75insGGGTTGGGGGGGGGGGGGGGG) n.703_704insGGGTTGGGGGGGGGGGGGGGG c.510-76_510-75insGGGTTGGGGGGGGGGGGGGGG (n.510-76_510-75insGGGTTGGGGGGGGGGGGGGGG) c.600-76_600-75insGGGTTGGGGGGGGGGGGGGGG (n.600-76_600-75insGGGTTGGGGGGGGGGGGGGGG) c.*515-76_*515-75insGGGTTGGGGGGGGGGGGGGGG (n.*515-76_*515-75insGGGTTGGGGGGGGGGGGGGGG) c.*131-76_*131-75insGGGTTGGGGGGGGGGGGGGGG (n.*131-76_*131-75insGGGTTGGGGGGGGGGGGGGGG) c.264+34_264+35insGGGTTGGGGGGGGGGGGGGGG (n.264+34_264+35insGGGTTGGGGGGGGGGGGGGGG) c.534-76_534-75insGGGTTGGGGGGGGGGGGGGGG (n.534-76_534-75insGGGTTGGGGGGGGGGGGGGGG) c.471-76_471-75insGGGTTGGGGGGGGGGGGGGGG (n.471-76_471-75insGGGTTGGGGGGGGGGGGGGGG) c.540-76_540-75insGGGTTGGGGGGGGGGGGGGGG (n.540-76_540-75insGGGTTGGGGGGGGGGGGGGGG) | gnomAD v4 |
1 | g.6474667_6474668insCCCCCCCCCCCACCCCCCCCC | CA2642979858 | PLEKHG5 | c.303-76_303-75insGGGGTGGGGGGGGGGGGGGGG (n.303-76_303-75insGGGGTGGGGGGGGGGGGGGGG) c.477-76_477-75insGGGGTGGGGGGGGGGGGGGGG (n.477-76_477-75insGGGGTGGGGGGGGGGGGGGGG) c.414-76_414-75insGGGGTGGGGGGGGGGGGGGGG (n.414-76_414-75insGGGGTGGGGGGGGGGGGGGGG) n.703_704insGGGGTGGGGGGGGGGGGGGGG c.510-76_510-75insGGGGTGGGGGGGGGGGGGGGG (n.510-76_510-75insGGGGTGGGGGGGGGGGGGGGG) c.600-76_600-75insGGGGTGGGGGGGGGGGGGGGG (n.600-76_600-75insGGGGTGGGGGGGGGGGGGGGG) c.*515-76_*515-75insGGGGTGGGGGGGGGGGGGGGG (n.*515-76_*515-75insGGGGTGGGGGGGGGGGGGGGG) c.*131-76_*131-75insGGGGTGGGGGGGGGGGGGGGG (n.*131-76_*131-75insGGGGTGGGGGGGGGGGGGGGG) c.264+34_264+35insGGGGTGGGGGGGGGGGGGGGG (n.264+34_264+35insGGGGTGGGGGGGGGGGGGGGG) c.534-76_534-75insGGGGTGGGGGGGGGGGGGGGG (n.534-76_534-75insGGGGTGGGGGGGGGGGGGGGG) c.471-76_471-75insGGGGTGGGGGGGGGGGGGGGG (n.471-76_471-75insGGGGTGGGGGGGGGGGGGGGG) c.540-76_540-75insGGGGTGGGGGGGGGGGGGGGG (n.540-76_540-75insGGGGTGGGGGGGGGGGGGGGG) | gnomAD v4 |
1 | g.6474667_6474668insCCCCCCCCCCCCACCCCCCCC | CA2642979888 | PLEKHG5 | c.303-76_303-75insGGGTGGGGGGGGGGGGGGGGG (n.303-76_303-75insGGGTGGGGGGGGGGGGGGGGG) c.477-76_477-75insGGGTGGGGGGGGGGGGGGGGG (n.477-76_477-75insGGGTGGGGGGGGGGGGGGGGG) c.414-76_414-75insGGGTGGGGGGGGGGGGGGGGG (n.414-76_414-75insGGGTGGGGGGGGGGGGGGGGG) n.703_704insGGGTGGGGGGGGGGGGGGGGG c.510-76_510-75insGGGTGGGGGGGGGGGGGGGGG (n.510-76_510-75insGGGTGGGGGGGGGGGGGGGGG) c.600-76_600-75insGGGTGGGGGGGGGGGGGGGGG (n.600-76_600-75insGGGTGGGGGGGGGGGGGGGGG) c.*515-76_*515-75insGGGTGGGGGGGGGGGGGGGGG (n.*515-76_*515-75insGGGTGGGGGGGGGGGGGGGGG) c.*131-76_*131-75insGGGTGGGGGGGGGGGGGGGGG (n.*131-76_*131-75insGGGTGGGGGGGGGGGGGGGGG) c.264+34_264+35insGGGTGGGGGGGGGGGGGGGGG (n.264+34_264+35insGGGTGGGGGGGGGGGGGGGGG) c.534-76_534-75insGGGTGGGGGGGGGGGGGGGGG (n.534-76_534-75insGGGTGGGGGGGGGGGGGGGGG) c.471-76_471-75insGGGTGGGGGGGGGGGGGGGGG (n.471-76_471-75insGGGTGGGGGGGGGGGGGGGGG) c.540-76_540-75insGGGTGGGGGGGGGGGGGGGGG (n.540-76_540-75insGGGTGGGGGGGGGGGGGGGGG) | dbSNP gnomAD v4 |
1 | g.6474667_6474668insCCCCCCCCCCCCCCCCCCCCC | CA998179275 | PLEKHG5 | c.303-76_303-75insGGGGGGGGGGGGGGGGGGGGG (n.303-76_303-75insGGGGGGGGGGGGGGGGGGGGG) c.477-76_477-75insGGGGGGGGGGGGGGGGGGGGG (n.477-76_477-75insGGGGGGGGGGGGGGGGGGGGG) c.414-76_414-75insGGGGGGGGGGGGGGGGGGGGG (n.414-76_414-75insGGGGGGGGGGGGGGGGGGGGG) n.703_704insGGGGGGGGGGGGGGGGGGGGG c.510-76_510-75insGGGGGGGGGGGGGGGGGGGGG (n.510-76_510-75insGGGGGGGGGGGGGGGGGGGGG) c.600-76_600-75insGGGGGGGGGGGGGGGGGGGGG (n.600-76_600-75insGGGGGGGGGGGGGGGGGGGGG) c.*515-76_*515-75insGGGGGGGGGGGGGGGGGGGGG (n.*515-76_*515-75insGGGGGGGGGGGGGGGGGGGGG) c.*131-76_*131-75insGGGGGGGGGGGGGGGGGGGGG (n.*131-76_*131-75insGGGGGGGGGGGGGGGGGGGGG) c.264+34_264+35insGGGGGGGGGGGGGGGGGGGGG (n.264+34_264+35insGGGGGGGGGGGGGGGGGGGGG) c.534-76_534-75insGGGGGGGGGGGGGGGGGGGGG (n.534-76_534-75insGGGGGGGGGGGGGGGGGGGGG) c.471-76_471-75insGGGGGGGGGGGGGGGGGGGGG (n.471-76_471-75insGGGGGGGGGGGGGGGGGGGGG) c.540-76_540-75insGGGGGGGGGGGGGGGGGGGGG (n.540-76_540-75insGGGGGGGGGGGGGGGGGGGGG) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.6474667_6474668insCCCCCCCTCCCCCCCCCCCCC | CA2642979718 | PLEKHG5 | c.303-76_303-75insGGGGGGGGAGGGGGGGGGGGG (n.303-76_303-75insGGGGGGGGAGGGGGGGGGGGG) c.477-76_477-75insGGGGGGGGAGGGGGGGGGGGG (n.477-76_477-75insGGGGGGGGAGGGGGGGGGGGG) c.414-76_414-75insGGGGGGGGAGGGGGGGGGGGG (n.414-76_414-75insGGGGGGGGAGGGGGGGGGGGG) n.703_704insGGGGGGGGAGGGGGGGGGGGG c.510-76_510-75insGGGGGGGGAGGGGGGGGGGGG (n.510-76_510-75insGGGGGGGGAGGGGGGGGGGGG) c.600-76_600-75insGGGGGGGGAGGGGGGGGGGGG (n.600-76_600-75insGGGGGGGGAGGGGGGGGGGGG) c.*515-76_*515-75insGGGGGGGGAGGGGGGGGGGGG (n.*515-76_*515-75insGGGGGGGGAGGGGGGGGGGGG) c.*131-76_*131-75insGGGGGGGGAGGGGGGGGGGGG (n.*131-76_*131-75insGGGGGGGGAGGGGGGGGGGGG) c.264+34_264+35insGGGGGGGGAGGGGGGGGGGGG (n.264+34_264+35insGGGGGGGGAGGGGGGGGGGGG) c.534-76_534-75insGGGGGGGGAGGGGGGGGGGGG (n.534-76_534-75insGGGGGGGGAGGGGGGGGGGGG) c.471-76_471-75insGGGGGGGGAGGGGGGGGGGGG (n.471-76_471-75insGGGGGGGGAGGGGGGGGGGGG) c.540-76_540-75insGGGGGGGGAGGGGGGGGGGGG (n.540-76_540-75insGGGGGGGGAGGGGGGGGGGGG) | gnomAD v4 |
1 | g.6474667_6474668insCCCCCCCCCCCCCCCCCCCCCC | CA2642979906 | PLEKHG5 | c.303-76_303-75insGGGGGGGGGGGGGGGGGGGGGG (n.303-76_303-75insGGGGGGGGGGGGGGGGGGGGGG) c.477-76_477-75insGGGGGGGGGGGGGGGGGGGGGG (n.477-76_477-75insGGGGGGGGGGGGGGGGGGGGGG) c.414-76_414-75insGGGGGGGGGGGGGGGGGGGGGG (n.414-76_414-75insGGGGGGGGGGGGGGGGGGGGGG) n.703_704insGGGGGGGGGGGGGGGGGGGGGG c.510-76_510-75insGGGGGGGGGGGGGGGGGGGGGG (n.510-76_510-75insGGGGGGGGGGGGGGGGGGGGGG) c.600-76_600-75insGGGGGGGGGGGGGGGGGGGGGG (n.600-76_600-75insGGGGGGGGGGGGGGGGGGGGGG) c.*515-76_*515-75insGGGGGGGGGGGGGGGGGGGGGG (n.*515-76_*515-75insGGGGGGGGGGGGGGGGGGGGGG) c.*131-76_*131-75insGGGGGGGGGGGGGGGGGGGGGG (n.*131-76_*131-75insGGGGGGGGGGGGGGGGGGGGGG) c.264+34_264+35insGGGGGGGGGGGGGGGGGGGGGG (n.264+34_264+35insGGGGGGGGGGGGGGGGGGGGGG) c.534-76_534-75insGGGGGGGGGGGGGGGGGGGGGG (n.534-76_534-75insGGGGGGGGGGGGGGGGGGGGGG) c.471-76_471-75insGGGGGGGGGGGGGGGGGGGGGG (n.471-76_471-75insGGGGGGGGGGGGGGGGGGGGGG) c.540-76_540-75insGGGGGGGGGGGGGGGGGGGGGG (n.540-76_540-75insGGGGGGGGGGGGGGGGGGGGGG) | dbSNP gnomAD v4 |
1 | g.6474667_6474668insCCCCCCCCCCCCACCCCCCCCCCCC | CA2642979896 | PLEKHG5 | c.303-76_303-75insGGGGGGGTGGGGGGGGGGGGGGGGG (n.303-76_303-75insGGGGGGGTGGGGGGGGGGGGGGGGG) c.477-76_477-75insGGGGGGGTGGGGGGGGGGGGGGGGG (n.477-76_477-75insGGGGGGGTGGGGGGGGGGGGGGGGG) c.414-76_414-75insGGGGGGGTGGGGGGGGGGGGGGGGG (n.414-76_414-75insGGGGGGGTGGGGGGGGGGGGGGGGG) n.703_704insGGGGGGGTGGGGGGGGGGGGGGGGG c.510-76_510-75insGGGGGGGTGGGGGGGGGGGGGGGGG (n.510-76_510-75insGGGGGGGTGGGGGGGGGGGGGGGGG) c.600-76_600-75insGGGGGGGTGGGGGGGGGGGGGGGGG (n.600-76_600-75insGGGGGGGTGGGGGGGGGGGGGGGGG) c.*515-76_*515-75insGGGGGGGTGGGGGGGGGGGGGGGGG (n.*515-76_*515-75insGGGGGGGTGGGGGGGGGGGGGGGGG) c.*131-76_*131-75insGGGGGGGTGGGGGGGGGGGGGGGGG (n.*131-76_*131-75insGGGGGGGTGGGGGGGGGGGGGGGGG) c.264+34_264+35insGGGGGGGTGGGGGGGGGGGGGGGGG (n.264+34_264+35insGGGGGGGTGGGGGGGGGGGGGGGGG) c.534-76_534-75insGGGGGGGTGGGGGGGGGGGGGGGGG (n.534-76_534-75insGGGGGGGTGGGGGGGGGGGGGGGGG) c.471-76_471-75insGGGGGGGTGGGGGGGGGGGGGGGGG (n.471-76_471-75insGGGGGGGTGGGGGGGGGGGGGGGGG) c.540-76_540-75insGGGGGGGTGGGGGGGGGGGGGGGGG (n.540-76_540-75insGGGGGGGTGGGGGGGGGGGGGGGGG) | gnomAD v4 |
1 | g.6474667_6474668insCCCCCCCCCCCCCCCCCCCCCCCCC | CA2592134467 | PLEKHG5 | c.303-76_303-75insGGGGGGGGGGGGGGGGGGGGGGGGG (n.303-76_303-75insGGGGGGGGGGGGGGGGGGGGGGGGG) c.477-76_477-75insGGGGGGGGGGGGGGGGGGGGGGGGG (n.477-76_477-75insGGGGGGGGGGGGGGGGGGGGGGGGG) c.414-76_414-75insGGGGGGGGGGGGGGGGGGGGGGGGG (n.414-76_414-75insGGGGGGGGGGGGGGGGGGGGGGGGG) n.703_704insGGGGGGGGGGGGGGGGGGGGGGGGG c.510-76_510-75insGGGGGGGGGGGGGGGGGGGGGGGGG (n.510-76_510-75insGGGGGGGGGGGGGGGGGGGGGGGGG) c.600-76_600-75insGGGGGGGGGGGGGGGGGGGGGGGGG (n.600-76_600-75insGGGGGGGGGGGGGGGGGGGGGGGGG) c.*515-76_*515-75insGGGGGGGGGGGGGGGGGGGGGGGGG (n.*515-76_*515-75insGGGGGGGGGGGGGGGGGGGGGGGGG) c.*131-76_*131-75insGGGGGGGGGGGGGGGGGGGGGGGGG (n.*131-76_*131-75insGGGGGGGGGGGGGGGGGGGGGGGGG) c.264+34_264+35insGGGGGGGGGGGGGGGGGGGGGGGGG (n.264+34_264+35insGGGGGGGGGGGGGGGGGGGGGGGGG) c.534-76_534-75insGGGGGGGGGGGGGGGGGGGGGGGGG (n.534-76_534-75insGGGGGGGGGGGGGGGGGGGGGGGGG) c.471-76_471-75insGGGGGGGGGGGGGGGGGGGGGGGGG (n.471-76_471-75insGGGGGGGGGGGGGGGGGGGGGGGGG) c.540-76_540-75insGGGGGGGGGGGGGGGGGGGGGGGGG (n.540-76_540-75insGGGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
1 | g.6474667_6474668insCCCCCCCCCCCCCCCCCCCCCCCCCC | CA2522966200 | PLEKHG5 | c.303-76_303-75insGGGGGGGGGGGGGGGGGGGGGGGGGG (n.303-76_303-75insGGGGGGGGGGGGGGGGGGGGGGGGGG) c.477-76_477-75insGGGGGGGGGGGGGGGGGGGGGGGGGG (n.477-76_477-75insGGGGGGGGGGGGGGGGGGGGGGGGGG) c.414-76_414-75insGGGGGGGGGGGGGGGGGGGGGGGGGG (n.414-76_414-75insGGGGGGGGGGGGGGGGGGGGGGGGGG) n.703_704insGGGGGGGGGGGGGGGGGGGGGGGGGG c.510-76_510-75insGGGGGGGGGGGGGGGGGGGGGGGGGG (n.510-76_510-75insGGGGGGGGGGGGGGGGGGGGGGGGGG) c.600-76_600-75insGGGGGGGGGGGGGGGGGGGGGGGGGG (n.600-76_600-75insGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*515-76_*515-75insGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*515-76_*515-75insGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*131-76_*131-75insGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*131-76_*131-75insGGGGGGGGGGGGGGGGGGGGGGGGGG) c.264+34_264+35insGGGGGGGGGGGGGGGGGGGGGGGGGG (n.264+34_264+35insGGGGGGGGGGGGGGGGGGGGGGGGGG) c.534-76_534-75insGGGGGGGGGGGGGGGGGGGGGGGGGG (n.534-76_534-75insGGGGGGGGGGGGGGGGGGGGGGGGGG) c.471-76_471-75insGGGGGGGGGGGGGGGGGGGGGGGGGG (n.471-76_471-75insGGGGGGGGGGGGGGGGGGGGGGGGGG) c.540-76_540-75insGGGGGGGGGGGGGGGGGGGGGGGGGG (n.540-76_540-75insGGGGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
1 | g.6474667_6474668insCCCCCCCCCCCCACCCCCCCCCCCCCC | CA2642979901 | PLEKHG5 | c.303-76_303-75insGGGGGGGGGTGGGGGGGGGGGGGGGGG (n.303-76_303-75insGGGGGGGGGTGGGGGGGGGGGGGGGGG) c.477-76_477-75insGGGGGGGGGTGGGGGGGGGGGGGGGGG (n.477-76_477-75insGGGGGGGGGTGGGGGGGGGGGGGGGGG) c.414-76_414-75insGGGGGGGGGTGGGGGGGGGGGGGGGGG (n.414-76_414-75insGGGGGGGGGTGGGGGGGGGGGGGGGGG) n.703_704insGGGGGGGGGTGGGGGGGGGGGGGGGGG c.510-76_510-75insGGGGGGGGGTGGGGGGGGGGGGGGGGG (n.510-76_510-75insGGGGGGGGGTGGGGGGGGGGGGGGGGG) c.600-76_600-75insGGGGGGGGGTGGGGGGGGGGGGGGGGG (n.600-76_600-75insGGGGGGGGGTGGGGGGGGGGGGGGGGG) c.*515-76_*515-75insGGGGGGGGGTGGGGGGGGGGGGGGGGG (n.*515-76_*515-75insGGGGGGGGGTGGGGGGGGGGGGGGGGG) c.*131-76_*131-75insGGGGGGGGGTGGGGGGGGGGGGGGGGG (n.*131-76_*131-75insGGGGGGGGGTGGGGGGGGGGGGGGGGG) c.264+34_264+35insGGGGGGGGGTGGGGGGGGGGGGGGGGG (n.264+34_264+35insGGGGGGGGGTGGGGGGGGGGGGGGGGG) c.534-76_534-75insGGGGGGGGGTGGGGGGGGGGGGGGGGG (n.534-76_534-75insGGGGGGGGGTGGGGGGGGGGGGGGGGG) c.471-76_471-75insGGGGGGGGGTGGGGGGGGGGGGGGGGG (n.471-76_471-75insGGGGGGGGGTGGGGGGGGGGGGGGGGG) c.540-76_540-75insGGGGGGGGGTGGGGGGGGGGGGGGGGG (n.540-76_540-75insGGGGGGGGGTGGGGGGGGGGGGGGGGG) | gnomAD v4 |
1 | g.6474667_6474668insCCCCCCCCCCCCCCCCCCCCCCCCCCC | CA2557982706 | PLEKHG5 | c.303-76_303-75insGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.303-76_303-75insGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.477-76_477-75insGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.477-76_477-75insGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.414-76_414-75insGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.414-76_414-75insGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.703_704insGGGGGGGGGGGGGGGGGGGGGGGGGGG c.510-76_510-75insGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.510-76_510-75insGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.600-76_600-75insGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.600-76_600-75insGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*515-76_*515-75insGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*515-76_*515-75insGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*131-76_*131-75insGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*131-76_*131-75insGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.264+34_264+35insGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.264+34_264+35insGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.534-76_534-75insGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.534-76_534-75insGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.471-76_471-75insGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.471-76_471-75insGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.540-76_540-75insGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.540-76_540-75insGGGGGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
1 | g.6474667_6474668insCCCCCCCCCCCACCCCCCCCCCCCCCC | CA2742323569 | PLEKHG5 | c.303-76_303-75insGGGGGGGGGGTGGGGGGGGGGGGGGGG (n.303-76_303-75insGGGGGGGGGGTGGGGGGGGGGGGGGGG) c.477-76_477-75insGGGGGGGGGGTGGGGGGGGGGGGGGGG (n.477-76_477-75insGGGGGGGGGGTGGGGGGGGGGGGGGGG) c.414-76_414-75insGGGGGGGGGGTGGGGGGGGGGGGGGGG (n.414-76_414-75insGGGGGGGGGGTGGGGGGGGGGGGGGGG) n.703_704insGGGGGGGGGGTGGGGGGGGGGGGGGGG c.510-76_510-75insGGGGGGGGGGTGGGGGGGGGGGGGGGG (n.510-76_510-75insGGGGGGGGGGTGGGGGGGGGGGGGGGG) c.600-76_600-75insGGGGGGGGGGTGGGGGGGGGGGGGGGG (n.600-76_600-75insGGGGGGGGGGTGGGGGGGGGGGGGGGG) c.*515-76_*515-75insGGGGGGGGGGTGGGGGGGGGGGGGGGG (n.*515-76_*515-75insGGGGGGGGGGTGGGGGGGGGGGGGGGG) c.*131-76_*131-75insGGGGGGGGGGTGGGGGGGGGGGGGGGG (n.*131-76_*131-75insGGGGGGGGGGTGGGGGGGGGGGGGGGG) c.264+34_264+35insGGGGGGGGGGTGGGGGGGGGGGGGGGG (n.264+34_264+35insGGGGGGGGGGTGGGGGGGGGGGGGGGG) c.534-76_534-75insGGGGGGGGGGTGGGGGGGGGGGGGGGG (n.534-76_534-75insGGGGGGGGGGTGGGGGGGGGGGGGGGG) c.471-76_471-75insGGGGGGGGGGTGGGGGGGGGGGGGGGG (n.471-76_471-75insGGGGGGGGGGTGGGGGGGGGGGGGGGG) c.540-76_540-75insGGGGGGGGGGTGGGGGGGGGGGGGGGG (n.540-76_540-75insGGGGGGGGGGTGGGGGGGGGGGGGGGG) | |
1 | g.6474667_6474668insCCCCCCCCCCCCCCCCCCCCCACCCCC | CA2642979705 | PLEKHG5 | c.303-76_303-75insTGGGGGGGGGGGGGGGGGGGGGGGGGG (n.303-76_303-75insTGGGGGGGGGGGGGGGGGGGGGGGGGG) c.477-76_477-75insTGGGGGGGGGGGGGGGGGGGGGGGGGG (n.477-76_477-75insTGGGGGGGGGGGGGGGGGGGGGGGGGG) c.414-76_414-75insTGGGGGGGGGGGGGGGGGGGGGGGGGG (n.414-76_414-75insTGGGGGGGGGGGGGGGGGGGGGGGGGG) n.703_704insTGGGGGGGGGGGGGGGGGGGGGGGGGG c.510-76_510-75insTGGGGGGGGGGGGGGGGGGGGGGGGGG (n.510-76_510-75insTGGGGGGGGGGGGGGGGGGGGGGGGGG) c.600-76_600-75insTGGGGGGGGGGGGGGGGGGGGGGGGGG (n.600-76_600-75insTGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*515-76_*515-75insTGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*515-76_*515-75insTGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*131-76_*131-75insTGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*131-76_*131-75insTGGGGGGGGGGGGGGGGGGGGGGGGGG) c.264+34_264+35insTGGGGGGGGGGGGGGGGGGGGGGGGGG (n.264+34_264+35insTGGGGGGGGGGGGGGGGGGGGGGGGGG) c.534-76_534-75insTGGGGGGGGGGGGGGGGGGGGGGGGGG (n.534-76_534-75insTGGGGGGGGGGGGGGGGGGGGGGGGGG) c.471-76_471-75insTGGGGGGGGGGGGGGGGGGGGGGGGGG (n.471-76_471-75insTGGGGGGGGGGGGGGGGGGGGGGGGGG) c.540-76_540-75insTGGGGGGGGGGGGGGGGGGGGGGGGGG (n.540-76_540-75insTGGGGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
1 | g.6474667_6474668insCCCCCCCCCCCCCCCCCCCCCCCCCCCC | CA2592134466 | PLEKHG5 | c.303-76_303-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.303-76_303-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.477-76_477-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.477-76_477-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.414-76_414-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.414-76_414-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.703_704insGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.510-76_510-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.510-76_510-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.600-76_600-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.600-76_600-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*515-76_*515-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*515-76_*515-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*131-76_*131-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*131-76_*131-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.264+34_264+35insGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.264+34_264+35insGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.534-76_534-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.534-76_534-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.471-76_471-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.471-76_471-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.540-76_540-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.540-76_540-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
1 | g.6474667_6474668insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC | CA998179235 | PLEKHG5 | c.303-76_303-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.303-76_303-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.477-76_477-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.477-76_477-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.414-76_414-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.414-76_414-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.703_704insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.510-76_510-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.510-76_510-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.600-76_600-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.600-76_600-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*515-76_*515-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*515-76_*515-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*131-76_*131-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*131-76_*131-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.264+34_264+35insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.264+34_264+35insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.534-76_534-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.534-76_534-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.471-76_471-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.471-76_471-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.540-76_540-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.540-76_540-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
1 | g.6474667_6474668insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC | CA998179230 | PLEKHG5 | c.303-76_303-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.303-76_303-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.477-76_477-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.477-76_477-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.414-76_414-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.414-76_414-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.703_704insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.510-76_510-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.510-76_510-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.600-76_600-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.600-76_600-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*515-76_*515-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*515-76_*515-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*131-76_*131-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*131-76_*131-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.264+34_264+35insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.264+34_264+35insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.534-76_534-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.534-76_534-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.471-76_471-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.471-76_471-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.540-76_540-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.540-76_540-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
1 | g.6474667_6474668insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC | CA2742323565 | PLEKHG5 | c.303-76_303-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.303-76_303-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.477-76_477-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.477-76_477-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.414-76_414-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.414-76_414-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.703_704insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.510-76_510-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.510-76_510-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.600-76_600-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.600-76_600-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*515-76_*515-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*515-76_*515-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*131-76_*131-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*131-76_*131-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.264+34_264+35insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.264+34_264+35insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.534-76_534-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.534-76_534-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.471-76_471-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.471-76_471-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.540-76_540-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.540-76_540-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) | |
1 | g.6474667_6474668insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC | CA2607767396 | PLEKHG5 | c.303-76_303-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.303-76_303-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.477-76_477-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.477-76_477-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.414-76_414-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.414-76_414-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.703_704insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.510-76_510-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.510-76_510-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.600-76_600-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.600-76_600-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*515-76_*515-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*515-76_*515-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*131-76_*131-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*131-76_*131-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.264+34_264+35insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.264+34_264+35insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.534-76_534-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.534-76_534-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.471-76_471-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.471-76_471-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.540-76_540-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.540-76_540-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
1 | g.6474667_6474668insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC | CA2742323566 | PLEKHG5 | c.303-76_303-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.303-76_303-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.477-76_477-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.477-76_477-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.414-76_414-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.414-76_414-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.703_704insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.510-76_510-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.510-76_510-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.600-76_600-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.600-76_600-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*515-76_*515-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*515-76_*515-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*131-76_*131-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*131-76_*131-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.264+34_264+35insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.264+34_264+35insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.534-76_534-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.534-76_534-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.471-76_471-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.471-76_471-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.540-76_540-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.540-76_540-75insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) | |
1 | g.6474667_6474668insCCCCCCCCCCCACCCCCCACCCCCCCCCCCCCCCCC | CA2642979866 | PLEKHG5 | c.303-76_303-75insGGGGGGGGGGGGTGGGGGGTGGGGGGGGGGGGGGGG (n.303-76_303-75insGGGGGGGGGGGGTGGGGGGTGGGGGGGGGGGGGGGG) c.477-76_477-75insGGGGGGGGGGGGTGGGGGGTGGGGGGGGGGGGGGGG (n.477-76_477-75insGGGGGGGGGGGGTGGGGGGTGGGGGGGGGGGGGGGG) c.414-76_414-75insGGGGGGGGGGGGTGGGGGGTGGGGGGGGGGGGGGGG (n.414-76_414-75insGGGGGGGGGGGGTGGGGGGTGGGGGGGGGGGGGGGG) n.703_704insGGGGGGGGGGGGTGGGGGGTGGGGGGGGGGGGGGGG c.510-76_510-75insGGGGGGGGGGGGTGGGGGGTGGGGGGGGGGGGGGGG (n.510-76_510-75insGGGGGGGGGGGGTGGGGGGTGGGGGGGGGGGGGGGG) c.600-76_600-75insGGGGGGGGGGGGTGGGGGGTGGGGGGGGGGGGGGGG (n.600-76_600-75insGGGGGGGGGGGGTGGGGGGTGGGGGGGGGGGGGGGG) c.*515-76_*515-75insGGGGGGGGGGGGTGGGGGGTGGGGGGGGGGGGGGGG (n.*515-76_*515-75insGGGGGGGGGGGGTGGGGGGTGGGGGGGGGGGGGGGG) c.*131-76_*131-75insGGGGGGGGGGGGTGGGGGGTGGGGGGGGGGGGGGGG (n.*131-76_*131-75insGGGGGGGGGGGGTGGGGGGTGGGGGGGGGGGGGGGG) c.264+34_264+35insGGGGGGGGGGGGTGGGGGGTGGGGGGGGGGGGGGGG (n.264+34_264+35insGGGGGGGGGGGGTGGGGGGTGGGGGGGGGGGGGGGG) c.534-76_534-75insGGGGGGGGGGGGTGGGGGGTGGGGGGGGGGGGGGGG (n.534-76_534-75insGGGGGGGGGGGGTGGGGGGTGGGGGGGGGGGGGGGG) c.471-76_471-75insGGGGGGGGGGGGTGGGGGGTGGGGGGGGGGGGGGGG (n.471-76_471-75insGGGGGGGGGGGGTGGGGGGTGGGGGGGGGGGGGGGG) c.540-76_540-75insGGGGGGGGGGGGTGGGGGGTGGGGGGGGGGGGGGGG (n.540-76_540-75insGGGGGGGGGGGGTGGGGGGTGGGGGGGGGGGGGGGG) | gnomAD v4 |
1 | g.6474667_6474668insCCCCCCCCCCCCACCCCCCCCCCCCCCCCCCCCCCCC | CA2742323570 | PLEKHG5 | c.303-76_303-75insGGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGG (n.303-76_303-75insGGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGG) c.477-76_477-75insGGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGG (n.477-76_477-75insGGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGG) c.414-76_414-75insGGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGG (n.414-76_414-75insGGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGG) n.703_704insGGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGG c.510-76_510-75insGGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGG (n.510-76_510-75insGGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGG) c.600-76_600-75insGGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGG (n.600-76_600-75insGGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGG) c.*515-76_*515-75insGGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGG (n.*515-76_*515-75insGGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGG) c.*131-76_*131-75insGGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGG (n.*131-76_*131-75insGGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGG) c.264+34_264+35insGGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGG (n.264+34_264+35insGGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGG) c.534-76_534-75insGGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGG (n.534-76_534-75insGGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGG) c.471-76_471-75insGGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGG (n.471-76_471-75insGGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGG) c.540-76_540-75insGGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGG (n.540-76_540-75insGGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGG) | |
1 | g.6474667_6474668insCCCCCCCCCCCACCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC | CA2642979873 | PLEKHG5 | c.303-76_303-75insGGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGG (n.303-76_303-75insGGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGG) c.477-76_477-75insGGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGG (n.477-76_477-75insGGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGG) c.414-76_414-75insGGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGG (n.414-76_414-75insGGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGG) n.703_704insGGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGG c.510-76_510-75insGGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGG (n.510-76_510-75insGGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGG) c.600-76_600-75insGGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGG (n.600-76_600-75insGGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGG) c.*515-76_*515-75insGGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGG (n.*515-76_*515-75insGGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGG) c.*131-76_*131-75insGGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGG (n.*131-76_*131-75insGGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGG) c.264+34_264+35insGGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGG (n.264+34_264+35insGGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGG) c.534-76_534-75insGGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGG (n.534-76_534-75insGGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGG) c.471-76_471-75insGGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGG (n.471-76_471-75insGGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGG) c.540-76_540-75insGGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGG (n.540-76_540-75insGGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGG) | gnomAD v4 |
1 | g.6474667_6474668insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCACCCCCCACCCCCCCACCCCCC | CA2642979713 | PLEKHG5 | c.303-76_303-75insGTGGGGGGGTGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.303-76_303-75insGTGGGGGGGTGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.477-76_477-75insGTGGGGGGGTGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.477-76_477-75insGTGGGGGGGTGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.414-76_414-75insGTGGGGGGGTGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.414-76_414-75insGTGGGGGGGTGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.703_704insGTGGGGGGGTGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.510-76_510-75insGTGGGGGGGTGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.510-76_510-75insGTGGGGGGGTGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.600-76_600-75insGTGGGGGGGTGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.600-76_600-75insGTGGGGGGGTGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*515-76_*515-75insGTGGGGGGGTGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*515-76_*515-75insGTGGGGGGGTGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*131-76_*131-75insGTGGGGGGGTGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*131-76_*131-75insGTGGGGGGGTGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.264+34_264+35insGTGGGGGGGTGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.264+34_264+35insGTGGGGGGGTGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.534-76_534-75insGTGGGGGGGTGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.534-76_534-75insGTGGGGGGGTGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.471-76_471-75insGTGGGGGGGTGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.471-76_471-75insGTGGGGGGGTGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.540-76_540-75insGTGGGGGGGTGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.540-76_540-75insGTGGGGGGGTGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
1 | g.6474667dup | CA998179254 | PLEKHG5 | c.303-76dup (n.303-76dup) c.477-76dup (n.477-76dup) c.414-76dup (n.414-76dup) n.703dup c.510-76dup (n.510-76dup) c.600-76dup (n.600-76dup) c.*515-76dup (n.*515-76dup) c.*131-76dup (n.*131-76dup) c.264+34dup (n.264+34dup) c.534-76dup (n.534-76dup) c.471-76dup (n.471-76dup) c.540-76dup (n.540-76dup) | gnomAD v3 gnomAD v4 |
1 | g.6474666_6474667dup | CA998179242 | PLEKHG5 | c.303-77_303-76dup (n.303-77_303-76dup) c.477-77_477-76dup (n.477-77_477-76dup) c.414-77_414-76dup (n.414-77_414-76dup) n.702_703dup c.510-77_510-76dup (n.510-77_510-76dup) c.600-77_600-76dup (n.600-77_600-76dup) c.*515-77_*515-76dup (n.*515-77_*515-76dup) c.*131-77_*131-76dup (n.*131-77_*131-76dup) c.264+33_264+34dup (n.264+33_264+34dup) c.534-77_534-76dup (n.534-77_534-76dup) c.471-77_471-76dup (n.471-77_471-76dup) c.540-77_540-76dup (n.540-77_540-76dup) | gnomAD v3 gnomAD v4 |
1 | g.6474665_6474667dup | CA998179232 | PLEKHG5 | c.303-78_303-76dup (n.303-78_303-76dup) c.477-78_477-76dup (n.477-78_477-76dup) c.414-78_414-76dup (n.414-78_414-76dup) n.701_703dup c.510-78_510-76dup (n.510-78_510-76dup) c.600-78_600-76dup (n.600-78_600-76dup) c.*515-78_*515-76dup (n.*515-78_*515-76dup) c.*131-78_*131-76dup (n.*131-78_*131-76dup) c.264+32_264+34dup (n.264+32_264+34dup) c.534-78_534-76dup (n.534-78_534-76dup) c.471-78_471-76dup (n.471-78_471-76dup) c.540-78_540-76dup (n.540-78_540-76dup) | gnomAD v3 gnomAD v4 |
1 | g.6474664_6474667dup | CA2642979821 | PLEKHG5 | c.303-79_303-76dup (n.303-79_303-76dup) c.477-79_477-76dup (n.477-79_477-76dup) c.414-79_414-76dup (n.414-79_414-76dup) n.700_703dup c.510-79_510-76dup (n.510-79_510-76dup) c.600-79_600-76dup (n.600-79_600-76dup) c.*515-79_*515-76dup (n.*515-79_*515-76dup) c.*131-79_*131-76dup (n.*131-79_*131-76dup) c.264+31_264+34dup (n.264+31_264+34dup) c.534-79_534-76dup (n.534-79_534-76dup) c.471-79_471-76dup (n.471-79_471-76dup) c.540-79_540-76dup (n.540-79_540-76dup) | gnomAD v4 |
1 | g.6474663_6474667dup | CA2592134468 | PLEKHG5 | c.303-80_303-76dup (n.303-80_303-76dup) c.477-80_477-76dup (n.477-80_477-76dup) c.414-80_414-76dup (n.414-80_414-76dup) n.699_703dup c.510-80_510-76dup (n.510-80_510-76dup) c.600-80_600-76dup (n.600-80_600-76dup) c.*515-80_*515-76dup (n.*515-80_*515-76dup) c.*131-80_*131-76dup (n.*131-80_*131-76dup) c.264+30_264+34dup (n.264+30_264+34dup) c.534-80_534-76dup (n.534-80_534-76dup) c.471-80_471-76dup (n.471-80_471-76dup) c.540-80_540-76dup (n.540-80_540-76dup) | gnomAD v3 gnomAD v4 |
1 | g.6474667del | CA2642979781 | PLEKHG5 | c.303-76del (n.303-76del) c.477-76del (n.477-76del) c.414-76del (n.414-76del) n.703del c.510-76del (n.510-76del) c.600-76del (n.600-76del) c.*515-76del (n.*515-76del) c.*131-76del (n.*131-76del) c.264+34del (n.264+34del) c.534-76del (n.534-76del) c.471-76del (n.471-76del) c.540-76del (n.540-76del) | gnomAD v4 |
1 | g.6474666_6474667del | CA2574193725 | PLEKHG5 | c.303-77_303-76del (n.303-77_303-76del) c.477-77_477-76del (n.477-77_477-76del) c.414-77_414-76del (n.414-77_414-76del) n.702_703del c.510-77_510-76del (n.510-77_510-76del) c.600-77_600-76del (n.600-77_600-76del) c.*515-77_*515-76del (n.*515-77_*515-76del) c.*131-77_*131-76del (n.*131-77_*131-76del) c.264+33_264+34del (n.264+33_264+34del) c.534-77_534-76del (n.534-77_534-76del) c.471-77_471-76del (n.471-77_471-76del) c.540-77_540-76del (n.540-77_540-76del) | |
1 | g.6474664C= | CA1151507314 | PLEKHG5 | c.303-77G= (n.303-77G=) c.477-77G= (n.477-77G=) c.414-77G= (n.414-77G=) n.702G= c.510-77G= (n.510-77G=) c.600-77G= (n.600-77G=) c.*515-77G= (n.*515-77G=) c.*131-77G= (n.*131-77G=) c.264+33G= (n.264+33G=) c.534-77G= (n.534-77G=) c.471-77G= (n.471-77G=) c.540-77G= (n.540-77G=) | |
1 | g.6474664C>G | CA2695293759 | PLEKHG5 | c.303-77G>C (n.303-77G>C) c.477-77G>C (n.477-77G>C) c.414-77G>C (n.414-77G>C) n.702G>C c.510-77G>C (n.510-77G>C) c.600-77G>C (n.600-77G>C) c.*515-77G>C (n.*515-77G>C) c.*131-77G>C (n.*131-77G>C) c.264+33G>C (n.264+33G>C) c.534-77G>C (n.534-77G>C) c.471-77G>C (n.471-77G>C) c.540-77G>C (n.540-77G>C) | dbSNP |
1 | g.6474664C>T | CA1151507317 | PLEKHG5 | c.303-77G>A (n.303-77G>A) c.477-77G>A (n.477-77G>A) c.414-77G>A (n.414-77G>A) n.702G>A c.510-77G>A (n.510-77G>A) c.600-77G>A (n.600-77G>A) c.*515-77G>A (n.*515-77G>A) c.*131-77G>A (n.*131-77G>A) c.264+33G>A (n.264+33G>A) c.534-77G>A (n.534-77G>A) c.471-77G>A (n.471-77G>A) c.540-77G>A (n.540-77G>A) | dbSNP gnomAD v4 |
1 | g.6474667_6474668insCCCCCCCCCCCCCCCCCCCCCACCCC | CA2642979943 | PLEKHG5 | c.303-77_303-76insTGGGGGGGGGGGGGGGGGGGGGGGGG (n.303-77_303-76insTGGGGGGGGGGGGGGGGGGGGGGGGG) c.477-77_477-76insTGGGGGGGGGGGGGGGGGGGGGGGGG (n.477-77_477-76insTGGGGGGGGGGGGGGGGGGGGGGGGG) c.414-77_414-76insTGGGGGGGGGGGGGGGGGGGGGGGGG (n.414-77_414-76insTGGGGGGGGGGGGGGGGGGGGGGGGG) n.702_703insTGGGGGGGGGGGGGGGGGGGGGGGGG c.510-77_510-76insTGGGGGGGGGGGGGGGGGGGGGGGGG (n.510-77_510-76insTGGGGGGGGGGGGGGGGGGGGGGGGG) c.600-77_600-76insTGGGGGGGGGGGGGGGGGGGGGGGGG (n.600-77_600-76insTGGGGGGGGGGGGGGGGGGGGGGGGG) c.*515-77_*515-76insTGGGGGGGGGGGGGGGGGGGGGGGGG (n.*515-77_*515-76insTGGGGGGGGGGGGGGGGGGGGGGGGG) c.*131-77_*131-76insTGGGGGGGGGGGGGGGGGGGGGGGGG (n.*131-77_*131-76insTGGGGGGGGGGGGGGGGGGGGGGGGG) c.264+33_264+34insTGGGGGGGGGGGGGGGGGGGGGGGGG (n.264+33_264+34insTGGGGGGGGGGGGGGGGGGGGGGGGG) c.534-77_534-76insTGGGGGGGGGGGGGGGGGGGGGGGGG (n.534-77_534-76insTGGGGGGGGGGGGGGGGGGGGGGGGG) c.471-77_471-76insTGGGGGGGGGGGGGGGGGGGGGGGGG (n.471-77_471-76insTGGGGGGGGGGGGGGGGGGGGGGGGG) c.540-77_540-76insTGGGGGGGGGGGGGGGGGGGGGGGGG (n.540-77_540-76insTGGGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
1 | g.6474665C= | CA1151507319 | PLEKHG5 | c.303-78G= (n.303-78G=) c.477-78G= (n.477-78G=) c.414-78G= (n.414-78G=) n.701G= c.510-78G= (n.510-78G=) c.600-78G= (n.600-78G=) c.*515-78G= (n.*515-78G=) c.*131-78G= (n.*131-78G=) c.264+32G= (n.264+32G=) c.534-78G= (n.534-78G=) c.471-78G= (n.471-78G=) c.540-78G= (n.540-78G=) | |
1 | g.6474665C>T | CA1151507320 | PLEKHG5 | c.303-78G>A (n.303-78G>A) c.477-78G>A (n.477-78G>A) c.414-78G>A (n.414-78G>A) n.701G>A c.510-78G>A (n.510-78G>A) c.600-78G>A (n.600-78G>A) c.*515-78G>A (n.*515-78G>A) c.*131-78G>A (n.*131-78G>A) c.264+32G>A (n.264+32G>A) c.534-78G>A (n.534-78G>A) c.471-78G>A (n.471-78G>A) c.540-78G>A (n.540-78G>A) | dbSNP |
1 | g.6474667_6474668insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCACCC | CA2642979944 | PLEKHG5 | c.303-78_303-77insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.303-78_303-77insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.477-78_477-77insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.477-78_477-77insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.414-78_414-77insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.414-78_414-77insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.701_702insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.510-78_510-77insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.510-78_510-77insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.600-78_600-77insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.600-78_600-77insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*515-78_*515-77insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*515-78_*515-77insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*131-78_*131-77insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*131-78_*131-77insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.264+32_264+33insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.264+32_264+33insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.534-78_534-77insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.534-78_534-77insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.471-78_471-77insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.471-78_471-77insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.540-78_540-77insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.540-78_540-77insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
1 | g.6474668_6474676del | CA2642979945 | PLEKHG5 | c.303-86_303-78del (n.303-86_303-78del) c.477-86_477-78del (n.477-86_477-78del) c.414-86_414-78del (n.414-86_414-78del) n.693_701del c.510-86_510-78del (n.510-86_510-78del) c.600-86_600-78del (n.600-86_600-78del) c.*515-86_*515-78del (n.*515-86_*515-78del) c.*131-86_*131-78del (n.*131-86_*131-78del) c.264+24_264+32del (n.264+24_264+32del) c.534-86_534-78del (n.534-86_534-78del) c.471-86_471-78del (n.471-86_471-78del) c.540-86_540-78del (n.540-86_540-78del) | gnomAD v4 |
1 | g.6474666C>T | CA2574193726 | PLEKHG5 | c.303-79G>A (n.303-79G>A) c.477-79G>A (n.477-79G>A) c.414-79G>A (n.414-79G>A) n.700G>A c.510-79G>A (n.510-79G>A) c.600-79G>A (n.600-79G>A) c.*515-79G>A (n.*515-79G>A) c.*131-79G>A (n.*131-79G>A) c.264+31G>A (n.264+31G>A) c.534-79G>A (n.534-79G>A) c.471-79G>A (n.471-79G>A) c.540-79G>A (n.540-79G>A) | gnomAD v4 |
1 | g.6474667_6474678del | CA2592134469 | PLEKHG5 | c.303-90_303-79del (n.303-90_303-79del) c.477-90_477-79del (n.477-90_477-79del) c.414-90_414-79del (n.414-90_414-79del) n.689_700del c.510-90_510-79del (n.510-90_510-79del) c.600-90_600-79del (n.600-90_600-79del) c.*515-90_*515-79del (n.*515-90_*515-79del) c.*131-90_*131-79del (n.*131-90_*131-79del) c.264+20_264+31del (n.264+20_264+31del) c.534-90_534-79del (n.534-90_534-79del) c.471-90_471-79del (n.471-90_471-79del) c.540-90_540-79del (n.540-90_540-79del) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.6474667C>A | CA998179284 | PLEKHG5 | c.303-80G>T (n.303-80G>T) c.477-80G>T (n.477-80G>T) c.414-80G>T (n.414-80G>T) n.699G>T c.510-80G>T (n.510-80G>T) c.600-80G>T (n.600-80G>T) c.*515-80G>T (n.*515-80G>T) c.*131-80G>T (n.*131-80G>T) c.264+30G>T (n.264+30G>T) c.534-80G>T (n.534-80G>T) c.471-80G>T (n.471-80G>T) c.540-80G>T (n.540-80G>T) | gnomAD v3 gnomAD v4 |
1 | g.6474667C= | CA1148037793 | PLEKHG5 | c.303-80G= (n.303-80G=) c.477-80G= (n.477-80G=) c.414-80G= (n.414-80G=) n.699G= c.510-80G= (n.510-80G=) c.600-80G= (n.600-80G=) c.*515-80G= (n.*515-80G=) c.*131-80G= (n.*131-80G=) c.264+30G= (n.264+30G=) c.534-80G= (n.534-80G=) c.471-80G= (n.471-80G=) c.540-80G= (n.540-80G=) | |
1 | g.6474667C>G | CA1151507322 | PLEKHG5 | c.303-80G>C (n.303-80G>C) c.477-80G>C (n.477-80G>C) c.414-80G>C (n.414-80G>C) n.699G>C c.510-80G>C (n.510-80G>C) c.600-80G>C (n.600-80G>C) c.*515-80G>C (n.*515-80G>C) c.*131-80G>C (n.*131-80G>C) c.264+30G>C (n.264+30G>C) c.534-80G>C (n.534-80G>C) c.471-80G>C (n.471-80G>C) c.540-80G>C (n.540-80G>C) | dbSNP gnomAD v4 |
1 | g.6474667C>T | CA17243978 | PLEKHG5 | c.303-80G>A (n.303-80G>A) c.477-80G>A (n.477-80G>A) c.414-80G>A (n.414-80G>A) n.699G>A c.510-80G>A (n.510-80G>A) c.600-80G>A (n.600-80G>A) c.*515-80G>A (n.*515-80G>A) c.*131-80G>A (n.*131-80G>A) c.264+30G>A (n.264+30G>A) c.534-80G>A (n.534-80G>A) c.471-80G>A (n.471-80G>A) c.540-80G>A (n.540-80G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474667_6474668delinsCG | CA1151507323 | PLEKHG5 | c.303-81_303-80delinsCG (n.303-81_303-80delinsCG) c.477-81_477-80delinsCG (n.477-81_477-80delinsCG) c.414-81_414-80delinsCG (n.414-81_414-80delinsCG) n.698_699delinsCG c.510-81_510-80delinsCG (n.510-81_510-80delinsCG) c.600-81_600-80delinsCG (n.600-81_600-80delinsCG) c.*515-81_*515-80delinsCG (n.*515-81_*515-80delinsCG) c.*131-81_*131-80delinsCG (n.*131-81_*131-80delinsCG) c.264+29_264+30delinsCG (n.264+29_264+30delinsCG) c.534-81_534-80delinsCG (n.534-81_534-80delinsCG) c.471-81_471-80delinsCG (n.471-81_471-80delinsCG) c.540-81_540-80delinsCG (n.540-81_540-80delinsCG) | |
1 | g.6474668_6474669del | CA2642979956 | PLEKHG5 | c.303-81_303-80del (n.303-81_303-80del) c.477-81_477-80del (n.477-81_477-80del) c.414-81_414-80del (n.414-81_414-80del) n.698_699del c.510-81_510-80del (n.510-81_510-80del) c.600-81_600-80del (n.600-81_600-80del) c.*515-81_*515-80del (n.*515-81_*515-80del) c.*131-81_*131-80del (n.*131-81_*131-80del) c.264+29_264+30del (n.264+29_264+30del) c.534-81_534-80del (n.534-81_534-80del) c.471-81_471-80del (n.471-81_471-80del) c.540-81_540-80del (n.540-81_540-80del) | gnomAD v4 |
1 | g.6474668_6474678del | CA2642979958 | PLEKHG5 | c.303-90_303-80del (n.303-90_303-80del) c.477-90_477-80del (n.477-90_477-80del) c.414-90_414-80del (n.414-90_414-80del) n.689_699del c.510-90_510-80del (n.510-90_510-80del) c.600-90_600-80del (n.600-90_600-80del) c.*515-90_*515-80del (n.*515-90_*515-80del) c.*131-90_*131-80del (n.*131-90_*131-80del) c.264+20_264+30del (n.264+20_264+30del) c.534-90_534-80del (n.534-90_534-80del) c.471-90_471-80del (n.471-90_471-80del) c.540-90_540-80del (n.540-90_540-80del) | gnomAD v4 |
1 | g.6474667_6474668insAA | CA2642979974 | PLEKHG5 | c.303-81_303-80insTT (n.303-81_303-80insTT) c.477-81_477-80insTT (n.477-81_477-80insTT) c.414-81_414-80insTT (n.414-81_414-80insTT) n.698_699insTT c.510-81_510-80insTT (n.510-81_510-80insTT) c.600-81_600-80insTT (n.600-81_600-80insTT) c.*515-81_*515-80insTT (n.*515-81_*515-80insTT) c.*131-81_*131-80insTT (n.*131-81_*131-80insTT) c.264+29_264+30insTT (n.264+29_264+30insTT) c.534-81_534-80insTT (n.534-81_534-80insTT) c.471-81_471-80insTT (n.471-81_471-80insTT) c.540-81_540-80insTT (n.540-81_540-80insTT) | gnomAD v4 |
1 | g.6474667_6474668insAG | CA2642979979 | PLEKHG5 | c.303-81_303-80insCT (n.303-81_303-80insCT) c.477-81_477-80insCT (n.477-81_477-80insCT) c.414-81_414-80insCT (n.414-81_414-80insCT) n.698_699insCT c.510-81_510-80insCT (n.510-81_510-80insCT) c.600-81_600-80insCT (n.600-81_600-80insCT) c.*515-81_*515-80insCT (n.*515-81_*515-80insCT) c.*131-81_*131-80insCT (n.*131-81_*131-80insCT) c.264+29_264+30insCT (n.264+29_264+30insCT) c.534-81_534-80insCT (n.534-81_534-80insCT) c.471-81_471-80insCT (n.471-81_471-80insCT) c.540-81_540-80insCT (n.540-81_540-80insCT) | gnomAD v4 |
1 | g.6474667_6474668insCCCCCACCCCCCCCCCCCCCCCCCCCCCCCCA | CA2642979982 | PLEKHG5 | c.303-81_303-80insTGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGG (n.303-81_303-80insTGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGG) c.477-81_477-80insTGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGG (n.477-81_477-80insTGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGG) c.414-81_414-80insTGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGG (n.414-81_414-80insTGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGG) n.698_699insTGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGG c.510-81_510-80insTGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGG (n.510-81_510-80insTGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGG) c.600-81_600-80insTGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGG (n.600-81_600-80insTGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGG) c.*515-81_*515-80insTGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGG (n.*515-81_*515-80insTGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGG) c.*131-81_*131-80insTGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGG (n.*131-81_*131-80insTGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGG) c.264+29_264+30insTGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGG (n.264+29_264+30insTGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGG) c.534-81_534-80insTGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGG (n.534-81_534-80insTGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGG) c.471-81_471-80insTGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGG (n.471-81_471-80insTGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGG) c.540-81_540-80insTGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGG (n.540-81_540-80insTGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGG) | gnomAD v4 |
1 | g.6474667_6474668insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCA | CA2695502744 | PLEKHG5 | c.303-81_303-80insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.303-81_303-80insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.477-81_477-80insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.477-81_477-80insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.414-81_414-80insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.414-81_414-80insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.698_699insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.510-81_510-80insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.510-81_510-80insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.600-81_600-80insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.600-81_600-80insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*515-81_*515-80insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*515-81_*515-80insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*131-81_*131-80insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*131-81_*131-80insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.264+29_264+30insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.264+29_264+30insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.534-81_534-80insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.534-81_534-80insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.471-81_471-80insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.471-81_471-80insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.540-81_540-80insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.540-81_540-80insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) | dbSNP |
1 | g.6474667_6474668insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCAA | CA2742323571 | PLEKHG5 | c.303-81_303-80insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.303-81_303-80insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.477-81_477-80insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.477-81_477-80insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.414-81_414-80insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.414-81_414-80insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.698_699insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.510-81_510-80insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.510-81_510-80insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.600-81_600-80insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.600-81_600-80insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*515-81_*515-80insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*515-81_*515-80insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*131-81_*131-80insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*131-81_*131-80insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.264+29_264+30insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.264+29_264+30insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.534-81_534-80insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.534-81_534-80insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.471-81_471-80insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.471-81_471-80insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.540-81_540-80insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.540-81_540-80insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) | |
1 | g.6474668del | CA520766036 | PLEKHG5 | c.303-81del (n.303-81del) c.477-81del (n.477-81del) c.414-81del (n.414-81del) n.698del c.510-81del (n.510-81del) c.600-81del (n.600-81del) c.*515-81del (n.*515-81del) c.*131-81del (n.*131-81del) c.264+29del (n.264+29del) c.534-81del (n.534-81del) c.471-81del (n.471-81del) c.540-81del (n.540-81del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474668G>A | CA520766037 | PLEKHG5 | c.303-81C>T (n.303-81C>T) c.477-81C>T (n.477-81C>T) c.414-81C>T (n.414-81C>T) n.698C>T c.510-81C>T (n.510-81C>T) c.600-81C>T (n.600-81C>T) c.*515-81C>T (n.*515-81C>T) c.*131-81C>T (n.*131-81C>T) c.264+29C>T (n.264+29C>T) c.534-81C>T (n.534-81C>T) c.471-81C>T (n.471-81C>T) c.540-81C>T (n.540-81C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474668G>C | CA17243979 | PLEKHG5 | c.303-81C>G (n.303-81C>G) c.477-81C>G (n.477-81C>G) c.414-81C>G (n.414-81C>G) n.698C>G c.510-81C>G (n.510-81C>G) c.600-81C>G (n.600-81C>G) c.*515-81C>G (n.*515-81C>G) c.*131-81C>G (n.*131-81C>G) c.264+29C>G (n.264+29C>G) c.534-81C>G (n.534-81C>G) c.471-81C>G (n.471-81C>G) c.540-81C>G (n.540-81C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474668G= | CA1149035680 | PLEKHG5 | c.303-81C= (n.303-81C=) c.477-81C= (n.477-81C=) c.414-81C= (n.414-81C=) n.698C= c.510-81C= (n.510-81C=) c.600-81C= (n.600-81C=) c.*515-81C= (n.*515-81C=) c.*131-81C= (n.*131-81C=) c.264+29C= (n.264+29C=) c.534-81C= (n.534-81C=) c.471-81C= (n.471-81C=) c.540-81C= (n.540-81C=) | |
1 | g.6474668G>T | CA17243980 | PLEKHG5 | c.303-81C>A (n.303-81C>A) c.477-81C>A (n.477-81C>A) c.414-81C>A (n.414-81C>A) n.698C>A c.510-81C>A (n.510-81C>A) c.600-81C>A (n.600-81C>A) c.*515-81C>A (n.*515-81C>A) c.*131-81C>A (n.*131-81C>A) c.264+29C>A (n.264+29C>A) c.534-81C>A (n.534-81C>A) c.471-81C>A (n.471-81C>A) c.540-81C>A (n.540-81C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474669C>A | CA2642979997 | PLEKHG5 | c.303-82G>T (n.303-82G>T) c.477-82G>T (n.477-82G>T) c.414-82G>T (n.414-82G>T) n.697G>T c.510-82G>T (n.510-82G>T) c.600-82G>T (n.600-82G>T) c.*515-82G>T (n.*515-82G>T) c.*131-82G>T (n.*131-82G>T) c.264+28G>T (n.264+28G>T) c.534-82G>T (n.534-82G>T) c.471-82G>T (n.471-82G>T) c.540-82G>T (n.540-82G>T) | gnomAD v4 |
1 | g.6474672_6474673insCCCCCCCCCCCCCCC | CA2742323572 | PLEKHG5 | c.303-82_303-81insGGGGGGGGGGGGGGG (n.303-82_303-81insGGGGGGGGGGGGGGG) c.477-82_477-81insGGGGGGGGGGGGGGG (n.477-82_477-81insGGGGGGGGGGGGGGG) c.414-82_414-81insGGGGGGGGGGGGGGG (n.414-82_414-81insGGGGGGGGGGGGGGG) n.697_698insGGGGGGGGGGGGGGG c.510-82_510-81insGGGGGGGGGGGGGGG (n.510-82_510-81insGGGGGGGGGGGGGGG) c.600-82_600-81insGGGGGGGGGGGGGGG (n.600-82_600-81insGGGGGGGGGGGGGGG) c.*515-82_*515-81insGGGGGGGGGGGGGGG (n.*515-82_*515-81insGGGGGGGGGGGGGGG) c.*131-82_*131-81insGGGGGGGGGGGGGGG (n.*131-82_*131-81insGGGGGGGGGGGGGGG) c.264+28_264+29insGGGGGGGGGGGGGGG (n.264+28_264+29insGGGGGGGGGGGGGGG) c.534-82_534-81insGGGGGGGGGGGGGGG (n.534-82_534-81insGGGGGGGGGGGGGGG) c.471-82_471-81insGGGGGGGGGGGGGGG (n.471-82_471-81insGGGGGGGGGGGGGGG) c.540-82_540-81insGGGGGGGGGGGGGGG (n.540-82_540-81insGGGGGGGGGGGGGGG) | |
1 | g.6474672_6474673insCCCCGCCCCCCCCCCCCACCCCC | CA2742323573 | PLEKHG5 | c.303-82_303-81insGTGGGGGGGGGGGGCGGGGGGGG (n.303-82_303-81insGTGGGGGGGGGGGGCGGGGGGGG) c.477-82_477-81insGTGGGGGGGGGGGGCGGGGGGGG (n.477-82_477-81insGTGGGGGGGGGGGGCGGGGGGGG) c.414-82_414-81insGTGGGGGGGGGGGGCGGGGGGGG (n.414-82_414-81insGTGGGGGGGGGGGGCGGGGGGGG) n.697_698insGTGGGGGGGGGGGGCGGGGGGGG c.510-82_510-81insGTGGGGGGGGGGGGCGGGGGGGG (n.510-82_510-81insGTGGGGGGGGGGGGCGGGGGGGG) c.600-82_600-81insGTGGGGGGGGGGGGCGGGGGGGG (n.600-82_600-81insGTGGGGGGGGGGGGCGGGGGGGG) c.*515-82_*515-81insGTGGGGGGGGGGGGCGGGGGGGG (n.*515-82_*515-81insGTGGGGGGGGGGGGCGGGGGGGG) c.*131-82_*131-81insGTGGGGGGGGGGGGCGGGGGGGG (n.*131-82_*131-81insGTGGGGGGGGGGGGCGGGGGGGG) c.264+28_264+29insGTGGGGGGGGGGGGCGGGGGGGG (n.264+28_264+29insGTGGGGGGGGGGGGCGGGGGGGG) c.534-82_534-81insGTGGGGGGGGGGGGCGGGGGGGG (n.534-82_534-81insGTGGGGGGGGGGGGCGGGGGGGG) c.471-82_471-81insGTGGGGGGGGGGGGCGGGGGGGG (n.471-82_471-81insGTGGGGGGGGGGGGCGGGGGGGG) c.540-82_540-81insGTGGGGGGGGGGGGCGGGGGGGG (n.540-82_540-81insGTGGGGGGGGGGGGCGGGGGGGG) | |
1 | g.6474672dup | CA2642980003 | PLEKHG5 | c.303-82dup (n.303-82dup) c.477-82dup (n.477-82dup) c.414-82dup (n.414-82dup) n.697dup c.510-82dup (n.510-82dup) c.600-82dup (n.600-82dup) c.*515-82dup (n.*515-82dup) c.*131-82dup (n.*131-82dup) c.264+28dup (n.264+28dup) c.534-82dup (n.534-82dup) c.471-82dup (n.471-82dup) c.540-82dup (n.540-82dup) | gnomAD v4 |
1 | g.6474672del | CA2642980006 | PLEKHG5 | c.303-82del (n.303-82del) c.477-82del (n.477-82del) c.414-82del (n.414-82del) n.697del c.510-82del (n.510-82del) c.600-82del (n.600-82del) c.*515-82del (n.*515-82del) c.*131-82del (n.*131-82del) c.264+28del (n.264+28del) c.534-82del (n.534-82del) c.471-82del (n.471-82del) c.540-82del (n.540-82del) | gnomAD v4 |
1 | g.6474670_6474672del | CA2695502749 | PLEKHG5 | c.303-84_303-82del (n.303-84_303-82del) c.477-84_477-82del (n.477-84_477-82del) c.414-84_414-82del (n.414-84_414-82del) n.695_697del c.510-84_510-82del (n.510-84_510-82del) c.600-84_600-82del (n.600-84_600-82del) c.*515-84_*515-82del (n.*515-84_*515-82del) c.*131-84_*131-82del (n.*131-84_*131-82del) c.264+26_264+28del (n.264+26_264+28del) c.534-84_534-82del (n.534-84_534-82del) c.471-84_471-82del (n.471-84_471-82del) c.540-84_540-82del (n.540-84_540-82del) | dbSNP |
1 | g.6474670C>A | CA2574193729 | PLEKHG5 | c.303-83G>T (n.303-83G>T) c.477-83G>T (n.477-83G>T) c.414-83G>T (n.414-83G>T) n.696G>T c.510-83G>T (n.510-83G>T) c.600-83G>T (n.600-83G>T) c.*515-83G>T (n.*515-83G>T) c.*131-83G>T (n.*131-83G>T) c.264+27G>T (n.264+27G>T) c.534-83G>T (n.534-83G>T) c.471-83G>T (n.471-83G>T) c.540-83G>T (n.540-83G>T) | gnomAD v4 |
1 | g.6474670C= | CA1151507340 | PLEKHG5 | c.303-83G= (n.303-83G=) c.477-83G= (n.477-83G=) c.414-83G= (n.414-83G=) n.696G= c.510-83G= (n.510-83G=) c.600-83G= (n.600-83G=) c.*515-83G= (n.*515-83G=) c.*131-83G= (n.*131-83G=) c.264+27G= (n.264+27G=) c.534-83G= (n.534-83G=) c.471-83G= (n.471-83G=) c.540-83G= (n.540-83G=) | |
1 | g.6474670C>G | CA2642980021 | PLEKHG5 | c.303-83G>C (n.303-83G>C) c.477-83G>C (n.477-83G>C) c.414-83G>C (n.414-83G>C) n.696G>C c.510-83G>C (n.510-83G>C) c.600-83G>C (n.600-83G>C) c.*515-83G>C (n.*515-83G>C) c.*131-83G>C (n.*131-83G>C) c.264+27G>C (n.264+27G>C) c.534-83G>C (n.534-83G>C) c.471-83G>C (n.471-83G>C) c.540-83G>C (n.540-83G>C) | gnomAD v4 |
1 | g.6474670C>T | CA737854982 | PLEKHG5 | c.303-83G>A (n.303-83G>A) c.477-83G>A (n.477-83G>A) c.414-83G>A (n.414-83G>A) n.696G>A c.510-83G>A (n.510-83G>A) c.600-83G>A (n.600-83G>A) c.*515-83G>A (n.*515-83G>A) c.*131-83G>A (n.*131-83G>A) c.264+27G>A (n.264+27G>A) c.534-83G>A (n.534-83G>A) c.471-83G>A (n.471-83G>A) c.540-83G>A (n.540-83G>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.6474672_6474673insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCAAACCC | CA2742323574 | PLEKHG5 | c.303-83_303-82insTTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.303-83_303-82insTTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.477-83_477-82insTTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.477-83_477-82insTTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.414-83_414-82insTTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.414-83_414-82insTTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.696_697insTTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.510-83_510-82insTTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.510-83_510-82insTTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.600-83_600-82insTTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.600-83_600-82insTTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*515-83_*515-82insTTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*515-83_*515-82insTTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*131-83_*131-82insTTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*131-83_*131-82insTTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.264+27_264+28insTTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.264+27_264+28insTTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.534-83_534-82insTTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.534-83_534-82insTTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.471-83_471-82insTTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.471-83_471-82insTTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.540-83_540-82insTTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.540-83_540-82insTTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) | |
1 | g.6474671C>A | CA2642980027 | PLEKHG5 | c.303-84G>T (n.303-84G>T) c.477-84G>T (n.477-84G>T) c.414-84G>T (n.414-84G>T) n.695G>T c.510-84G>T (n.510-84G>T) c.600-84G>T (n.600-84G>T) c.*515-84G>T (n.*515-84G>T) c.*131-84G>T (n.*131-84G>T) c.264+26G>T (n.264+26G>T) c.534-84G>T (n.534-84G>T) c.471-84G>T (n.471-84G>T) c.540-84G>T (n.540-84G>T) | gnomAD v4 |
1 | g.6474671C= | CA1151507359 | PLEKHG5 | c.303-84G= (n.303-84G=) c.477-84G= (n.477-84G=) c.414-84G= (n.414-84G=) n.695G= c.510-84G= (n.510-84G=) c.600-84G= (n.600-84G=) c.*515-84G= (n.*515-84G=) c.*131-84G= (n.*131-84G=) c.264+26G= (n.264+26G=) c.534-84G= (n.534-84G=) c.471-84G= (n.471-84G=) c.540-84G= (n.540-84G=) | |
1 | g.6474671C>G | CA1151507362 | PLEKHG5 | c.303-84G>C (n.303-84G>C) c.477-84G>C (n.477-84G>C) c.414-84G>C (n.414-84G>C) n.695G>C c.510-84G>C (n.510-84G>C) c.600-84G>C (n.600-84G>C) c.*515-84G>C (n.*515-84G>C) c.*131-84G>C (n.*131-84G>C) c.264+26G>C (n.264+26G>C) c.534-84G>C (n.534-84G>C) c.471-84G>C (n.471-84G>C) c.540-84G>C (n.540-84G>C) | dbSNP gnomAD v4 |
1 | g.6474671C>T | CA2642980033 | PLEKHG5 | c.303-84G>A (n.303-84G>A) c.477-84G>A (n.477-84G>A) c.414-84G>A (n.414-84G>A) n.695G>A c.510-84G>A (n.510-84G>A) c.600-84G>A (n.600-84G>A) c.*515-84G>A (n.*515-84G>A) c.*131-84G>A (n.*131-84G>A) c.264+26G>A (n.264+26G>A) c.534-84G>A (n.534-84G>A) c.471-84G>A (n.471-84G>A) c.540-84G>A (n.540-84G>A) | gnomAD v4 |
1 | g.6474672C>A | CA1151507368 | PLEKHG5 | c.303-85G>T (n.303-85G>T) c.477-85G>T (n.477-85G>T) c.414-85G>T (n.414-85G>T) n.694G>T c.510-85G>T (n.510-85G>T) c.600-85G>T (n.600-85G>T) c.*515-85G>T (n.*515-85G>T) c.*131-85G>T (n.*131-85G>T) c.264+25G>T (n.264+25G>T) c.534-85G>T (n.534-85G>T) c.471-85G>T (n.471-85G>T) c.540-85G>T (n.540-85G>T) | dbSNP gnomAD v4 |
1 | g.6474672C= | CA1151507365 | PLEKHG5 | c.303-85G= (n.303-85G=) c.477-85G= (n.477-85G=) c.414-85G= (n.414-85G=) n.694G= c.510-85G= (n.510-85G=) c.600-85G= (n.600-85G=) c.*515-85G= (n.*515-85G=) c.*131-85G= (n.*131-85G=) c.264+25G= (n.264+25G=) c.534-85G= (n.534-85G=) c.471-85G= (n.471-85G=) c.540-85G= (n.540-85G=) | |
1 | g.6474672C>T | CA520766038 | PLEKHG5 | c.303-85G>A (n.303-85G>A) c.477-85G>A (n.477-85G>A) c.414-85G>A (n.414-85G>A) n.694G>A c.510-85G>A (n.510-85G>A) c.600-85G>A (n.600-85G>A) c.*515-85G>A (n.*515-85G>A) c.*131-85G>A (n.*131-85G>A) c.264+25G>A (n.264+25G>A) c.534-85G>A (n.534-85G>A) c.471-85G>A (n.471-85G>A) c.540-85G>A (n.540-85G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474672_6474673insCCT | CA2742323575 | PLEKHG5 | c.303-86_303-85insAGG (n.303-86_303-85insAGG) c.477-86_477-85insAGG (n.477-86_477-85insAGG) c.414-86_414-85insAGG (n.414-86_414-85insAGG) n.693_694insAGG c.510-86_510-85insAGG (n.510-86_510-85insAGG) c.600-86_600-85insAGG (n.600-86_600-85insAGG) c.*515-86_*515-85insAGG (n.*515-86_*515-85insAGG) c.*131-86_*131-85insAGG (n.*131-86_*131-85insAGG) c.264+24_264+25insAGG (n.264+24_264+25insAGG) c.534-86_534-85insAGG (n.534-86_534-85insAGG) c.471-86_471-85insAGG (n.471-86_471-85insAGG) c.540-86_540-85insAGG (n.540-86_540-85insAGG) | |
1 | g.6474672_6474673insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCA | CA2592134471 | PLEKHG5 | c.303-86_303-85insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.303-86_303-85insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.477-86_477-85insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.477-86_477-85insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.414-86_414-85insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.414-86_414-85insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) n.693_694insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGG c.510-86_510-85insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.510-86_510-85insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.600-86_600-85insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.600-86_600-85insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*515-86_*515-85insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*515-86_*515-85insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.*131-86_*131-85insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*131-86_*131-85insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.264+24_264+25insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.264+24_264+25insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.534-86_534-85insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.534-86_534-85insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.471-86_471-85insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.471-86_471-85insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.540-86_540-85insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.540-86_540-85insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
1 | g.6474673del | CA998179295 | PLEKHG5 | c.303-86del (n.303-86del) c.477-86del (n.477-86del) c.414-86del (n.414-86del) n.693del c.510-86del (n.510-86del) c.600-86del (n.600-86del) c.*515-86del (n.*515-86del) c.*131-86del (n.*131-86del) c.264+24del (n.264+24del) c.534-86del (n.534-86del) c.471-86del (n.471-86del) c.540-86del (n.540-86del) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.6474673A= | CA1151507371 | PLEKHG5 | c.303-86T= (n.303-86T=) c.477-86T= (n.477-86T=) c.414-86T= (n.414-86T=) n.693T= c.510-86T= (n.510-86T=) c.600-86T= (n.600-86T=) c.*515-86T= (n.*515-86T=) c.*131-86T= (n.*131-86T=) c.264+24T= (n.264+24T=) c.534-86T= (n.534-86T=) c.471-86T= (n.471-86T=) c.540-86T= (n.540-86T=) | |
1 | g.6474673A>C | CA520766039 | PLEKHG5 | c.303-86T>G (n.303-86T>G) c.477-86T>G (n.477-86T>G) c.414-86T>G (n.414-86T>G) n.693T>G c.510-86T>G (n.510-86T>G) c.600-86T>G (n.600-86T>G) c.*515-86T>G (n.*515-86T>G) c.*131-86T>G (n.*131-86T>G) c.264+24T>G (n.264+24T>G) c.534-86T>G (n.534-86T>G) c.471-86T>G (n.471-86T>G) c.540-86T>G (n.540-86T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474673_6474680del | CA998179297 | PLEKHG5 | c.303-93_303-86del (n.303-93_303-86del) c.477-93_477-86del (n.477-93_477-86del) c.414-93_414-86del (n.414-93_414-86del) n.686_693del c.510-93_510-86del (n.510-93_510-86del) c.600-93_600-86del (n.600-93_600-86del) c.*515-93_*515-86del (n.*515-93_*515-86del) c.*131-93_*131-86del (n.*131-93_*131-86del) c.264+17_264+24del (n.264+17_264+24del) c.534-93_534-86del (n.534-93_534-86del) c.471-93_471-86del (n.471-93_471-86del) c.540-93_540-86del (n.540-93_540-86del) | gnomAD v3 gnomAD v4 |
1 | g.6474673_6474689del | CA998179300 | PLEKHG5 | c.303-102_303-86del (n.303-102_303-86del) c.477-102_477-86del (n.477-102_477-86del) c.414-102_414-86del (n.414-102_414-86del) n.677_693del c.510-102_510-86del (n.510-102_510-86del) c.600-102_600-86del (n.600-102_600-86del) c.*515-102_*515-86del (n.*515-102_*515-86del) c.*131-102_*131-86del (n.*131-102_*131-86del) c.264+8_264+24del (n.264+8_264+24del) c.534-102_534-86del (n.534-102_534-86del) c.471-102_471-86del (n.471-102_471-86del) c.540-102_540-86del (n.540-102_540-86del) | gnomAD v3 gnomAD v4 |
1 | g.6474674C>T | CA2574193733 | PLEKHG5 | c.303-87G>A (n.303-87G>A) c.477-87G>A (n.477-87G>A) c.414-87G>A (n.414-87G>A) n.692G>A c.510-87G>A (n.510-87G>A) c.600-87G>A (n.600-87G>A) c.*515-87G>A (n.*515-87G>A) c.*131-87G>A (n.*131-87G>A) c.264+23G>A (n.264+23G>A) c.534-87G>A (n.534-87G>A) c.471-87G>A (n.471-87G>A) c.540-87G>A (n.540-87G>A) | gnomAD v4 |
1 | g.6474676del | CA2642980057 | PLEKHG5 | c.303-87del (n.303-87del) c.477-87del (n.477-87del) c.414-87del (n.414-87del) n.692del c.510-87del (n.510-87del) c.600-87del (n.600-87del) c.*515-87del (n.*515-87del) c.*131-87del (n.*131-87del) c.264+23del (n.264+23del) c.534-87del (n.534-87del) c.471-87del (n.471-87del) c.540-87del (n.540-87del) | gnomAD v4 |
1 | g.6474675C>A | CA2642980060 | PLEKHG5 | c.303-88G>T (n.303-88G>T) c.477-88G>T (n.477-88G>T) c.414-88G>T (n.414-88G>T) n.691G>T c.510-88G>T (n.510-88G>T) c.600-88G>T (n.600-88G>T) c.*515-88G>T (n.*515-88G>T) c.*131-88G>T (n.*131-88G>T) c.264+22G>T (n.264+22G>T) c.534-88G>T (n.534-88G>T) c.471-88G>T (n.471-88G>T) c.540-88G>T (n.540-88G>T) | gnomAD v4 |
1 | g.6474675C= | CA1151507373 | PLEKHG5 | c.303-88G= (n.303-88G=) c.477-88G= (n.477-88G=) c.414-88G= (n.414-88G=) n.691G= c.510-88G= (n.510-88G=) c.600-88G= (n.600-88G=) c.*515-88G= (n.*515-88G=) c.*131-88G= (n.*131-88G=) c.264+22G= (n.264+22G=) c.534-88G= (n.534-88G=) c.471-88G= (n.471-88G=) c.540-88G= (n.540-88G=) | |
1 | g.6474675C>T | CA998179303 | PLEKHG5 | c.303-88G>A (n.303-88G>A) c.477-88G>A (n.477-88G>A) c.414-88G>A (n.414-88G>A) n.691G>A c.510-88G>A (n.510-88G>A) c.600-88G>A (n.600-88G>A) c.*515-88G>A (n.*515-88G>A) c.*131-88G>A (n.*131-88G>A) c.264+22G>A (n.264+22G>A) c.534-88G>A (n.534-88G>A) c.471-88G>A (n.471-88G>A) c.540-88G>A (n.540-88G>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.6474676C>T | CA2642980069 | PLEKHG5 | c.303-89G>A (n.303-89G>A) c.477-89G>A (n.477-89G>A) c.414-89G>A (n.414-89G>A) n.690G>A c.510-89G>A (n.510-89G>A) c.600-89G>A (n.600-89G>A) c.*515-89G>A (n.*515-89G>A) c.*131-89G>A (n.*131-89G>A) c.264+21G>A (n.264+21G>A) c.534-89G>A (n.534-89G>A) c.471-89G>A (n.471-89G>A) c.540-89G>A (n.540-89G>A) | gnomAD v4 |
1 | g.6474676_6474680delinsCACAG | CA1151507384 | PLEKHG5 | c.303-93_303-89delinsCTGTG (n.303-93_303-89delinsCTGTG) c.477-93_477-89delinsCTGTG (n.477-93_477-89delinsCTGTG) c.414-93_414-89delinsCTGTG (n.414-93_414-89delinsCTGTG) n.686_690delinsCTGTG c.510-93_510-89delinsCTGTG (n.510-93_510-89delinsCTGTG) c.600-93_600-89delinsCTGTG (n.600-93_600-89delinsCTGTG) c.*515-93_*515-89delinsCTGTG (n.*515-93_*515-89delinsCTGTG) c.*131-93_*131-89delinsCTGTG (n.*131-93_*131-89delinsCTGTG) c.264+17_264+21delinsCTGTG (n.264+17_264+21delinsCTGTG) c.534-93_534-89delinsCTGTG (n.534-93_534-89delinsCTGTG) c.471-93_471-89delinsCTGTG (n.471-93_471-89delinsCTGTG) c.540-93_540-89delinsCTGTG (n.540-93_540-89delinsCTGTG) | |
1 | g.6474677del | CA998179308 | PLEKHG5 | c.303-90del (n.303-90del) c.477-90del (n.477-90del) c.414-90del (n.414-90del) n.689del c.510-90del (n.510-90del) c.600-90del (n.600-90del) c.*515-90del (n.*515-90del) c.*131-90del (n.*131-90del) c.264+20del (n.264+20del) c.534-90del (n.534-90del) c.471-90del (n.471-90del) c.540-90del (n.540-90del) | gnomAD v3 gnomAD v4 |
1 | g.6474677A= | CA1151507392 | PLEKHG5 | c.303-90T= (n.303-90T=) c.477-90T= (n.477-90T=) c.414-90T= (n.414-90T=) n.689T= c.510-90T= (n.510-90T=) c.600-90T= (n.600-90T=) c.*515-90T= (n.*515-90T=) c.*131-90T= (n.*131-90T=) c.264+20T= (n.264+20T=) c.534-90T= (n.534-90T=) c.471-90T= (n.471-90T=) c.540-90T= (n.540-90T=) | |
1 | g.6474677A>C | CA520766041 | PLEKHG5 | c.303-90T>G (n.303-90T>G) c.477-90T>G (n.477-90T>G) c.414-90T>G (n.414-90T>G) n.689T>G c.510-90T>G (n.510-90T>G) c.600-90T>G (n.600-90T>G) c.*515-90T>G (n.*515-90T>G) c.*131-90T>G (n.*131-90T>G) c.264+20T>G (n.264+20T>G) c.534-90T>G (n.534-90T>G) c.471-90T>G (n.471-90T>G) c.540-90T>G (n.540-90T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474677A>T | CA998179307 | PLEKHG5 | c.303-90T>A (n.303-90T>A) c.477-90T>A (n.477-90T>A) c.414-90T>A (n.414-90T>A) n.689T>A c.510-90T>A (n.510-90T>A) c.600-90T>A (n.600-90T>A) c.*515-90T>A (n.*515-90T>A) c.*131-90T>A (n.*131-90T>A) c.264+20T>A (n.264+20T>A) c.534-90T>A (n.534-90T>A) c.471-90T>A (n.471-90T>A) c.540-90T>A (n.540-90T>A) | gnomAD v3 gnomAD v4 |
1 | g.6474677_6474680del | CA520766040 | PLEKHG5 | c.303-93_303-90del (n.303-93_303-90del) c.477-93_477-90del (n.477-93_477-90del) c.414-93_414-90del (n.414-93_414-90del) n.686_689del c.510-93_510-90del (n.510-93_510-90del) c.600-93_600-90del (n.600-93_600-90del) c.*515-93_*515-90del (n.*515-93_*515-90del) c.*131-93_*131-90del (n.*131-93_*131-90del) c.264+17_264+20del (n.264+17_264+20del) c.534-93_534-90del (n.534-93_534-90del) c.471-93_471-90del (n.471-93_471-90del) c.540-93_540-90del (n.540-93_540-90del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474677_6474689del | CA2642980080 | PLEKHG5 | c.303-102_303-90del (n.303-102_303-90del) c.477-102_477-90del (n.477-102_477-90del) c.414-102_414-90del (n.414-102_414-90del) n.677_689del c.510-102_510-90del (n.510-102_510-90del) c.600-102_600-90del (n.600-102_600-90del) c.*515-102_*515-90del (n.*515-102_*515-90del) c.*131-102_*131-90del (n.*131-102_*131-90del) c.264+8_264+20del (n.264+8_264+20del) c.534-102_534-90del (n.534-102_534-90del) c.471-102_471-90del (n.471-102_471-90del) c.540-102_540-90del (n.540-102_540-90del) | gnomAD v4 |
1 | g.6474678C= | CA1151507405 | PLEKHG5 | c.303-91G= (n.303-91G=) c.477-91G= (n.477-91G=) c.414-91G= (n.414-91G=) n.688G= c.510-91G= (n.510-91G=) c.600-91G= (n.600-91G=) c.*515-91G= (n.*515-91G=) c.*131-91G= (n.*131-91G=) c.264+19G= (n.264+19G=) c.534-91G= (n.534-91G=) c.471-91G= (n.471-91G=) c.540-91G= (n.540-91G=) | |
1 | g.6474678C>T | CA1151507406 | PLEKHG5 | c.303-91G>A (n.303-91G>A) c.477-91G>A (n.477-91G>A) c.414-91G>A (n.414-91G>A) n.688G>A c.510-91G>A (n.510-91G>A) c.600-91G>A (n.600-91G>A) c.*515-91G>A (n.*515-91G>A) c.*131-91G>A (n.*131-91G>A) c.264+19G>A (n.264+19G>A) c.534-91G>A (n.534-91G>A) c.471-91G>A (n.471-91G>A) c.540-91G>A (n.540-91G>A) | dbSNP gnomAD v4 |
1 | g.6474678_6474680delinsCAG | CA1151507404 | PLEKHG5 | c.303-93_303-91delinsCTG (n.303-93_303-91delinsCTG) c.477-93_477-91delinsCTG (n.477-93_477-91delinsCTG) c.414-93_414-91delinsCTG (n.414-93_414-91delinsCTG) n.686_688delinsCTG c.510-93_510-91delinsCTG (n.510-93_510-91delinsCTG) c.600-93_600-91delinsCTG (n.600-93_600-91delinsCTG) c.*515-93_*515-91delinsCTG (n.*515-93_*515-91delinsCTG) c.*131-93_*131-91delinsCTG (n.*131-93_*131-91delinsCTG) c.264+17_264+19delinsCTG (n.264+17_264+19delinsCTG) c.534-93_534-91delinsCTG (n.534-93_534-91delinsCTG) c.471-93_471-91delinsCTG (n.471-93_471-91delinsCTG) c.540-93_540-91delinsCTG (n.540-93_540-91delinsCTG) | |
1 | g.6474679A= | CA1151507409 | PLEKHG5 | c.303-92T= (n.303-92T=) c.477-92T= (n.477-92T=) c.414-92T= (n.414-92T=) n.687T= c.510-92T= (n.510-92T=) c.600-92T= (n.600-92T=) c.*515-92T= (n.*515-92T=) c.*131-92T= (n.*131-92T=) c.264+18T= (n.264+18T=) c.534-92T= (n.534-92T=) c.471-92T= (n.471-92T=) c.540-92T= (n.540-92T=) | |
1 | g.6474679A>C | CA520766043 | PLEKHG5 | c.303-92T>G (n.303-92T>G) c.477-92T>G (n.477-92T>G) c.414-92T>G (n.414-92T>G) n.687T>G c.510-92T>G (n.510-92T>G) c.600-92T>G (n.600-92T>G) c.*515-92T>G (n.*515-92T>G) c.*131-92T>G (n.*131-92T>G) c.264+18T>G (n.264+18T>G) c.534-92T>G (n.534-92T>G) c.471-92T>G (n.471-92T>G) c.540-92T>G (n.540-92T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474679A>G | CA2642980096 | PLEKHG5 | c.303-92T>C (n.303-92T>C) c.477-92T>C (n.477-92T>C) c.414-92T>C (n.414-92T>C) n.687T>C c.510-92T>C (n.510-92T>C) c.600-92T>C (n.600-92T>C) c.*515-92T>C (n.*515-92T>C) c.*131-92T>C (n.*131-92T>C) c.264+18T>C (n.264+18T>C) c.534-92T>C (n.534-92T>C) c.471-92T>C (n.471-92T>C) c.540-92T>C (n.540-92T>C) | gnomAD v4 |
1 | g.6474679_6474680del | CA520766042 | PLEKHG5 | c.303-93_303-92del (n.303-93_303-92del) c.477-93_477-92del (n.477-93_477-92del) c.414-93_414-92del (n.414-93_414-92del) n.686_687del c.510-93_510-92del (n.510-93_510-92del) c.600-93_600-92del (n.600-93_600-92del) c.*515-93_*515-92del (n.*515-93_*515-92del) c.*131-93_*131-92del (n.*131-93_*131-92del) c.264+17_264+18del (n.264+17_264+18del) c.534-93_534-92del (n.534-93_534-92del) c.471-93_471-92del (n.471-93_471-92del) c.540-93_540-92del (n.540-93_540-92del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474680G>A | CA913210028 | PLEKHG5 | c.303-93C>T (n.303-93C>T) c.477-93C>T (n.477-93C>T) c.414-93C>T (n.414-93C>T) n.686C>T c.510-93C>T (n.510-93C>T) c.600-93C>T (n.600-93C>T) c.*515-93C>T (n.*515-93C>T) c.*131-93C>T (n.*131-93C>T) c.264+17C>T (n.264+17C>T) c.534-93C>T (n.534-93C>T) c.471-93C>T (n.471-93C>T) c.540-93C>T (n.540-93C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474680G>C | CA520766044 | PLEKHG5 | c.303-93C>G (n.303-93C>G) c.477-93C>G (n.477-93C>G) c.414-93C>G (n.414-93C>G) n.686C>G c.510-93C>G (n.510-93C>G) c.600-93C>G (n.600-93C>G) c.*515-93C>G (n.*515-93C>G) c.*131-93C>G (n.*131-93C>G) c.264+17C>G (n.264+17C>G) c.534-93C>G (n.534-93C>G) c.471-93C>G (n.471-93C>G) c.540-93C>G (n.540-93C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474680G= | CA1151507411 | PLEKHG5 | c.303-93C= (n.303-93C=) c.477-93C= (n.477-93C=) c.414-93C= (n.414-93C=) n.686C= c.510-93C= (n.510-93C=) c.600-93C= (n.600-93C=) c.*515-93C= (n.*515-93C=) c.*131-93C= (n.*131-93C=) c.264+17C= (n.264+17C=) c.534-93C= (n.534-93C=) c.471-93C= (n.471-93C=) c.540-93C= (n.540-93C=) | |
1 | g.6474680G>T | CA2642980104 | PLEKHG5 | c.303-93C>A (n.303-93C>A) c.477-93C>A (n.477-93C>A) c.414-93C>A (n.414-93C>A) n.686C>A c.510-93C>A (n.510-93C>A) c.600-93C>A (n.600-93C>A) c.*515-93C>A (n.*515-93C>A) c.*131-93C>A (n.*131-93C>A) c.264+17C>A (n.264+17C>A) c.534-93C>A (n.534-93C>A) c.471-93C>A (n.471-93C>A) c.540-93C>A (n.540-93C>A) | gnomAD v4 |
1 | g.6474681C>A | CA2574193737 | PLEKHG5 | c.303-94G>T (n.303-94G>T) c.477-94G>T (n.477-94G>T) c.414-94G>T (n.414-94G>T) n.685G>T c.510-94G>T (n.510-94G>T) c.600-94G>T (n.600-94G>T) c.*515-94G>T (n.*515-94G>T) c.*131-94G>T (n.*131-94G>T) c.264+16G>T (n.264+16G>T) c.534-94G>T (n.534-94G>T) c.471-94G>T (n.471-94G>T) c.540-94G>T (n.540-94G>T) | |
1 | g.6474681C>T | CA2574193738 | PLEKHG5 | c.303-94G>A (n.303-94G>A) c.477-94G>A (n.477-94G>A) c.414-94G>A (n.414-94G>A) n.685G>A c.510-94G>A (n.510-94G>A) c.600-94G>A (n.600-94G>A) c.*515-94G>A (n.*515-94G>A) c.*131-94G>A (n.*131-94G>A) c.264+16G>A (n.264+16G>A) c.534-94G>A (n.534-94G>A) c.471-94G>A (n.471-94G>A) c.540-94G>A (n.540-94G>A) | gnomAD v4 |
1 | g.6474684dup | CA520766045 | PLEKHG5 | c.303-94dup (n.303-94dup) c.477-94dup (n.477-94dup) c.414-94dup (n.414-94dup) n.685dup c.510-94dup (n.510-94dup) c.600-94dup (n.600-94dup) c.*515-94dup (n.*515-94dup) c.*131-94dup (n.*131-94dup) c.264+16dup (n.264+16dup) c.534-94dup (n.534-94dup) c.471-94dup (n.471-94dup) c.540-94dup (n.540-94dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474684del | CA2642980109 | PLEKHG5 | c.303-94del (n.303-94del) c.477-94del (n.477-94del) c.414-94del (n.414-94del) n.685del c.510-94del (n.510-94del) c.600-94del (n.600-94del) c.*515-94del (n.*515-94del) c.*131-94del (n.*131-94del) c.264+16del (n.264+16del) c.534-94del (n.534-94del) c.471-94del (n.471-94del) c.540-94del (n.540-94del) | gnomAD v4 |
1 | g.6474682C>T | CA2574193741 | PLEKHG5 | c.303-95G>A (n.303-95G>A) c.477-95G>A (n.477-95G>A) c.414-95G>A (n.414-95G>A) n.684G>A c.510-95G>A (n.510-95G>A) c.600-95G>A (n.600-95G>A) c.*515-95G>A (n.*515-95G>A) c.*131-95G>A (n.*131-95G>A) c.264+15G>A (n.264+15G>A) c.534-95G>A (n.534-95G>A) c.471-95G>A (n.471-95G>A) c.540-95G>A (n.540-95G>A) | gnomAD v4 |
1 | g.6474683C>T | CA2642980116 | PLEKHG5 | c.303-96G>A (n.303-96G>A) c.477-96G>A (n.477-96G>A) c.414-96G>A (n.414-96G>A) n.683G>A c.510-96G>A (n.510-96G>A) c.600-96G>A (n.600-96G>A) c.*515-96G>A (n.*515-96G>A) c.*131-96G>A (n.*131-96G>A) c.264+14G>A (n.264+14G>A) c.534-96G>A (n.534-96G>A) c.471-96G>A (n.471-96G>A) c.540-96G>A (n.540-96G>A) | gnomAD v4 |
1 | g.6474684C>T | CA2642980119 | PLEKHG5 | c.303-97G>A (n.303-97G>A) c.477-97G>A (n.477-97G>A) c.414-97G>A (n.414-97G>A) n.682G>A c.510-97G>A (n.510-97G>A) c.600-97G>A (n.600-97G>A) c.*515-97G>A (n.*515-97G>A) c.*131-97G>A (n.*131-97G>A) c.264+13G>A (n.264+13G>A) c.534-97G>A (n.534-97G>A) c.471-97G>A (n.471-97G>A) c.540-97G>A (n.540-97G>A) | gnomAD v4 |
1 | g.6474684_6474689delinsCAGCTG | CA1151507415 | PLEKHG5 | c.303-102_303-97delinsCAGCTG (n.303-102_303-97delinsCAGCTG) c.477-102_477-97delinsCAGCTG (n.477-102_477-97delinsCAGCTG) c.414-102_414-97delinsCAGCTG (n.414-102_414-97delinsCAGCTG) n.677_682delinsCAGCTG c.510-102_510-97delinsCAGCTG (n.510-102_510-97delinsCAGCTG) c.600-102_600-97delinsCAGCTG (n.600-102_600-97delinsCAGCTG) c.*515-102_*515-97delinsCAGCTG (n.*515-102_*515-97delinsCAGCTG) c.*131-102_*131-97delinsCAGCTG (n.*131-102_*131-97delinsCAGCTG) c.264+8_264+13delinsCAGCTG (n.264+8_264+13delinsCAGCTG) c.534-102_534-97delinsCAGCTG (n.534-102_534-97delinsCAGCTG) c.471-102_471-97delinsCAGCTG (n.471-102_471-97delinsCAGCTG) c.540-102_540-97delinsCAGCTG (n.540-102_540-97delinsCAGCTG) | |
1 | g.6474685A= | CA1151507416 | PLEKHG5 | c.303-98T= (n.303-98T=) c.477-98T= (n.477-98T=) c.414-98T= (n.414-98T=) n.681T= c.510-98T= (n.510-98T=) c.600-98T= (n.600-98T=) c.*515-98T= (n.*515-98T=) c.*131-98T= (n.*131-98T=) c.264+12T= (n.264+12T=) c.534-98T= (n.534-98T=) c.471-98T= (n.471-98T=) c.540-98T= (n.540-98T=) | |
1 | g.6474685A>C | CA998179323 | PLEKHG5 | c.303-98T>G (n.303-98T>G) c.477-98T>G (n.477-98T>G) c.414-98T>G (n.414-98T>G) n.681T>G c.510-98T>G (n.510-98T>G) c.600-98T>G (n.600-98T>G) c.*515-98T>G (n.*515-98T>G) c.*131-98T>G (n.*131-98T>G) c.264+12T>G (n.264+12T>G) c.534-98T>G (n.534-98T>G) c.471-98T>G (n.471-98T>G) c.540-98T>G (n.540-98T>G) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.6474685A>G | CA2642980128 | PLEKHG5 | c.303-98T>C (n.303-98T>C) c.477-98T>C (n.477-98T>C) c.414-98T>C (n.414-98T>C) n.681T>C c.510-98T>C (n.510-98T>C) c.600-98T>C (n.600-98T>C) c.*515-98T>C (n.*515-98T>C) c.*131-98T>C (n.*131-98T>C) c.264+12T>C (n.264+12T>C) c.534-98T>C (n.534-98T>C) c.471-98T>C (n.471-98T>C) c.540-98T>C (n.540-98T>C) | gnomAD v4 |
1 | g.6474685_6474686del | CA520766047 | PLEKHG5 | c.303-99_303-98del (n.303-99_303-98del) c.477-99_477-98del (n.477-99_477-98del) c.414-99_414-98del (n.414-99_414-98del) n.680_681del c.510-99_510-98del (n.510-99_510-98del) c.600-99_600-98del (n.600-99_600-98del) c.*515-99_*515-98del (n.*515-99_*515-98del) c.*131-99_*131-98del (n.*131-99_*131-98del) c.264+11_264+12del (n.264+11_264+12del) c.534-99_534-98del (n.534-99_534-98del) c.471-99_471-98del (n.471-99_471-98del) c.540-99_540-98del (n.540-99_540-98del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474685_6474689del | CA520766046 | PLEKHG5 | c.303-102_303-98del (n.303-102_303-98del) c.477-102_477-98del (n.477-102_477-98del) c.414-102_414-98del (n.414-102_414-98del) n.677_681del c.510-102_510-98del (n.510-102_510-98del) c.600-102_600-98del (n.600-102_600-98del) c.*515-102_*515-98del (n.*515-102_*515-98del) c.*131-102_*131-98del (n.*131-102_*131-98del) c.264+8_264+12del (n.264+8_264+12del) c.534-102_534-98del (n.534-102_534-98del) c.471-102_471-98del (n.471-102_471-98del) c.540-102_540-98del (n.540-102_540-98del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474685_6474686insCCCCCCCCCCC | CA2563242988 | PLEKHG5 | c.303-99_303-98insGGGGGGGGGGG (n.303-99_303-98insGGGGGGGGGGG) c.477-99_477-98insGGGGGGGGGGG (n.477-99_477-98insGGGGGGGGGGG) c.414-99_414-98insGGGGGGGGGGG (n.414-99_414-98insGGGGGGGGGGG) n.680_681insGGGGGGGGGGG c.510-99_510-98insGGGGGGGGGGG (n.510-99_510-98insGGGGGGGGGGG) c.600-99_600-98insGGGGGGGGGGG (n.600-99_600-98insGGGGGGGGGGG) c.*515-99_*515-98insGGGGGGGGGGG (n.*515-99_*515-98insGGGGGGGGGGG) c.*131-99_*131-98insGGGGGGGGGGG (n.*131-99_*131-98insGGGGGGGGGGG) c.264+11_264+12insGGGGGGGGGGG (n.264+11_264+12insGGGGGGGGGGG) c.534-99_534-98insGGGGGGGGGGG (n.534-99_534-98insGGGGGGGGGGG) c.471-99_471-98insGGGGGGGGGGG (n.471-99_471-98insGGGGGGGGGGG) c.540-99_540-98insGGGGGGGGGGG (n.540-99_540-98insGGGGGGGGGGG) | |
1 | g.6474686G>A | CA2642980135 | PLEKHG5 | c.303-99C>T (n.303-99C>T) c.477-99C>T (n.477-99C>T) c.414-99C>T (n.414-99C>T) n.680C>T c.510-99C>T (n.510-99C>T) c.600-99C>T (n.600-99C>T) c.*515-99C>T (n.*515-99C>T) c.*131-99C>T (n.*131-99C>T) c.264+11C>T (n.264+11C>T) c.534-99C>T (n.534-99C>T) c.471-99C>T (n.471-99C>T) c.540-99C>T (n.540-99C>T) | gnomAD v4 |
1 | g.6474686G>C | CA998179324 | PLEKHG5 | c.303-99C>G (n.303-99C>G) c.477-99C>G (n.477-99C>G) c.414-99C>G (n.414-99C>G) n.680C>G c.510-99C>G (n.510-99C>G) c.600-99C>G (n.600-99C>G) c.*515-99C>G (n.*515-99C>G) c.*131-99C>G (n.*131-99C>G) c.264+11C>G (n.264+11C>G) c.534-99C>G (n.534-99C>G) c.471-99C>G (n.471-99C>G) c.540-99C>G (n.540-99C>G) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.6474686G= | CA1151507419 | PLEKHG5 | c.303-99C= (n.303-99C=) c.477-99C= (n.477-99C=) c.414-99C= (n.414-99C=) n.680C= c.510-99C= (n.510-99C=) c.600-99C= (n.600-99C=) c.*515-99C= (n.*515-99C=) c.*131-99C= (n.*131-99C=) c.264+11C= (n.264+11C=) c.534-99C= (n.534-99C=) c.471-99C= (n.471-99C=) c.540-99C= (n.540-99C=) | |
1 | g.6474686G>T | CA2642980139 | PLEKHG5 | c.303-99C>A (n.303-99C>A) c.477-99C>A (n.477-99C>A) c.414-99C>A (n.414-99C>A) n.680C>A c.510-99C>A (n.510-99C>A) c.600-99C>A (n.600-99C>A) c.*515-99C>A (n.*515-99C>A) c.*131-99C>A (n.*131-99C>A) c.264+11C>A (n.264+11C>A) c.534-99C>A (n.534-99C>A) c.471-99C>A (n.471-99C>A) c.540-99C>A (n.540-99C>A) | gnomAD v4 |
1 | g.6474687C>G | CA2742323576 | PLEKHG5 | c.303-100G>C (n.303-100G>C) c.477-100G>C (n.477-100G>C) c.414-100G>C (n.414-100G>C) n.679G>C c.510-100G>C (n.510-100G>C) c.600-100G>C (n.600-100G>C) c.*515-100G>C (n.*515-100G>C) c.*131-100G>C (n.*131-100G>C) c.264+10G>C (n.264+10G>C) c.534-100G>C (n.534-100G>C) c.471-100G>C (n.471-100G>C) c.540-100G>C (n.540-100G>C) | |
1 | g.6474687C>T | CA2574193743 | PLEKHG5 | c.303-100G>A (n.303-100G>A) c.477-100G>A (n.477-100G>A) c.414-100G>A (n.414-100G>A) n.679G>A c.510-100G>A (n.510-100G>A) c.600-100G>A (n.600-100G>A) c.*515-100G>A (n.*515-100G>A) c.*131-100G>A (n.*131-100G>A) c.264+10G>A (n.264+10G>A) c.534-100G>A (n.534-100G>A) c.471-100G>A (n.471-100G>A) c.540-100G>A (n.540-100G>A) | |
1 | g.6474687_6474688insCCCCC | CA2534554897 | PLEKHG5 | c.303-100_303-99insGGGGG (n.303-100_303-99insGGGGG) c.477-100_477-99insGGGGG (n.477-100_477-99insGGGGG) c.414-100_414-99insGGGGG (n.414-100_414-99insGGGGG) n.679_680insGGGGG c.510-100_510-99insGGGGG (n.510-100_510-99insGGGGG) c.600-100_600-99insGGGGG (n.600-100_600-99insGGGGG) c.*515-100_*515-99insGGGGG (n.*515-100_*515-99insGGGGG) c.*131-100_*131-99insGGGGG (n.*131-100_*131-99insGGGGG) c.264+10_264+11insGGGGG (n.264+10_264+11insGGGGG) c.534-100_534-99insGGGGG (n.534-100_534-99insGGGGG) c.471-100_471-99insGGGGG (n.471-100_471-99insGGGGG) c.540-100_540-99insGGGGG (n.540-100_540-99insGGGGG) | |
1 | g.6474687_6474688insCCCCCCCC | CA998179325 | PLEKHG5 | c.303-100_303-99insGGGGGGGG (n.303-100_303-99insGGGGGGGG) c.477-100_477-99insGGGGGGGG (n.477-100_477-99insGGGGGGGG) c.414-100_414-99insGGGGGGGG (n.414-100_414-99insGGGGGGGG) n.679_680insGGGGGGGG c.510-100_510-99insGGGGGGGG (n.510-100_510-99insGGGGGGGG) c.600-100_600-99insGGGGGGGG (n.600-100_600-99insGGGGGGGG) c.*515-100_*515-99insGGGGGGGG (n.*515-100_*515-99insGGGGGGGG) c.*131-100_*131-99insGGGGGGGG (n.*131-100_*131-99insGGGGGGGG) c.264+10_264+11insGGGGGGGG (n.264+10_264+11insGGGGGGGG) c.534-100_534-99insGGGGGGGG (n.534-100_534-99insGGGGGGGG) c.471-100_471-99insGGGGGGGG (n.471-100_471-99insGGGGGGGG) c.540-100_540-99insGGGGGGGG (n.540-100_540-99insGGGGGGGG) | gnomAD v3 gnomAD v4 |
1 | g.6474688T>C | CA520766048 | PLEKHG5 | c.303-101A>G (n.303-101A>G) c.477-101A>G (n.477-101A>G) c.414-101A>G (n.414-101A>G) n.678A>G c.510-101A>G (n.510-101A>G) c.600-101A>G (n.600-101A>G) c.*515-101A>G (n.*515-101A>G) c.*131-101A>G (n.*131-101A>G) c.264+9A>G (n.264+9A>G) c.534-101A>G (n.534-101A>G) c.471-101A>G (n.471-101A>G) c.540-101A>G (n.540-101A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474688T>G | CA2642980145 | PLEKHG5 | c.303-101A>C (n.303-101A>C) c.477-101A>C (n.477-101A>C) c.414-101A>C (n.414-101A>C) n.678A>C c.510-101A>C (n.510-101A>C) c.600-101A>C (n.600-101A>C) c.*515-101A>C (n.*515-101A>C) c.*131-101A>C (n.*131-101A>C) c.264+9A>C (n.264+9A>C) c.534-101A>C (n.534-101A>C) c.471-101A>C (n.471-101A>C) c.540-101A>C (n.540-101A>C) | gnomAD v4 |
1 | g.6474688T= | CA1151507424 | PLEKHG5 | c.303-101A= (n.303-101A=) c.477-101A= (n.477-101A=) c.414-101A= (n.414-101A=) n.678A= c.510-101A= (n.510-101A=) c.600-101A= (n.600-101A=) c.*515-101A= (n.*515-101A=) c.*131-101A= (n.*131-101A=) c.264+9A= (n.264+9A=) c.534-101A= (n.534-101A=) c.471-101A= (n.471-101A=) c.540-101A= (n.540-101A=) | |
1 | g.6474688_6474689del | CA998179328 | PLEKHG5 | c.303-102_303-101del (n.303-102_303-101del) c.477-102_477-101del (n.477-102_477-101del) c.414-102_414-101del (n.414-102_414-101del) n.677_678del c.510-102_510-101del (n.510-102_510-101del) c.600-102_600-101del (n.600-102_600-101del) c.*515-102_*515-101del (n.*515-102_*515-101del) c.*131-102_*131-101del (n.*131-102_*131-101del) c.264+8_264+9del (n.264+8_264+9del) c.534-102_534-101del (n.534-102_534-101del) c.471-102_471-101del (n.471-102_471-101del) c.540-102_540-101del (n.540-102_540-101del) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.6474689G>A | CA2642980147 | PLEKHG5 | c.303-102C>T (n.303-102C>T) c.477-102C>T (n.477-102C>T) c.414-102C>T (n.414-102C>T) n.677C>T c.510-102C>T (n.510-102C>T) c.600-102C>T (n.600-102C>T) c.*515-102C>T (n.*515-102C>T) c.*131-102C>T (n.*131-102C>T) c.264+8C>T (n.264+8C>T) c.534-102C>T (n.534-102C>T) c.471-102C>T (n.471-102C>T) c.540-102C>T (n.540-102C>T) | gnomAD v4 |
1 | g.6474689G>C | CA520766049 | PLEKHG5 | c.303-102C>G (n.303-102C>G) c.477-102C>G (n.477-102C>G) c.414-102C>G (n.414-102C>G) n.677C>G c.510-102C>G (n.510-102C>G) c.600-102C>G (n.600-102C>G) c.*515-102C>G (n.*515-102C>G) c.*131-102C>G (n.*131-102C>G) c.264+8C>G (n.264+8C>G) c.534-102C>G (n.534-102C>G) c.471-102C>G (n.471-102C>G) c.540-102C>G (n.540-102C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474689G= | CA1151507429 | PLEKHG5 | c.303-102C= (n.303-102C=) c.477-102C= (n.477-102C=) c.414-102C= (n.414-102C=) n.677C= c.510-102C= (n.510-102C=) c.600-102C= (n.600-102C=) c.*515-102C= (n.*515-102C=) c.*131-102C= (n.*131-102C=) c.264+8C= (n.264+8C=) c.534-102C= (n.534-102C=) c.471-102C= (n.471-102C=) c.540-102C= (n.540-102C=) | |
1 | g.6474690C>A | CA2642980153 | PLEKHG5 | c.303-103G>T (n.303-103G>T) c.477-103G>T (n.477-103G>T) c.414-103G>T (n.414-103G>T) n.676G>T c.510-103G>T (n.510-103G>T) c.600-103G>T (n.600-103G>T) c.*515-103G>T (n.*515-103G>T) c.*131-103G>T (n.*131-103G>T) c.264+7G>T (n.264+7G>T) c.534-103G>T (n.534-103G>T) c.471-103G>T (n.471-103G>T) c.540-103G>T (n.540-103G>T) | gnomAD v4 |
1 | g.6474690C>T | CA2642980178 | PLEKHG5 | c.303-103G>A (n.303-103G>A) c.477-103G>A (n.477-103G>A) c.414-103G>A (n.414-103G>A) n.676G>A c.510-103G>A (n.510-103G>A) c.600-103G>A (n.600-103G>A) c.*515-103G>A (n.*515-103G>A) c.*131-103G>A (n.*131-103G>A) c.264+7G>A (n.264+7G>A) c.534-103G>A (n.534-103G>A) c.471-103G>A (n.471-103G>A) c.540-103G>A (n.540-103G>A) | gnomAD v4 |
1 | g.6474694_6474695insCCCCCCCC | CA998179330 | PLEKHG5 | c.303-103_303-102insGGGGGGGG (n.303-103_303-102insGGGGGGGG) c.477-103_477-102insGGGGGGGG (n.477-103_477-102insGGGGGGGG) c.414-103_414-102insGGGGGGGG (n.414-103_414-102insGGGGGGGG) n.676_677insGGGGGGGG c.510-103_510-102insGGGGGGGG (n.510-103_510-102insGGGGGGGG) c.600-103_600-102insGGGGGGGG (n.600-103_600-102insGGGGGGGG) c.*515-103_*515-102insGGGGGGGG (n.*515-103_*515-102insGGGGGGGG) c.*131-103_*131-102insGGGGGGGG (n.*131-103_*131-102insGGGGGGGG) c.264+7_264+8insGGGGGGGG (n.264+7_264+8insGGGGGGGG) c.534-103_534-102insGGGGGGGG (n.534-103_534-102insGGGGGGGG) c.471-103_471-102insGGGGGGGG (n.471-103_471-102insGGGGGGGG) c.540-103_540-102insGGGGGGGG (n.540-103_540-102insGGGGGGGG) | gnomAD v3 gnomAD v4 |
1 | g.6474694_6474695insCCCCCCCCC | CA2512725535 | PLEKHG5 | c.303-103_303-102insGGGGGGGGG (n.303-103_303-102insGGGGGGGGG) c.477-103_477-102insGGGGGGGGG (n.477-103_477-102insGGGGGGGGG) c.414-103_414-102insGGGGGGGGG (n.414-103_414-102insGGGGGGGGG) n.676_677insGGGGGGGGG c.510-103_510-102insGGGGGGGGG (n.510-103_510-102insGGGGGGGGG) c.600-103_600-102insGGGGGGGGG (n.600-103_600-102insGGGGGGGGG) c.*515-103_*515-102insGGGGGGGGG (n.*515-103_*515-102insGGGGGGGGG) c.*131-103_*131-102insGGGGGGGGG (n.*131-103_*131-102insGGGGGGGGG) c.264+7_264+8insGGGGGGGGG (n.264+7_264+8insGGGGGGGGG) c.534-103_534-102insGGGGGGGGG (n.534-103_534-102insGGGGGGGGG) c.471-103_471-102insGGGGGGGGG (n.471-103_471-102insGGGGGGGGG) c.540-103_540-102insGGGGGGGGG (n.540-103_540-102insGGGGGGGGG) | |
1 | g.6474694_6474695insCCCCCCCCCCC | CA998179331 | PLEKHG5 | c.303-103_303-102insGGGGGGGGGGG (n.303-103_303-102insGGGGGGGGGGG) c.477-103_477-102insGGGGGGGGGGG (n.477-103_477-102insGGGGGGGGGGG) c.414-103_414-102insGGGGGGGGGGG (n.414-103_414-102insGGGGGGGGGGG) n.676_677insGGGGGGGGGGG c.510-103_510-102insGGGGGGGGGGG (n.510-103_510-102insGGGGGGGGGGG) c.600-103_600-102insGGGGGGGGGGG (n.600-103_600-102insGGGGGGGGGGG) c.*515-103_*515-102insGGGGGGGGGGG (n.*515-103_*515-102insGGGGGGGGGGG) c.*131-103_*131-102insGGGGGGGGGGG (n.*131-103_*131-102insGGGGGGGGGGG) c.264+7_264+8insGGGGGGGGGGG (n.264+7_264+8insGGGGGGGGGGG) c.534-103_534-102insGGGGGGGGGGG (n.534-103_534-102insGGGGGGGGGGG) c.471-103_471-102insGGGGGGGGGGG (n.471-103_471-102insGGGGGGGGGGG) c.540-103_540-102insGGGGGGGGGGG (n.540-103_540-102insGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
1 | g.6474694dup | CA2642980184 | PLEKHG5 | c.303-103dup (n.303-103dup) c.477-103dup (n.477-103dup) c.414-103dup (n.414-103dup) n.676dup c.510-103dup (n.510-103dup) c.600-103dup (n.600-103dup) c.*515-103dup (n.*515-103dup) c.*131-103dup (n.*131-103dup) c.264+7dup (n.264+7dup) c.534-103dup (n.534-103dup) c.471-103dup (n.471-103dup) c.540-103dup (n.540-103dup) | gnomAD v4 |
1 | g.6474694del | CA2642980182 | PLEKHG5 | c.303-103del (n.303-103del) c.477-103del (n.477-103del) c.414-103del (n.414-103del) n.676del c.510-103del (n.510-103del) c.600-103del (n.600-103del) c.*515-103del (n.*515-103del) c.*131-103del (n.*131-103del) c.264+7del (n.264+7del) c.534-103del (n.534-103del) c.471-103del (n.471-103del) c.540-103del (n.540-103del) | gnomAD v4 |
1 | g.6474691C>T | CA2642980193 | PLEKHG5 | c.303-104G>A (n.303-104G>A) c.477-104G>A (n.477-104G>A) c.414-104G>A (n.414-104G>A) n.675G>A c.510-104G>A (n.510-104G>A) c.600-104G>A (n.600-104G>A) c.*515-104G>A (n.*515-104G>A) c.*131-104G>A (n.*131-104G>A) c.264+6G>A (n.264+6G>A) c.534-104G>A (n.534-104G>A) c.471-104G>A (n.471-104G>A) c.540-104G>A (n.540-104G>A) | gnomAD v4 |
1 | g.6474692C= | CA1151507434 | PLEKHG5 | c.303-105G= (n.303-105G=) c.477-105G= (n.477-105G=) c.414-105G= (n.414-105G=) n.674G= c.510-105G= (n.510-105G=) c.600-105G= (n.600-105G=) c.*515-105G= (n.*515-105G=) c.*131-105G= (n.*131-105G=) c.264+5G= (n.264+5G=) c.534-105G= (n.534-105G=) c.471-105G= (n.471-105G=) c.540-105G= (n.540-105G=) | |
1 | g.6474692C>G | CA998179332 | PLEKHG5 | c.303-105G>C (n.303-105G>C) c.477-105G>C (n.477-105G>C) c.414-105G>C (n.414-105G>C) n.674G>C c.510-105G>C (n.510-105G>C) c.600-105G>C (n.600-105G>C) c.*515-105G>C (n.*515-105G>C) c.*131-105G>C (n.*131-105G>C) c.264+5G>C (n.264+5G>C) c.534-105G>C (n.534-105G>C) c.471-105G>C (n.471-105G>C) c.540-105G>C (n.540-105G>C) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.6474692C>T | CA737855017 | PLEKHG5 | c.303-105G>A (n.303-105G>A) c.477-105G>A (n.477-105G>A) c.414-105G>A (n.414-105G>A) n.674G>A c.510-105G>A (n.510-105G>A) c.600-105G>A (n.600-105G>A) c.*515-105G>A (n.*515-105G>A) c.*131-105G>A (n.*131-105G>A) c.264+5G>A (n.264+5G>A) c.534-105G>A (n.534-105G>A) c.471-105G>A (n.471-105G>A) c.540-105G>A (n.540-105G>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.6474693C>T | CA2642980196 | PLEKHG5 | c.303-106G>A (n.303-106G>A) c.477-106G>A (n.477-106G>A) c.414-106G>A (n.414-106G>A) n.673G>A c.510-106G>A (n.510-106G>A) c.600-106G>A (n.600-106G>A) c.*515-106G>A (n.*515-106G>A) c.*131-106G>A (n.*131-106G>A) c.264+4G>A (n.264+4G>A) c.534-106G>A (n.534-106G>A) c.471-106G>A (n.471-106G>A) c.540-106G>A (n.540-106G>A) | gnomAD v4 |
1 | g.6474695_6474701del | CA2528890346 | PLEKHG5 | c.303-112_303-106del (n.303-112_303-106del) c.477-112_477-106del (n.477-112_477-106del) c.414-112_414-106del (n.414-112_414-106del) n.667_673del c.510-112_510-106del (n.510-112_510-106del) c.600-112_600-106del (n.600-112_600-106del) c.*515-112_*515-106del (n.*515-112_*515-106del) c.*131-112_*131-106del (n.*131-112_*131-106del) c.262_264+4del c.534-112_534-106del (n.534-112_534-106del) c.471-112_471-106del (n.471-112_471-106del) c.540-112_540-106del (n.540-112_540-106del) | |
1 | g.6474694C>A | CA2642980202 | PLEKHG5 | c.303-107G>T (n.303-107G>T) c.477-107G>T (n.477-107G>T) c.414-107G>T (n.414-107G>T) n.672G>T c.510-107G>T (n.510-107G>T) c.600-107G>T (n.600-107G>T) c.*515-107G>T (n.*515-107G>T) c.*131-107G>T (n.*131-107G>T) c.264+3G>T (n.264+3G>T) c.534-107G>T (n.534-107G>T) c.471-107G>T (n.471-107G>T) c.540-107G>T (n.540-107G>T) | gnomAD v4 |
1 | g.6474694C= | CA1151507439 | PLEKHG5 | c.303-107G= (n.303-107G=) c.477-107G= (n.477-107G=) c.414-107G= (n.414-107G=) n.672G= c.510-107G= (n.510-107G=) c.600-107G= (n.600-107G=) c.*515-107G= (n.*515-107G=) c.*131-107G= (n.*131-107G=) c.264+3G= (n.264+3G=) c.534-107G= (n.534-107G=) c.471-107G= (n.471-107G=) c.540-107G= (n.540-107G=) | |
1 | g.6474694C>G | CA17243981 | PLEKHG5 | c.303-107G>C (n.303-107G>C) c.477-107G>C (n.477-107G>C) c.414-107G>C (n.414-107G>C) n.672G>C c.510-107G>C (n.510-107G>C) c.600-107G>C (n.600-107G>C) c.*515-107G>C (n.*515-107G>C) c.*131-107G>C (n.*131-107G>C) c.264+3G>C (n.264+3G>C) c.534-107G>C (n.534-107G>C) c.471-107G>C (n.471-107G>C) c.540-107G>C (n.540-107G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474695A= | CA1151507440 | PLEKHG5 | c.303-108T= (n.303-108T=) c.477-108T= (n.477-108T=) c.414-108T= (n.414-108T=) n.671T= c.510-108T= (n.510-108T=) c.600-108T= (n.600-108T=) c.*515-108T= (n.*515-108T=) c.*131-108T= (n.*131-108T=) c.264+2T= (n.264+2T=) c.534-108T= (n.534-108T=) c.471-108T= (n.471-108T=) c.540-108T= (n.540-108T=) | |
1 | g.6474695A>C | CA520766050 | PLEKHG5 | c.303-108T>G (n.303-108T>G) c.477-108T>G (n.477-108T>G) c.414-108T>G (n.414-108T>G) n.671T>G c.510-108T>G (n.510-108T>G) c.600-108T>G (n.600-108T>G) c.*515-108T>G (n.*515-108T>G) c.*131-108T>G (n.*131-108T>G) c.264+2T>G (n.264+2T>G) c.534-108T>G (n.534-108T>G) c.471-108T>G (n.471-108T>G) c.540-108T>G (n.540-108T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474695A>G | CA2642980213 | PLEKHG5 | c.303-108T>C (n.303-108T>C) c.477-108T>C (n.477-108T>C) c.414-108T>C (n.414-108T>C) n.671T>C c.510-108T>C (n.510-108T>C) c.600-108T>C (n.600-108T>C) c.*515-108T>C (n.*515-108T>C) c.*131-108T>C (n.*131-108T>C) c.264+2T>C (n.264+2T>C) c.534-108T>C (n.534-108T>C) c.471-108T>C (n.471-108T>C) c.540-108T>C (n.540-108T>C) | gnomAD v4 |
1 | g.6474695A>T | CA520766051 | PLEKHG5 | c.303-108T>A (n.303-108T>A) c.477-108T>A (n.477-108T>A) c.414-108T>A (n.414-108T>A) n.671T>A c.510-108T>A (n.510-108T>A) c.600-108T>A (n.600-108T>A) c.*515-108T>A (n.*515-108T>A) c.*131-108T>A (n.*131-108T>A) c.264+2T>A (n.264+2T>A) c.534-108T>A (n.534-108T>A) c.471-108T>A (n.471-108T>A) c.540-108T>A (n.540-108T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474695_6474699del | CA998179341 | PLEKHG5 | c.303-112_303-108del (n.303-112_303-108del) c.477-112_477-108del (n.477-112_477-108del) c.414-112_414-108del (n.414-112_414-108del) n.667_671del c.510-112_510-108del (n.510-112_510-108del) c.600-112_600-108del (n.600-112_600-108del) c.*515-112_*515-108del (n.*515-112_*515-108del) c.*131-112_*131-108del (n.*131-112_*131-108del) c.262_264+2del c.534-112_534-108del (n.534-112_534-108del) c.471-112_471-108del (n.471-112_471-108del) c.540-112_540-108del (n.540-112_540-108del) | gnomAD v3 gnomAD v4 |
1 | g.6474696C= | CA1151507443 | PLEKHG5 | c.303-109G= (n.303-109G=) c.477-109G= (n.477-109G=) c.414-109G= (n.414-109G=) n.670G= c.510-109G= (n.510-109G=) c.600-109G= (n.600-109G=) c.*515-109G= (n.*515-109G=) c.*131-109G= (n.*131-109G=) c.264+1G= (n.264+1G=) c.534-109G= (n.534-109G=) c.471-109G= (n.471-109G=) c.540-109G= (n.540-109G=) | |
1 | g.6474696C>G | CA2642980219 | PLEKHG5 | c.303-109G>C (n.303-109G>C) c.477-109G>C (n.477-109G>C) c.414-109G>C (n.414-109G>C) n.670G>C c.510-109G>C (n.510-109G>C) c.600-109G>C (n.600-109G>C) c.*515-109G>C (n.*515-109G>C) c.*131-109G>C (n.*131-109G>C) c.264+1G>C (n.264+1G>C) c.534-109G>C (n.534-109G>C) c.471-109G>C (n.471-109G>C) c.540-109G>C (n.540-109G>C) | gnomAD v4 |
1 | g.6474696C>T | CA998179355 | PLEKHG5 | c.303-109G>A (n.303-109G>A) c.477-109G>A (n.477-109G>A) c.414-109G>A (n.414-109G>A) n.670G>A c.510-109G>A (n.510-109G>A) c.600-109G>A (n.600-109G>A) c.*515-109G>A (n.*515-109G>A) c.*131-109G>A (n.*131-109G>A) c.264+1G>A (n.264+1G>A) c.534-109G>A (n.534-109G>A) c.471-109G>A (n.471-109G>A) c.540-109G>A (n.540-109G>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.6474697del | CA2642980217 | PLEKHG5 | c.303-109del (n.303-109del) c.477-109del (n.477-109del) c.414-109del (n.414-109del) n.670del c.510-109del (n.510-109del) c.600-109del (n.600-109del) c.*515-109del (n.*515-109del) c.*131-109del (n.*131-109del) c.264+1del c.534-109del (n.534-109del) c.471-109del (n.471-109del) c.540-109del (n.540-109del) | gnomAD v4 |
1 | g.6474697C>A | CA2642980226 | PLEKHG5 | c.303-110G>T (n.303-110G>T) c.477-110G>T (n.477-110G>T) c.414-110G>T (n.414-110G>T) n.669G>T c.510-110G>T (n.510-110G>T) c.600-110G>T (n.600-110G>T) c.*515-110G>T (n.*515-110G>T) c.*131-110G>T (n.*131-110G>T) c.264G>T (n.264G>T) c.534-110G>T (n.534-110G>T) c.471-110G>T (n.471-110G>T) c.540-110G>T (n.540-110G>T) | gnomAD v4 |
1 | g.6474697C= | CA1151507445 | PLEKHG5 | c.303-110G= (n.303-110G=) c.477-110G= (n.477-110G=) c.414-110G= (n.414-110G=) n.669G= c.510-110G= (n.510-110G=) c.600-110G= (n.600-110G=) c.*515-110G= (n.*515-110G=) c.*131-110G= (n.*131-110G=) c.264G= (n.264G=) c.534-110G= (n.534-110G=) c.471-110G= (n.471-110G=) c.540-110G= (n.540-110G=) | |
1 | g.6474697C>T | CA737855031 | PLEKHG5 | c.303-110G>A (n.303-110G>A) c.477-110G>A (n.477-110G>A) c.414-110G>A (n.414-110G>A) n.669G>A c.510-110G>A (n.510-110G>A) c.600-110G>A (n.600-110G>A) c.*515-110G>A (n.*515-110G>A) c.*131-110G>A (n.*131-110G>A) c.264G>A (n.264G>A) c.534-110G>A (n.534-110G>A) c.471-110G>A (n.471-110G>A) c.540-110G>A (n.540-110G>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.6474698T>A | CA2642980238 | PLEKHG5 | c.303-111A>T (n.303-111A>T) c.477-111A>T (n.477-111A>T) c.414-111A>T (n.414-111A>T) n.668A>T c.510-111A>T (n.510-111A>T) c.600-111A>T (n.600-111A>T) c.*515-111A>T (n.*515-111A>T) c.*131-111A>T (n.*131-111A>T) c.263A>T (n.263A>T) c.534-111A>T (n.534-111A>T) c.471-111A>T (n.471-111A>T) c.540-111A>T (n.540-111A>T) | gnomAD v4 |
1 | g.6474698T>C | CA520766052 | PLEKHG5 | c.303-111A>G (n.303-111A>G) c.477-111A>G (n.477-111A>G) c.414-111A>G (n.414-111A>G) n.668A>G c.510-111A>G (n.510-111A>G) c.600-111A>G (n.600-111A>G) c.*515-111A>G (n.*515-111A>G) c.*131-111A>G (n.*131-111A>G) c.263A>G (n.263A>G) c.534-111A>G (n.534-111A>G) c.471-111A>G (n.471-111A>G) c.540-111A>G (n.540-111A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474698T>G | CA998179357 | PLEKHG5 | c.303-111A>C (n.303-111A>C) c.477-111A>C (n.477-111A>C) c.414-111A>C (n.414-111A>C) n.668A>C c.510-111A>C (n.510-111A>C) c.600-111A>C (n.600-111A>C) c.*515-111A>C (n.*515-111A>C) c.*131-111A>C (n.*131-111A>C) c.263A>C (n.263A>C) c.534-111A>C (n.534-111A>C) c.471-111A>C (n.471-111A>C) c.540-111A>C (n.540-111A>C) | gnomAD v3 gnomAD v4 |
1 | g.6474698T= | CA1151507465 | PLEKHG5 | c.303-111A= (n.303-111A=) c.477-111A= (n.477-111A=) c.414-111A= (n.414-111A=) n.668A= c.510-111A= (n.510-111A=) c.600-111A= (n.600-111A=) c.*515-111A= (n.*515-111A=) c.*131-111A= (n.*131-111A=) c.263A= (n.263A=) c.534-111A= (n.534-111A=) c.471-111A= (n.471-111A=) c.540-111A= (n.540-111A=) | |
1 | g.6474698_6474699del | CA2642980240 | PLEKHG5 | c.303-112_303-111del (n.303-112_303-111del) c.477-112_477-111del (n.477-112_477-111del) c.414-112_414-111del (n.414-112_414-111del) n.667_668del c.510-112_510-111del (n.510-112_510-111del) c.600-112_600-111del (n.600-112_600-111del) c.*515-112_*515-111del (n.*515-112_*515-111del) c.*131-112_*131-111del (n.*131-112_*131-111del) c.262_263del (n.262_263del) c.534-112_534-111del (n.534-112_534-111del) c.471-112_471-111del (n.471-112_471-111del) c.540-112_540-111del (n.540-112_540-111del) | gnomAD v4 |
1 | g.6474698_6474699insCCCCCCCCC | CA998179359 | PLEKHG5 | c.303-112_303-111insGGGGGGGGG (n.303-112_303-111insGGGGGGGGG) c.477-112_477-111insGGGGGGGGG (n.477-112_477-111insGGGGGGGGG) c.414-112_414-111insGGGGGGGGG (n.414-112_414-111insGGGGGGGGG) n.667_668insGGGGGGGGG c.510-112_510-111insGGGGGGGGG (n.510-112_510-111insGGGGGGGGG) c.600-112_600-111insGGGGGGGGG (n.600-112_600-111insGGGGGGGGG) c.*515-112_*515-111insGGGGGGGGG (n.*515-112_*515-111insGGGGGGGGG) c.*131-112_*131-111insGGGGGGGGG (n.*131-112_*131-111insGGGGGGGGG) c.262_263insGGGGGGGGG (n.262_263insGGGGGGGGG) c.534-112_534-111insGGGGGGGGG (n.534-112_534-111insGGGGGGGGG) c.471-112_471-111insGGGGGGGGG (n.471-112_471-111insGGGGGGGGG) c.540-112_540-111insGGGGGGGGG (n.540-112_540-111insGGGGGGGGG) | gnomAD v3 gnomAD v4 |
1 | g.6474699T>C | CA520766053 | PLEKHG5 | c.303-112A>G (n.303-112A>G) c.477-112A>G (n.477-112A>G) c.414-112A>G (n.414-112A>G) n.667A>G c.510-112A>G (n.510-112A>G) c.600-112A>G (n.600-112A>G) c.*515-112A>G (n.*515-112A>G) c.*131-112A>G (n.*131-112A>G) c.262A>G (n.262A>G) c.534-112A>G (n.534-112A>G) c.471-112A>G (n.471-112A>G) c.540-112A>G (n.540-112A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474699T>G | CA998179363 | PLEKHG5 | c.303-112A>C (n.303-112A>C) c.477-112A>C (n.477-112A>C) c.414-112A>C (n.414-112A>C) n.667A>C c.510-112A>C (n.510-112A>C) c.600-112A>C (n.600-112A>C) c.*515-112A>C (n.*515-112A>C) c.*131-112A>C (n.*131-112A>C) c.262A>C (n.262A>C) c.534-112A>C (n.534-112A>C) c.471-112A>C (n.471-112A>C) c.540-112A>C (n.540-112A>C) | gnomAD v3 gnomAD v4 |
1 | g.6474699T= | CA1151507467 | PLEKHG5 | c.303-112A= (n.303-112A=) c.477-112A= (n.477-112A=) c.414-112A= (n.414-112A=) n.667A= c.510-112A= (n.510-112A=) c.600-112A= (n.600-112A=) c.*515-112A= (n.*515-112A=) c.*131-112A= (n.*131-112A=) c.262A= (n.262A=) c.534-112A= (n.534-112A=) c.471-112A= (n.471-112A=) c.540-112A= (n.540-112A=) | |
1 | g.6474700C>A | CA2642980269 | PLEKHG5 | c.303-113G>T (n.303-113G>T) c.477-113G>T (n.477-113G>T) c.414-113G>T (n.414-113G>T) n.666G>T c.510-113G>T (n.510-113G>T) c.600-113G>T (n.600-113G>T) c.*515-113G>T (n.*515-113G>T) c.*131-113G>T (n.*131-113G>T) c.261G>T (n.261G>T) c.534-113G>T (n.534-113G>T) c.471-113G>T (n.471-113G>T) c.540-113G>T (n.540-113G>T) | gnomAD v4 |
1 | g.6474700_6474702del | CA998179381 | PLEKHG5 | c.303-115_303-113del (n.303-115_303-113del) c.477-115_477-113del (n.477-115_477-113del) c.414-115_414-113del (n.414-115_414-113del) n.664_666del c.510-115_510-113del (n.510-115_510-113del) c.600-115_600-113del (n.600-115_600-113del) c.*515-115_*515-113del (n.*515-115_*515-113del) c.*131-115_*131-113del (n.*131-115_*131-113del) c.259_261del (n.259_261del) c.534-115_534-113del (n.534-115_534-113del) c.471-115_471-113del (n.471-115_471-113del) c.540-115_540-113del (n.540-115_540-113del) | gnomAD v3 gnomAD v4 |
1 | g.6474702del | CA2642980268 | PLEKHG5 | c.303-113del (n.303-113del) c.477-113del (n.477-113del) c.414-113del (n.414-113del) n.666del c.510-113del (n.510-113del) c.600-113del (n.600-113del) c.*515-113del (n.*515-113del) c.*131-113del (n.*131-113del) c.261del (n.261del) c.534-113del (n.534-113del) c.471-113del (n.471-113del) c.540-113del (n.540-113del) | gnomAD v4 |
1 | g.6474702C>A | CA2642980272 | PLEKHG5 | c.303-115G>T (n.303-115G>T) c.477-115G>T (n.477-115G>T) c.414-115G>T (n.414-115G>T) n.664G>T c.510-115G>T (n.510-115G>T) c.600-115G>T (n.600-115G>T) c.*515-115G>T (n.*515-115G>T) c.*131-115G>T (n.*131-115G>T) c.259G>T (n.259G>T) c.534-115G>T (n.534-115G>T) c.471-115G>T (n.471-115G>T) c.540-115G>T (n.540-115G>T) | gnomAD v4 |
1 | g.6474702_6474703insTTTTTT | CA998179385 | PLEKHG5 | c.303-116_303-115insAAAAAA (n.303-116_303-115insAAAAAA) c.477-116_477-115insAAAAAA (n.477-116_477-115insAAAAAA) c.414-116_414-115insAAAAAA (n.414-116_414-115insAAAAAA) n.663_664insAAAAAA c.510-116_510-115insAAAAAA (n.510-116_510-115insAAAAAA) c.600-116_600-115insAAAAAA (n.600-116_600-115insAAAAAA) c.*515-116_*515-115insAAAAAA (n.*515-116_*515-115insAAAAAA) c.*131-116_*131-115insAAAAAA (n.*131-116_*131-115insAAAAAA) c.258_259insAAAAAA (n.258_259insAAAAAA) c.534-116_534-115insAAAAAA (n.534-116_534-115insAAAAAA) c.471-116_471-115insAAAAAA (n.471-116_471-115insAAAAAA) c.540-116_540-115insAAAAAA (n.540-116_540-115insAAAAAA) | gnomAD v3 gnomAD v4 |
1 | g.6474703A= | CA1151507485 | PLEKHG5 | c.303-116T= (n.303-116T=) c.477-116T= (n.477-116T=) c.414-116T= (n.414-116T=) n.663T= c.510-116T= (n.510-116T=) c.600-116T= (n.600-116T=) c.*515-116T= (n.*515-116T=) c.*131-116T= (n.*131-116T=) c.258T= (n.258T=) c.534-116T= (n.534-116T=) c.471-116T= (n.471-116T=) c.540-116T= (n.540-116T=) | |
1 | g.6474703A>C | CA737855040 | PLEKHG5 | c.303-116T>G (n.303-116T>G) c.477-116T>G (n.477-116T>G) c.414-116T>G (n.414-116T>G) n.663T>G c.510-116T>G (n.510-116T>G) c.600-116T>G (n.600-116T>G) c.*515-116T>G (n.*515-116T>G) c.*131-116T>G (n.*131-116T>G) c.258T>G (n.258T>G) c.534-116T>G (n.534-116T>G) c.471-116T>G (n.471-116T>G) c.540-116T>G (n.540-116T>G) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.6474703A>G | CA2742323577 | PLEKHG5 | c.303-116T>C (n.303-116T>C) c.477-116T>C (n.477-116T>C) c.414-116T>C (n.414-116T>C) n.663T>C c.510-116T>C (n.510-116T>C) c.600-116T>C (n.600-116T>C) c.*515-116T>C (n.*515-116T>C) c.*131-116T>C (n.*131-116T>C) c.258T>C (n.258T>C) c.534-116T>C (n.534-116T>C) c.471-116T>C (n.471-116T>C) c.540-116T>C (n.540-116T>C) | |
1 | g.6474703_6474704del | CA998179388 | PLEKHG5 | c.303-117_303-116del (n.303-117_303-116del) c.477-117_477-116del (n.477-117_477-116del) c.414-117_414-116del (n.414-117_414-116del) n.662_663del c.510-117_510-116del (n.510-117_510-116del) c.600-117_600-116del (n.600-117_600-116del) c.*515-117_*515-116del (n.*515-117_*515-116del) c.*131-117_*131-116del (n.*131-117_*131-116del) c.257_258del (n.257_258del) c.534-117_534-116del (n.534-117_534-116del) c.471-117_471-116del (n.471-117_471-116del) c.540-117_540-116del (n.540-117_540-116del) | gnomAD v3 gnomAD v4 |
1 | g.6474704A>C | CA998179391 | PLEKHG5 | c.303-117T>G (n.303-117T>G) c.477-117T>G (n.477-117T>G) c.414-117T>G (n.414-117T>G) n.662T>G c.510-117T>G (n.510-117T>G) c.600-117T>G (n.600-117T>G) c.*515-117T>G (n.*515-117T>G) c.*131-117T>G (n.*131-117T>G) c.257T>G (n.257T>G) c.534-117T>G (n.534-117T>G) c.471-117T>G (n.471-117T>G) c.540-117T>G (n.540-117T>G) | gnomAD v3 gnomAD v4 |
1 | g.6474705del | CA998179396 | PLEKHG5 | c.303-118del (n.303-118del) c.477-118del (n.477-118del) c.414-118del (n.414-118del) n.661del c.510-118del (n.510-118del) c.600-118del (n.600-118del) c.*515-118del (n.*515-118del) c.*131-118del (n.*131-118del) c.256del (n.256del) c.534-118del (n.534-118del) c.471-118del (n.471-118del) c.540-118del (n.540-118del) | gnomAD v3 gnomAD v4 |
1 | g.6474705C>A | CA17243983 | PLEKHG5 | c.303-118G>T (n.303-118G>T) c.477-118G>T (n.477-118G>T) c.414-118G>T (n.414-118G>T) n.661G>T c.510-118G>T (n.510-118G>T) c.600-118G>T (n.600-118G>T) c.*515-118G>T (n.*515-118G>T) c.*131-118G>T (n.*131-118G>T) c.256G>T (n.256G>T) c.534-118G>T (n.534-118G>T) c.471-118G>T (n.471-118G>T) c.540-118G>T (n.540-118G>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.6474705C= | CA1151507492 | PLEKHG5 | c.303-118G= (n.303-118G=) c.477-118G= (n.477-118G=) c.414-118G= (n.414-118G=) n.661G= c.510-118G= (n.510-118G=) c.600-118G= (n.600-118G=) c.*515-118G= (n.*515-118G=) c.*131-118G= (n.*131-118G=) c.256G= (n.256G=) c.534-118G= (n.534-118G=) c.471-118G= (n.471-118G=) c.540-118G= (n.540-118G=) | |
1 | g.6474705C>G | CA737855051 | PLEKHG5 | c.303-118G>C (n.303-118G>C) c.477-118G>C (n.477-118G>C) c.414-118G>C (n.414-118G>C) n.661G>C c.510-118G>C (n.510-118G>C) c.600-118G>C (n.600-118G>C) c.*515-118G>C (n.*515-118G>C) c.*131-118G>C (n.*131-118G>C) c.256G>C (n.256G>C) c.534-118G>C (n.534-118G>C) c.471-118G>C (n.471-118G>C) c.540-118G>C (n.540-118G>C) | dbSNP gnomAD v4 |
1 | g.6474705C>T | CA520766054 | PLEKHG5 | c.303-118G>A (n.303-118G>A) c.477-118G>A (n.477-118G>A) c.414-118G>A (n.414-118G>A) n.661G>A c.510-118G>A (n.510-118G>A) c.600-118G>A (n.600-118G>A) c.*515-118G>A (n.*515-118G>A) c.*131-118G>A (n.*131-118G>A) c.256G>A (n.256G>A) c.534-118G>A (n.534-118G>A) c.471-118G>A (n.471-118G>A) c.540-118G>A (n.540-118G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474706G>A | CA520766055 | PLEKHG5 | c.303-119C>T (n.303-119C>T) c.477-119C>T (n.477-119C>T) c.414-119C>T (n.414-119C>T) n.660C>T c.510-119C>T (n.510-119C>T) c.600-119C>T (n.600-119C>T) c.*515-119C>T (n.*515-119C>T) c.*131-119C>T (n.*131-119C>T) c.255C>T (n.255C>T) c.534-119C>T (n.534-119C>T) c.471-119C>T (n.471-119C>T) c.540-119C>T (n.540-119C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474706G= | CA1151507494 | PLEKHG5 | c.303-119C= (n.303-119C=) c.477-119C= (n.477-119C=) c.414-119C= (n.414-119C=) n.660C= c.510-119C= (n.510-119C=) c.600-119C= (n.600-119C=) c.*515-119C= (n.*515-119C=) c.*131-119C= (n.*131-119C=) c.255C= (n.255C=) c.534-119C= (n.534-119C=) c.471-119C= (n.471-119C=) c.540-119C= (n.540-119C=) | |
1 | g.6474706G>T | CA998179402 | PLEKHG5 | c.303-119C>A (n.303-119C>A) c.477-119C>A (n.477-119C>A) c.414-119C>A (n.414-119C>A) n.660C>A c.510-119C>A (n.510-119C>A) c.600-119C>A (n.600-119C>A) c.*515-119C>A (n.*515-119C>A) c.*131-119C>A (n.*131-119C>A) c.255C>A (n.255C>A) c.534-119C>A (n.534-119C>A) c.471-119C>A (n.471-119C>A) c.540-119C>A (n.540-119C>A) | gnomAD v3 gnomAD v4 |
1 | g.6474707G>A | CA2509496595 | PLEKHG5 | c.303-120C>T (n.303-120C>T) c.477-120C>T (n.477-120C>T) c.414-120C>T (n.414-120C>T) n.659C>T c.510-120C>T (n.510-120C>T) c.600-120C>T (n.600-120C>T) c.*515-120C>T (n.*515-120C>T) c.*131-120C>T (n.*131-120C>T) c.254C>T (n.254C>T) c.534-120C>T (n.534-120C>T) c.471-120C>T (n.471-120C>T) c.540-120C>T (n.540-120C>T) | |
1 | g.6474707_6474708delinsGA | CA1151507500 | PLEKHG5 | c.303-121_303-120delinsTC (n.303-121_303-120delinsTC) c.477-121_477-120delinsTC (n.477-121_477-120delinsTC) c.414-121_414-120delinsTC (n.414-121_414-120delinsTC) n.658_659delinsTC c.510-121_510-120delinsTC (n.510-121_510-120delinsTC) c.600-121_600-120delinsTC (n.600-121_600-120delinsTC) c.*515-121_*515-120delinsTC (n.*515-121_*515-120delinsTC) c.*131-121_*131-120delinsTC (n.*131-121_*131-120delinsTC) c.253_254delinsTC (n.253_254delinsTC) c.534-121_534-120delinsTC (n.534-121_534-120delinsTC) c.471-121_471-120delinsTC (n.471-121_471-120delinsTC) c.540-121_540-120delinsTC (n.540-121_540-120delinsTC) | |
1 | g.6474711del | CA1151507503 | PLEKHG5 | c.303-121del (n.303-121del) c.477-121del (n.477-121del) c.414-121del (n.414-121del) n.658del c.510-121del (n.510-121del) c.600-121del (n.600-121del) c.*515-121del (n.*515-121del) c.*131-121del (n.*131-121del) c.253del (n.253del) c.534-121del (n.534-121del) c.471-121del (n.471-121del) c.540-121del (n.540-121del) | dbSNP gnomAD v4 |
1 | g.6474709A>T | CA998179403 | PLEKHG5 | c.303-122T>A (n.303-122T>A) c.477-122T>A (n.477-122T>A) c.414-122T>A (n.414-122T>A) n.657T>A c.510-122T>A (n.510-122T>A) c.600-122T>A (n.600-122T>A) c.*515-122T>A (n.*515-122T>A) c.*131-122T>A (n.*131-122T>A) c.252T>A (n.252T>A) c.534-122T>A (n.534-122T>A) c.471-122T>A (n.471-122T>A) c.540-122T>A (n.540-122T>A) | gnomAD v3 gnomAD v4 |
1 | g.6474711A>C | CA998179405 | PLEKHG5 | c.303-124T>G (n.303-124T>G) c.477-124T>G (n.477-124T>G) c.414-124T>G (n.414-124T>G) n.655T>G c.510-124T>G (n.510-124T>G) c.600-124T>G (n.600-124T>G) c.*515-124T>G (n.*515-124T>G) c.*131-124T>G (n.*131-124T>G) c.250T>G (n.250T>G) c.534-124T>G (n.534-124T>G) c.471-124T>G (n.471-124T>G) c.540-124T>G (n.540-124T>G) | gnomAD v3 gnomAD v4 |
1 | g.6474711A>G | CA2642980296 | PLEKHG5 | c.303-124T>C (n.303-124T>C) c.477-124T>C (n.477-124T>C) c.414-124T>C (n.414-124T>C) n.655T>C c.510-124T>C (n.510-124T>C) c.600-124T>C (n.600-124T>C) c.*515-124T>C (n.*515-124T>C) c.*131-124T>C (n.*131-124T>C) c.250T>C (n.250T>C) c.534-124T>C (n.534-124T>C) c.471-124T>C (n.471-124T>C) c.540-124T>C (n.540-124T>C) | gnomAD v4 |
1 | g.6474712G>A | CA2642980298 | PLEKHG5 | c.303-125C>T (n.303-125C>T) c.477-125C>T (n.477-125C>T) c.414-125C>T (n.414-125C>T) n.654C>T c.510-125C>T (n.510-125C>T) c.600-125C>T (n.600-125C>T) c.*515-125C>T (n.*515-125C>T) c.*131-125C>T (n.*131-125C>T) c.249C>T (n.249C>T) c.534-125C>T (n.534-125C>T) c.471-125C>T (n.471-125C>T) c.540-125C>T (n.540-125C>T) | gnomAD v4 |
1 | g.6474712G= | CA1151507505 | PLEKHG5 | c.303-125C= (n.303-125C=) c.477-125C= (n.477-125C=) c.414-125C= (n.414-125C=) n.654C= c.510-125C= (n.510-125C=) c.600-125C= (n.600-125C=) c.*515-125C= (n.*515-125C=) c.*131-125C= (n.*131-125C=) c.249C= (n.249C=) c.534-125C= (n.534-125C=) c.471-125C= (n.471-125C=) c.540-125C= (n.540-125C=) | |
1 | g.6474712G>T | CA1151507507 | PLEKHG5 | c.303-125C>A (n.303-125C>A) c.477-125C>A (n.477-125C>A) c.414-125C>A (n.414-125C>A) n.654C>A c.510-125C>A (n.510-125C>A) c.600-125C>A (n.600-125C>A) c.*515-125C>A (n.*515-125C>A) c.*131-125C>A (n.*131-125C>A) c.249C>A (n.249C>A) c.534-125C>A (n.534-125C>A) c.471-125C>A (n.471-125C>A) c.540-125C>A (n.540-125C>A) | dbSNP gnomAD v4 |
1 | g.6474713G>A | CA2642980303 | PLEKHG5 | c.303-126C>T (n.303-126C>T) c.477-126C>T (n.477-126C>T) c.414-126C>T (n.414-126C>T) n.653C>T c.510-126C>T (n.510-126C>T) c.600-126C>T (n.600-126C>T) c.*515-126C>T (n.*515-126C>T) c.*131-126C>T (n.*131-126C>T) c.248C>T (n.248C>T) c.534-126C>T (n.534-126C>T) c.471-126C>T (n.471-126C>T) c.540-126C>T (n.540-126C>T) | gnomAD v4 |
1 | g.6474713G>C | CA2530691884 | PLEKHG5 | c.303-126C>G (n.303-126C>G) c.477-126C>G (n.477-126C>G) c.414-126C>G (n.414-126C>G) n.653C>G c.510-126C>G (n.510-126C>G) c.600-126C>G (n.600-126C>G) c.*515-126C>G (n.*515-126C>G) c.*131-126C>G (n.*131-126C>G) c.248C>G (n.248C>G) c.534-126C>G (n.534-126C>G) c.471-126C>G (n.471-126C>G) c.540-126C>G (n.540-126C>G) | gnomAD v4 |
1 | g.6474713_6474714insC | CA998179408 | PLEKHG5 | c.303-127_303-126insG (n.303-127_303-126insG) c.477-127_477-126insG (n.477-127_477-126insG) c.414-127_414-126insG (n.414-127_414-126insG) n.652_653insG c.510-127_510-126insG (n.510-127_510-126insG) c.600-127_600-126insG (n.600-127_600-126insG) c.*515-127_*515-126insG (n.*515-127_*515-126insG) c.*131-127_*131-126insG (n.*131-127_*131-126insG) c.247_248insG (n.247_248insG) c.534-127_534-126insG (n.534-127_534-126insG) c.471-127_471-126insG (n.471-127_471-126insG) c.540-127_540-126insG (n.540-127_540-126insG) | gnomAD v3 gnomAD v4 |
1 | g.6474715A= | CA1151507509 | PLEKHG5 | c.303-128T= (n.303-128T=) c.477-128T= (n.477-128T=) c.414-128T= (n.414-128T=) n.651T= c.510-128T= (n.510-128T=) c.600-128T= (n.600-128T=) c.*515-128T= (n.*515-128T=) c.*131-128T= (n.*131-128T=) c.246T= (n.246T=) c.534-128T= (n.534-128T=) c.471-128T= (n.471-128T=) c.540-128T= (n.540-128T=) | |
1 | g.6474715A>G | CA2642980308 | PLEKHG5 | c.303-128T>C (n.303-128T>C) c.477-128T>C (n.477-128T>C) c.414-128T>C (n.414-128T>C) n.651T>C c.510-128T>C (n.510-128T>C) c.600-128T>C (n.600-128T>C) c.*515-128T>C (n.*515-128T>C) c.*131-128T>C (n.*131-128T>C) c.246T>C (n.246T>C) c.534-128T>C (n.534-128T>C) c.471-128T>C (n.471-128T>C) c.540-128T>C (n.540-128T>C) | gnomAD v4 |
1 | g.6474715A>T | CA17243985 | PLEKHG5 | c.303-128T>A (n.303-128T>A) c.477-128T>A (n.477-128T>A) c.414-128T>A (n.414-128T>A) n.651T>A c.510-128T>A (n.510-128T>A) c.600-128T>A (n.600-128T>A) c.*515-128T>A (n.*515-128T>A) c.*131-128T>A (n.*131-128T>A) c.246T>A (n.246T>A) c.534-128T>A (n.534-128T>A) c.471-128T>A (n.471-128T>A) c.540-128T>A (n.540-128T>A) | dbSNP gnomAD v4 |
1 | g.6474716_6474717del | CA998179409 | PLEKHG5 | c.303-130_303-129del (n.303-130_303-129del) c.477-130_477-129del (n.477-130_477-129del) c.414-130_414-129del (n.414-130_414-129del) n.649_650del c.510-130_510-129del (n.510-130_510-129del) c.600-130_600-129del (n.600-130_600-129del) c.*515-130_*515-129del (n.*515-130_*515-129del) c.*131-130_*131-129del (n.*131-130_*131-129del) c.244_245del (n.244_245del) c.534-130_534-129del (n.534-130_534-129del) c.471-130_471-129del (n.471-130_471-129del) c.540-130_540-129del (n.540-130_540-129del) | gnomAD v3 gnomAD v4 |
1 | g.6474717G>T | CA2642980316 | PLEKHG5 | c.303-130C>A (n.303-130C>A) c.477-130C>A (n.477-130C>A) c.414-130C>A (n.414-130C>A) n.649C>A c.510-130C>A (n.510-130C>A) c.600-130C>A (n.600-130C>A) c.*515-130C>A (n.*515-130C>A) c.*131-130C>A (n.*131-130C>A) c.244C>A (n.244C>A) c.534-130C>A (n.534-130C>A) c.471-130C>A (n.471-130C>A) c.540-130C>A (n.540-130C>A) | gnomAD v4 |
1 | g.6474718C>A | CA415834191 | PLEKHG5 | c.303-131G>T (n.303-131G>T) c.477-131G>T (n.477-131G>T) c.414-131G>T (n.414-131G>T) n.648G>T c.510-131G>T (n.510-131G>T) c.600-131G>T (n.600-131G>T) c.*515-131G>T (n.*515-131G>T) c.*131-131G>T (n.*131-131G>T) c.243G>T (n.243G>T) c.534-131G>T (n.534-131G>T) c.471-131G>T (n.471-131G>T) c.540-131G>T (n.540-131G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474718C= | CA1151507514 | PLEKHG5 | c.303-131G= (n.303-131G=) c.477-131G= (n.477-131G=) c.414-131G= (n.414-131G=) n.648G= c.510-131G= (n.510-131G=) c.600-131G= (n.600-131G=) c.*515-131G= (n.*515-131G=) c.*131-131G= (n.*131-131G=) c.243G= (n.243G=) c.534-131G= (n.534-131G=) c.471-131G= (n.471-131G=) c.540-131G= (n.540-131G=) | |
1 | g.6474718C>T | CA2642980320 | PLEKHG5 | c.303-131G>A (n.303-131G>A) c.477-131G>A (n.477-131G>A) c.414-131G>A (n.414-131G>A) n.648G>A c.510-131G>A (n.510-131G>A) c.600-131G>A (n.600-131G>A) c.*515-131G>A (n.*515-131G>A) c.*131-131G>A (n.*131-131G>A) c.243G>A (n.243G>A) c.534-131G>A (n.534-131G>A) c.471-131G>A (n.471-131G>A) c.540-131G>A (n.540-131G>A) | gnomAD v4 |
1 | g.6474719C= | CA1151507518 | PLEKHG5 | c.303-132G= (n.303-132G=) c.477-132G= (n.477-132G=) c.414-132G= (n.414-132G=) n.647G= c.510-132G= (n.510-132G=) c.600-132G= (n.600-132G=) c.*515-132G= (n.*515-132G=) c.*131-132G= (n.*131-132G=) c.242G= (n.242G=) c.534-132G= (n.534-132G=) c.471-132G= (n.471-132G=) c.540-132G= (n.540-132G=) | |
1 | g.6474719C>T | CA1151507523 | PLEKHG5 | c.303-132G>A (n.303-132G>A) c.477-132G>A (n.477-132G>A) c.414-132G>A (n.414-132G>A) n.647G>A c.510-132G>A (n.510-132G>A) c.600-132G>A (n.600-132G>A) c.*515-132G>A (n.*515-132G>A) c.*131-132G>A (n.*131-132G>A) c.242G>A (n.242G>A) c.534-132G>A (n.534-132G>A) c.471-132G>A (n.471-132G>A) c.540-132G>A (n.540-132G>A) | dbSNP |
1 | g.6474719_6474720insAC | CA998179416 | PLEKHG5 | c.303-132_303-131insTG (n.303-132_303-131insTG) c.477-132_477-131insTG (n.477-132_477-131insTG) c.414-132_414-131insTG (n.414-132_414-131insTG) n.647_648insTG c.510-132_510-131insTG (n.510-132_510-131insTG) c.600-132_600-131insTG (n.600-132_600-131insTG) c.*515-132_*515-131insTG (n.*515-132_*515-131insTG) c.*131-132_*131-131insTG (n.*131-132_*131-131insTG) c.242_243insTG (n.242_243insTG) c.534-132_534-131insTG (n.534-132_534-131insTG) c.471-132_471-131insTG (n.471-132_471-131insTG) c.540-132_540-131insTG (n.540-132_540-131insTG) | gnomAD v3 gnomAD v4 |
1 | g.6474720C>A | CA2642980324 | PLEKHG5 | c.303-133G>T (n.303-133G>T) c.477-133G>T (n.477-133G>T) c.414-133G>T (n.414-133G>T) n.646G>T c.510-133G>T (n.510-133G>T) c.600-133G>T (n.600-133G>T) c.*515-133G>T (n.*515-133G>T) c.*131-133G>T (n.*131-133G>T) c.241G>T (n.241G>T) c.534-133G>T (n.534-133G>T) c.471-133G>T (n.471-133G>T) c.540-133G>T (n.540-133G>T) | gnomAD v4 |
1 | g.6474720C= | CA1151507524 | PLEKHG5 | c.303-133G= (n.303-133G=) c.477-133G= (n.477-133G=) c.414-133G= (n.414-133G=) n.646G= c.510-133G= (n.510-133G=) c.600-133G= (n.600-133G=) c.*515-133G= (n.*515-133G=) c.*131-133G= (n.*131-133G=) c.241G= (n.241G=) c.534-133G= (n.534-133G=) c.471-133G= (n.471-133G=) c.540-133G= (n.540-133G=) | |
1 | g.6474720C>G | CA2642980327 | PLEKHG5 | c.303-133G>C (n.303-133G>C) c.477-133G>C (n.477-133G>C) c.414-133G>C (n.414-133G>C) n.646G>C c.510-133G>C (n.510-133G>C) c.600-133G>C (n.600-133G>C) c.*515-133G>C (n.*515-133G>C) c.*131-133G>C (n.*131-133G>C) c.241G>C (n.241G>C) c.534-133G>C (n.534-133G>C) c.471-133G>C (n.471-133G>C) c.540-133G>C (n.540-133G>C) | gnomAD v4 |
1 | g.6474720C>T | CA17243987 | PLEKHG5 | c.303-133G>A (n.303-133G>A) c.477-133G>A (n.477-133G>A) c.414-133G>A (n.414-133G>A) n.646G>A c.510-133G>A (n.510-133G>A) c.600-133G>A (n.600-133G>A) c.*515-133G>A (n.*515-133G>A) c.*131-133G>A (n.*131-133G>A) c.241G>A (n.241G>A) c.534-133G>A (n.534-133G>A) c.471-133G>A (n.471-133G>A) c.540-133G>A (n.540-133G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474721G>A | CA10798741 | PLEKHG5 | c.303-134C>T (n.303-134C>T) c.477-134C>T (n.477-134C>T) c.414-134C>T (n.414-134C>T) n.645C>T c.510-134C>T (n.510-134C>T) c.600-134C>T (n.600-134C>T) c.*515-134C>T (n.*515-134C>T) c.*131-134C>T (n.*131-134C>T) c.240C>T (n.240C>T) c.534-134C>T (n.534-134C>T) c.471-134C>T (n.471-134C>T) c.540-134C>T (n.540-134C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474721G>C | CA2581640238 | PLEKHG5 | c.303-134C>G (n.303-134C>G) c.477-134C>G (n.477-134C>G) c.414-134C>G (n.414-134C>G) n.645C>G c.510-134C>G (n.510-134C>G) c.600-134C>G (n.600-134C>G) c.*515-134C>G (n.*515-134C>G) c.*131-134C>G (n.*131-134C>G) c.240C>G (n.240C>G) c.534-134C>G (n.534-134C>G) c.471-134C>G (n.471-134C>G) c.540-134C>G (n.540-134C>G) | |
1 | g.6474721G= | CA1139974800 | PLEKHG5 | c.303-134C= (n.303-134C=) c.477-134C= (n.477-134C=) c.414-134C= (n.414-134C=) n.645C= c.510-134C= (n.510-134C=) c.600-134C= (n.600-134C=) c.*515-134C= (n.*515-134C=) c.*131-134C= (n.*131-134C=) c.240C= (n.240C=) c.534-134C= (n.534-134C=) c.471-134C= (n.471-134C=) c.540-134C= (n.540-134C=) | |
1 | g.6474721G>T | CA737855061 | PLEKHG5 | c.303-134C>A (n.303-134C>A) c.477-134C>A (n.477-134C>A) c.414-134C>A (n.414-134C>A) n.645C>A c.510-134C>A (n.510-134C>A) c.600-134C>A (n.600-134C>A) c.*515-134C>A (n.*515-134C>A) c.*131-134C>A (n.*131-134C>A) c.240C>A (n.240C>A) c.534-134C>A (n.534-134C>A) c.471-134C>A (n.471-134C>A) c.540-134C>A (n.540-134C>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.6474722C>A | CA2642980346 | PLEKHG5 | c.303-135G>T (n.303-135G>T) c.477-135G>T (n.477-135G>T) c.414-135G>T (n.414-135G>T) n.644G>T c.510-135G>T (n.510-135G>T) c.600-135G>T (n.600-135G>T) c.*515-135G>T (n.*515-135G>T) c.*131-135G>T (n.*131-135G>T) c.239G>T (n.239G>T) c.534-135G>T (n.534-135G>T) c.471-135G>T (n.471-135G>T) c.540-135G>T (n.540-135G>T) | gnomAD v4 |
1 | g.6474722C>G | CA2642980343 | PLEKHG5 | c.303-135G>C (n.303-135G>C) c.477-135G>C (n.477-135G>C) c.414-135G>C (n.414-135G>C) n.644G>C c.510-135G>C (n.510-135G>C) c.600-135G>C (n.600-135G>C) c.*515-135G>C (n.*515-135G>C) c.*131-135G>C (n.*131-135G>C) c.239G>C (n.239G>C) c.534-135G>C (n.534-135G>C) c.471-135G>C (n.471-135G>C) c.540-135G>C (n.540-135G>C) | gnomAD v4 |
1 | g.6474723A= | CA1146243610 | PLEKHG5 | c.303-136T= (n.303-136T=) c.477-136T= (n.477-136T=) c.414-136T= (n.414-136T=) n.643T= c.510-136T= (n.510-136T=) c.600-136T= (n.600-136T=) c.*515-136T= (n.*515-136T=) c.*131-136T= (n.*131-136T=) c.238T= (n.238T=) c.534-136T= (n.534-136T=) c.471-136T= (n.471-136T=) c.540-136T= (n.540-136T=) | |
1 | g.6474723A>C | CA737855063 | PLEKHG5 | c.303-136T>G (n.303-136T>G) c.477-136T>G (n.477-136T>G) c.414-136T>G (n.414-136T>G) n.643T>G c.510-136T>G (n.510-136T>G) c.600-136T>G (n.600-136T>G) c.*515-136T>G (n.*515-136T>G) c.*131-136T>G (n.*131-136T>G) c.238T>G (n.238T>G) c.534-136T>G (n.534-136T>G) c.471-136T>G (n.471-136T>G) c.540-136T>G (n.540-136T>G) | dbSNP gnomAD v4 |
1 | g.6474723A>G | CA17243998 | PLEKHG5 | c.303-136T>C (n.303-136T>C) c.477-136T>C (n.477-136T>C) c.414-136T>C (n.414-136T>C) n.643T>C c.510-136T>C (n.510-136T>C) c.600-136T>C (n.600-136T>C) c.*515-136T>C (n.*515-136T>C) c.*131-136T>C (n.*131-136T>C) c.238T>C (n.238T>C) c.534-136T>C (n.534-136T>C) c.471-136T>C (n.471-136T>C) c.540-136T>C (n.540-136T>C) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.6474724T>C | CA737855069 | PLEKHG5 | c.303-137A>G (n.303-137A>G) c.477-137A>G (n.477-137A>G) c.414-137A>G (n.414-137A>G) n.642A>G c.510-137A>G (n.510-137A>G) c.600-137A>G (n.600-137A>G) c.*515-137A>G (n.*515-137A>G) c.*131-137A>G (n.*131-137A>G) c.237A>G (n.237A>G) c.534-137A>G (n.534-137A>G) c.471-137A>G (n.471-137A>G) c.540-137A>G (n.540-137A>G) | dbSNP |
1 | g.6474724T= | CA1151507536 | PLEKHG5 | c.303-137A= (n.303-137A=) c.477-137A= (n.477-137A=) c.414-137A= (n.414-137A=) n.642A= c.510-137A= (n.510-137A=) c.600-137A= (n.600-137A=) c.*515-137A= (n.*515-137A=) c.*131-137A= (n.*131-137A=) c.237A= (n.237A=) c.534-137A= (n.534-137A=) c.471-137A= (n.471-137A=) c.540-137A= (n.540-137A=) | |
1 | g.6474724_6474726del | CA998179424 | PLEKHG5 | c.303-139_303-137del (n.303-139_303-137del) c.477-139_477-137del (n.477-139_477-137del) c.414-139_414-137del (n.414-139_414-137del) n.640_642del c.510-139_510-137del (n.510-139_510-137del) c.600-139_600-137del (n.600-139_600-137del) c.*515-139_*515-137del (n.*515-139_*515-137del) c.*131-139_*131-137del (n.*131-139_*131-137del) c.235_237del (n.235_237del) c.534-139_534-137del (n.534-139_534-137del) c.471-139_471-137del (n.471-139_471-137del) c.540-139_540-137del (n.540-139_540-137del) | gnomAD v3 gnomAD v4 |
1 | g.6474725G>A | CA737855073 | PLEKHG5 | c.303-138C>T (n.303-138C>T) c.477-138C>T (n.477-138C>T) c.414-138C>T (n.414-138C>T) n.641C>T c.510-138C>T (n.510-138C>T) c.600-138C>T (n.600-138C>T) c.*515-138C>T (n.*515-138C>T) c.*131-138C>T (n.*131-138C>T) c.236C>T (n.236C>T) c.534-138C>T (n.534-138C>T) c.471-138C>T (n.471-138C>T) c.540-138C>T (n.540-138C>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.6474725G= | CA1151507542 | PLEKHG5 | c.303-138C= (n.303-138C=) c.477-138C= (n.477-138C=) c.414-138C= (n.414-138C=) n.641C= c.510-138C= (n.510-138C=) c.600-138C= (n.600-138C=) c.*515-138C= (n.*515-138C=) c.*131-138C= (n.*131-138C=) c.236C= (n.236C=) c.534-138C= (n.534-138C=) c.471-138C= (n.471-138C=) c.540-138C= (n.540-138C=) | |
1 | g.6474725G>T | CA737855072 | PLEKHG5 | c.303-138C>A (n.303-138C>A) c.477-138C>A (n.477-138C>A) c.414-138C>A (n.414-138C>A) n.641C>A c.510-138C>A (n.510-138C>A) c.600-138C>A (n.600-138C>A) c.*515-138C>A (n.*515-138C>A) c.*131-138C>A (n.*131-138C>A) c.236C>A (n.236C>A) c.534-138C>A (n.534-138C>A) c.471-138C>A (n.471-138C>A) c.540-138C>A (n.540-138C>A) | dbSNP gnomAD v4 |
1 | g.6474727del | CA2642980360 | PLEKHG5 | c.303-138del (n.303-138del) c.477-138del (n.477-138del) c.414-138del (n.414-138del) n.641del c.510-138del (n.510-138del) c.600-138del (n.600-138del) c.*515-138del (n.*515-138del) c.*131-138del (n.*131-138del) c.236del (n.236del) c.534-138del (n.534-138del) c.471-138del (n.471-138del) c.540-138del (n.540-138del) | gnomAD v4 |
1 | g.6474727G>T | CA2642980367 | PLEKHG5 | c.303-140C>A (n.303-140C>A) c.477-140C>A (n.477-140C>A) c.414-140C>A (n.414-140C>A) n.639C>A c.510-140C>A (n.510-140C>A) c.600-140C>A (n.600-140C>A) c.*515-140C>A (n.*515-140C>A) c.*131-140C>A (n.*131-140C>A) c.234C>A (n.234C>A) c.534-140C>A (n.534-140C>A) c.471-140C>A (n.471-140C>A) c.540-140C>A (n.540-140C>A) | gnomAD v4 |
1 | g.6474728A>G | CA2742323578 | PLEKHG5 | c.303-141T>C (n.303-141T>C) c.477-141T>C (n.477-141T>C) c.414-141T>C (n.414-141T>C) n.638T>C c.510-141T>C (n.510-141T>C) c.600-141T>C (n.600-141T>C) c.*515-141T>C (n.*515-141T>C) c.*131-141T>C (n.*131-141T>C) c.233T>C (n.233T>C) c.534-141T>C (n.534-141T>C) c.471-141T>C (n.471-141T>C) c.540-141T>C (n.540-141T>C) | |
1 | g.6474728A>T | CA2642980370 | PLEKHG5 | c.303-141T>A (n.303-141T>A) c.477-141T>A (n.477-141T>A) c.414-141T>A (n.414-141T>A) n.638T>A c.510-141T>A (n.510-141T>A) c.600-141T>A (n.600-141T>A) c.*515-141T>A (n.*515-141T>A) c.*131-141T>A (n.*131-141T>A) c.233T>A (n.233T>A) c.534-141T>A (n.534-141T>A) c.471-141T>A (n.471-141T>A) c.540-141T>A (n.540-141T>A) | gnomAD v4 |
1 | g.6474729T= | CA1151507550 | PLEKHG5 | c.303-142A= (n.303-142A=) c.477-142A= (n.477-142A=) c.414-142A= (n.414-142A=) n.637A= c.510-142A= (n.510-142A=) c.600-142A= (n.600-142A=) c.*515-142A= (n.*515-142A=) c.*131-142A= (n.*131-142A=) c.232A= (n.232A=) c.534-142A= (n.534-142A=) c.471-142A= (n.471-142A=) c.540-142A= (n.540-142A=) | |
1 | g.6474730C>A | CA2642980373 | PLEKHG5 | c.303-143G>T (n.303-143G>T) c.477-143G>T (n.477-143G>T) c.414-143G>T (n.414-143G>T) n.636G>T c.510-143G>T (n.510-143G>T) c.600-143G>T (n.600-143G>T) c.*515-143G>T (n.*515-143G>T) c.*131-143G>T (n.*131-143G>T) c.231G>T (n.231G>T) c.534-143G>T (n.534-143G>T) c.471-143G>T (n.471-143G>T) c.540-143G>T (n.540-143G>T) | gnomAD v4 |
1 | g.6474733_6474734dup | CA1151507552 | PLEKHG5 | c.303-144_303-143dup (n.303-144_303-143dup) c.477-144_477-143dup (n.477-144_477-143dup) c.414-144_414-143dup (n.414-144_414-143dup) n.635_636dup c.510-144_510-143dup (n.510-144_510-143dup) c.600-144_600-143dup (n.600-144_600-143dup) c.*515-144_*515-143dup (n.*515-144_*515-143dup) c.*131-144_*131-143dup (n.*131-144_*131-143dup) c.230_231dup (n.230_231dup) c.534-144_534-143dup (n.534-144_534-143dup) c.471-144_471-143dup (n.471-144_471-143dup) c.540-144_540-143dup (n.540-144_540-143dup) | dbSNP |
1 | g.6474730_6474731insT | CA998179431 | PLEKHG5 | c.303-144_303-143insA (n.303-144_303-143insA) c.477-144_477-143insA (n.477-144_477-143insA) c.414-144_414-143insA (n.414-144_414-143insA) n.635_636insA c.510-144_510-143insA (n.510-144_510-143insA) c.600-144_600-143insA (n.600-144_600-143insA) c.*515-144_*515-143insA (n.*515-144_*515-143insA) c.*131-144_*131-143insA (n.*131-144_*131-143insA) c.230_231insA (n.230_231insA) c.534-144_534-143insA (n.534-144_534-143insA) c.471-144_471-143insA (n.471-144_471-143insA) c.540-144_540-143insA (n.540-144_540-143insA) | gnomAD v3 gnomAD v4 |
1 | g.6474732C= | CA1151507553 | PLEKHG5 | c.303-145G= (n.303-145G=) c.477-145G= (n.477-145G=) c.414-145G= (n.414-145G=) n.634G= c.510-145G= (n.510-145G=) c.600-145G= (n.600-145G=) c.*515-145G= (n.*515-145G=) c.*131-145G= (n.*131-145G=) c.229G= (n.229G=) c.534-145G= (n.534-145G=) c.471-145G= (n.471-145G=) c.540-145G= (n.540-145G=) | |
1 | g.6474732C>T | CA17244003 | PLEKHG5 | c.303-145G>A (n.303-145G>A) c.477-145G>A (n.477-145G>A) c.414-145G>A (n.414-145G>A) n.634G>A c.510-145G>A (n.510-145G>A) c.600-145G>A (n.600-145G>A) c.*515-145G>A (n.*515-145G>A) c.*131-145G>A (n.*131-145G>A) c.229G>A (n.229G>A) c.534-145G>A (n.534-145G>A) c.471-145G>A (n.471-145G>A) c.540-145G>A (n.540-145G>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.6474733A>C | CA2642980384 | PLEKHG5 | c.303-146T>G (n.303-146T>G) c.477-146T>G (n.477-146T>G) c.414-146T>G (n.414-146T>G) n.633T>G c.510-146T>G (n.510-146T>G) c.600-146T>G (n.600-146T>G) c.*515-146T>G (n.*515-146T>G) c.*131-146T>G (n.*131-146T>G) c.228T>G (n.228T>G) c.534-146T>G (n.534-146T>G) c.471-146T>G (n.471-146T>G) c.540-146T>G (n.540-146T>G) | gnomAD v4 |
1 | g.6474734C>A | CA2642980390 | PLEKHG5 | c.303-147G>T (n.303-147G>T) c.477-147G>T (n.477-147G>T) c.414-147G>T (n.414-147G>T) n.632G>T c.510-147G>T (n.510-147G>T) c.600-147G>T (n.600-147G>T) c.*515-147G>T (n.*515-147G>T) c.*131-147G>T (n.*131-147G>T) c.227G>T (n.227G>T) c.534-147G>T (n.534-147G>T) c.471-147G>T (n.471-147G>T) c.540-147G>T (n.540-147G>T) | gnomAD v4 |
1 | g.6474734C= | CA1151507555 | PLEKHG5 | c.303-147G= (n.303-147G=) c.477-147G= (n.477-147G=) c.414-147G= (n.414-147G=) n.632G= c.510-147G= (n.510-147G=) c.600-147G= (n.600-147G=) c.*515-147G= (n.*515-147G=) c.*131-147G= (n.*131-147G=) c.227G= (n.227G=) c.534-147G= (n.534-147G=) c.471-147G= (n.471-147G=) c.540-147G= (n.540-147G=) | |
1 | g.6474734C>G | CA998179436 | PLEKHG5 | c.303-147G>C (n.303-147G>C) c.477-147G>C (n.477-147G>C) c.414-147G>C (n.414-147G>C) n.632G>C c.510-147G>C (n.510-147G>C) c.600-147G>C (n.600-147G>C) c.*515-147G>C (n.*515-147G>C) c.*131-147G>C (n.*131-147G>C) c.227G>C (n.227G>C) c.534-147G>C (n.534-147G>C) c.471-147G>C (n.471-147G>C) c.540-147G>C (n.540-147G>C) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.6474734C>T | CA998179446 | PLEKHG5 | c.303-147G>A (n.303-147G>A) c.477-147G>A (n.477-147G>A) c.414-147G>A (n.414-147G>A) n.632G>A c.510-147G>A (n.510-147G>A) c.600-147G>A (n.600-147G>A) c.*515-147G>A (n.*515-147G>A) c.*131-147G>A (n.*131-147G>A) c.227G>A (n.227G>A) c.534-147G>A (n.534-147G>A) c.471-147G>A (n.471-147G>A) c.540-147G>A (n.540-147G>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.6474735G>A | CA17244006 | PLEKHG5 | c.303-148C>T (n.303-148C>T) c.477-148C>T (n.477-148C>T) c.414-148C>T (n.414-148C>T) n.631C>T c.510-148C>T (n.510-148C>T) c.600-148C>T (n.600-148C>T) c.*515-148C>T (n.*515-148C>T) c.*131-148C>T (n.*131-148C>T) c.226C>T (n.226C>T) c.534-148C>T (n.534-148C>T) c.471-148C>T (n.471-148C>T) c.540-148C>T (n.540-148C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6474735G>C | CA737855082 | PLEKHG5 | c.303-148C>G (n.303-148C>G) c.477-148C>G (n.477-148C>G) c.414-148C>G (n.414-148C>G) n.631C>G c.510-148C>G (n.510-148C>G) c.600-148C>G (n.600-148C>G) c.*515-148C>G (n.*515-148C>G) c.*131-148C>G (n.*131-148C>G) c.226C>G (n.226C>G) c.534-148C>G (n.534-148C>G) c.471-148C>G (n.471-148C>G) c.540-148C>G (n.540-148C>G) | dbSNP gnomAD v4 |
1 | g.6474735G= | CA1151507557 | PLEKHG5 | c.303-148C= (n.303-148C=) c.477-148C= (n.477-148C=) c.414-148C= (n.414-148C=) n.631C= c.510-148C= (n.510-148C=) c.600-148C= (n.600-148C=) c.*515-148C= (n.*515-148C=) c.*131-148C= (n.*131-148C=) c.226C= (n.226C=) c.534-148C= (n.534-148C=) c.471-148C= (n.471-148C=) c.540-148C= (n.540-148C=) | |
1 | g.6474735G>T | CA2642980397 | PLEKHG5 | c.303-148C>A (n.303-148C>A) c.477-148C>A (n.477-148C>A) c.414-148C>A (n.414-148C>A) n.631C>A c.510-148C>A (n.510-148C>A) c.600-148C>A (n.600-148C>A) c.*515-148C>A (n.*515-148C>A) c.*131-148C>A (n.*131-148C>A) c.226C>A (n.226C>A) c.534-148C>A (n.534-148C>A) c.471-148C>A (n.471-148C>A) c.540-148C>A (n.540-148C>A) | gnomAD v4 |
1 | g.6474736C>A | CA2642980403 | PLEKHG5 | c.303-149G>T (n.303-149G>T) c.477-149G>T (n.477-149G>T) c.414-149G>T (n.414-149G>T) n.630G>T c.510-149G>T (n.510-149G>T) c.600-149G>T (n.600-149G>T) c.*515-149G>T (n.*515-149G>T) c.*131-149G>T (n.*131-149G>T) c.225G>T (n.225G>T) c.534-149G>T (n.534-149G>T) c.471-149G>T (n.471-149G>T) c.540-149G>T (n.540-149G>T) | gnomAD v4 |
1 | g.6474736C>T | CA2642980405 | PLEKHG5 | c.303-149G>A (n.303-149G>A) c.477-149G>A (n.477-149G>A) c.414-149G>A (n.414-149G>A) n.630G>A c.510-149G>A (n.510-149G>A) c.600-149G>A (n.600-149G>A) c.*515-149G>A (n.*515-149G>A) c.*131-149G>A (n.*131-149G>A) c.225G>A (n.225G>A) c.534-149G>A (n.534-149G>A) c.471-149G>A (n.471-149G>A) c.540-149G>A (n.540-149G>A) | gnomAD v4 |
1 | g.6474737A>G | CA2642980407 | PLEKHG5 | c.303-150T>C (n.303-150T>C) c.477-150T>C (n.477-150T>C) c.414-150T>C (n.414-150T>C) n.629T>C c.510-150T>C (n.510-150T>C) c.600-150T>C (n.600-150T>C) c.*515-150T>C (n.*515-150T>C) c.*131-150T>C (n.*131-150T>C) c.224T>C (n.224T>C) c.534-150T>C (n.534-150T>C) c.471-150T>C (n.471-150T>C) c.540-150T>C (n.540-150T>C) | gnomAD v4 |
1 | g.6474738G>C | CA17244008 | PLEKHG5 | c.303-151C>G (n.303-151C>G) c.477-151C>G (n.477-151C>G) c.414-151C>G (n.414-151C>G) n.628C>G c.510-151C>G (n.510-151C>G) c.600-151C>G (n.600-151C>G) c.*515-151C>G (n.*515-151C>G) c.*131-151C>G (n.*131-151C>G) c.223C>G (n.223C>G) c.534-151C>G (n.534-151C>G) c.471-151C>G (n.471-151C>G) c.540-151C>G (n.540-151C>G) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.6474738G= | CA1151507560 | PLEKHG5 | c.303-151C= (n.303-151C=) c.477-151C= (n.477-151C=) c.414-151C= (n.414-151C=) n.628C= c.510-151C= (n.510-151C=) c.600-151C= (n.600-151C=) c.*515-151C= (n.*515-151C=) c.*131-151C= (n.*131-151C=) c.223C= (n.223C=) c.534-151C= (n.534-151C=) c.471-151C= (n.471-151C=) c.540-151C= (n.540-151C=) | |
1 | g.6474738G>T | CA2642980413 | PLEKHG5 | c.303-151C>A (n.303-151C>A) c.477-151C>A (n.477-151C>A) c.414-151C>A (n.414-151C>A) n.628C>A c.510-151C>A (n.510-151C>A) c.600-151C>A (n.600-151C>A) c.*515-151C>A (n.*515-151C>A) c.*131-151C>A (n.*131-151C>A) c.223C>A (n.223C>A) c.534-151C>A (n.534-151C>A) c.471-151C>A (n.471-151C>A) c.540-151C>A (n.540-151C>A) | gnomAD v4 |
1 | g.6474739G>A | CA998179451 | PLEKHG5 | c.303-152C>T (n.303-152C>T) c.477-152C>T (n.477-152C>T) c.414-152C>T (n.414-152C>T) n.627C>T c.510-152C>T (n.510-152C>T) c.600-152C>T (n.600-152C>T) c.*515-152C>T (n.*515-152C>T) c.*131-152C>T (n.*131-152C>T) c.222C>T (n.222C>T) c.534-152C>T (n.534-152C>T) c.471-152C>T (n.471-152C>T) c.540-152C>T (n.540-152C>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.6474739G= | CA1151507564 | PLEKHG5 | c.303-152C= (n.303-152C=) c.477-152C= (n.477-152C=) c.414-152C= (n.414-152C=) n.627C= c.510-152C= (n.510-152C=) c.600-152C= (n.600-152C=) c.*515-152C= (n.*515-152C=) c.*131-152C= (n.*131-152C=) c.222C= (n.222C=) c.534-152C= (n.534-152C=) c.471-152C= (n.471-152C=) c.540-152C= (n.540-152C=) | |
1 | g.6474739G>T | CA2642980419 | PLEKHG5 | c.303-152C>A (n.303-152C>A) c.477-152C>A (n.477-152C>A) c.414-152C>A (n.414-152C>A) n.627C>A c.510-152C>A (n.510-152C>A) c.600-152C>A (n.600-152C>A) c.*515-152C>A (n.*515-152C>A) c.*131-152C>A (n.*131-152C>A) c.222C>A (n.222C>A) c.534-152C>A (n.534-152C>A) c.471-152C>A (n.471-152C>A) c.540-152C>A (n.540-152C>A) | gnomAD v4 |
1 | g.6474740T>C | CA2642980422 | PLEKHG5 | c.303-153A>G (n.303-153A>G) c.477-153A>G (n.477-153A>G) c.414-153A>G (n.414-153A>G) n.626A>G c.510-153A>G (n.510-153A>G) c.600-153A>G (n.600-153A>G) c.*515-153A>G (n.*515-153A>G) c.*131-153A>G (n.*131-153A>G) c.221A>G (n.221A>G) c.534-153A>G (n.534-153A>G) c.471-153A>G (n.471-153A>G) c.540-153A>G (n.540-153A>G) | gnomAD v4 |
1 | g.6474740T>G | CA2642980425 | PLEKHG5 | c.303-153A>C (n.303-153A>C) c.477-153A>C (n.477-153A>C) c.414-153A>C (n.414-153A>C) n.626A>C c.510-153A>C (n.510-153A>C) c.600-153A>C (n.600-153A>C) c.*515-153A>C (n.*515-153A>C) c.*131-153A>C (n.*131-153A>C) c.221A>C (n.221A>C) c.534-153A>C (n.534-153A>C) c.471-153A>C (n.471-153A>C) c.540-153A>C (n.540-153A>C) | gnomAD v4 |
1 | g.6474741C>A | CA2642980436 | PLEKHG5 | c.303-154G>T (n.303-154G>T) c.477-154G>T (n.477-154G>T) c.414-154G>T (n.414-154G>T) n.625G>T c.510-154G>T (n.510-154G>T) c.600-154G>T (n.600-154G>T) c.*515-154G>T (n.*515-154G>T) c.*131-154G>T (n.*131-154G>T) c.220G>T (n.220G>T) c.534-154G>T (n.534-154G>T) c.471-154G>T (n.471-154G>T) c.540-154G>T (n.540-154G>T) | gnomAD v4 |
1 | g.6474742del | CA2642980433 | PLEKHG5 | c.303-154del (n.303-154del) c.477-154del (n.477-154del) c.414-154del (n.414-154del) n.625del c.510-154del (n.510-154del) c.600-154del (n.600-154del) c.*515-154del (n.*515-154del) c.*131-154del (n.*131-154del) c.220del (n.220del) c.534-154del (n.534-154del) c.471-154del (n.471-154del) c.540-154del (n.540-154del) | gnomAD v4 |
1 | g.6474742C>T | CA2642980441 | PLEKHG5 | c.303-155G>A (n.303-155G>A) c.477-155G>A (n.477-155G>A) c.414-155G>A (n.414-155G>A) n.624G>A c.510-155G>A (n.510-155G>A) c.600-155G>A (n.600-155G>A) c.*515-155G>A (n.*515-155G>A) c.*131-155G>A (n.*131-155G>A) c.219G>A (n.219G>A) c.534-155G>A (n.534-155G>A) c.471-155G>A (n.471-155G>A) c.540-155G>A (n.540-155G>A) | gnomAD v4 |
1 | g.6474744C>A | CA2642980449 | PLEKHG5 | c.303-157G>T (n.303-157G>T) c.477-157G>T (n.477-157G>T) c.414-157G>T (n.414-157G>T) n.622G>T c.510-157G>T (n.510-157G>T) c.600-157G>T (n.600-157G>T) c.*515-157G>T (n.*515-157G>T) c.*131-157G>T (n.*131-157G>T) c.217G>T (n.217G>T) c.534-157G>T (n.534-157G>T) c.471-157G>T (n.471-157G>T) c.540-157G>T (n.540-157G>T) | gnomAD v4 |
1 | g.6474744C= | CA1151507566 | PLEKHG5 | c.303-157G= (n.303-157G=) c.477-157G= (n.477-157G=) c.414-157G= (n.414-157G=) n.622G= c.510-157G= (n.510-157G=) c.600-157G= (n.600-157G=) c.*515-157G= (n.*515-157G=) c.*131-157G= (n.*131-157G=) c.217G= (n.217G=) c.534-157G= (n.534-157G=) c.471-157G= (n.471-157G=) c.540-157G= (n.540-157G=) | |
1 | g.6474744C>T | CA1151507567 | PLEKHG5 | c.303-157G>A (n.303-157G>A) c.477-157G>A (n.477-157G>A) c.414-157G>A (n.414-157G>A) n.622G>A c.510-157G>A (n.510-157G>A) c.600-157G>A (n.600-157G>A) c.*515-157G>A (n.*515-157G>A) c.*131-157G>A (n.*131-157G>A) c.217G>A (n.217G>A) c.534-157G>A (n.534-157G>A) c.471-157G>A (n.471-157G>A) c.540-157G>A (n.540-157G>A) | dbSNP gnomAD v4 |
1 | g.6474746G>T | CA2642980453 | PLEKHG5 | c.303-159C>A (n.303-159C>A) c.477-159C>A (n.477-159C>A) c.414-159C>A (n.414-159C>A) n.620C>A c.510-159C>A (n.510-159C>A) c.600-159C>A (n.600-159C>A) c.*515-159C>A (n.*515-159C>A) c.*131-159C>A (n.*131-159C>A) c.215C>A (n.215C>A) c.534-159C>A (n.534-159C>A) c.471-159C>A (n.471-159C>A) c.540-159C>A (n.540-159C>A) | gnomAD v4 |
1 | g.6474747_6474752delinsACACCT | CA1151507568 | PLEKHG5 | c.303-165_303-160delinsAGGTGT (n.303-165_303-160delinsAGGTGT) c.477-165_477-160delinsAGGTGT (n.477-165_477-160delinsAGGTGT) c.414-165_414-160delinsAGGTGT (n.414-165_414-160delinsAGGTGT) n.614_619delinsAGGTGT c.510-165_510-160delinsAGGTGT (n.510-165_510-160delinsAGGTGT) c.600-165_600-160delinsAGGTGT (n.600-165_600-160delinsAGGTGT) c.*515-165_*515-160delinsAGGTGT (n.*515-165_*515-160delinsAGGTGT) c.*131-165_*131-160delinsAGGTGT (n.*131-165_*131-160delinsAGGTGT) c.209_214delinsAGGTGT (n.209_214delinsAGGTGT) c.534-165_534-160delinsAGGTGT (n.534-165_534-160delinsAGGTGT) c.471-165_471-160delinsAGGTGT (n.471-165_471-160delinsAGGTGT) c.540-165_540-160delinsAGGTGT (n.540-165_540-160delinsAGGTGT) | |
1 | g.6474748C>A | CA2642980456 | PLEKHG5 | c.303-161G>T (n.303-161G>T) c.477-161G>T (n.477-161G>T) c.414-161G>T (n.414-161G>T) n.618G>T c.510-161G>T (n.510-161G>T) c.600-161G>T (n.600-161G>T) c.*515-161G>T (n.*515-161G>T) c.*131-161G>T (n.*131-161G>T) c.213G>T (n.213G>T) c.534-161G>T (n.534-161G>T) c.471-161G>T (n.471-161G>T) c.540-161G>T (n.540-161G>T) | gnomAD v4 |
1 | g.6474748_6474752del | CA1151507569 | PLEKHG5 | c.303-165_303-161del (n.303-165_303-161del) c.477-165_477-161del (n.477-165_477-161del) c.414-165_414-161del (n.414-165_414-161del) n.614_618del c.510-165_510-161del (n.510-165_510-161del) c.600-165_600-161del (n.600-165_600-161del) c.*515-165_*515-161del (n.*515-165_*515-161del) c.*131-165_*131-161del (n.*131-165_*131-161del) c.209_213del (n.209_213del) c.534-165_534-161del (n.534-165_534-161del) c.471-165_471-161del (n.471-165_471-161del) c.540-165_540-161del (n.540-165_540-161del) | dbSNP |
1 | g.6474750C>A | CA1151507570 | PLEKHG5 | c.303-163G>T (n.303-163G>T) c.477-163G>T (n.477-163G>T) c.414-163G>T (n.414-163G>T) n.616G>T c.510-163G>T (n.510-163G>T) c.600-163G>T (n.600-163G>T) c.*515-163G>T (n.*515-163G>T) c.*131-163G>T (n.*131-163G>T) c.211G>T (n.211G>T) c.534-163G>T (n.534-163G>T) c.471-163G>T (n.471-163G>T) c.540-163G>T (n.540-163G>T) | dbSNP gnomAD v4 |
1 | g.6474750C= | CA1151507571 | PLEKHG5 | c.303-163G= (n.303-163G=) c.477-163G= (n.477-163G=) c.414-163G= (n.414-163G=) n.616G= c.510-163G= (n.510-163G=) c.600-163G= (n.600-163G=) c.*515-163G= (n.*515-163G=) c.*131-163G= (n.*131-163G=) c.211G= (n.211G=) c.534-163G= (n.534-163G=) c.471-163G= (n.471-163G=) c.540-163G= (n.540-163G=) | |
1 | g.6474750C>T | CA17244010 | PLEKHG5 | c.303-163G>A (n.303-163G>A) c.477-163G>A (n.477-163G>A) c.414-163G>A (n.414-163G>A) n.616G>A c.510-163G>A (n.510-163G>A) c.600-163G>A (n.600-163G>A) c.*515-163G>A (n.*515-163G>A) c.*131-163G>A (n.*131-163G>A) c.211G>A (n.211G>A) c.534-163G>A (n.534-163G>A) c.471-163G>A (n.471-163G>A) c.540-163G>A (n.540-163G>A) | dbSNP gnomAD v4 |
1 | g.6474751C>A | CA2642980471 | PLEKHG5 | c.303-164G>T (n.303-164G>T) c.477-164G>T (n.477-164G>T) c.414-164G>T (n.414-164G>T) n.615G>T c.510-164G>T (n.510-164G>T) c.600-164G>T (n.600-164G>T) c.*515-164G>T (n.*515-164G>T) c.*131-164G>T (n.*131-164G>T) c.210G>T (n.210G>T) c.534-164G>T (n.534-164G>T) c.471-164G>T (n.471-164G>T) c.540-164G>T (n.540-164G>T) | gnomAD v4 |